#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
ADCK1	57143	broad.mit.edu	37	14	78397896	78397896	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr14:78397896delC	ENST00000238561.5	+	10	1341	c.1242delC	c.(1240-1242)ctcfs	p.L414fs	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Frame_Shift_Del_p.L346fs	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	421	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CCAACTACCTCCCCCAGATCA	0.607																																																	0													82.0	57.0	65.0					14																	78397896		2203	4300	6503	SO:0001589	frameshift_variant	57143			AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.1242delC	14.37:g.78397896delC	ENSP00000238561:p.Leu414fs		B3KUD5|Q6PD65|Q9UIE6	Frame_Shift_Del	DEL	ENST00000238561.5	37	CCDS9869.1																																																																																				0.607	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1		NM_020421	
ALAS1	211	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52233311	52233311	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr3:52233311T>G	ENST00000394965.2	+	3	414	c.54T>G	c.(52-54)ttT>ttG	p.F18L	ALAS1_ENST00000310271.2_Missense_Mutation_p.F18L|ALAS1_ENST00000469224.1_Missense_Mutation_p.F18L|ALAS1_ENST00000484952.1_Missense_Mutation_p.F18L	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	18					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)	p.F18L(1)		endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	CCCAGGCCTTTCTGCAGAAAG	0.542																																																	1	Substitution - Missense(1)	kidney(1)											70.0	67.0	68.0					3																	52233311		2203	4300	6503	SO:0001583	missense	211			X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.54T>G	3.37:g.52233311T>G	ENSP00000378416:p.Phe18Leu			Missense_Mutation	SNP	ENST00000394965.2	37	CCDS2847.1	.	.	.	.	.	.	.	.	.	.	T	15.40	2.822304	0.50739	.	.	ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000441729;ENST00000310271;ENST00000484952	D;D;D;D	0.97959	-4.63;-4.63;-4.63;-4.63	5.03	3.87	0.44632	5-aminolevulinate synthase presequence (1);	0.049440	0.85682	D	0.000000	D	0.94925	0.8359	L	0.57536	1.79	0.48452	D	0.999653	B;B	0.18741	0.03;0.03	B;B	0.24006	0.05;0.029	D	0.89077	0.3473	10	0.17369	T	0.5	-18.9771	5.9277	0.19122	0.0:0.3299:0.0:0.6701	.	35;18	B4DVA0;P13196	.;HEM1_HUMAN	L	18	ENSP00000417719:F18L;ENSP00000378416:F18L;ENSP00000309259:F18L;ENSP00000418779:F18L	ENSP00000309259:F18L	F	+	3	2	ALAS1	52208351	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.864000	0.27926	0.761000	0.33130	0.528000	0.53228	TTT		0.542	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			
AMICA1	120425	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118071315	118071315	+	Missense_Mutation	SNP	G	G	A	rs148107592		TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr11:118071315G>A	ENST00000356289.5	-	7	958	c.785C>T	c.(784-786)cCg>cTg	p.P262L	AMICA1_ENST00000533261.1_Missense_Mutation_p.P251L|AMICA1_ENST00000292067.7_Missense_Mutation_p.P252L|AMICA1_ENST00000526620.1_Missense_Mutation_p.P223L	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	262					blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)	p.P252L(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CAGGGCTGCCGGGGTCACCAG	0.522																																																	1	Substitution - Missense(1)	kidney(1)						G	LEU/PRO,LEU/PRO	0,4400		0,0,2200	71.0	74.0	73.0		785,755	3.1	0.0	11	dbSNP_134	73	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	AMICA1	NM_001098526.1,NM_153206.2	98,98	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	262/395,252/385	118071315	1,12991	2200	4296	6496	SO:0001583	missense	120425			AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"""Immunoglobulin superfamily / V-set domain containing"""	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.785C>T	11.37:g.118071315G>A	ENSP00000348635:p.Pro262Leu		B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Missense_Mutation	SNP	ENST00000356289.5	37	CCDS41723.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767226	0.69878	0.0	1.16E-4	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620	D;D;D;D	0.98493	-4.52;-4.45;-4.66;-4.96	5.12	3.14	0.36123	.	0.312733	0.23571	N	0.046743	D	0.95124	0.8420	L	0.29908	0.895	0.09310	N	0.999999	P;P;P;P;P	0.52463	0.921;0.921;0.921;0.921;0.953	B;B;B;B;P	0.49140	0.397;0.397;0.397;0.397;0.601	D	0.88793	0.3279	10	0.15499	T	0.54	-2.2563	5.7577	0.18182	0.0998:0.0:0.7068:0.1934	.	262;223;262;251;252	B4DVI6;E9PKK2;Q86YT9;E9PR26;Q86YT9-2	.;.;JAML1_HUMAN;.;.	L	262;252;251;223	ENSP00000348635:P262L;ENSP00000292067:P252L;ENSP00000436117:P251L;ENSP00000431218:P223L	ENSP00000292067:P252L	P	-	2	0	AMICA1	117576525	0.001000	0.12720	0.024000	0.17045	0.508000	0.34012	0.910000	0.28571	2.368000	0.80403	0.561000	0.74099	CCG		0.522	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2		NM_153206	
ARAP2	116984	hgsc.bcm.edu;ucsc.edu	37	4	36161108	36161108	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr4:36161108A>G	ENST00000303965.4	-	14	2951	c.2462T>C	c.(2461-2463)gTg>gCg	p.V821A		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	821					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						ATCCGGTTTCACTACAGCAGC	0.418																																																	0													72.0	72.0	72.0					4																	36161108		2203	4300	6503	SO:0001583	missense	116984			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.2462T>C	4.37:g.36161108A>G	ENSP00000302895:p.Val821Ala		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	A	5.121	0.207952	0.09704	.	.	ENSG00000047365	ENST00000303965	T	0.07908	3.15	6.08	6.08	0.98989	.	0.145674	0.45606	D	0.000355	T	0.08802	0.0218	L	0.51422	1.61	0.38615	D	0.951	B	0.22909	0.077	B	0.22152	0.038	T	0.21759	-1.0236	10	0.12430	T	0.62	.	10.9084	0.47094	0.9305:0.0:0.0695:0.0	.	821	Q8WZ64	ARAP2_HUMAN	A	821	ENSP00000302895:V821A	ENSP00000302895:V821A	V	-	2	0	ARAP2	35837503	1.000000	0.71417	0.985000	0.45067	0.283000	0.27025	4.913000	0.63341	2.333000	0.79357	0.482000	0.46254	GTG		0.418	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2		NM_015230	
