#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_annotation_transcript	i_build	i_ccds_id	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_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_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ADAMTS13	11093	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	136291396	136291396	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr9:136291396delG	ENST00000371929.3	+	6	1061	c.617delG	c.(616-618)tggfs	p.W206fs	ADAMTS13_ENST00000536611.1_5'Flank|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371911.3_Frame_Shift_Del_p.W206fs|ADAMTS13_ENST00000371916.1_Frame_Shift_Del_p.W206fs|ADAMTS13_ENST00000356589.2_Frame_Shift_Del_p.W206fs|ADAMTS13_ENST00000355699.2_Frame_Shift_Del_p.W206fs	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	206	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TCCCCAACCTGGAGCTGCCTC	0.607																																																	0													74.0	64.0	67.0					9																	136291396		2203	4300	6503	SO:0001589	frameshift_variant	11093			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.617delG	9.37:g.136291396delG	ENSP00000360997:p.Trp206fs		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Frame_Shift_Del	DEL	ENST00000371929.3	37	CCDS6970.1																																																																																				0.607	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1		NM_139025	
AKT1	207	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	105246482	105246482	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr14:105246482C>T	ENST00000554581.1	-	2	1598	c.118G>A	c.(118-120)Gag>Aag	p.E40K	AKT1_ENST00000555528.1_Missense_Mutation_p.E40K|AKT1_ENST00000349310.3_Missense_Mutation_p.E40K|AKT1_ENST00000402615.2_Missense_Mutation_p.E40K|AKT1_ENST00000554848.1_Missense_Mutation_p.E40K|AKT1_ENST00000407796.2_Missense_Mutation_p.E40K|AKT1_ENST00000544168.1_5'Flank			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	40	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E40K(1)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TGCGGCCGCTCCTTGTAGCCA	0.582		1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																			Dom	yes		14	14q32.32	207	v-akt murine thymoma viral oncogene homolog 1		E	1	Substitution - Missense(1)	kidney(1)											122.0	97.0	105.0					14																	105246482		2201	4300	6501	SO:0001583	missense	207			M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.118G>A	14.37:g.105246482C>T	ENSP00000451828:p.Glu40Lys		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840144	0.91117	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000554848;ENST00000555926	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	4.77	4.77	0.60923	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.47078	0.1426	L	0.47716	1.5	0.80722	D	1	P	0.38535	0.635	P	0.46389	0.515	T	0.36817	-0.9732	10	0.35671	T	0.21	.	16.5167	0.84302	0.0:1.0:0.0:0.0	.	40	P31749	AKT1_HUMAN	K	40	ENSP00000451828:E40K;ENSP00000384293:E40K;ENSP00000270202:E40K;ENSP00000385326:E40K;ENSP00000450688:E40K;ENSP00000451166:E40K;ENSP00000451824:E40K	ENSP00000270202:E40K	E	-	1	0	AKT1	104317527	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	7.369000	0.79578	2.478000	0.83669	0.462000	0.41574	GAG		0.582	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1		NM_005163	
ANAPC1	64682	hgsc.bcm.edu	37	2	112536274	112536274	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr2:112536274delG	ENST00000341068.3	-	45	6135	c.5363delC	c.(5362-5364)cctfs	p.P1788fs		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1788					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GATGTATGCAGGCAACATCTC	0.403																																																	0													62.0	53.0	56.0					2																	112536274		2201	4297	6498	SO:0001589	frameshift_variant	64682			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.5363delC	2.37:g.112536274delG	ENSP00000339109:p.Pro1788fs		Q2M3H8|Q9BSE6|Q9H8D0	Frame_Shift_Del	DEL	ENST00000341068.3	37	CCDS2093.1																																																																																				0.403	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2		NM_022662	
APPL2	55198	broad.mit.edu;hgsc.bcm.edu	37	12	105582196	105582196	+	Missense_Mutation	SNP	G	G	A	rs536236110		TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr12:105582196G>A	ENST00000258530.3	-	17	1714	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	APPL2_ENST00000539978.2_Missense_Mutation_p.R454W|APPL2_ENST00000551662.1_Missense_Mutation_p.R503W	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.R497W(2)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CCCAAAAACCGAACTATAAAC	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		21010	0.0		0.0	False		,,,				2504	0.001																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											93.0	91.0	92.0					12																	105582196		2203	4300	6503	SO:0001583	missense	55198			AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1489C>T	12.37:g.105582196G>A	ENSP00000258530:p.Arg497Trp		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175533	0.94807	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662	T;T;T	0.24908	1.83;1.83;1.83	5.35	5.35	0.76521	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.054287	0.85682	D	0.000000	T	0.54013	0.1832	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;P;D	0.69654	0.946;0.727;0.965	T	0.58825	-0.7568	10	0.87932	D	0	-21.6286	19.0617	0.93096	0.0:0.0:1.0:0.0	.	503;454;497	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	W	497;454;503	ENSP00000258530:R497W;ENSP00000444472:R454W;ENSP00000446917:R503W	ENSP00000258530:R497W	R	-	1	2	APPL2	104106326	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.497000	0.84241	0.637000	0.83480	CGG		0.423	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3		NM_018171	
ART1	417	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	3681532	3681532	+	Silent	SNP	C	C	T	rs139469651	byFrequency	TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr11:3681532C>T	ENST00000250693.1	+	3	884	c.783C>T	c.(781-783)ccC>ccT	p.P261P		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	261					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		CCCAGGGCCCCGCCCGCATCT	0.602													C|||	3	0.000599042	0.0023	0.0	5008	,	,		17767	0.0		0.0	False		,,,				2504	0.0																0								C		1,4401	2.1+/-5.4	0,1,2200	43.0	47.0	46.0		783	-10.0	0.0	11	dbSNP_134	46	0,8594		0,0,4297	no	coding-synonymous	ART1	NM_004314.2		0,1,6497	TT,TC,CC		0.0,0.0227,0.0077		261/328	3681532	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	417			S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"""CD molecules"""	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.783C>T	11.37:g.3681532C>T			Q6NTD2|Q96KT9	Silent	SNP	ENST00000250693.1	37	CCDS7744.1																																																																																				0.602	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032765.1		NM_004314	
ASH2L	9070	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	37974168	37974168	+	Splice_Site	SNP	G	G	T			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr8:37974168G>T	ENST00000343823.6	+	8	1087	c.778G>T	c.(778-780)Gac>Tac	p.D260Y	ASH2L_ENST00000428278.2_Splice_Site_p.D166Y|ASH2L_ENST00000545394.1_Splice_Site_p.D121Y|ASH2L_ENST00000521652.1_Splice_Site_p.D166Y|ASH2L_ENST00000250635.7_Splice_Site_p.D166Y|ASH2L_ENST00000524263.1_3'UTR	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	260					cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.D260Y(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				ATTTTTGCAGGACCTTAGTAA	0.358																																																	1	Substitution - Missense(1)	kidney(1)											95.0	91.0	93.0					8																	37974168		2203	4300	6503	SO:0001630	splice_region_variant	9070			AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"""Zinc fingers, PHD-type"""	744	protein-coding gene	gene with protein product		604782	"""ash2 (absent, small, or homeotic, Drosophila, homolog)-like"""	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.778-1G>T	8.37:g.37974168G>T			A8K7C3|D3DSW9|O60659|O60660|Q96B62	Missense_Mutation	SNP	ENST00000343823.6	37	CCDS6101.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.832818	0.91036	.	.	ENSG00000129691	ENST00000343823;ENST00000250635;ENST00000545394;ENST00000428278;ENST00000521652	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.49133	0.1539	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.20338	-1.0278	9	.	.	.	.	20.0222	0.97508	0.0:0.0:1.0:0.0	.	166;260	Q9UBL3-2;Q9UBL3	.;ASH2L_HUMAN	Y	260;166;121;166;166	ENSP00000340896:D260Y;ENSP00000250635:D166Y;ENSP00000443606:D121Y;ENSP00000395310:D166Y;ENSP00000430259:D166Y	.	D	+	1	0	ASH2L	38093325	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	8.723000	0.91458	2.726000	0.93360	0.655000	0.94253	GAC		0.358	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4		NM_004674	Missense_Mutation
ASTL	431705	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	96789912	96789912	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr2:96789912G>T	ENST00000342380.2	-	9	972	c.973C>A	c.(973-975)Ccc>Acc	p.P325T		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GAACCACTGGGGTCGGGGCTC	0.672																																																	0													23.0	28.0	26.0					2																	96789912		2199	4290	6489	SO:0001583	missense	431705			AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.973C>A	2.37:g.96789912G>T	ENSP00000343674:p.Pro325Thr			Missense_Mutation	SNP	ENST00000342380.2	37	CCDS33249.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457817	0.26161	.	.	ENSG00000188886	ENST00000342380	T	0.71222	-0.55	4.41	2.55	0.30701	.	0.533769	0.14188	N	0.335558	T	0.54711	0.1875	L	0.29908	0.895	0.09310	N	1	B	0.20052	0.041	B	0.14578	0.011	T	0.48581	-0.9023	10	0.62326	D	0.03	0.1193	5.5058	0.16854	0.1059:0.0:0.6974:0.1967	.	325	Q6HA08	ASTL_HUMAN	T	325	ENSP00000343674:P325T	ENSP00000343674:P325T	P	-	1	0	ASTL	96153639	0.000000	0.05858	0.002000	0.10522	0.059000	0.15707	-0.309000	0.08145	0.407000	0.25591	0.306000	0.20318	CCC		0.672	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			
B2M	567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	45007701	45007701	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr15:45007701delT	ENST00000558401.1	+	2	218	c.148delT	c.(148-150)tttfs	p.F50fs	B2M_ENST00000544417.1_Frame_Shift_Del_p.F50fs|B2M_ENST00000559220.1_Intron|B2M_ENST00000559916.1_Frame_Shift_Del_p.F50fs	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	50	Ig-like C1-type.				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 exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TGTGTCTGGGTTTCATCCATC	0.413																																																	0													187.0	191.0	189.0					15																	45007701		2198	4298	6496	SO:0001589	frameshift_variant	567			AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"""Immunoglobulin superfamily / C1-set domain containing"""	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.148delT	15.37:g.45007701delT	ENSP00000452780:p.Phe50fs		P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Frame_Shift_Del	DEL	ENST00000558401.1	37	CCDS10113.1																																																																																				0.413	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2		NM_004048	
B2M	567	hgsc.bcm.edu	37	15	45007705	45007705	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr15:45007705A>C	ENST00000558401.1	+	2	222	c.152A>C	c.(151-153)cAt>cCt	p.H51P	B2M_ENST00000544417.1_Missense_Mutation_p.H51P|B2M_ENST00000559220.1_Intron|B2M_ENST00000559916.1_Missense_Mutation_p.H51P	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	51	Ig-like C1-type.				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 exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TCTGGGTTTCATCCATCCGAC	0.418																																																	0													190.0	193.0	192.0					15																	45007705		2198	4298	6496	SO:0001583	missense	567			AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"""Immunoglobulin superfamily / C1-set domain containing"""	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.152A>C	15.37:g.45007705A>C	ENSP00000452780:p.His51Pro		P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Missense_Mutation	SNP	ENST00000558401.1	37	CCDS10113.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.187758	0.78789	.	.	ENSG00000166710	ENST00000349264;ENST00000544417;ENST00000396754	T	0.03065	4.06	6.03	6.03	0.97812	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	H	0.94423	3.535	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.997	T	0.16217	-1.0410	10	0.87932	D	0	.	12.95	0.58394	1.0:0.0:0.0:0.0	.	51;51;51	F5H6I0;A6XMH4;P61769	.;.;B2MG_HUMAN	P	51	ENSP00000437604:H51P	ENSP00000340858:H51P	H	+	2	0	B2M	42794997	1.000000	0.71417	0.999000	0.59377	0.700000	0.40528	6.818000	0.75257	2.308000	0.77769	0.533000	0.62120	CAT		0.418	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2		NM_004048	
BAG4	9530	broad.mit.edu	37	8	38034599	38034599	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr8:38034599G>A	ENST00000287322.4	+	1	483	c.212G>A	c.(211-213)gGc>gAc	p.G71D	LSM1_ENST00000522515.1_5'Flank|LSM1_ENST00000520755.1_5'Flank|LSM1_ENST00000311351.4_5'Flank|BAG4_ENST00000432471.2_Missense_Mutation_p.G71D|BAG4_ENST00000521282.1_3'UTR	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	71					cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)	p.G71D(1)		breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				GGAGGCGATGGCTACTATCCC	0.701																																																	1	Substitution - Missense(1)	kidney(1)											17.0	16.0	17.0					8																	38034599		2199	4292	6491	SO:0001583	missense	9530			AF095194	CCDS6104.1, CCDS56533.1	8p11.23	2008-08-07			ENSG00000156735	ENSG00000156735			940	protein-coding gene	gene with protein product	"""silencer of death domains"""	603884				9873016, 9915703	Standard	NM_004874		Approved	SODD	uc003xky.2	O95429	OTTHUMG00000164064	ENST00000287322.4:c.212G>A	8.37:g.38034599G>A	ENSP00000287322:p.Gly71Asp		B4E217|O95818	Missense_Mutation	SNP	ENST00000287322.4	37	CCDS6104.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329053	0.95733	.	.	ENSG00000156735	ENST00000432471;ENST00000287322	D;D	0.86432	-2.12;-1.82	4.63	4.63	0.57726	.	0.000000	0.64402	D	0.000013	D	0.91466	0.7306	M	0.63428	1.95	0.36744	D	0.882405	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.92733	0.6201	10	0.46703	T	0.11	-9.825	12.8495	0.57850	0.0:0.0:1.0:0.0	.	71;71	B4E217;O95429	.;BAG4_HUMAN	D	71	ENSP00000393298:G71D;ENSP00000287322:G71D	ENSP00000287322:G71D	G	+	2	0	BAG4	38153756	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.764000	0.47613	2.380000	0.81148	0.491000	0.48974	GGC		0.701	BAG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377038.2		NM_004874	
BDP1	55814	broad.mit.edu;ucsc.edu	37	5	70840940	70840940	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr5:70840940G>T	ENST00000358731.4	+	32	6901	c.6638G>T	c.(6637-6639)gGg>gTg	p.G2213V	BDP1_ENST00000380675.2_Missense_Mutation_p.G349V	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2213					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.G2213V(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TCTGAGACAGGGCCCTGCACA	0.468																																																	1	Substitution - Missense(1)	kidney(1)											120.0	114.0	116.0					5																	70840940		1855	4099	5954	SO:0001583	missense	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.6638G>T	5.37:g.70840940G>T	ENSP00000351575:p.Gly2213Val		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	4.575	0.106877	0.08780	.	.	ENSG00000145734	ENST00000358731;ENST00000451951;ENST00000380675;ENST00000545546	T;T	0.45276	3.8;0.9	4.55	-1.62	0.08372	.	1.568390	0.03294	N	0.188095	T	0.32704	0.0838	L	0.43152	1.355	0.09310	N	0.999999	B;P	0.34462	0.017;0.454	B;B	0.27715	0.007;0.082	T	0.22591	-1.0212	10	0.39692	T	0.17	.	7.8172	0.29267	0.0:0.2553:0.2719:0.4728	.	2213;2213	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	V	2213;1761;349;349	ENSP00000351575:G2213V;ENSP00000370050:G349V	ENSP00000351575:G2213V	G	+	2	0	BDP1	70876696	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.350000	0.07721	-0.448000	0.07128	-0.176000	0.13171	GGG		0.468	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2		NM_018429	
GGT1	2678	hgsc.bcm.edu;ucsc.edu	37	22	24984203	24984204	+	Intron	INS	-	-	GCA	rs202133451	byFrequency	TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr22:24984203_24984204insGCA	ENST00000248923.4	+	1	59				FAM211B_ENST00000318753.8_In_Frame_Ins_p.133_134insL|FAM211B_ENST00000495297.1_5'Flank	NM_013430.2	NP_038347.2	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1						arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CTTCCTCTGGCGCAGGCTGGAC	0.599																																																	0																																										SO:0001627	intron_variant	0			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000248923.4:c.-429+4427->GCA	22.37:g.24984204_24984206dupGCA			Q08247|Q14404|Q8TBS1|Q9UMK1	In_Frame_Ins	INS	ENST00000248923.4	37	CCDS42992.1																																																																																				0.599	GGT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319110.1		NM_013430	
C9orf16	79095	hgsc.bcm.edu	37	9	130925841	130925841	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr9:130925841C>T	ENST00000372994.1	+	2	347	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	C9orf16_ENST00000492588.1_3'UTR	NM_024112.3	NP_077017.1	Q9BUW7	CI016_HUMAN	chromosome 9 open reading frame 16	67										ovary(1)	1		Myeloproliferative disorder(762;0.0511)		GBM - Glioblastoma multiforme(294;0.0294)		CCGGCAGACACGCCTGGAGTT	0.657																																																	0													24.0	24.0	24.0					9																	130925841		2203	4300	6503	SO:0001583	missense	79095			AK022885	CCDS6893.1	9q34.1	2012-03-06			ENSG00000171159	ENSG00000171159			17823	protein-coding gene	gene with protein product						10369878	Standard	NM_024112		Approved	EST00098, FLJ12823, MGC4639	uc004btp.1	Q9BUW7	OTTHUMG00000020731	ENST00000372994.1:c.199C>T	9.37:g.130925841C>T	ENSP00000362085:p.Arg67Cys		Q5SYV8|Q9Y3F7	Missense_Mutation	SNP	ENST00000372994.1	37	CCDS6893.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534138	0.85812	.	.	ENSG00000171159	ENST00000372994	.	.	.	5.34	3.3	0.37823	.	0.058514	0.64402	D	0.000003	T	0.49321	0.1550	.	.	.	0.58432	D	0.999994	B	0.26635	0.155	B	0.23852	0.049	T	0.54357	-0.8306	8	0.87932	D	0	-13.4923	11.6081	0.51043	0.1326:0.7953:0.0:0.072	.	67	Q9BUW7	CI016_HUMAN	C	67	.	ENSP00000362085:R67C	R	+	1	0	C9orf16	129965662	0.975000	0.34042	0.988000	0.46212	0.997000	0.91878	2.470000	0.45119	1.270000	0.44297	0.555000	0.69702	CGC		0.657	C9orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054351.1		NM_024112	
CD55	1604	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	207495818	207495818	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr1:207495818A>C	ENST00000367064.3	+	2	450	c.192A>C	c.(190-192)aaA>aaC	p.K64N	CD55_ENST00000314754.8_Missense_Mutation_p.K64N|CD55_ENST00000367067.4_Missense_Mutation_p.K64N|CD55_ENST00000367065.5_Missense_Mutation_p.K64N|CD55_ENST00000367062.4_Missense_Mutation_p.K64N|CD55_ENST00000391920.4_Missense_Mutation_p.K64N|CD55_ENST00000367063.2_Missense_Mutation_p.K64N|CD55_ENST00000391921.4_Missense_Mutation_p.K64N	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	64	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				CD4-positive, alpha-beta T cell cytokine production (GO:0035743)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|maternal process involved in parturition (GO:0060137)|negative regulation of complement activation (GO:0045916)|positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of complement activation (GO:0030449)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|respiratory burst (GO:0045730)|response to peptide hormone (GO:0043434)|response to virus (GO:0009615)|spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	enzyme inhibitor activity (GO:0004857)|lipid binding (GO:0008289)|virus receptor activity (GO:0001618)	p.K64N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	TAACGTACAAATGTGAAGAAA	0.468																																																	1	Substitution - Missense(1)	kidney(1)											110.0	115.0	113.0					1																	207495818		2203	4300	6503	SO:0001583	missense	1604			BC001288	CCDS31006.1, CCDS44307.1, CCDS73022.1	1q32	2014-09-17	2006-03-28	2006-02-23	ENSG00000196352	ENSG00000196352		"""CD molecules"", ""Blood group antigens"""	2665	protein-coding gene	gene with protein product		125240	"""decay accelerating factor for complement (CD55, Cromer blood group system)"""	DAF			Standard	XM_005273077		Approved	CR, TC, CROM	uc001hfr.4	P08174	OTTHUMG00000036255	ENST00000367064.3:c.192A>C	1.37:g.207495818A>C	ENSP00000356031:p.Lys64Asn		B1AP14|D3DT83|D3DT84|E7ER69|P09679|P78361|Q14UF2|Q14UF3|Q14UF4|Q14UF5|Q14UF6	Missense_Mutation	SNP	ENST00000367064.3	37	CCDS31006.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.71|18.71	3.683218|3.683218	0.68157|0.68157	.|.	.|.	ENSG00000196352|ENSG00000196352	ENST00000367064;ENST00000367063;ENST00000391921;ENST00000367067;ENST00000536840;ENST00000314754;ENST00000367065;ENST00000391920;ENST00000367062|ENST00000343420	T;T;T;T;T;T;T;T|.	0.65549|.	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16|.	5.44|5.44	-7.14|-7.14	0.01527|0.01527	Complement control module (2);Sushi/SCR/CCP (3);|.	1.134570|.	0.06671|.	N|.	0.766124|.	T|T	0.31358|0.31358	0.0794|0.0794	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	D;D;P;P;P|.	0.69078|.	0.997;0.962;0.583;0.898;0.636|.	D;P;P;P;P|.	0.67725|.	0.953;0.542;0.584;0.542;0.708|.	T|T	0.35025|0.35025	-0.9805|-0.9805	10|5	0.27082|.	T|.	0.32|.	.|.	3.1003|3.1003	0.06324|0.06324	0.227:0.2488:0.4025:0.1218|0.227:0.2488:0.4025:0.1218	.|.	64;64;64;64;64|.	B1AP15;Q14UF4;P08174-2;P08174;B1AP13|.	.;.;.;DAF_HUMAN;.|.	N|T	64|74	ENSP00000356031:K64N;ENSP00000356030:K64N;ENSP00000375788:K64N;ENSP00000356034:K64N;ENSP00000316333:K64N;ENSP00000356032:K64N;ENSP00000375787:K64N;ENSP00000356029:K64N|.	ENSP00000316333:K64N|.	K|N	+|+	3|2	2|0	CD55|CD55	205562441|205562441	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.629000|-0.629000	0.05508|0.05508	-1.315000|-1.315000	0.02297|0.02297	-1.133000|-1.133000	0.01973|0.01973	AAA|AAT		0.468	CD55-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088208.2		NM_000574	
CDH24	64403	broad.mit.edu	37	14	23521190	23521190	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr14:23521190delC	ENST00000267383.5	-	8	1558	c.1466delG	c.(1465-1467)ggafs	p.G489fs	CDH24_ENST00000485922.1_5'Flank|CDH24_ENST00000554034.1_Intron|CDH24_ENST00000487137.2_Intron|CDH24_ENST00000397359.3_Frame_Shift_Del_p.G489fs			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	489	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TTGGGGGATTCCCACAGCGCT	0.627																																																	0													27.0	26.0	26.0					14																	23521190		2202	4293	6495	SO:0001589	frameshift_variant	64403			AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.1466delG	14.37:g.23521190delC	ENSP00000267383:p.Gly489fs		D3DS44|Q86UP1|Q9NT84	Frame_Shift_Del	DEL	ENST00000267383.5	37	CCDS9585.1																																																																																				0.627	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2		NM_022478	
CFHR2	3080	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	196927137	196927137	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr1:196927137C>A	ENST00000367415.5	+	4	647	c.547C>A	c.(547-549)Caa>Aaa	p.Q183K	CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000367421.3_Missense_Mutation_p.Q183K|CFHR2_ENST00000476712.2_Missense_Mutation_p.Q167K	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	183	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)		p.Q183K(1)		large_intestine(2)|ovary(1)|skin(3)	6						GAACTTGTATCAACTTGAGGG	0.408																																																	1	Substitution - Missense(1)	kidney(1)											176.0	160.0	166.0					1																	196927137		2203	4300	6503	SO:0001583	missense	3080			X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.547C>A	1.37:g.196927137C>A	ENSP00000356385:p.Gln183Lys		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367415.5	37	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	0.155	-1.087470	0.01873	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.63417	-0.04;-0.04	4.01	-6.57	0.01842	Complement control module (2);Sushi/SCR/CCP (3);	4.957740	0.01101	N	0.005371	T	0.39517	0.1081	N	0.17800	0.525	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.44922	-0.9296	10	0.06236	T	0.91	.	8.3784	0.32457	0.2925:0.5308:0.1767:0.0	.	156;183	P36980-2;P36980	.;FHR2_HUMAN	K	183	ENSP00000356391:Q183K;ENSP00000356385:Q183K	ENSP00000356385:Q183K	Q	+	1	0	CFHR2	195193760	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-4.538000	0.00219	-1.262000	0.02459	-1.612000	0.00800	CAA		0.408	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2		NM_005666	
CILP	8483	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	65499358	65499358	+	Silent	SNP	G	G	T			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr15:65499358G>T	ENST00000261883.4	-	4	352	c.186C>A	c.(184-186)atC>atA	p.I62I		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	62					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CTGGGTAGTCGATGTTGAACC	0.597																																																	0													53.0	43.0	46.0					15																	65499358		2201	4299	6500	SO:0001819	synonymous_variant	8483			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.186C>A	15.37:g.65499358G>T			B2R8F7|Q6UW99|Q8IYI5	Silent	SNP	ENST00000261883.4	37	CCDS10203.1																																																																																				0.597	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1		NM_003613	
CLCN7	1186	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1510843	1510843	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr16:1510843C>A	ENST00000382745.4	-	5	1063	c.458G>T	c.(457-459)gGc>gTc	p.G153V	CLCN7_ENST00000448525.1_Missense_Mutation_p.G129V|CLCN7_ENST00000262318.8_Missense_Mutation_p.G129V	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	153					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.G153V(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GTACTTGAGGCCAGCCAGGTT	0.642																																																	1	Substitution - Missense(1)	kidney(1)											98.0	83.0	88.0					16																	1510843		2199	4300	6499	SO:0001583	missense	1186			Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.458G>T	16.37:g.1510843C>A	ENSP00000372193:p.Gly153Val		A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	37	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682624	0.88542	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	T;T	0.80214	-1.35;-1.35	4.7	4.7	0.59300	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.82458	0.5041	L	0.41492	1.28	0.80722	D	1	B;D	0.63880	0.162;0.993	B;P	0.56216	0.052;0.794	D	0.83673	0.0167	10	0.49607	T	0.09	-33.178	16.2084	0.82142	0.0:1.0:0.0:0.0	.	129;153	E9PDB9;P51798	.;CLCN7_HUMAN	V	129;106;153;95	ENSP00000410907:G129V;ENSP00000372193:G153V	ENSP00000262318:G106V	G	-	2	0	CLCN7	1450844	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	7.710000	0.84655	2.156000	0.67533	0.591000	0.81541	GGC		0.642	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2		NM_001287	