ASNSD1	54529	broad.mit.edu;ucsc.edu	37	2	190532496	190532496	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr2:190532496C>G	ENST00000260952.4	+	5	1884	c.1471C>G	c.(1471-1473)Ctc>Gtc	p.L491V	ASNSD1_ENST00000607062.1_Missense_Mutation_p.L10V	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	491	Asparagine synthetase.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)	p.L491V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			ATAGGTAGTTCTCACTGGAAT	0.358																																																	1	Substitution - Missense(1)	kidney(1)											89.0	91.0	90.0					2																	190532496		2203	4300	6503	SO:0001583	missense	54529			AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.1471C>G	2.37:g.190532496C>G	ENSP00000260952:p.Leu491Val		D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	ENST00000260952.4	37	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369704	0.61624	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	T;T	0.69806	-0.43;-0.43	5.18	5.18	0.71444	Rossmann-like alpha/beta/alpha sandwich fold (1);Asparagine synthase (1);	0.068070	0.64402	D	0.000010	D	0.85548	0.5722	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88139	0.2843	10	0.59425	D	0.04	-7.0427	18.6908	0.91582	0.0:1.0:0.0:0.0	.	491	Q9NWL6	ASND1_HUMAN	V	491	ENSP00000260952:L491V;ENSP00000406790:L491V	ENSP00000260952:L491V	L	+	1	0	ASNSD1	190240741	1.000000	0.71417	0.905000	0.35620	0.967000	0.64934	3.689000	0.54706	2.406000	0.81754	0.561000	0.74099	CTC		0.358	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3		NM_019048	
ASXL1	171023	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	31015950	31015950	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr20:31015950C>G	ENST00000375687.4	+	5	696	c.272C>G	c.(271-273)tCt>tGt	p.S91C	ASXL1_ENST00000306058.5_Missense_Mutation_p.S86C|ASXL1_ENST00000542461.1_3'UTR|ASXL1_ENST00000470145.1_3'UTR	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	91					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.S91C(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTGCAGTGGTCTCGCCATCCA	0.502			"""F, N, Mis"""		"""MDS, CMML"""																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	1	Substitution - Missense(1)	kidney(1)											102.0	96.0	98.0					20																	31015950		2203	4300	6503	SO:0001583	missense	171023			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.272C>G	20.37:g.31015950C>G	ENSP00000364839:p.Ser91Cys		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004291	0.54254	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.16196	2.37;2.36	5.12	5.12	0.69794	.	0.185123	0.48286	D	0.000183	T	0.38401	0.1039	L	0.51422	1.61	0.48975	D	0.999735	D;D	0.89917	0.999;1.0	D;D	0.80764	0.992;0.994	T	0.06661	-1.0814	10	0.62326	D	0.03	-14.1038	18.7483	0.91802	0.0:1.0:0.0:0.0	.	86;91	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	C	91;91;91;81;86	ENSP00000364839:S91C;ENSP00000305119:S86C	ENSP00000305119:S86C	S	+	2	0	ASXL1	30479611	1.000000	0.71417	1.000000	0.80357	0.137000	0.21094	5.287000	0.65645	2.665000	0.90641	0.462000	0.41574	TCT		0.502	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2		NM_015338	
ATG4B	23192	broad.mit.edu;hgsc.bcm.edu	37	2	242606247	242606247	+	Silent	SNP	G	G	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr2:242606247G>T	ENST00000404914.3	+	8	829	c.726G>T	c.(724-726)acG>acT	p.T242T	ATG4B_ENST00000402096.1_Silent_p.T168T|ATG4B_ENST00000474739.2_Silent_p.T228T|ATG4B_ENST00000396411.3_Silent_p.T168T|ATG4B_ENST00000405546.3_Silent_p.T242T	NM_013325.4|NM_178326.2	NP_037457.3|NP_847896.1	Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	242					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|positive regulation of autophagy (GO:0010508)|positive regulation of protein catabolic process (GO:0045732)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)	p.T242T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		ACGTGGAGACGCTGAAGGTGG	0.622																																					Melanoma(78;458 1323 6342 12171 39523)												1	Substitution - coding silent(1)	kidney(1)											24.0	26.0	25.0					2																	242606247		2132	4209	6341	SO:0001819	synonymous_variant	23192			AB023160	CCDS46564.1, CCDS46565.1	2q37.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000168397	ENSG00000168397			20790	protein-coding gene	gene with protein product		611338	"""APG4 autophagy 4 homolog B (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog B (S. cerevisiae)"""	APG4B		12446702	Standard	NM_013325		Approved	Apg4B, KIAA0943, DKFZp586D1822, AUTL1	uc002wbv.3	Q9Y4P1	OTTHUMG00000151514	ENST00000404914.3:c.726G>T	2.37:g.242606247G>T			B7WNK2|Q53NU4|Q6ZUV8|Q8WYM9|Q96K07|Q96K96|Q96SZ1|Q9Y2F2	Silent	SNP	ENST00000404914.3	37	CCDS46564.1																																																																																				0.622	ATG4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322967.3		NM_013325	
ATXN7L1	222255	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	105254533	105254533	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr7:105254533G>T	ENST00000419735.3	-	10	2293	c.2248C>A	c.(2248-2250)Ctt>Att	p.L750I	ATXN7L1_ENST00000388807.4_Missense_Mutation_p.L410I|ATXN7L1_ENST00000477775.1_Missense_Mutation_p.L626I	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	750	Ser-rich.							p.L750I(1)		endometrium(1)|large_intestine(4)|lung(5)	10						TGGAGCGCAAGGGAGGGCACA	0.612																																																	1	Substitution - Missense(1)	kidney(1)											40.0	41.0	41.0					7																	105254533		692	1591	2283	SO:0001583	missense	222255			AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"""ataxin 7-like 4"""	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.2248C>A	7.37:g.105254533G>T	ENSP00000410759:p.Leu750Ile		A4D0Q2|B4DTS1|Q8N2T0	Missense_Mutation	SNP	ENST00000419735.3	37	CCDS47682.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822020	0.71028	.	.	ENSG00000146776	ENST00000419735;ENST00000477775;ENST00000484475;ENST00000388807;ENST00000472195	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	4.88	4.88	0.63580	.	0.103331	0.42548	D	0.000693	T	0.61413	0.2345	L	0.56769	1.78	0.42364	D	0.992428	D;D;D	0.71674	0.993;0.998;0.993	D;D;D	0.83275	0.987;0.996;0.967	T	0.58572	-0.7613	10	0.34782	T	0.22	.	18.2387	0.89958	0.0:0.0:1.0:0.0	.	636;626;750	A4D0Q3;Q9ULK2-3;Q9ULK2	.;.;AT7L1_HUMAN	I	750;626;451;410;626	ENSP00000410759:L750I;ENSP00000418476:L626I;ENSP00000418900:L451I;ENSP00000373459:L410I;ENSP00000419566:L626I	ENSP00000373459:L410I	L	-	1	0	ATXN7L1	105041769	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.018000	0.57174	2.523000	0.85059	0.655000	0.94253	CTT		0.612	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349037.2			
BBX	56987	broad.mit.edu;ucsc.edu	37	3	107463494	107463494	+	Silent	SNP	C	C	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr3:107463494C>T	ENST00000325805.8	+	8	974	c.687C>T	c.(685-687)tgC>tgT	p.C229C	BBX_ENST00000402543.1_Silent_p.C229C|BBX_ENST00000406780.1_Silent_p.C229C|BBX_ENST00000415149.2_Silent_p.C229C|BBX_ENST00000416476.2_Silent_p.C229C			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	229					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.C229C(1)		breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CTGGCACATGCAGGCCTGATG	0.343																																																	1	Substitution - coding silent(1)	kidney(1)											101.0	100.0	100.0					3																	107463494		2203	4300	6503	SO:0001819	synonymous_variant	56987			AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.687C>T	3.37:g.107463494C>T			A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Silent	SNP	ENST00000325805.8	37	CCDS46881.1																																																																																				0.343	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1		NM_020235	
BCORL1	63035	broad.mit.edu	37	X	129147823	129147823	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chrX:129147823A>C	ENST00000218147.7	+	4	1272	c.1075A>C	c.(1075-1077)Act>Cct	p.T359P	BCORL1_ENST00000540052.1_Missense_Mutation_p.T359P|BCORL1_ENST00000359304.2_Missense_Mutation_p.T359P|BCORL1_ENST00000303743.5_Missense_Mutation_p.T359P			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	359	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T359P(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						gcccatgcccactccaacccc	0.672																																																	1	Substitution - Missense(1)	kidney(1)											28.0	26.0	27.0					X																	129147823		2060	4065	6125	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.1075A>C	X.37:g.129147823A>C	ENSP00000218147:p.Thr359Pro		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	A	4.751	0.139594	0.09083	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.46819	0.87;1.24;0.86;0.87	4.34	3.17	0.36434	.	0.000000	0.34484	N	0.003931	T	0.23649	0.0572	N	0.08118	0	0.19300	N	0.999975	B;B	0.25441	0.126;0.077	B;B	0.31751	0.135;0.078	T	0.15435	-1.0437	9	.	.	.	-6.8384	3.9652	0.09428	0.5249:0.2647:0.2105:0.0	.	359;359	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	P	359	ENSP00000218147:T359P;ENSP00000307541:T359P;ENSP00000352253:T359P;ENSP00000437775:T359P	.	T	+	1	0	BCORL1	128975504	0.080000	0.21391	0.420000	0.26596	0.232000	0.25224	0.715000	0.25822	0.635000	0.30488	0.425000	0.28330	ACT		0.672	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1		NM_021946	
BPTF	2186	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	65955704	65955705	+	Missense_Mutation	DNP	GC	GC	AG			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr17:65955704_65955705GC>AG	ENST00000321892.4	+	26	8413_8414	c.8352_8353GC>AG	c.(8350-8355)atGCag>atAGag	p.2784_2785MQ>IE	BPTF_ENST00000424123.3_Missense_Mutation_p.2502_2503MQ>IE|BPTF_ENST00000335221.5_Missense_Mutation_p.2641_2642MQ>IE|BPTF_ENST00000306378.6_Missense_Mutation_p.2658_2659MQ>IE			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2784					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Q2642E(1)|p.M2641I(1)|p.M2658I(1)|p.Q2659E(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAGACCTGATGCAGTTGGCTCA	0.505																																																	4	Substitution - Missense(4)	kidney(4)																																								SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	Exception_encountered	17.37:g.65955704_65955705delinsAG	ENSP00000315454:p.M2784_Q2785delinsIE		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37																																																																																					0.505	BPTF-201	KNOWN	basic	protein_coding	protein_coding			NM_182641, NM_004459	
BRF2	55290	hgsc.bcm.edu;ucsc.edu	37	8	37704604	37704605	+	Frame_Shift_Ins	INS	-	-	AT	rs369612078	byFrequency	TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr8:37704604_37704605insAT	ENST00000220659.6	-	3	423_424	c.303_304insAT	c.(301-306)tatcggfs	p.R102fs	BRF2_ENST00000521170.1_3'UTR|BRF2_ENST00000520601.1_Frame_Shift_Ins_p.R102fs	NM_018310.3	NP_060780.2	P47974	TISD_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	0					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CCAGAGTGCCGATATGCCTGTT	0.545																																																	0																																										SO:0001589	frameshift_variant	55290			AF298153	CCDS6098.1	8p11.23	2013-05-29	2013-05-29		ENSG00000104221	ENSG00000104221			17298	protein-coding gene	gene with protein product		607013	"""BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like"""			11483580, 11564744	Standard	NM_018310		Approved	FLJ11052, BRFU, TFIIIB50	uc003xkk.3	Q9HAW0	OTTHUMG00000164025	ENST00000220659.6:c.302_303dupAT	8.37:g.37704607_37704608dupAT	ENSP00000220659:p.Arg102fs		Q53TB4|Q9BSJ3	Frame_Shift_Ins	INS	ENST00000220659.6	37	CCDS6098.1																																																																																				0.545	BRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376811.2		NM_018310	