COBL	23242	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	51096089	51096089	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr7:51096089C>G	ENST00000265136.7	-	10	2869	c.2704G>C	c.(2704-2706)Gtg>Ctg	p.V902L	COBL_ENST00000395542.2_Missense_Mutation_p.V984L	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	902					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)	p.V902L(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCAGCCAGCACTGGCGCCTTG	0.582																																					NSCLC(189;2119 2138 12223 30818 34679)												1	Substitution - Missense(1)	kidney(1)											118.0	88.0	98.0					7																	51096089		2203	4300	6503	SO:0001583	missense	23242			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2704G>C	7.37:g.51096089C>G	ENSP00000265136:p.Val902Leu		A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	C	9.713	1.157496	0.21454	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.11277	2.8;2.79;2.79;2.79	5.31	1.2	0.21068	.	2.130060	0.02373	N	0.078022	T	0.08358	0.0208	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.25667	0.066;0.066;0.003;0.131;0.005	B;B;B;B;B	0.21151	0.033;0.033;0.002;0.032;0.007	T	0.33420	-0.9869	10	0.20519	T	0.43	.	7.3158	0.26499	0.0:0.2608:0.0:0.7392	.	902;959;902;984;444	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	L	902;794;787;984	ENSP00000265136:V902L;ENSP00000401204:V794L;ENSP00000413498:V787L;ENSP00000378912:V984L	ENSP00000265136:V902L	V	-	1	0	COBL	51063583	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.712000	0.25779	0.301000	0.22738	0.563000	0.77884	GTG		0.582	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1		NM_015198	
DDX12P	440081	broad.mit.edu	37	12	9578354	9578354	+	IGR	SNP	A	A	C			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr12:9578354A>C								RP13-735L24.1 (28141 upstream) : SNORA75 (19299 downstream)																							AATTGCTGAAACCCAGCCAGT	0.597																																																	0													7.0	10.0	9.0					12																	9578354		685	1572	2257	SO:0001628	intergenic_variant	0																															12.37:g.9578354A>C				Missense_Mutation	SNP		37																																																																																				0	0.597									
DLK2	65989	broad.mit.edu;hgsc.bcm.edu	37	6	43418521	43418521	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr6:43418521C>A	ENST00000357338.3	-	6	1608	c.908G>T	c.(907-909)gGt>gTt	p.G303V	DLK2_ENST00000372485.1_Missense_Mutation_p.G297V|DLK2_ENST00000414245.1_Missense_Mutation_p.G297V|DLK2_ENST00000372488.3_Missense_Mutation_p.G303V	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	303					negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.G303V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GCTAGGCTCACCTAGCCCAGC	0.672																																																	1	Substitution - Missense(1)	kidney(1)											75.0	75.0	75.0					6																	43418521		2203	4300	6503	SO:0001583	missense	65989			AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"""EGF-like-domain, multiple 9"""	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.908G>T	6.37:g.43418521C>A	ENSP00000349893:p.Gly303Val		B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	ENST00000357338.3	37	CCDS4897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.60|11.60	1.687711|1.687711	0.29962|0.29962	.|.	.|.	ENSG00000171462|ENSG00000171462	ENST00000372485;ENST00000372488;ENST00000357338;ENST00000414245|ENST00000430324	D;D;D;D|.	0.89270|.	-2.49;-2.46;-2.46;-2.49|.	5.09|5.09	4.21|4.21	0.49690|0.49690	.|.	0.350310|.	0.27206|.	N|.	0.020423|.	T|T	0.35508|0.35508	0.0934|0.0934	N|N	0.24115|0.24115	0.695|0.695	0.53005|0.53005	D|D	0.999961|0.999961	B|.	0.18741|.	0.03|.	B|.	0.19148|.	0.024|.	T|T	0.23833|0.23833	-1.0177|-1.0177	10|5	0.56958|.	D|.	0.05|.	.|.	14.0162|14.0162	0.64525|0.64525	0.0:0.6771:0.3229:0.0|0.0:0.6771:0.3229:0.0	.|.	303|.	Q6UY11|.	DLK2_HUMAN|.	V|L	297;303;303;297|209	ENSP00000361563:G297V;ENSP00000361566:G303V;ENSP00000349893:G303V;ENSP00000398906:G297V|.	ENSP00000349893:G303V|.	G|V	-|-	2|1	0|0	DLK2|DLK2	43526499|43526499	0.277000|0.277000	0.24220|0.24220	0.395000|0.395000	0.26283|0.26283	0.451000|0.451000	0.32288|0.32288	2.361000|2.361000	0.44160|0.44160	1.114000|1.114000	0.41781|0.41781	0.462000|0.462000	0.41574|0.41574	GGT|GTG		0.672	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1		NM_023932	
DPYD	1806	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	98164907	98164907	+	Splice_Site	SNP	C	C	T			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr1:98164907C>T	ENST00000370192.3	-	6	780	c.680G>A	c.(679-681)aGt>aAt	p.S227N	DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	227					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.S227N(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TAGGCATTACCTTAAACCACC	0.363																																																	1	Substitution - Missense(1)	kidney(1)											104.0	103.0	103.0					1																	98164907		2203	4300	6503	SO:0001630	splice_region_variant	1806			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.680+1G>A	1.37:g.98164907C>T			A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844484	0.91197	.	.	ENSG00000188641	ENST00000370192	D	0.82255	-1.59	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.79203	0.4406	N	0.11756	0.17	0.80722	D	1	D	0.64830	0.994	D	0.69654	0.965	T	0.79047	-0.1963	9	.	.	.	-18.6165	19.4065	0.94649	0.0:1.0:0.0:0.0	.	227	Q12882	DPYD_HUMAN	N	227	ENSP00000359211:S227N	.	S	-	2	0	DPYD	97937495	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.747000	0.68689	2.595000	0.87683	0.591000	0.81541	AGT		0.363	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3		NM_000110	Missense_Mutation
EPAS1	2034	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	46611722	46611723	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr2:46611722_46611723delGT	ENST00000263734.3	+	16	3046_3047	c.2536_2537delGT	c.(2536-2538)gtgfs	p.V846fs		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	846	CTAD.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TGACTGTGAGGTGAACGTGCCC	0.609																																																	0																																										SO:0001589	frameshift_variant	2034			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.2536_2537delGT	2.37:g.46611722_46611723delGT	ENSP00000263734:p.Val846fs		Q86VA2|Q99630	Frame_Shift_Del	DEL	ENST00000263734.3	37	CCDS1825.1																																																																																				0.609	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2		NM_001430	
ETF1	2107	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137846859	137846862	+	Frame_Shift_Del	DEL	GTGT	GTGT	-	rs377220516		TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	GTGT	GTGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr5:137846859_137846862delGTGT	ENST00000360541.5	-	8	1111_1114	c.890_893delACAC	c.(889-894)gacacgfs	p.DT297fs	ETF1_ENST00000503014.1_Frame_Shift_Del_p.DT283fs|ETF1_ENST00000499810.2_Frame_Shift_Del_p.DT264fs	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	297					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)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTACTTGCCCGTGTCCTGGCTGAT	0.377																																																	0																																										SO:0001589	frameshift_variant	2107			AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"""sup45 (yeast omnipotent suppressor 45) homolog-like 1"", ""polypeptide chain release factor 1"""	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.890_893delACAC	5.37:g.137846859_137846862delGTGT	ENSP00000353741:p.Asp297fs		B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Frame_Shift_Del	DEL	ENST00000360541.5	37	CCDS4207.1																																																																																				0.377	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251276.2		NM_004730	
FAM124A	220108	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	51826047	51826047	+	Missense_Mutation	SNP	A	A	T	rs538055450		TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr13:51826047A>T	ENST00000322475.8	+	3	679	c.544A>T	c.(544-546)Aac>Tac	p.N182Y	FAM124A_ENST00000280057.6_Missense_Mutation_p.N218Y	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	182								p.N218Y(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		TCGCTACGACAACTATGCTGA	0.577																																																	1	Substitution - Missense(1)	kidney(1)											47.0	45.0	46.0					13																	51826047		2203	4300	6503	SO:0001583	missense	220108			AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.544A>T	13.37:g.51826047A>T	ENSP00000324625:p.Asn182Tyr		A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	ENST00000322475.8	37	CCDS55900.1	.	.	.	.	.	.	.	.	.	.	A	15.50	2.852676	0.51270	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.54866	0.55;0.55	5.79	5.79	0.91817	.	0.137789	0.64402	D	0.000006	T	0.71239	0.3316	M	0.75085	2.285	0.44067	D	0.996818	D;D;D	0.67145	0.996;0.993;0.978	D;P;P	0.65874	0.939;0.858;0.804	T	0.75164	-0.3414	10	0.87932	D	0	-24.0251	15.3036	0.73976	1.0:0.0:0.0:0.0	.	182;218;182	Q86V42;Q86V42-2;Q86V42-3	F124A_HUMAN;.;.	Y	182;218	ENSP00000324625:N182Y;ENSP00000280057:N218Y	ENSP00000280057:N218Y	N	+	1	0	FAM124A	50724048	1.000000	0.71417	0.866000	0.34008	0.018000	0.09664	8.962000	0.93254	2.208000	0.71279	0.533000	0.62120	AAC		0.577	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3		NM_145019	
NXPE3	91775	broad.mit.edu	37	3	101520532	101520532	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr3:101520532G>T	ENST00000491511.2	+	5	1503	c.547G>T	c.(547-549)Gta>Tta	p.V183L	NXPE3_ENST00000422132.1_Missense_Mutation_p.V183L|NXPE3_ENST00000273347.5_Missense_Mutation_p.V183L|NXPE3_ENST00000477909.1_Missense_Mutation_p.V183L	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	183						extracellular region (GO:0005576)		p.V183L(1)									CAAAGTTAAAGTATCCGTATC	0.493																																																	1	Substitution - Missense(1)	kidney(1)											81.0	84.0	83.0					3																	101520532		2203	4300	6503	SO:0001583	missense	0			AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.547G>T	3.37:g.101520532G>T	ENSP00000417485:p.Val183Leu		A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	37	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884435	0.91814	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	5.73	5.73	0.89815	Immunoglobulin E-set (1);	0.000000	0.85682	D	0.000000	T	0.31451	0.0797	L	0.42529	1.33	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.00277	-1.1854	10	0.26408	T	0.33	-14.1294	20.2602	0.98440	0.0:0.0:1.0:0.0	.	183	Q969Y0	FA55C_HUMAN	L	183	ENSP00000273347:V183L;ENSP00000417485:V183L;ENSP00000418369:V183L;ENSP00000396421:V183L	ENSP00000273347:V183L	V	+	1	0	FAM55C	103003222	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	7.926000	0.87569	2.861000	0.98227	0.655000	0.94253	GTA		0.493	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2		NM_145037	
FANCB	2187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	14882777	14882777	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chrX:14882777C>A	ENST00000324138.3	-	2	1009	c.856G>T	c.(856-858)Gca>Tca	p.A286S	FANCB_ENST00000398334.1_Missense_Mutation_p.A286S	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	286					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)		p.A286S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					AGTTGAACTGCACAAGGATCT	0.393								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								1	Substitution - Missense(1)	kidney(1)											99.0	88.0	92.0					X																	14882777		2203	4300	6503	SO:0001583	missense	2187	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.856G>T	X.37:g.14882777C>A	ENSP00000326819:p.Ala286Ser		B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	ENST00000324138.3	37	CCDS14161.1	.	.	.	.	.	.	.	.	.	.	C	4.939	0.174534	0.09391	.	.	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	T;T;T	0.03124	4.04;4.04;4.04	5.43	0.566	0.17317	.	1.052620	0.07373	N	0.886154	T	0.03011	0.0089	L	0.38838	1.175	0.09310	N	1	B	0.19583	0.037	B	0.20184	0.028	T	0.49194	-0.8965	10	0.07030	T	0.85	-1.0452	4.4405	0.11572	0.4237:0.2786:0.0:0.2977	.	286	Q8NB91	FANCB_HUMAN	S	286	ENSP00000326819:A286S;ENSP00000381378:A286S;ENSP00000397849:A286S	ENSP00000326819:A286S	A	-	1	0	FANCB	14792698	0.352000	0.24895	0.133000	0.22050	0.993000	0.82548	0.383000	0.20651	-0.271000	0.09272	0.513000	0.50165	GCA		0.393	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1		NM_152633	
FLG2	388698	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	152323999	152323999	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr1:152323999C>G	ENST00000388718.5	-	3	6335	c.6263G>C	c.(6262-6264)gGa>gCa	p.G2088A	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2088					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G2088A(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGACTGTCCATGACCAGA	0.522																																																	1	Substitution - Missense(1)	kidney(1)											517.0	463.0	481.0					1																	152323999		2203	4300	6503	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6263G>C	1.37:g.152323999C>G	ENSP00000373370:p.Gly2088Ala		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270038	0.40194	.	.	ENSG00000143520	ENST00000388718	T	0.52057	0.68	4.69	1.66	0.24008	.	.	.	.	.	T	0.39118	0.1066	M	0.81497	2.545	0.09310	N	1	D	0.61080	0.989	P	0.52957	0.714	T	0.16660	-1.0395	9	0.39692	T	0.17	.	5.2299	0.15416	0.0:0.648:0.1682:0.1838	.	2088	Q5D862	FILA2_HUMAN	A	2088	ENSP00000373370:G2088A	ENSP00000373370:G2088A	G	-	2	0	FLG2	150590623	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.207000	0.09384	0.269000	0.21961	0.644000	0.83932	GGA		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5		NM_001014342	
FLNC	2318	broad.mit.edu;hgsc.bcm.edu	37	7	128484128	128484128	+	Missense_Mutation	SNP	T	T	G	rs184454068		TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr7:128484128T>G	ENST00000325888.8	+	20	3261	c.3000T>G	c.(2998-3000)gaT>gaG	p.D1000E	FLNC_ENST00000346177.6_Missense_Mutation_p.D1000E	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1000					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.D1000E(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCCAACTGGATGTGCGGATGA	0.652																																																	1	Substitution - Missense(1)	kidney(1)											44.0	50.0	48.0					7																	128484128		2125	4238	6363	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.3000T>G	7.37:g.128484128T>G	ENSP00000327145:p.Asp1000Glu		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	T	8.528	0.870355	0.17322	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84298	-1.83;-1.83	5.05	-1.85	0.07784	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.116898	0.56097	D	0.000037	T	0.68906	0.3052	N	0.20483	0.58	0.36666	D	0.878243	B;B	0.13594	0.004;0.008	B;B	0.20577	0.012;0.03	T	0.49943	-0.8885	10	0.20519	T	0.43	.	8.1446	0.31104	0.0:0.3941:0.1106:0.4953	.	1000;1000	Q14315-2;Q14315	.;FLNC_HUMAN	E	1000	ENSP00000327145:D1000E;ENSP00000344002:D1000E	ENSP00000327145:D1000E	D	+	3	2	FLNC	128271364	0.000000	0.05858	0.985000	0.45067	0.895000	0.52256	-2.213000	0.01224	-0.631000	0.05560	-0.624000	0.04008	GAT		0.652	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			
GGNBP2	79893	broad.mit.edu	37	17	34901611	34901611	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr17:34901611A>G	ENST00000304718.4	+	2	354	c.38A>G	c.(37-39)gAg>gGg	p.E13G	GGNBP2_ENST00000485685.2_Missense_Mutation_p.E13G|MYO19_ENST00000590081.1_5'Flank	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	13					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)		p.E13G(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GACGGGGAGGAGGAGTTCCCC	0.721																																																	1	Substitution - Missense(1)	kidney(1)											49.0	35.0	40.0					17																	34901611		2181	4277	6458	SO:0001583	missense	79893			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.38A>G	17.37:g.34901611A>G	ENSP00000307617:p.Glu13Gly		B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.958835	0.92726	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.0	5.0	0.66597	.	0.058451	0.64402	D	0.000003	T	0.63920	0.2552	L	0.55481	1.735	0.58432	D	0.999999	P;D	0.56968	0.936;0.978	P;P	0.53313	0.723;0.549	T	0.67369	-0.5688	9	0.59425	D	0.04	-12.2692	13.5754	0.61870	1.0:0.0:0.0:0.0	.	13;13	Q9H3C7;Q9H3C7-3	GGNB2_HUMAN;.	G	13	.	ENSP00000307617:E13G	E	+	2	0	GGNBP2	31975724	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.081000	0.89511	1.869000	0.54173	0.482000	0.46254	GAG		0.721	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2		NM_024835	
GOLGA6D	653643	broad.mit.edu	37	15	75586110	75586110	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr15:75586110C>T	ENST00000434739.3	+	15	1675	c.1634C>T	c.(1633-1635)aCg>aTg	p.T545M	RN7SL327P_ENST00000488659.2_RNA	NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	545						Golgi apparatus (GO:0005794)		p.T545M(1)		kidney(1)|lung(1)	2						GCGGACGGGACGGAGCAGGTG	0.622																																																	1	Substitution - Missense(1)	kidney(1)											1.0	1.0	1.0					15																	75586110		104	494	598	SO:0001583	missense	653643				CCDS45308.1	15q24.2	2013-05-10	2010-02-12	2009-09-04	ENSG00000140478	ENSG00000140478			32204	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6D"""				Standard	NM_001145224		Approved		uc010uma.2	P0CG33	OTTHUMG00000172672	ENST00000434739.3:c.1634C>T	15.37:g.75586110C>T	ENSP00000391085:p.Thr545Met			Missense_Mutation	SNP	ENST00000434739.3	37	CCDS45308.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592676	0.28357	.	.	ENSG00000140478	ENST00000434739	T	0.22336	1.96	1.63	0.447	0.16608	.	.	.	.	.	T	0.11067	0.0270	N	0.08118	0	0.20563	N	0.999882	D	0.63046	0.992	P	0.44772	0.46	T	0.18147	-1.0346	9	0.66056	D	0.02	.	5.944	0.19209	0.7298:0.2702:0.0:0.0	.	545	P0CG33	GOG6D_HUMAN	M	545	ENSP00000391085:T545M	ENSP00000391085:T545M	T	+	2	0	GOLGA6D	73373163	1.000000	0.71417	0.011000	0.14972	0.002000	0.02628	2.463000	0.45058	0.110000	0.17919	-1.026000	0.02426	ACG		0.622	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419798.1		NM_001145224	
GPR112	139378	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	135441581	135441581	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chrX:135441581G>A	ENST00000394143.1	+	11	7402	c.7111G>A	c.(7111-7113)Gta>Ata	p.V2371I	GPR112_ENST00000287534.4_Intron|GPR112_ENST00000394141.1_Missense_Mutation_p.V2166I|GPR112_ENST00000412101.1_Missense_Mutation_p.V2166I|GPR112_ENST00000370652.1_Missense_Mutation_p.V2371I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2371					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)	p.V2371I(1)		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)					GACGTTATTAGTAAACTGTGA	0.338																																																	1	Substitution - Missense(1)	kidney(1)											119.0	102.0	108.0					X																	135441581		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.7111G>A	X.37:g.135441581G>A	ENSP00000377699:p.Val2371Ile		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475128	0.43942	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000394141	T;T;T;T	0.34667	1.4;1.4;1.35;1.35	6.08	6.08	0.98989	.	.	.	.	.	T	0.41119	0.1145	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.83275	0.996;0.883	T	0.51395	-0.8711	9	0.72032	D	0.01	.	14.7421	0.69464	0.0:0.0:1.0:0.0	.	2166;2371	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	I	2371;2371;2166;2166	ENSP00000377699:V2371I;ENSP00000359686:V2371I;ENSP00000416526:V2166I;ENSP00000377697:V2166I	ENSP00000359686:V2371I	V	+	1	0	GPR112	135269247	0.978000	0.34361	0.261000	0.24466	0.016000	0.09150	2.021000	0.41020	2.562000	0.86427	0.600000	0.82982	GTA		0.338	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			
HACE1	57531	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	105298826	105298826	+	Silent	SNP	A	A	G			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr6:105298826A>G	ENST00000262903.4	-	3	453	c.177T>C	c.(175-177)taT>taC	p.Y59Y	HACE1_ENST00000369125.2_Silent_p.Y59Y	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	59					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)	p.Y59Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		GTCCGAATGCATAATTGACAT	0.318																																																	1	Substitution - coding silent(1)	kidney(1)											177.0	180.0	179.0					6																	105298826		2203	4300	6503	SO:0001819	synonymous_variant	57531			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.177T>C	6.37:g.105298826A>G			A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Silent	SNP	ENST00000262903.4	37	CCDS5050.1																																																																																				0.318	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2		XM_045095	
HIST2H3D	653604	broad.mit.edu;hgsc.bcm.edu	37	1	149785229	149785229	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr1:149785229C>T	ENST00000331491.1	-	1	7	c.8G>A	c.(7-9)cGt>cAt	p.R3H	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_5'Flank|HIST2H2BF_ENST00000427880.2_5'Flank|HIST2H2BF_ENST00000469483.1_5'Flank|HIST2H2BF_ENST00000369167.1_5'Flank	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	3					blood coagulation (GO:0007596)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						CTGCTTAGTACGGGCCATGCT	0.572																																																	0													31.0	32.0	32.0					1																	149785229		1565	3566	5131	SO:0001583	missense	653604			AL591493	CCDS41388.1	1q21.2	2012-03-08	2006-10-11		ENSG00000183598	ENSG00000183598		"""Histones / Replication-dependent"""	25311	protein-coding gene	gene with protein product			"""histone 2, H3d"""				Standard	NM_001123375		Approved		uc010pbl.2	Q71DI3	OTTHUMG00000012092	ENST00000331491.1:c.8G>A	1.37:g.149785229C>T	ENSP00000333277:p.Arg3His		A2BDF6|A6NFS4|Q6B053	Missense_Mutation	SNP	ENST00000331491.1	37	CCDS41388.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046860	0.75846	.	.	ENSG00000183598	ENST00000331491	T	0.46819	0.86	4.13	4.13	0.48395	.	0.000000	0.51477	U	0.000086	T	0.54983	0.1892	.	.	.	0.49051	D	0.999747	.	.	.	.	.	.	T	0.60525	-0.7246	7	0.62326	D	0.03	.	15.4963	0.75653	0.0:1.0:0.0:0.0	.	.	.	.	H	3	ENSP00000333277:R3H	ENSP00000333277:R3H	R	-	2	0	HIST2H3D	148051853	0.037000	0.19845	0.176000	0.23000	0.169000	0.22640	2.716000	0.47219	2.302000	0.77476	0.436000	0.28706	CGT		0.572	HIST2H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033452.1		NM_001123375	
IFITM2	10581	broad.mit.edu;hgsc.bcm.edu	37	11	308415	308415	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr11:308415A>C	ENST00000399817.4	+	1	253	c.223A>C	c.(223-225)Ata>Cta	p.I75L	IFITM2_ENST00000533141.1_Missense_Mutation_p.I55L|IFITM2_ENST00000602569.1_Missense_Mutation_p.I55L|RP11-326C3.7_ENST00000526612.1_RNA	NM_006435.2	NP_006426.2	Q01629	IFM2_HUMAN	interferon induced transmembrane protein 2	75					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I75L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCTGGGCTTCATAGCATTCGC	0.627																																																	1	Substitution - Missense(1)	kidney(1)											62.0	78.0	73.0					11																	308415		1960	4174	6134	SO:0001583	missense	10581			X57351	CCDS41583.1	11p15.5	2012-03-13	2012-03-13		ENSG00000185201	ENSG00000185201			5413	protein-coding gene	gene with protein product		605578	"""interferon induced transmembrane protein 2 (1-8D)"""			1906403	Standard	NM_006435		Approved	1-8D	uc001lox.4	Q01629		ENST00000399817.4:c.223A>C	11.37:g.308415A>C	ENSP00000382714:p.Ile75Leu		Q6FH82|Q96DA8	Missense_Mutation	SNP	ENST00000399817.4	37	CCDS41583.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.60|10.60	1.395830|1.395830	0.25205|0.25205	.|.	.|.	ENSG00000185201|ENSG00000185201	ENST00000399815|ENST00000533141;ENST00000399817;ENST00000327366	.|D;D	.|0.85556	.|-2.0;-2.0	2.59|2.59	-2.53|-2.53	0.06326|0.06326	.|.	.|1.356490	.|0.05925	.|N	.|0.634140	T|T	0.81226|0.81226	0.4778|0.4778	M|M	0.62209|0.62209	1.925|1.925	0.24303|0.24303	N|N	0.99511|0.99511	.|B	.|0.21381	.|0.055	.|B	.|0.30716	.|0.119	T|T	0.65635|0.65635	-0.6120|-0.6120	5|10	.|0.41790	.|T	.|0.15	-4.289|-4.289	3.4397|3.4397	0.07458|0.07458	0.3526:0.2186:0.4288:0.0|0.3526:0.2186:0.4288:0.0	.|.	.|75	.|Q01629	.|IFM2_HUMAN	P|L	3|55;75;73	.|ENSP00000434443:I55L;ENSP00000382714:I75L	.|ENSP00000327996:I73L	H|I	+|+	2|1	0|0	IFITM2|IFITM2	298415|298415	0.011000|0.011000	0.17503|0.17503	0.937000|0.937000	0.37676|0.37676	0.329000|0.329000	0.28539|0.28539	-0.431000|-0.431000	0.06965|0.06965	-0.220000|-0.220000	0.09988|0.09988	0.254000|0.254000	0.18369|0.18369	CAT|ATA		0.627	IFITM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383591.1		NM_006435	
IYD	389434	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	150715251	150715251	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr6:150715251G>C	ENST00000344419.3	+	4	687	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	IYD_ENST00000500320.3_Missense_Mutation_p.E183Q|IYD_ENST00000392256.2_Missense_Mutation_p.E183Q|IYD_ENST00000425615.3_Missense_Mutation_p.E128Q|IYD_ENST00000229447.5_Missense_Mutation_p.E183Q|IYD_ENST00000392255.3_Missense_Mutation_p.E183Q	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	183					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)	p.E183Q(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		CTGGATTAAAGAGTACTTGGA	0.343																																																	3	Substitution - Missense(3)	kidney(3)											79.0	77.0	78.0					6																	150715251		2203	4300	6503	SO:0001583	missense	389434			AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"""chromosome 6 open reading frame 71"""	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.547G>C	6.37:g.150715251G>C	ENSP00000343763:p.Glu183Gln		C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Missense_Mutation	SNP	ENST00000344419.3	37	CCDS5227.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775700	0.70107	.	.	ENSG00000009765	ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320;ENST00000425615	T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	6.17	6.17	0.99709	Nitroreductase-like (3);	0.101518	0.64402	D	0.000002	T	0.72946	0.3524	L	0.60957	1.885	0.80722	D	1	P;B;P;B	0.44309	0.832;0.353;0.817;0.355	P;B;B;B	0.50490	0.642;0.406;0.333;0.317	T	0.70160	-0.4948	10	0.44086	T	0.13	-31.0523	20.8794	0.99867	0.0:0.0:1.0:0.0	.	101;183;183;183	Q2VPV9;C9JFW2;Q6PHW0-3;Q6PHW0	.;.;.;IYD1_HUMAN	Q	183;183;183;183;183;128	ENSP00000229447:E183Q;ENSP00000343763:E183Q;ENSP00000376085:E183Q;ENSP00000376084:E183Q;ENSP00000441276:E183Q;ENSP00000390081:E128Q	ENSP00000229447:E183Q	E	+	1	0	IYD	150756944	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.252000	0.72447	2.941000	0.99782	0.655000	0.94253	GAG		0.343	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3		NM_203395	
KCNF1	3754	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	11053935	11053935	+	Silent	SNP	G	G	A			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr2:11053935G>A	ENST00000295082.1	+	1	1873	c.1383G>A	c.(1381-1383)gcG>gcA	p.A461A		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	461					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GGAAGGAGGCGCCGAGCTGCA	0.662																																																	0													16.0	22.0	20.0					2																	11053935		2200	4290	6490	SO:0001819	synonymous_variant	3754			AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.1383G>A	2.37:g.11053935G>A			O43527|Q585L3	Silent	SNP	ENST00000295082.1	37	CCDS1676.1																																																																																				0.662	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1		NM_002236	
KIR3DL1	3811	hgsc.bcm.edu;ucsc.edu	37	19	55341674	55341674	+	Frame_Shift_Del	DEL	T	T	-	rs200821495	byFrequency	TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr19:55341674delT	ENST00000391728.4	+	9	1312	c.1279delT	c.(1279-1281)ttgfs	p.L427fs	KIR3DL1_ENST00000326542.7_Frame_Shift_Del_p.L410fs|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Frame_Shift_Del_p.L332fs|KIR3DL1_ENST00000538269.1_Frame_Shift_Del_p.L427fs|KIR3DL1_ENST00000541392.1_Frame_Shift_Del_p.L410fs|KIR2DS4_ENST00000339924.8_RNA	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	427					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AGATACCATCTTGTACACGGA	0.512																																																	0													279.0	261.0	267.0					19																	55341674		2171	4171	6342	SO:0001589	frameshift_variant	3811			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1279delT	19.37:g.55341674delT	ENSP00000375608:p.Leu427fs		O43473|Q14946|Q16541	Frame_Shift_Del	DEL	ENST00000391728.4	37	CCDS42621.1																																																																																				0.512	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1		NM_013289	