C10orf12	26148	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	98743198	98743198	+	Missense_Mutation	SNP	T	T	G	rs149307894		TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr10:98743198T>G	ENST00000286067.2	+	1	2158	c.2051T>G	c.(2050-2052)gTa>gGa	p.V684G		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	684								p.V684G(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GTGAATGAGGTAGACAACGAA	0.512																																																	1	Substitution - Missense(1)	kidney(1)											78.0	69.0	72.0					10																	98743198		2203	4300	6503	SO:0001583	missense	26148			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.2051T>G	10.37:g.98743198T>G	ENSP00000286067:p.Val684Gly		Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	T	5.557	0.287554	0.10513	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.08008	3.14	5.67	-6.18	0.02085	.	1.732920	0.03694	N	0.247511	T	0.05364	0.0142	N	0.24115	0.695	0.20403	N	0.999905	B	0.02656	0.0	B	0.06405	0.002	T	0.39333	-0.9619	10	0.23891	T	0.37	0.5052	7.703	0.28634	0.0:0.2844:0.4198:0.2958	.	684	Q8N655	CJ012_HUMAN	G	684;518	ENSP00000286067:V684G	ENSP00000286067:V684G	V	+	2	0	C10orf12	98733188	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.683000	0.01934	-0.938000	0.03714	-0.337000	0.08149	GTA		0.512	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1		NM_015652	
CAPN12	147968	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39233680	39233680	+	Silent	SNP	C	C	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr19:39233680C>T	ENST00000328867.4	-	2	608	c.300G>A	c.(298-300)ggG>ggA	p.G100G	CAPN12_ENST00000601953.1_Intron	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	100	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.G100G(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CACCCAGGCTCCCCTGACACA	0.592																																																	1	Substitution - coding silent(1)	kidney(1)											76.0	66.0	69.0					19																	39233680		2203	4300	6503	SO:0001819	synonymous_variant	147968			BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.300G>A	19.37:g.39233680C>T				Silent	SNP	ENST00000328867.4	37	CCDS12519.1																																																																																				0.592	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			
CCDC73	493860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	32637578	32637578	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr11:32637578T>A	ENST00000335185.5	-	15	1326	c.1283A>T	c.(1282-1284)gAa>gTa	p.E428V	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	428								p.E428V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					CATATTTTCTTCCCTTATTTC	0.279																																																	1	Substitution - Missense(1)	kidney(1)											61.0	56.0	57.0					11																	32637578		1779	4053	5832	SO:0001583	missense	493860			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1283A>T	11.37:g.32637578T>A	ENSP00000335325:p.Glu428Val		Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	T	13.63	2.295043	0.40594	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.34	-1.6	0.08426	.	1.115670	0.06668	N	0.765632	T	0.19208	0.0461	N	0.19112	0.55	0.24807	N	0.992665	B;P	0.36535	0.16;0.557	B;B	0.33521	0.087;0.165	T	0.20240	-1.0281	9	0.26408	T	0.33	.	4.9665	0.14093	0.0:0.2724:0.3957:0.3319	.	418;428	Q6ZRK6-2;Q6ZRK6	.;CCD73_HUMAN	V	428	.	ENSP00000335325:E428V	E	-	2	0	CCDC73	32594154	0.185000	0.23213	0.647000	0.29507	0.719000	0.41307	-0.031000	0.12287	-0.042000	0.13535	0.477000	0.44152	GAA		0.279	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2		NM_001008391	
CDH11	1009	broad.mit.edu;hgsc.bcm.edu	37	16	65038638	65038638	+	Silent	SNP	C	C	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr16:65038638C>T	ENST00000268603.4	-	3	750	c.135G>A	c.(133-135)ggG>ggA	p.G45G	CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000566827.1_Intron|CDH11_ENST00000394156.3_Silent_p.G45G	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	45					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G45G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GTAGCACCTGCCCCTCCTTGC	0.652			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	1	Substitution - coding silent(1)	kidney(1)											49.0	41.0	43.0					16																	65038638		2202	4300	6502	SO:0001819	synonymous_variant	1009			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.135G>A	16.37:g.65038638C>T			A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	CCDS10803.1																																																																																				0.652	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1		NM_033664	
CEP164	22897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	117244472	117244472	+	Silent	SNP	G	G	A	rs199723361		TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr11:117244472G>A	ENST00000278935.3	+	10	1305	c.1158G>A	c.(1156-1158)ctG>ctA	p.L386L	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	386					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.L386L(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TCCAGGAACTGGAAATTAGTG	0.512																																																	1	Substitution - coding silent(1)	kidney(1)											169.0	151.0	157.0					11																	117244472		2201	4296	6497	SO:0001819	synonymous_variant	22897			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.1158G>A	11.37:g.117244472G>A			Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	ENST00000278935.3	37	CCDS31683.1																																																																																				0.512	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1		NM_014956	