LAMA5	3911	broad.mit.edu;hgsc.bcm.edu	37	20	60888399	60888399	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr20:60888399C>G	ENST00000252999.3	-	64	8842	c.8776G>C	c.(8776-8778)Gac>Cac	p.D2926H		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2926	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.D2926H(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CAAGGCCTGTCCACAGCCGTG	0.652																																																	1	Substitution - Missense(1)	kidney(1)											33.0	27.0	29.0					20																	60888399		2170	4275	6445	SO:0001583	missense	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.8776G>C	20.37:g.60888399C>G	ENSP00000252999:p.Asp2926His		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	21.7	4.195050	0.78902	.	.	ENSG00000130702	ENST00000252999	T	0.19669	2.13	4.23	4.23	0.50019	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.193112	0.44483	U	0.000454	T	0.37237	0.0996	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.19647	-1.0299	10	0.56958	D	0.05	.	16.2251	0.82285	0.0:1.0:0.0:0.0	.	2926	O15230	LAMA5_HUMAN	H	2926	ENSP00000252999:D2926H	ENSP00000252999:D2926H	D	-	1	0	LAMA5	60321794	1.000000	0.71417	0.768000	0.31515	0.902000	0.53008	4.953000	0.63624	1.904000	0.55121	0.550000	0.68814	GAC		0.652	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2		NM_005560	
LILRB5	10990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	54756788	54756788	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr19:54756788G>A	ENST00000316219.5	-	9	1524	c.1417C>T	c.(1417-1419)Ctc>Ttc	p.L473F	LILRB5_ENST00000449561.2_Missense_Mutation_p.L474F|LILRB5_ENST00000345866.6_Missense_Mutation_p.L374F|LILRB5_ENST00000450632.1_Missense_Mutation_p.L465F|CTD-2337J16.1_ENST00000595133.1_lincRNA	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	473					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.L465F(1)|p.L473F(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		aagaggaggaggaACAGCAGC	0.612																																																	2	Substitution - Missense(2)	kidney(2)											176.0	125.0	142.0					19																	54756788		2203	4300	6503	SO:0001583	missense	10990			AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1417C>T	19.37:g.54756788G>A	ENSP00000320390:p.Leu473Phe		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272775	0.40194	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00601	6.59;6.29;6.62;6.41	2.59	1.5	0.22942	.	87.521900	0.00465	N	0.000106	T	0.02571	0.0078	M	0.73598	2.24	0.09310	N	1	D;B;B;D	0.76494	0.999;0.314;0.004;0.999	D;B;B;D	0.66196	0.942;0.118;0.013;0.926	T	0.39563	-0.9608	10	0.62326	D	0.03	.	7.4619	0.27300	0.0:0.3034:0.6966:0.0	.	465;374;474;473	C9JMK7;O75023-2;O75023-3;O75023	.;.;.;LIRB5_HUMAN	F	473;465;474;374	ENSP00000320390:L473F;ENSP00000414225:L465F;ENSP00000406478:L474F;ENSP00000263430:L374F	ENSP00000320390:L473F	L	-	1	0	LILRB5	59448600	0.018000	0.18449	0.010000	0.14722	0.020000	0.10135	-0.002000	0.12924	0.610000	0.30035	0.585000	0.79938	CTC		0.612	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			
LIN28A	79727	broad.mit.edu	37	1	26737960	26737960	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr1:26737960C>T	ENST00000326279.6	+	2	229	c.115C>T	c.(115-117)Cac>Tac	p.H39Y	LIN28A_ENST00000254231.4_Missense_Mutation_p.H39Y	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	39	CSD.				germ cell development (GO:0007281)|miRNA catabolic process (GO:0010587)|negative regulation of glial cell differentiation (GO:0045686)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of translation (GO:0045727)|pre-miRNA processing (GO:0031054)|regulation of gene silencing by miRNA (GO:0060964)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						TCAGCTGCTGCACGGTGCGGG	0.721																																																	0													24.0	28.0	26.0					1																	26737960		2200	4298	6498	SO:0001583	missense	79727			AF521099	CCDS280.1	1p35.3	2013-01-09	2010-04-06	2010-04-06	ENSG00000131914	ENSG00000131914		"""Zinc fingers, CCHC domain containing"""	15986	protein-coding gene	gene with protein product		611043	"""lin-28 homolog (C. elegans)"""	LIN28		12798299	Standard	XM_006710899		Approved	LIN-28, FLJ12457, ZCCHC1, CSDD1	uc001bmj.3	Q9H9Z2	OTTHUMG00000003550	ENST00000326279.6:c.115C>T	1.37:g.26737960C>T	ENSP00000363314:p.His39Tyr			Missense_Mutation	SNP	ENST00000326279.6	37	CCDS280.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469821	0.43839	.	.	ENSG00000131914	ENST00000326279;ENST00000254231	T;T	0.43294	0.95;0.95	5.95	5.95	0.96441	Nucleic acid-binding, OB-fold-like (1);	0.064055	0.64402	D	0.000013	T	0.28863	0.0716	N	0.14661	0.345	0.35086	D	0.763851	D	0.54207	0.965	B	0.37833	0.259	T	0.42137	-0.9469	10	0.59425	D	0.04	.	19.0218	0.92919	0.0:1.0:0.0:0.0	.	39	Q9H9Z2	LN28A_HUMAN	Y	39	ENSP00000363314:H39Y;ENSP00000254231:H39Y	ENSP00000254231:H39Y	H	+	1	0	LIN28A	26610547	1.000000	0.71417	1.000000	0.80357	0.138000	0.21146	5.102000	0.64572	2.835000	0.97688	0.650000	0.86243	CAC		0.721	LIN28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009891.2		NM_024674	
LRRC37A3	374819	broad.mit.edu	37	17	62892204	62892204	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr17:62892204T>A	ENST00000584306.1	-	3	1702	c.1172A>T	c.(1171-1173)gAa>gTa	p.E391V	LRRC37A3_ENST00000319651.5_Missense_Mutation_p.E391V|LRRC37A3_ENST00000400877.3_Intron|RP11-927P21.1_ENST00000584959.1_RNA|LRRC37A3_ENST00000339474.5_Intron|RP11-927P21.1_ENST00000577938.1_RNA|RP11-927P21.1_ENST00000584131.1_RNA|LRRC37A3_ENST00000577487.1_5'Flank	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	391						integral component of membrane (GO:0016021)		p.E391V(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AACTGTGACTTCATGATGTTC	0.537																																																	1	Substitution - Missense(1)	kidney(1)											13.0	18.0	16.0					17																	62892204		1361	2799	4160	SO:0001583	missense	374819			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.1172A>T	17.37:g.62892204T>A	ENSP00000464535:p.Glu391Val		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	10.39	1.337642	0.24253	.	.	ENSG00000176809	ENST00000319651	T	0.64260	-0.09	2.63	-3.74	0.04385	.	.	.	.	.	T	0.61236	0.2331	M	0.75615	2.305	0.09310	N	1	D	0.53885	0.963	P	0.49451	0.611	T	0.55711	-0.8098	9	0.72032	D	0.01	.	3.3159	0.07032	0.194:0.39:0.0:0.4159	.	391	O60309	L37A3_HUMAN	V	391	ENSP00000325713:E391V	ENSP00000325713:E391V	E	-	2	0	LRRC37A3	60322666	0.044000	0.20184	0.000000	0.03702	0.206000	0.24218	0.154000	0.16343	-1.107000	0.03004	0.136000	0.15936	GAA		0.537	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1		NM_199340	
LYPLA1	10434	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	54978369	54978369	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr8:54978369C>T	ENST00000316963.3	-	3	299	c.106G>A	c.(106-108)Gga>Aga	p.G36R	LYPLA1_ENST00000522007.1_Intron|LYPLA1_ENST00000519926.1_5'UTR|LYPLA1_ENST00000343231.6_Missense_Mutation_p.G36R	NM_001279360.1|NM_006330.2	NP_001266289.1|NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I	36					fatty acid metabolic process (GO:0006631)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|nitric oxide metabolic process (GO:0046209)|protein depalmitoylation (GO:0002084)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	lysophospholipase activity (GO:0004622)|palmitoyl-(protein) hydrolase activity (GO:0008474)	p.G36R(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			TCTGCCCATCCGTGCCTGGTG	0.383																																																	1	Substitution - Missense(1)	kidney(1)											81.0	78.0	79.0					8																	54978369		2203	4300	6503	SO:0001583	missense	10434			AF081281	CCDS6157.1, CCDS64899.1, CCDS75738.1, CCDS75739.1	8q11.23-q12.1	2008-05-15			ENSG00000120992	ENSG00000120992	3.1.1.5		6737	protein-coding gene	gene with protein product		605599				10064899	Standard	NM_006330		Approved	LPL1	uc003xry.3	O75608	OTTHUMG00000164313	ENST00000316963.3:c.106G>A	8.37:g.54978369C>T	ENSP00000320043:p.Gly36Arg		O43202|Q9UQF9	Missense_Mutation	SNP	ENST00000316963.3	37	CCDS6157.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483894	0.84854	.	.	ENSG00000120992	ENST00000316963;ENST00000523751;ENST00000343231;ENST00000518546;ENST00000519926;ENST00000517297	T;T;T	0.24151	1.87;1.87;1.87	5.81	5.81	0.92471	Phospholipase/carboxylesterase/thioesterase (1);	0.049902	0.85682	D	0.000000	T	0.51702	0.1690	M	0.76002	2.32	0.80722	D	1	P;P;D	0.89917	0.939;0.953;1.0	P;P;D	0.67725	0.638;0.468;0.953	T	0.52426	-0.8577	10	0.87932	D	0	1.7784	16.9993	0.86377	0.0:1.0:0.0:0.0	.	36;36;36	B4DP64;O75608-2;O75608	.;.;LYPA1_HUMAN	R	36	ENSP00000320043:G36R;ENSP00000344477:G36R;ENSP00000428729:G36R	ENSP00000320043:G36R	G	-	1	0	LYPLA1	55140922	1.000000	0.71417	0.996000	0.52242	0.957000	0.61999	3.788000	0.55446	2.746000	0.94184	0.655000	0.94253	GGA		0.383	LYPLA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378238.1			
MAGI1	9223	broad.mit.edu;hgsc.bcm.edu	37	3	65425588	65425588	+	Silent	SNP	C	C	T	rs374381483|rs139785185		TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr3:65425588C>T	ENST00000497477.2	-	9	1235	c.1236G>A	c.(1234-1236)caG>caA	p.Q412Q	MAGI1_ENST00000330909.8_Silent_p.Q412Q|MAGI1_ENST00000402939.2_Silent_p.Q412Q|MAGI1_ENST00000483466.1_Silent_p.Q412Q|MAGI1_ENST00000470990.1_5'UTR			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	412	Poly-Gln.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgctgctgttgctgct	0.537											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								C	,,	0,4386		0,0,2193	59.0	59.0	59.0		1236,1236,1236	-0.3	0.1	3	dbSNP_134	59	6,8526		0,6,4260	no	coding-synonymous,coding-synonymous,coding-synonymous	MAGI1	NM_001033057.1,NM_004742.2,NM_015520.1	,,	0,6,6453	TT,TC,CC		0.0703,0.0,0.0464	,,	412/1463,412/1257,412/1288	65425588	6,12912	2193	4266	6459	SO:0001819	synonymous_variant	9223			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1236G>A	3.37:g.65425588C>T		1084	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37		.	.	.	.	.	.	.	.	.	.	C	1.644	-0.515844	0.04200	0.0	7.03E-4	ENSG00000151276	ENST00000460329	.	.	.	2.7	-0.305	0.12784	.	.	.	.	.	T	0.50222	0.1603	.	.	.	0.47511	D	0.999444	.	.	.	.	.	.	T	0.34675	-0.9819	4	.	.	.	.	4.9509	0.14013	0.0:0.4601:0.2291:0.3109	.	.	.	.	N	293	.	.	S	-	2	0	MAGI1	65400628	0.923000	0.31300	0.067000	0.19924	0.012000	0.07955	0.342000	0.19926	-0.240000	0.09696	-0.808000	0.03180	AGC		0.537	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2		NM_004742	
MEOX1	4222	broad.mit.edu;hgsc.bcm.edu	37	17	41738797	41738797	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr17:41738797G>T	ENST00000318579.4	-	1	525	c.106C>A	c.(106-108)Ccc>Acc	p.P36T	MEOX1_ENST00000329168.3_Missense_Mutation_p.P36T|MEOX1_ENST00000393661.2_Intron|MEOX1_ENST00000549132.1_Nonsense_Mutation_p.Y6*	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	36					multicellular organismal development (GO:0007275)|somite specification (GO:0001757)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P36T(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		GGGTAGTGGGGTAGCCCTGAG	0.672																																																	1	Substitution - Missense(1)	kidney(1)											21.0	27.0	25.0					17																	41738797		2191	4291	6482	SO:0001583	missense	4222				CCDS11466.1, CCDS11467.1, CCDS42343.1	17q21.31	2014-07-15	2005-12-22					"""Homeoboxes / ANTP class : HOXL subclass"""	7013	protein-coding gene	gene with protein product		600147	"""mesenchyme homeo box 1"""			7987315	Standard	NM_013999		Approved	MOX1	uc002idz.3	P50221	OTTHUMG00000170513	ENST00000318579.4:c.106C>A	17.37:g.41738797G>T	ENSP00000321684:p.Pro36Thr		A8K524|A8MWF9|Q15069	Missense_Mutation	SNP	ENST00000318579.4	37	CCDS11466.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.397277|5.397277	0.96009|0.96009	.|.	.|.	ENSG00000005102|ENSG00000005102	ENST00000318579;ENST00000329168|ENST00000549132	D;T|.	0.90620|.	-2.7;0.95|.	4.68|4.68	3.68|3.68	0.42216|0.42216	.|.	0.578526|.	0.18278|.	N|.	0.146111|.	T|.	0.32466|.	0.0830|.	L|L	0.44542|0.44542	1.39|1.39	0.22796|0.22796	N|N	0.998727|0.998727	B;B|.	0.34181|.	0.386;0.44|.	B;B|.	0.31101|.	0.124;0.118|.	T|.	0.22034|.	-1.0228|.	10|.	0.33141|0.13853	T|T	0.24|0.58	-18.6574|-18.6574	5.1692|5.1692	0.15101|0.15101	0.0823:0.1417:0.6301:0.1459|0.0823:0.1417:0.6301:0.1459	.|.	36;36|.	Q15069;P50221|.	.;MEOX1_HUMAN|.	T|X	36|6	ENSP00000321684:P36T;ENSP00000328678:P36T|.	ENSP00000321684:P36T|ENSP00000449049:Y6X	P|Y	-|-	1|3	0|2	MEOX1|MEOX1	39094323|39094323	0.924000|0.924000	0.31332|0.31332	0.961000|0.961000	0.40146|0.40146	0.992000|0.992000	0.81027|0.81027	1.284000|1.284000	0.33249|0.33249	1.155000|1.155000	0.42497|0.42497	0.563000|0.563000	0.77884|0.77884	CCC|TAC		0.672	MEOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409452.1			