COL2A1	1280	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	48376305	48376305	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr12:48376305C>T	ENST00000380518.3	-	34	2445	c.2281G>A	c.(2281-2283)Gct>Act	p.A761T	COL2A1_ENST00000337299.6_Missense_Mutation_p.A692T|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	761	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.A692T(1)|p.A761T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TTGGGCCCAGCGATACCAGCT	0.632																																																	2	Substitution - Missense(2)	kidney(2)											42.0	41.0	41.0					12																	48376305		2203	4300	6503	SO:0001583	missense	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.2281G>A	12.37:g.48376305C>T	ENSP00000369889:p.Ala761Thr		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662374	0.47572	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.93426	-3.22;-3.22	5.55	1.27	0.21489	.	0.302055	0.32081	N	0.006613	D	0.88016	0.6324	L	0.28608	0.87	0.28582	N	0.910091	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.79220	-0.1893	10	0.49607	T	0.09	.	14.242	0.65963	0.6334:0.3666:0.0:0.0	.	692;761	P02458-1;P02458	.;CO2A1_HUMAN	T	761;692;692	ENSP00000369889:A761T;ENSP00000338213:A692T	ENSP00000338213:A692T	A	-	1	0	COL2A1	46662572	0.002000	0.14202	0.341000	0.25589	0.959000	0.62525	-0.076000	0.11412	0.245000	0.21373	0.561000	0.74099	GCT		0.632	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2		NM_001844	
COL6A2	1292	broad.mit.edu;hgsc.bcm.edu	37	21	47545941	47545941	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr21:47545941C>T	ENST00000300527.4	+	26	2316	c.2212C>T	c.(2212-2214)Cgg>Tgg	p.R738W	COL6A2_ENST00000310645.5_Missense_Mutation_p.R738W|COL6A2_ENST00000397763.1_Missense_Mutation_p.R738W|COL6A2_ENST00000357838.4_Missense_Mutation_p.R738W|COL6A2_ENST00000409416.1_Missense_Mutation_p.R738W	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	738	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)		p.R738W(3)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCACGACCCTCGGGACGATGA	0.622																																																	3	Substitution - Missense(3)	kidney(3)											83.0	81.0	81.0					21																	47545941		2203	4300	6503	SO:0001583	missense	1292			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2212C>T	21.37:g.47545941C>T	ENSP00000300527:p.Arg738Trp		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417810	0.42918	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	4.05	4.05	0.47172	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.88533	0.6462	M	0.83384	2.64	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.90778	0.4677	10	0.72032	D	0.01	-13.324	16.2114	0.82164	0.0:1.0:0.0:0.0	.	738;738;738	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	W	738	ENSP00000300527:R738W;ENSP00000350497:R738W;ENSP00000312529:R738W;ENSP00000387115:R738W;ENSP00000380870:R738W	ENSP00000300527:R738W	R	+	1	2	COL6A2	46370369	0.998000	0.40836	0.100000	0.21137	0.479000	0.33129	3.914000	0.56401	1.808000	0.52836	0.491000	0.48974	CGG		0.622	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			
CPSF4	10898	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99045873	99045873	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr7:99045873A>T	ENST00000292476.5	+	3	294	c.284A>T	c.(283-285)gAg>gTg	p.E95V	ATP5J2-PTCD1_ENST00000437572.1_Intron|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000441580.1_Missense_Mutation_p.E42V|CPSF4_ENST00000471455.1_3'UTR|CPSF4_ENST00000451876.1_Missense_Mutation_p.E95V|CPSF4_ENST00000436336.2_Missense_Mutation_p.E95V|ATP5J2-PTCD1_ENST00000413834.1_Intron|ATP5J2_ENST00000466753.1_5'Flank			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	95					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E95V(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAGATGCCCGAGTGCTACTTC	0.577																																																	1	Substitution - Missense(1)	kidney(1)											137.0	103.0	114.0					7																	99045873		2203	4300	6503	SO:0001583	missense	10898				CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"""cleavage and polyadenylation specific factor 4, 30kD subunit"""			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.284A>T	7.37:g.99045873A>T	ENSP00000292476:p.Glu95Val		D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Missense_Mutation	SNP	ENST00000292476.5	37	CCDS5664.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.031271	0.93575	.	.	ENSG00000160917	ENST00000436336;ENST00000451876;ENST00000292476;ENST00000441580;ENST00000412686;ENST00000452047	T;T;T;T;T;T	0.43294	1.67;1.73;1.71;1.31;0.95;1.34	5.96	5.96	0.96718	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.58452	0.2123	L	0.49778	1.585	0.80722	D	1	D;D;P;D	0.89917	1.0;0.957;0.931;0.997	D;P;P;D	0.87578	0.998;0.828;0.566;0.919	T	0.51942	-0.8641	10	0.24483	T	0.36	-25.2744	16.4343	0.83869	1.0:0.0:0.0:0.0	.	42;95;95;95	B7Z7B0;O95639-3;O95639;O95639-2	.;.;CPSF4_HUMAN;.	V	95;95;95;42;42;62	ENSP00000395311:E95V;ENSP00000396060:E95V;ENSP00000292476:E95V;ENSP00000402224:E42V;ENSP00000401150:E42V;ENSP00000392584:E62V	ENSP00000292476:E95V	E	+	2	0	CPSF4	98883809	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	8.962000	0.93254	2.285000	0.76669	0.528000	0.53228	GAG		0.577	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1			