MITF	4286	broad.mit.edu;hgsc.bcm.edu	37	3	69987112	69987112	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr3:69987112G>A	ENST00000448226.2	+	3	621	c.494G>A	c.(493-495)gGc>gAc	p.G165D	MITF_ENST00000352241.4_Missense_Mutation_p.G165D|MITF_ENST00000314589.5_Missense_Mutation_p.G149D|MITF_ENST00000314557.6_Missense_Mutation_p.G58D|MITF_ENST00000472437.1_Missense_Mutation_p.G113D|MITF_ENST00000394351.3_Missense_Mutation_p.G58D|MITF_ENST00000328528.6_Missense_Mutation_p.G164D|MITF_ENST00000531774.1_Intron|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000394355.2_Missense_Mutation_p.G140D			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	165					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)	p.G58D(1)|p.G165D(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		AACCAGCCTGGCGATCATGTC	0.522			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""																														Melanoma(29;269 969 31479 41502 42961)			Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	2	Substitution - Missense(2)	kidney(2)											95.0	82.0	86.0					3																	69987112		2203	4300	6503	SO:0001583	missense	4286				CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.494G>A	3.37:g.69987112G>A	ENSP00000391803:p.Gly165Asp		B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	37		.	.	.	.	.	.	.	.	.	.	G	15.89	2.967182	0.53507	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000472437;ENST00000328528;ENST00000451708;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351	T;T;T;T;T;T;T;T;T	0.25579	2.62;2.14;2.4;2.61;1.8;2.61;2.61;2.38;1.79	5.69	5.69	0.88448	.	0.102741	0.64402	D	0.000002	T	0.38026	0.1025	L	0.46157	1.445	0.58432	D	0.999996	P;P;P;P;P;P;P	0.45902	0.61;0.868;0.868;0.868;0.868;0.605;0.696	B;P;P;P;P;P;B	0.51415	0.191;0.669;0.669;0.669;0.467;0.503;0.268	T	0.01162	-1.1432	9	.	.	.	.	19.8068	0.96534	0.0:0.0:1.0:0.0	.	113;58;58;140;149;164;165	E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.;.;.	D	165;165;113;164;149;149;140;58;58	ENSP00000295600:G165D;ENSP00000391803:G165D;ENSP00000418845:G113D;ENSP00000327867:G164D;ENSP00000398639:G149D;ENSP00000324443:G149D;ENSP00000377884:G140D;ENSP00000324246:G58D;ENSP00000377880:G58D	.	G	+	2	0	MITF	70069802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.876000	0.75556	2.658000	0.90341	0.655000	0.94253	GGC		0.522	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1		NM_198159	
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9070657	9070657	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr19:9070657C>T	ENST00000397910.4	-	3	16992	c.16789G>A	c.(16789-16791)Gtg>Atg	p.V5597M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5599	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.V5597L(2)|p.V5597M(2)|p.V1230L(1)|p.V1230M(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCTGAGACACGGTTGAATGA	0.532																																																	6	Substitution - Missense(6)	lung(3)|kidney(3)											128.0	119.0	122.0					19																	9070657		1964	4154	6118	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16789G>A	19.37:g.9070657C>T	ENSP00000381008:p.Val5597Met		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	1.558	-0.537491	0.04082	.	.	ENSG00000181143	ENST00000397910	T	0.24908	1.83	1.67	-3.34	0.04943	.	.	.	.	.	T	0.11452	0.0279	N	0.24115	0.695	.	.	.	B	0.32128	0.357	B	0.19391	0.025	T	0.13710	-1.0499	8	0.87932	D	0	.	2.3336	0.04241	0.4071:0.2891:0.0:0.3038	.	5597	B5ME49	.	M	5597	ENSP00000381008:V5597M	ENSP00000381008:V5597M	V	-	1	0	MUC16	8931657	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.370000	0.07523	-1.104000	0.03015	-0.701000	0.03672	GTG		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690	
MUC4	4585	broad.mit.edu	37	3	195505855	195505855	+	Missense_Mutation	SNP	G	G	T	rs201422998		TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr3:195505855G>T	ENST00000463781.3	-	2	13055	c.12596C>A	c.(12595-12597)tCc>tAc	p.S4199Y	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S4199Y|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					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)	p.S4199Y(6)		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)		GGATGCTGAGGAAGTGTCGGT	0.597																																																	6	Substitution - Missense(6)	kidney(4)|endometrium(2)																																								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	ENST00000463781.3:c.12596C>A	3.37:g.195505855G>T	ENSP00000417498:p.Ser4199Tyr		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	1.831	-0.469745	0.04445	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.36340	1.26;1.38	.	.	.	.	.	.	.	.	T	0.36826	0.0981	N	0.19112	0.55	0.19300	N	0.999978	D	0.57571	0.98	D	0.66847	0.947	T	0.18241	-1.0343	7	.	.	.	.	6.6097	0.22745	2.0E-4:0.0:0.9998:0.0	.	4071	E7ESK3	.	Y	4199	ENSP00000417498:S4199Y;ENSP00000420243:S4199Y	.	S	-	2	0	MUC4	196990634	0.001000	0.12720	0.030000	0.17652	0.035000	0.12851	-0.256000	0.08757	0.452000	0.26830	0.074000	0.15403	TCC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC4	4585	broad.mit.edu	37	3	195505872	195505872	+	Silent	SNP	A	A	C			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr3:195505872A>C	ENST00000463781.3	-	2	13038	c.12579T>G	c.(12577-12579)ctT>ctG	p.L4193L	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.L4193L|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					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)	p.L4193L(1)		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)		CGGTGACAGGAAGAGGGGTGG	0.602																																																	1	Substitution - coding silent(1)	kidney(1)											21.0	15.0	17.0					3																	195505872		689	1579	2268	SO:0001819	synonymous_variant	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	ENST00000463781.3:c.12579T>G	3.37:g.195505872A>C			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	CCDS54700.1																																																																																				0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC4	4585	broad.mit.edu	37	3	195505874	195505874	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr3:195505874G>C	ENST00000463781.3	-	2	13036	c.12577C>G	c.(12577-12579)Ctt>Gtt	p.L4193V	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L4193V|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					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)	p.L4193V(1)		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)		GTGACAGGAAGAGGGGTGGTG	0.602																																																	1	Substitution - Missense(1)	kidney(1)											21.0	15.0	17.0					3																	195505874		689	1580	2269	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	ENST00000463781.3:c.12577C>G	3.37:g.195505874G>C	ENSP00000417498:p.Leu4193Val		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.230	-1.021560	0.02061	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.33865	1.42;1.39	.	.	.	.	.	.	.	.	T	0.26629	0.0651	N	0.19112	0.55	0.09310	N	1	P	0.43973	0.823	P	0.48952	0.596	T	0.10245	-1.0638	7	.	.	.	.	3.3879	0.07278	1.0E-4:1.0E-4:0.5468:0.453	.	4065	E7ESK3	.	V	4193	ENSP00000417498:L4193V;ENSP00000420243:L4193V	.	L	-	1	0	MUC4	196990653	0.000000	0.05858	0.128000	0.21923	0.050000	0.14768	-0.106000	0.10890	0.452000	0.26830	0.074000	0.15403	CTT		0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195510060	195510107	+	In_Frame_Del	DEL	GTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGC	GTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGC	-	rs200190375|rs200366897|rs200663432|rs550853768|rs560632835|rs557762770|rs546803078|rs7375093|rs199854975|rs201999503|rs199610793	byFrequency	TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	GTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGC	GTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr3:195510060_195510107delGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGC	ENST00000463781.3	-	2	8803_8850	c.8344_8391delGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACAGGTCAC	c.(8344-8391)gccacccctcttcatgtcaccagcccttcctcagcatccacaggtcacdel	p.ATPLHVTSPSSASTGH2782del	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.ATPLHVTSPSSASTGH2782del|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					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)	p.H2797D(1)		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)		GAGGGGTGGTGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTG	0.585																																																	1	Substitution - Missense(1)	kidney(1)																																								SO:0001651	inframe_deletion	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	ENST00000463781.3:c.8344_8391delGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACAGGTCAC	3.37:g.195510060_195510107delGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGC	ENSP00000417498:p.Ala2782_His2797del		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				0.585	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
NHSL2	340527	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	71360504	71360504	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chrX:71360504A>G	ENST00000373677.1	+	2	3270	c.2008A>G	c.(2008-2010)Atc>Gtc	p.I670V	NHSL2_ENST00000510661.1_Missense_Mutation_p.I805V|NHSL2_ENST00000535692.1_Missense_Mutation_p.I670V|NHSL2_ENST00000540800.1_Missense_Mutation_p.I1036V			Q5HYW2	NHSL2_HUMAN	NHS-like 2	670								p.I667V(1)|p.I1036V(1)		NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TCTCAGCCCCATCATCACCCT	0.557																																																	2	Substitution - Missense(2)	kidney(2)											54.0	53.0	53.0					X																	71360504		2203	4300	6503	SO:0001583	missense	340527					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.2008A>G	X.37:g.71360504A>G	ENSP00000362781:p.Ile670Val		B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37		.	.	.	.	.	.	.	.	.	.	A	15.21	2.765378	0.49574	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.50001	1.55;0.8;0.76;0.8	6.08	6.08	0.98989	.	0.065234	0.64402	D	0.000016	T	0.62974	0.2472	L	0.54323	1.7	0.34530	D	0.709149	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.77557	0.99;0.99;0.99	T	0.72374	-0.4313	10	0.42905	T	0.14	-14.7661	13.2767	0.60191	1.0:0.0:0.0:0.0	.	1036;805;670	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	V	1036;670;805;670	ENSP00000444617:I1036V;ENSP00000362781:I670V;ENSP00000424079:I805V;ENSP00000444914:I670V	ENSP00000362781:I670V	I	+	1	0	NHSL2	71277229	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.629000	0.46485	2.044000	0.60594	0.486000	0.48141	ATC		0.557	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1		NM_001013627	
NAP1L3	4675	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	92927545	92927545	+	Silent	SNP	T	T	C			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chrX:92927545T>C	ENST00000373079.3	-	1	1022	c.759A>G	c.(757-759)aaA>aaG	p.K253K	FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank|NAP1L3_ENST00000475430.2_Silent_p.K246K	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	253	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)		p.K253K(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GGGGGACTTCTTTAGGATCTT	0.428																																																	1	Substitution - coding silent(1)	kidney(1)											144.0	137.0	140.0					X																	92927545		2203	4300	6503	SO:0001819	synonymous_variant	4675				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.759A>G	X.37:g.92927545T>C			B2RCM0|O60788	Silent	SNP	ENST00000373079.3	37	CCDS14465.1																																																																																				0.428	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1		NM_004538	
POLR2J4	84820	broad.mit.edu	37	7	44026251	44026251	+	RNA	SNP	T	T	C	rs75823018		TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr7:44026251T>C	ENST00000427076.1	-	0	842				RP5-1165K10.2_ENST00000454572.1_RNA	NR_003655.2				polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene																		ACGGGTCCTTTGTCATTCATC	0.602																																																	0																																												84820					7p13	2008-08-21			ENSG00000214783	ENSG00000214783			28195	pseudogene	pseudogene						15586814	Standard	NR_003655		Approved	MGC13098	uc010kxw.2		OTTHUMG00000155253		7.37:g.44026251T>C				Missense_Mutation	SNP	ENST00000427076.1	37																																																																																					0.602	POLR2J4-002	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473169.1		NR_003655	
PPP1R16B	26051	broad.mit.edu	37	20	37534706	37534706	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr20:37534706A>G	ENST00000299824.1	+	7	980	c.791A>G	c.(790-792)gAg>gGg	p.E264G	PPP1R16B_ENST00000373331.2_Intron	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	264					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.E264G(2)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GATGGCTGGGAGCCCCTGCAT	0.612																																																	2	Substitution - Missense(2)	kidney(2)											85.0	82.0	83.0					20																	37534706		2203	4300	6503	SO:0001583	missense	26051			AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.791A>G	20.37:g.37534706A>G	ENSP00000299824:p.Glu264Gly		A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	CCDS13309.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.336584	0.81801	.	.	ENSG00000101445	ENST00000299824	T	0.52526	0.66	5.55	5.55	0.83447	Ankyrin repeat-containing domain (3);	0.057504	0.64402	D	0.000001	T	0.44993	0.1320	N	0.03983	-0.305	0.80722	D	1	D	0.56035	0.974	D	0.63113	0.911	T	0.60100	-0.7329	10	0.66056	D	0.02	.	15.8615	0.79026	1.0:0.0:0.0:0.0	.	264	Q96T49	PP16B_HUMAN	G	264	ENSP00000299824:E264G	ENSP00000299824:E264G	E	+	2	0	PPP1R16B	36968120	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.693000	0.47027	2.333000	0.79357	0.533000	0.62120	GAG		0.612	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2		NM_015568	
PRSS16	10279	hgsc.bcm.edu	37	6	27218496	27218497	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr6:27218496_27218497insC	ENST00000230582.3	+	5	517_518	c.502_503insC	c.(502-504)tccfs	p.S168fs	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	168					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCTGGCACTTTCCCGCCTCTTT	0.629																																					NSCLC(178;1118 2105 17078 23587 44429)												0																																										SO:0001589	frameshift_variant	10279			AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.505dupC	6.37:g.27218499_27218499dupC	ENSP00000230582:p.Ser168fs		O75416	Frame_Shift_Ins	INS	ENST00000230582.3	37	CCDS4623.1																																																																																				0.629	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			