CSMD3	114788	broad.mit.edu;ucsc.edu	37	8	113237062	113237062	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr8:113237062A>G	ENST00000297405.5	-	71	11306	c.11062T>C	c.(11062-11064)Tca>Cca	p.S3688P	CSMD3_ENST00000343508.3_Missense_Mutation_p.S3648P|CSMD3_ENST00000352409.3_Missense_Mutation_p.S3618P|CSMD3_ENST00000455883.2_Missense_Mutation_p.S3519P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3688						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S3688P(1)|p.S3648P(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCTTCCACTGACTTTGCGTTG	0.443										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							2	Substitution - Missense(2)	kidney(2)											399.0	343.0	362.0					8																	113237062		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.11062T>C	8.37:g.113237062A>G	ENSP00000297405:p.Ser3688Pro		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	5.437	0.265799	0.10294	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.21734	2.27;2.27;2.28;1.99;2.29	5.8	4.62	0.57501	.	0.087890	0.48286	D	0.000198	T	0.20333	0.0489	N	0.05487	-0.04	0.41823	D	0.990035	P;P;D	0.76494	0.893;0.791;0.999	P;B;D	0.71656	0.624;0.342;0.974	T	0.05699	-1.0869	10	0.02654	T	1	.	12.9604	0.58455	0.8647:0.1353:0.0:0.0	.	3519;3688;3648	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	P	3648;3688;2958;3519;3618	ENSP00000345799:S3648P;ENSP00000297405:S3688P;ENSP00000341558:S2958P;ENSP00000412263:S3519P;ENSP00000343124:S3618P	ENSP00000297405:S3688P	S	-	1	0	CSMD3	113306238	0.999000	0.42202	0.816000	0.32577	0.976000	0.68499	1.502000	0.35704	0.986000	0.38683	0.482000	0.46254	TCA		0.443	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900	
CTNNA1	1495	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	138163310	138163310	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr5:138163310C>T	ENST00000302763.7	+	7	1055	c.965C>T	c.(964-966)tCg>tTg	p.S322L	CTNNA1_ENST00000355078.5_Missense_Mutation_p.S219L|CTNNA1_ENST00000518825.1_Missense_Mutation_p.S322L	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	322					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)	p.S322L(1)		NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATGGCCGACTCGTCCTGCACG	0.582																																																	1	Substitution - Missense(1)	kidney(1)											108.0	95.0	99.0					5																	138163310		2203	4300	6503	SO:0001583	missense	1495			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.965C>T	5.37:g.138163310C>T	ENSP00000304669:p.Ser322Leu		Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	C	33	5.227050	0.95173	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825	T;T;T	0.38722	1.12;1.12;1.12	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.64724	0.2624	M	0.79926	2.475	0.80722	D	1	D;D;D	0.61080	0.985;0.989;0.98	P;P;P	0.58077	0.743;0.832;0.692	T	0.65672	-0.6111	10	0.52906	T	0.07	-7.3413	19.8512	0.96741	0.0:1.0:0.0:0.0	.	322;199;322	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	L	219;322;322;307;322	ENSP00000347190:S219L;ENSP00000304669:S322L;ENSP00000427821:S322L	ENSP00000304669:S322L	S	+	2	0	CTNNA1	138191209	1.000000	0.71417	0.947000	0.38551	0.742000	0.42306	7.776000	0.85560	2.797000	0.96272	0.563000	0.77884	TCG		0.582	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1		NM_001903	
DCST1	149095	hgsc.bcm.edu	37	1	155023256	155023256	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr1:155023256G>A	ENST00000295542.1	+	17	2129	c.2033G>A	c.(2032-2034)cGg>cAg	p.R678Q	ADAM15_ENST00000368413.1_5'Flank|ADAM15_ENST00000356955.2_5'Flank|ADAM15_ENST00000360674.4_5'Flank|ADAM15_ENST00000447332.3_5'Flank|ADAM15_ENST00000449910.2_5'Flank|ADAM15_ENST00000531455.1_5'Flank|ADAM15_ENST00000271836.6_5'Flank|ADAM15_ENST00000368410.2_5'Flank|ADAM15_ENST00000355956.2_5'Flank|DCST1_ENST00000423025.2_Missense_Mutation_p.R653Q|ADAM15_ENST00000359280.4_5'Flank|ADAM15_ENST00000368412.3_5'Flank	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	678						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GACGACATGCGGCAGCGGTGC	0.677											OREG0013846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													28.0	28.0	28.0					1																	155023256		2202	4300	6502	SO:0001583	missense	149095			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.2033G>A	1.37:g.155023256G>A	ENSP00000295542:p.Arg678Gln	1767	B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966146	0.53507	.	.	ENSG00000163357	ENST00000295542;ENST00000423025	T;T	0.20881	2.05;2.04	5.22	0.533	0.17121	Zinc finger, RING-type (2);	0.705821	0.12846	N	0.434410	T	0.02494	0.0076	N	0.17474	0.49	0.26847	N	0.968244	B;B	0.18166	0.026;0.026	B;B	0.08055	0.003;0.002	T	0.46541	-0.9184	10	0.12103	T	0.63	-13.0835	4.0722	0.09887	0.3846:0.0:0.4526:0.1628	.	653;678	E9PHV3;Q5T197	.;DCST1_HUMAN	Q	678;653	ENSP00000295542:R678Q;ENSP00000387369:R653Q	ENSP00000295542:R678Q	R	+	2	0	DCST1	153289880	0.028000	0.19301	0.988000	0.46212	0.976000	0.68499	-0.053000	0.11846	0.191000	0.20236	-0.182000	0.12963	CGG		0.677	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1		NM_152494	
DDX42	11325	broad.mit.edu	37	17	61886961	61886961	+	Silent	SNP	T	T	C			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr17:61886961T>C	ENST00000578681.1	+	12	1795	c.1194T>C	c.(1192-1194)ctT>ctC	p.L398L	DDX42_ENST00000583590.1_Silent_p.L398L|DDX42_ENST00000359353.5_Silent_p.L279L|DDX42_ENST00000457800.2_Silent_p.L398L|DDX42_ENST00000389924.2_Silent_p.L398L	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	398	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.L398L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CTACCAATCTTCAAAGAGTCT	0.378																																																	1	Substitution - coding silent(1)	kidney(1)											243.0	212.0	222.0					17																	61886961		2203	4300	6503	SO:0001819	synonymous_variant	11325			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.1194T>C	17.37:g.61886961T>C			A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Silent	SNP	ENST00000578681.1	37	CCDS32704.1																																																																																				0.378	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1		NM_007372	
DEFB116	245930	broad.mit.edu;ucsc.edu	37	20	29891177	29891177	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr20:29891177G>T	ENST00000400549.1	-	2	146	c.147C>A	c.(145-147)aaC>aaA	p.N49K		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	49					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.N49K(1)		kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CTCTGCAGGCGTTTCTGCACA	0.453																																																	1	Substitution - Missense(1)	kidney(1)											278.0	246.0	256.0					20																	29891177		1877	4099	5976	SO:0001583	missense	245930			DQ012020	CCDS42860.1	20q11.21	2008-07-17			ENSG00000215545	ENSG00000215545		"""Defensins, beta"""	18097	protein-coding gene	gene with protein product	"""defensin, beta 16"""					11854508, 16033865	Standard	NM_001037731		Approved	DEFB-16	uc010ztm.2	Q30KQ4	OTTHUMG00000159285	ENST00000400549.1:c.147C>A	20.37:g.29891177G>T	ENSP00000383396:p.Asn49Lys			Missense_Mutation	SNP	ENST00000400549.1	37	CCDS42860.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289963	0.40494	.	.	ENSG00000215545	ENST00000400549	T	0.08102	3.13	3.43	-1.21	0.09524	.	.	.	.	.	T	0.12518	0.0304	L	0.29908	0.895	0.09310	N	1	D	0.71674	0.998	D	0.66716	0.946	T	0.26608	-1.0098	9	0.34782	T	0.22	-8.8653	6.5773	0.22573	0.5642:0.0:0.4358:0.0	.	49	Q30KQ4	DB116_HUMAN	K	49	ENSP00000383396:N49K	ENSP00000383396:N49K	N	-	3	2	DEFB116	29354838	0.000000	0.05858	0.008000	0.14137	0.005000	0.04900	-0.574000	0.05868	-0.201000	0.10284	0.655000	0.94253	AAC		0.453	DEFB116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354403.1		NM_001037731	
DENND1C	79958	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	6467832	6467832	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr19:6467832C>T	ENST00000381480.2	-	23	2201	c.2089G>A	c.(2089-2091)Gaa>Aaa	p.E697K	DENND1C_ENST00000543576.1_Missense_Mutation_p.E653K	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	697					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.E723K(1)|p.E697K(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GTGGGGTTTTCCTGGGCTGTA	0.577																																																	2	Substitution - Missense(2)	kidney(2)											25.0	26.0	26.0					19																	6467832		1885	4110	5995	SO:0001583	missense	79958			AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.2089G>A	19.37:g.6467832C>T	ENSP00000370889:p.Glu697Lys		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.716623	0.30413	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.09630	3.13;2.96	4.63	-0.739	0.11120	.	4.646510	0.00575	N	0.000301	T	0.07188	0.0182	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.32428	-0.9907	10	0.06236	T	0.91	-0.2041	7.692	0.28573	0.0:0.3947:0.5055:0.0998	.	697	Q8IV53	DEN1C_HUMAN	K	697;653	ENSP00000370889:E697K;ENSP00000437805:E653K	ENSP00000370889:E697K	E	-	1	0	DENND1C	6418832	0.000000	0.05858	0.001000	0.08648	0.182000	0.23217	-0.383000	0.07398	0.107000	0.17824	0.298000	0.19748	GAA		0.577	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2		NM_024898	
DNAH2	146754	hgsc.bcm.edu;ucsc.edu	37	17	7663182	7663183	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr17:7663182_7663183delTC	ENST00000572933.1	+	17	4171_4172	c.2711_2712delTC	c.(2710-2712)atcfs	p.I904fs	DNAH2_ENST00000389173.2_Frame_Shift_Del_p.I904fs			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	904	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTTTCCACCATCTCTGTCTTCT	0.535																																																	0										186,4078		92,2,2038						4.3	1.0			281	314,7940		156,2,3969	no	frameshift	DNAH2	NM_020877.2		248,4,6007	A1A1,A1R,RR		3.8042,4.3621,3.9942				500,12018				SO:0001589	frameshift_variant	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.2711_2712delTC	17.37:g.7663184_7663185delTC	ENSP00000458355:p.Ile904fs		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Frame_Shift_Del	DEL	ENST00000572933.1	37	CCDS32551.1																																																																																				0.535	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1		NM_020877	
DNAH5	1767	hgsc.bcm.edu	37	5	13866368	13866369	+	Frame_Shift_Ins	INS	-	-	A	rs201366196		TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr5:13866368_13866369insA	ENST00000265104.4	-	26	4180_4181	c.4076_4077insT	c.(4075-4077)ttgfs	p.L1359fs	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1359	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTGGGGCTTCAAGCCGCTAGC	0.332									Kartagener syndrome																																								0																																										SO:0001589	frameshift_variant	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4077dupT	5.37:g.13866370_13866370dupA	ENSP00000265104:p.Leu1359fs		Q92860|Q96L74|Q9H5S7|Q9HCG9	Frame_Shift_Ins	INS	ENST00000265104.4	37	CCDS3882.1																																																																																				0.332	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2		NM_001369	