PTPRQ	374462	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	80890073	80890073	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr12:80890073G>A	ENST00000266688.5	+	19	2023	c.2023G>A	c.(2023-2025)Gca>Aca	p.A675T				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	721	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)	p.A675T(1)		breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						TGATGTTACCGCAGATGAAAT	0.343																																																	1	Substitution - Missense(1)	kidney(1)											55.0	52.0	53.0					12																	80890073		692	1591	2283	SO:0001583	missense	374462			AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.2023G>A	12.37:g.80890073G>A	ENSP00000266688:p.Ala675Thr			Missense_Mutation	SNP	ENST00000266688.5	37		.	.	.	.	.	.	.	.	.	.	G	8.508	0.865819	0.17250	.	.	ENSG00000139304	ENST00000266688	T	0.57273	0.41	5.83	1.42	0.22433	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41558	0.1164	.	.	.	0.27039	N	0.964055	P	0.44776	0.843	B	0.41571	0.36	T	0.19160	-1.0314	8	0.30078	T	0.28	.	10.4993	0.44796	0.0:0.2622:0.4504:0.2874	.	721	Q9UMZ3	PTPRQ_HUMAN	T	675	ENSP00000266688:A675T	ENSP00000266688:A675T	A	+	1	0	PTPRQ	79414204	1.000000	0.71417	0.107000	0.21349	0.077000	0.17291	1.558000	0.36309	0.313000	0.23062	-0.181000	0.13052	GCA		0.343	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001145026	
SACS	26278	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	23914058	23914059	+	Missense_Mutation	DNP	CT	CT	GG			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	C|T	C|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr13:23914058_23914059CT>GG	ENST00000382292.3	-	9	4229_4230	c.3956_3957AG>CC	c.(3955-3957)aAG>aCC	p.K1319T	SACS_ENST00000382298.3_Missense_Mutation_p.K1319T|SACS_ENST00000402364.1_Missense_Mutation_p.K569T			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1319					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.K1172T(1)|p.K1172N(1)|p.K1319T(1)|p.K1319N(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACCACAGACCTTAAATAGTTG	0.386																																																	4	Substitution - Missense(4)	kidney(4)																																								SO:0001583	missense	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.3956_3957delinsGG	13.37:g.23914058_23914059delinsGG	ENSP00000371729:p.Lys1319Thr		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2																																																																																				0.386	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3		NM_014363	
SERPINI1	5274	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	167540830	167540830	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr3:167540830G>A	ENST00000295777.5	+	7	1467	c.1036G>A	c.(1036-1038)Gaa>Aaa	p.E346K	SERPINI1_ENST00000488374.1_3'UTR|SERPINI1_ENST00000446050.2_Missense_Mutation_p.E346K	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	346					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E346K(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						AGAGGTTAATGAAGAAGGCTC	0.373																																																	1	Substitution - Missense(1)	kidney(1)											77.0	79.0	78.0					3																	167540830		2203	4300	6503	SO:0001583	missense	5274			Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.1036G>A	3.37:g.167540830G>A	ENSP00000295777:p.Glu346Lys		A8K217|D3DNP1|Q6AHZ4	Missense_Mutation	SNP	ENST00000295777.5	37	CCDS3203.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923848	0.92319	.	.	ENSG00000163536	ENST00000446050;ENST00000295777;ENST00000466979	D;D	0.91894	-2.93;-2.93	5.24	5.24	0.73138	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.98021	0.9348	H	0.99197	4.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99818	1.1045	10	0.87932	D	0	.	17.6186	0.88074	0.0:0.0:1.0:0.0	.	346	Q99574	NEUS_HUMAN	K	346;346;94	ENSP00000397373:E346K;ENSP00000295777:E346K	ENSP00000295777:E346K	E	+	1	0	SERPINI1	169023524	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.112000	0.77086	2.441000	0.82636	0.555000	0.69702	GAA		0.373	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1			
SETD1A	9739	hgsc.bcm.edu	37	16	30975991	30975992	+	Frame_Shift_Ins	INS	-	-	C	rs76624905|rs146035438		TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr16:30975991_30975992insC	ENST00000262519.8	+	7	1614_1615	c.928_929insC	c.(928-930)tccfs	p.S310fs		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	310	Ser-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.S310F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AGATGCCTTTTCCCGCCGCCAC	0.599																																																	1	Substitution - Missense(1)	skin(1)																																								SO:0001589	frameshift_variant	9739			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.931dupC	16.37:g.30975994_30975994dupC	ENSP00000262519:p.Ser310fs		A6NP62|Q6PIF3|Q8TAJ6	Frame_Shift_Ins	INS	ENST00000262519.8	37	CCDS32435.1																																																																																				0.599	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2		NM_014712	
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47125280	47125289	+	Frame_Shift_Del	DEL	TCTTGGCTCC	TCTTGGCTCC	-			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	TCTTGGCTCC	TCTTGGCTCC	TCTTGGCTCC	-	TCTTGGCTCC	TCTTGGCTCC	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr3:47125280_47125289delTCTTGGCTCC	ENST00000409792.3	-	12	6023_6032	c.5981_5990delGGAGCCAAGA	c.(5980-5991)aggagccaagaafs	p.RSQE1994fs	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1994					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATCTGGCTGTTCTTGGCTCCTTTCACTCTC	0.433			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0																																										SO:0001589	frameshift_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5981_5990delGGAGCCAAGA	3.37:g.47125280_47125289delTCTTGGCTCC	ENSP00000386759:p.Arg1994fs		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	37	CCDS2749.2																																																																																				0.433	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159	
SGK1	6446	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	134495196	134495196	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr6:134495196T>C	ENST00000237305.7	-	3	263	c.175A>G	c.(175-177)Aag>Gag	p.K59E	SGK1_ENST00000367857.5_Missense_Mutation_p.K49E|SGK1_ENST00000413996.3_Missense_Mutation_p.K73E|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000367858.5_Missense_Mutation_p.K154E|SGK1_ENST00000475719.2_Missense_Mutation_p.K59E|SGK1_ENST00000528577.1_Missense_Mutation_p.K87E	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	59	Necessary for localization to the mitochondria.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)	p.K87E(1)|p.K59E(1)|p.K154E(1)|p.K49E(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGGGAGATCTTCAAGATGGAC	0.498																																																	4	Substitution - Missense(4)	kidney(4)											137.0	129.0	132.0					6																	134495196		2203	4300	6503	SO:0001583	missense	6446			AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.175A>G	6.37:g.134495196T>C	ENSP00000237305:p.Lys59Glu		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000237305.7	37	CCDS5170.1	.	.	.	.	.	.	.	.	.	.	T	18.73	3.686571	0.68157	.	.	ENSG00000118515	ENST00000367858;ENST00000413996;ENST00000237305;ENST00000367857;ENST00000528577;ENST00000475719;ENST00000461976	T;T;T;T;T;T;T	0.33216	1.67;1.67;1.67;1.67;1.67;1.67;1.42	5.99	5.99	0.97316	.	0.043881	0.85682	D	0.000000	T	0.15696	0.0378	L	0.34521	1.04	0.80722	D	1	B;B;B;B;B;B	0.28605	0.13;0.167;0.019;0.077;0.217;0.019	B;B;B;B;B;B	0.31946	0.098;0.124;0.028;0.062;0.138;0.017	T	0.04678	-1.0934	10	0.32370	T	0.25	.	16.4943	0.84223	0.0:0.0:0.0:1.0	.	87;73;59;49;154;59	O00141-5;O00141-3;E9PR89;O00141-4;O00141-2;O00141	.;.;.;.;.;SGK1_HUMAN	E	154;73;59;49;87;59;123	ENSP00000356832:K154E;ENSP00000396242:K73E;ENSP00000237305:K59E;ENSP00000356831:K49E;ENSP00000434450:K87E;ENSP00000434302:K59E;ENSP00000435577:K123E	ENSP00000237305:K59E	K	-	1	0	SGK1	134536889	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.698000	0.84413	2.291000	0.77112	0.533000	0.62120	AAG		0.498	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			
STAU2	27067	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	74527933	74527934	+	De_novo_Start_OutOfFrame	DNP	GC	GC	CA	rs553119352|rs571026183		TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr8:74527933_74527934GC>CA	ENST00000521451.1	-	0	370_371				STAU2_ENST00000521210.1_Missense_Mutation_p.114_115KR>NG|STAU2_ENST00000522509.1_Missense_Mutation_p.186_187KR>NG|STAU2_ENST00000519961.1_Missense_Mutation_p.218_219KR>NG|STAU2_ENST00000524300.1_Missense_Mutation_p.218_219KR>NG|STAU2_ENST00000355780.5_Missense_Mutation_p.186_187KR>NG|STAU2_ENST00000523558.1_Missense_Mutation_p.46_47KR>NG|STAU2_ENST00000517542.1_Missense_Mutation_p.180_181KR>NG|STAU2_ENST00000521727.1_Missense_Mutation_p.198_199KR>NG|STAU2_ENST00000522695.1_Missense_Mutation_p.186_187KR>NG			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2						transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.R115G(1)|p.K218N(1)|p.K186N(1)|p.R187G(1)|p.R219G(1)|p.K114N(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GGCATATTTCGCTTCAGAGCAA	0.356																																																	6	Substitution - Missense(6)	kidney(6)																																										27067			Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521451.1:c.1_1delinsCA	8.37:g.74527933_74527934delinsCA			B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Missense_Mutation	SNP	ENST00000521451.1	37																																																																																					0.356	STAU2-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000379006.4		NM_001164380	
SUSD2	56241	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	24580140	24580140	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr22:24580140A>C	ENST00000358321.3	+	4	737	c.476A>C	c.(475-477)gAg>gCg	p.E159A		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	159					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.E159A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GAGAAGAGCGAGTTGGTGAAC	0.617																																																	1	Substitution - Missense(1)	kidney(1)											160.0	117.0	132.0					22																	24580140		2203	4300	6503	SO:0001583	missense	56241			AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.476A>C	22.37:g.24580140A>C	ENSP00000351075:p.Glu159Ala		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.808264	0.00606	.	.	ENSG00000099994	ENST00000358321	T	0.08008	3.14	3.6	1.33	0.21861	.	1.433850	0.04019	N	0.299396	T	0.05181	0.0138	N	0.19112	0.55	0.09310	N	1	B	0.22003	0.063	B	0.22386	0.039	T	0.34329	-0.9833	10	0.02654	T	1	-3.8408	5.014	0.14326	0.4509:0.3698:0.0:0.1793	.	159	Q9UGT4	SUSD2_HUMAN	A	159	ENSP00000351075:E159A	ENSP00000351075:E159A	E	+	2	0	SUSD2	22910140	0.002000	0.14202	0.034000	0.17996	0.002000	0.02628	0.729000	0.26028	0.114000	0.18032	-0.995000	0.02519	GAG		0.617	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1		NM_019601	
TAB3	257397	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	30849594	30849594	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chrX:30849594G>A	ENST00000378933.1	-	8	2266	c.2089C>T	c.(2089-2091)Cac>Tac	p.H697Y	TAB3_ENST00000288422.2_Missense_Mutation_p.H697Y|TAB3_ENST00000378930.3_Missense_Mutation_p.H697Y|TAB3_ENST00000378932.2_Missense_Mutation_p.H669Y	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	697					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.H697Y(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						AGTGCTGGGTGGTTAAGAAAG	0.502																																					Pancreas(164;1598 1985 29022 43301 49529)												1	Substitution - Missense(1)	kidney(1)											146.0	98.0	115.0					X																	30849594		2202	4300	6502	SO:0001583	missense	257397			AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.2089C>T	X.37:g.30849594G>A	ENSP00000368215:p.His697Tyr		A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427672	0.83667	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.64	5.64	0.86602	Zinc finger, RanBP2-type (3);	0.000000	0.85682	D	0.000000	T	0.63558	0.2521	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.91635	0.999;0.986	T	0.65800	-0.6080	10	0.87932	D	0	-3.8215	18.7077	0.91644	0.0:0.0:1.0:0.0	.	669;697	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	Y	697;697;697;669	ENSP00000368215:H697Y;ENSP00000368212:H697Y;ENSP00000288422:H697Y;ENSP00000368214:H669Y	ENSP00000288422:H697Y	H	-	1	0	TAB3	30759515	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.471000	0.97696	2.362000	0.80069	0.600000	0.82982	CAC		0.502	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1		NM_152787	
TDRD6	221400	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	46658611	46658611	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr6:46658611A>C	ENST00000316081.6	+	1	2746	c.2746A>C	c.(2746-2748)Aaa>Caa	p.K916Q	RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.K916Q	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	916					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)		p.K916Q(1)		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)			TGCATGGCAAAAAAATCTAGA	0.338																																																	1	Substitution - Missense(1)	kidney(1)											60.0	66.0	64.0					6																	46658611		2203	4300	6503	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.2746A>C	6.37:g.46658611A>C	ENSP00000346065:p.Lys916Gln		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	A	0.292	-0.979432	0.02197	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.15718	2.4;2.4	5.74	-4.0	0.04057	.	1.301080	0.04598	N	0.398073	T	0.02571	0.0078	N	0.19112	0.55	0.09310	N	1	B;B	0.19935	0.017;0.04	B;B	0.23574	0.047;0.032	T	0.41805	-0.9488	10	0.25106	T	0.35	-3.3051	3.8076	0.08783	0.5315:0.1889:0.1849:0.0948	.	916;916	F5H5M3;O60522	.;TDRD6_HUMAN	Q	916	ENSP00000443299:K916Q;ENSP00000346065:K916Q	ENSP00000346065:K916Q	K	+	1	0	TDRD6	46766570	0.000000	0.05858	0.002000	0.10522	0.113000	0.19764	-0.987000	0.03743	-0.734000	0.04843	0.528000	0.53228	AAA		0.338	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1		XM_166443	
TGFBRAP1	9392	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	105886106	105886106	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr2:105886106C>A	ENST00000393359.2	-	11	2455	c.2029G>T	c.(2029-2031)Ggc>Tgc	p.G677C	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.G677C			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	677					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TCATGCTCGCCCAGCTTCCCG	0.647																																					Esophageal Squamous(183;794 2019 9730 21801 48859)												0													24.0	24.0	24.0					2																	105886106		2203	4300	6503	SO:0001583	missense	9392			AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.2029G>T	2.37:g.105886106C>A	ENSP00000377027:p.Gly677Cys		A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082580	0.76528	.	.	ENSG00000135966	ENST00000393359;ENST00000258449;ENST00000543724	T;T	0.21932	1.98;1.98	5.54	4.64	0.57946	.	0.050983	0.85682	D	0.000000	T	0.49029	0.1533	M	0.81497	2.545	0.43421	D	0.995577	D;P	0.76494	0.999;0.732	D;P	0.71870	0.975;0.794	T	0.57021	-0.7882	10	0.72032	D	0.01	-18.1673	16.2274	0.82306	0.0:0.8668:0.1332:0.0	.	132;677	B3KMM9;Q8WUH2	.;TGFA1_HUMAN	C	677;677;132	ENSP00000377027:G677C;ENSP00000258449:G677C	ENSP00000258449:G677C	G	-	1	0	TGFBRAP1	105252538	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.487000	0.81328	1.305000	0.44909	0.462000	0.41574	GGC		0.647	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2		NM_004257	
TMPRSS6	164656	broad.mit.edu	37	22	37480371	37480371	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr22:37480371G>T	ENST00000346753.3	-	10	1303	c.1187C>A	c.(1186-1188)cCg>cAg	p.P396Q	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.P387Q|RP5-1170K4.7_ENST00000414203.2_RNA|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.P387Q|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.P387Q|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.P396Q	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	396	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CTGGGTGCACGGCAAATCATA	0.607																																																	0													142.0	90.0	108.0					22																	37480371		2203	4300	6503	SO:0001583	missense	164656			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1187C>A	22.37:g.37480371G>T	ENSP00000334962:p.Pro396Gln		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	G	1.791	-0.479535	0.04383	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000429068;ENST00000442782	T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13	4.57	1.3	0.21679	CUB (4);	0.568125	0.17459	N	0.173511	T	0.27134	0.0665	L	0.51422	1.61	0.09310	N	0.999992	D;D;P	0.64830	0.994;0.969;0.819	P;P;B	0.55615	0.78;0.54;0.339	T	0.08785	-1.0705	10	0.30854	T	0.27	.	7.7129	0.28688	0.2856:0.0:0.7144:0.0	.	396;387;396	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	Q	387;396;387;387;58;396	ENSP00000371211:P387Q;ENSP00000334962:P396Q;ENSP00000385453:P387Q;ENSP00000384964:P387Q;ENSP00000392433:P58Q;ENSP00000397691:P396Q	ENSP00000334962:P396Q	P	-	2	0	TMPRSS6	35810317	1.000000	0.71417	0.006000	0.13384	0.097000	0.18754	3.710000	0.54860	0.345000	0.23873	0.591000	0.81541	CCG		0.607	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1		NM_153609	
TNFAIP1	7126	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	26667402	26667402	+	Silent	SNP	C	C	T			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr17:26667402C>T	ENST00000226225.2	+	3	540	c.273C>T	c.(271-273)acC>acT	p.T91T	TNFAIP1_ENST00000544907.2_5'UTR|TNFAIP1_ENST00000583213.1_Intron	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	91	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				apoptotic process (GO:0006915)|cell migration (GO:0016477)|DNA replication (GO:0006260)|embryo development (GO:0009790)|immune response (GO:0006955)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleolus (GO:0005730)	GTP-Rho binding (GO:0017049)	p.T91T(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GAGATGACACCATCACCCTCC	0.507																																																	1	Substitution - coding silent(1)	kidney(1)											164.0	146.0	152.0					17																	26667402		2203	4300	6503	SO:0001819	synonymous_variant	7126				CCDS11227.1	17q22-q23	2013-01-09			ENSG00000109079	ENSG00000109079		"""BTB/POZ domain containing"""	11894	protein-coding gene	gene with protein product		191161		EDP1		2406243, 2233719	Standard	NM_021137		Approved	B61, B12, MGC2317, BTBD34	uc002hay.3	Q13829	OTTHUMG00000132501	ENST00000226225.2:c.273C>T	17.37:g.26667402C>T			B7Z6M4|Q5TZQ1	Silent	SNP	ENST00000226225.2	37	CCDS11227.1																																																																																				0.507	TNFAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255681.2		NM_021137	
TNXB	7148	broad.mit.edu	37	6	32064926	32064927	+	Frame_Shift_Del	DEL	CA	CA	-	rs150957138		TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr6:32064926_32064927delCA	ENST00000479795.1	-	3	843_844	c.703_704delTG	c.(703-705)tgcfs	p.C235fs	TNXB_ENST00000375244.3_Frame_Shift_Del_p.C235fs|TNXB_ENST00000375247.2_Frame_Shift_Del_p.C235fs			P22105	TENX_HUMAN	tenascin XB	235	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCTGCCCGGCACACACACACG	0.698																																																	0																																										SO:0001589	frameshift_variant	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.703_704delTG	6.37:g.32064934_32064935delCA	ENSP00000418248:p.Cys235fs		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Frame_Shift_Del	DEL	ENST00000479795.1	37																																																																																					0.698	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357059.1		NM_019105	
TP73	7161	hgsc.bcm.edu	37	1	3645988	3645989	+	Frame_Shift_Ins	INS	-	-	G	rs61736049|rs530995550	byFrequency	TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr1:3645988_3645989insG	ENST00000378295.4	+	10	1327_1328	c.1172_1173insG	c.(1171-1176)cagcagfs	p.Q392fs	TP73_ENST00000378285.1_Frame_Shift_Ins_p.Q343fs|TP73_ENST00000603362.1_Frame_Shift_Ins_p.Q392fs|TP73_ENST00000604479.1_Frame_Shift_Ins_p.Q392fs|TP73_ENST00000357733.3_Frame_Shift_Ins_p.Q392fs|TP73_ENST00000354437.4_Frame_Shift_Ins_p.Q392fs|TP73_ENST00000346387.4_Frame_Shift_Ins_p.Q392fs|TP73_ENST00000604074.1_Frame_Shift_Ins_p.Q392fs|TP73_ENST00000378288.4_Frame_Shift_Ins_p.Q343fs|TP73_ENST00000378290.4_Frame_Shift_Ins_p.Q321fs|TP73_ENST00000378280.1_Frame_Shift_Ins_p.Q343fs	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	392	Poly-Gln.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q391R(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		TCCTATCGGCAGCAGCAGCAGC	0.609																																																	1	Substitution - Missense(1)	lung(1)																																								SO:0001589	frameshift_variant	7161			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.1173dupG	1.37:g.3645989_3645989dupG	ENSP00000367545:p.Gln392fs		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Frame_Shift_Ins	INS	ENST00000378295.4	37	CCDS49.1																																																																																				0.609	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4		NM_005427	
TRIM41	90933	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	180651556	180651556	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr5:180651556G>C	ENST00000315073.5	+	1	1267	c.557G>C	c.(556-558)tGc>tCc	p.C186S	MIR4638_ENST00000581158.1_RNA|CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_Missense_Mutation_p.C186S	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	186					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.C186S(2)|p.C186Y(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCCCTCAGTGCCGAAAGAGC	0.637																																																	4	Substitution - Missense(4)	large_intestine(2)|kidney(2)											43.0	46.0	45.0					5																	180651556		2203	4300	6503	SO:0001583	missense	90933			AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19013	protein-coding gene	gene with protein product	"""RING-finger protein that interacts with C kinase"""	610530	"""tripartite motif-containing 41"""			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.557G>C	5.37:g.180651556G>C	ENSP00000320869:p.Cys186Ser		B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	ENST00000315073.5	37	CCDS4466.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297022	0.60086	.	.	ENSG00000146063	ENST00000351937;ENST00000315073;ENST00000421508	T;T	0.32272	1.46;1.46	5.08	5.08	0.68730	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.000000	0.64402	D	0.000019	T	0.67078	0.2855	H	0.95504	3.68	0.47994	D	0.99956	D;D;D	0.76494	0.999;0.99;0.99	D;P;D	0.70935	0.971;0.87;0.909	T	0.78588	-0.2146	10	0.87932	D	0	.	15.9814	0.80114	0.0:0.0:1.0:0.0	.	186;186;186	Q8WV44;Q8WV44-2;Q8WV44-4	TRI41_HUMAN;.;.	S	186;186;65	ENSP00000336749:C186S;ENSP00000320869:C186S	ENSP00000320869:C186S	C	+	2	0	TRIM41	180584162	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.632000	0.74281	2.345000	0.79718	0.491000	0.48974	TGC		0.637	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3		NM_201627	
PRSS3P2	154754	broad.mit.edu	37	7	142481271	142481271	+	RNA	SNP	A	A	C			TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr7:142481271A>C	ENST00000603901.1	+	0	345					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										AGCTCTCCACACCTGCCGTCA	0.537																																																	0													215.0	146.0	168.0					7																	142481271		684	1496	2180			0					7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481271A>C				Silent	SNP	ENST00000603901.1	37																																																																																					0.537	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1		NR_001296	
USP35	57558	hgsc.bcm.edu	37	11	77921393	77921402	+	Frame_Shift_Del	DEL	TGCTGCTCCG	TGCTGCTCCG	-	rs547090		TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	TGCTGCTCCG	TGCTGCTCCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr11:77921393_77921402delTGCTGCTCCG	ENST00000529308.1	+	10	2753_2762	c.2492_2501delTGCTGCTCCG	c.(2491-2502)ctgctgctccgcfs	p.LLLR831fs	USP35_ENST00000441408.2_Frame_Shift_Del_p.LLLR417fs|USP35_ENST00000530267.1_Frame_Shift_Del_p.LLLR399fs|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Frame_Shift_Del_p.LLLR562fs	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	831	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TCCATCCCCCTGCTGCTCCGCCTGCCACTG	0.624																																																	0																																										SO:0001589	frameshift_variant	57558			AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2492_2501delTGCTGCTCCG	11.37:g.77921393_77921402delTGCTGCTCCG	ENSP00000431876:p.Leu831fs			Frame_Shift_Del	DEL	ENST00000529308.1	37	CCDS41693.1																																																																																				0.624	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1		XM_290527	
SETD2	29072	ucsc.edu	37	3	47125288	47125289	+	Missense_Mutation	DNP	CC	CC	GT			TCGA-B8-4620-01A-02D-1386-10	TCGA-B8-4620-10A-01D-1251-10	C	C	C	G|T	C	C	Unknown	Valid	Somatic	.	WXS	PGM	.		Illumina HiSeq	2f50f3b5-e656-48ec-ba8e-b6af62465fa0	ddcc7f39-2b43-4f58-8286-b87f48a97fd7	g.chr3:47125288_47125289CC>GT	ENST00000409792.3	-	12	6023_6024	c.5981_5982GG>AC	c.(5980-5982)aGG>aAC	p.R1994N	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1994					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GTTCTTGGCTCCTTTCACTCTC	0.441			"""N, F, S, Mis"""		clear cell renal carcinoma																																	.		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0																																										SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5981_5982delinsGT	3.37:g.47125288_47125289delinsGT	ENSP00000386759:p.Arg1994Asn		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2																																																																																				0.441	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159	
KRTAP20-2	337976	broad.mit.edu;ucsc.edu	37	21	32007632	32007632	+	Missense_Mutation	SNP	T	T	G	rs8132721		TCGA-B8-4620-01A-01D-1553-08	TCGA-B8-4620-11A-01D-1553-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69686924-5a9f-4e07-9e6d-62a3435f9971	eb4eb312-f11f-4a33-bf85-bb0d4a294c54	g.chr21:32007632T>G	ENST00000330798.2	+	1	78	c.50T>G	c.(49-51)gTc>gGc	p.V17G		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	17			V -> G (in dbSNP:rs8132721).			intermediate filament (GO:0005882)		p.V17G(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						GGCTATGGAGTCCTGGGCGGT	0.537																																																	1	Substitution - Missense(1)	kidney(1)											197.0	159.0	172.0					21																	32007632		2203	4300	6503	SO:0001583	missense	337976			AP001708	CCDS13604.1	21q22.1	2006-03-13			ENSG00000184032	ENSG00000184032		"""Keratin associated proteins"""	18944	protein-coding gene	gene with protein product						12359730	Standard	NM_181616		Approved	KAP20.2	uc011adg.2	Q3LI61	OTTHUMG00000057786	ENST00000330798.2:c.50T>G	21.37:g.32007632T>G	ENSP00000330746:p.Val17Gly			Missense_Mutation	SNP	ENST00000330798.2	37	CCDS13604.1	.	.	.	.	.	.	.	.	.	.	G	3.806	-0.040607	0.07497	.	.	ENSG00000184032	ENST00000330798	T	0.06528	3.29	2.88	-0.109	0.13584	.	0.458821	0.15458	N	0.261281	T	0.04318	0.0119	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38757	-0.9646	9	0.87932	D	0	.	1.6402	0.02750	0.1142:0.1787:0.3416:0.3655	rs8132721;rs52833587;rs8132721	17	Q3LI61	KR202_HUMAN	G	17	ENSP00000330746:V17G	ENSP00000330746:V17G	V	+	2	0	KRTAP20-2	30929503	0.006000	0.16342	0.000000	0.03702	0.003000	0.03518	0.653000	0.24902	-0.294000	0.08973	-1.581000	0.00855	GTC		0.537	KRTAP20-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128238.3			