DOCK11	139818	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	117752678	117752678	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chrX:117752678G>T	ENST00000276202.7	+	31	3521	c.3458G>T	c.(3457-3459)aGa>aTa	p.R1153I	DOCK11_ENST00000276204.6_Missense_Mutation_p.R1153I	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1153					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1153I(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TTTGACACAAGATACCAGCAC	0.358																																																	1	Substitution - Missense(1)	kidney(1)											62.0	55.0	57.0					X																	117752678		2203	4299	6502	SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.3458G>T	X.37:g.117752678G>T	ENSP00000276202:p.Arg1153Ile		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671054	0.88348	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	D;D	0.96365	-3.99;-3.99	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.98695	0.9562	H	0.94306	3.52	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71414	0.969;0.973	D	0.99414	1.0931	10	0.66056	D	0.02	9.0E-4	18.9958	0.92812	0.0:0.0:1.0:0.0	.	1153;1153	A6NIW2;Q5JSL3	.;DOC11_HUMAN	I	1153	ENSP00000276204:R1153I;ENSP00000276202:R1153I	ENSP00000276202:R1153I	R	+	2	0	DOCK11	117636706	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.606000	0.90888	2.521000	0.84997	0.544000	0.68410	AGA		0.358	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1		NM_144658	
DSC2	1824	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	28648279	28648279	+	Intron	SNP	T	T	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr18:28648279T>G	ENST00000280904.6	-	16	2952				DSC2_ENST00000251081.6_Missense_Mutation_p.N847T	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2						bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N847T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CATTGTTTAATTTTTAATCAG	0.279																																																	1	Substitution - Missense(1)	kidney(1)											68.0	66.0	67.0					18																	28648279		2203	4296	6499	SO:0001627	intron_variant	1824			X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.2509-101A>C	18.37:g.28648279T>G				Missense_Mutation	SNP	ENST00000280904.6	37	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	T	17.90	3.502448	0.64298	.	.	ENSG00000134755	ENST00000251081	T	0.60040	0.22	5.87	5.87	0.94306	.	.	.	.	.	T	0.74650	0.3744	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.78001	-0.2375	8	0.87932	D	0	.	12.2201	0.54429	0.1275:0.0:0.0:0.8725	.	847	Q02487-2	.	T	847	ENSP00000251081:N847T	ENSP00000251081:N847T	N	-	2	0	DSC2	26902277	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.252000	0.65445	2.371000	0.80710	0.533000	0.62120	AAT		0.279	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1		NM_004949	
DUOX1	53905	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	45453967	45453967	+	Silent	SNP	G	G	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr15:45453967G>A	ENST00000321429.4	+	31	4295	c.3888G>A	c.(3886-3888)caG>caA	p.Q1296Q	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Silent_p.Q1296Q|DUOX1_ENST00000561166.1_Silent_p.Q942Q	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1296	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.Q1296Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AGCGGCCCCAGGGCTTTGAGT	0.642																																																	1	Substitution - coding silent(1)	kidney(1)											61.0	57.0	58.0					15																	45453967		2198	4298	6496	SO:0001819	synonymous_variant	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3888G>A	15.37:g.45453967G>A			A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	CCDS32221.1																																																																																				0.642	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1		NM_017434	
DUOX1	53905	broad.mit.edu;ucsc.edu	37	15	45453969	45453969	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr15:45453969G>C	ENST00000321429.4	+	31	4297	c.3890G>C	c.(3889-3891)gGc>gCc	p.G1297A	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.G1297A|DUOX1_ENST00000561166.1_Missense_Mutation_p.G943A	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1297	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.G1297A(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CGGCCCCAGGGCTTTGAGTAC	0.637																																																	1	Substitution - Missense(1)	kidney(1)											64.0	59.0	61.0					15																	45453969		2198	4298	6496	SO:0001583	missense	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3890G>C	15.37:g.45453969G>C	ENSP00000317997:p.Gly1297Ala		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040750	0.55003	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.91996	-2.95;-2.95	4.11	4.11	0.48088	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.106540	0.64402	D	0.000002	D	0.89368	0.6695	L	0.45051	1.395	0.58432	D	0.999992	P	0.39782	0.688	P	0.45712	0.491	D	0.87877	0.2675	10	0.46703	T	0.11	-28.1821	7.9239	0.29863	0.1126:0.0:0.8874:0.0	.	1297	Q9NRD9	DUOX1_HUMAN	A	1297	ENSP00000317997:G1297A;ENSP00000373689:G1297A	ENSP00000317997:G1297A	G	+	2	0	DUOX1	43241261	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.462000	0.60121	2.273000	0.75805	0.555000	0.69702	GGC		0.637	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1		NM_017434	
DYNC2H1	79659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	103058111	103058111	+	Missense_Mutation	SNP	A	A	T	rs568202877		TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr11:103058111A>T	ENST00000375735.2	+	43	7080	c.6936A>T	c.(6934-6936)caA>caT	p.Q2312H	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.Q2312H	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2312	AAA 3. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GGTCCACTCAAATTGCTACAG	0.413																																																	0													112.0	110.0	111.0					11																	103058111		2029	4198	6227	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.6936A>T	11.37:g.103058111A>T	ENSP00000364887:p.Gln2312His		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	10.38	1.334260	0.24253	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.39787	1.06;1.06	5.12	-5.88	0.02290	ATPase, AAA+ type, core (1);	.	.	.	.	T	0.35335	0.0928	M	0.74647	2.275	0.29904	N	0.824124	B;B	0.10296	0.003;0.003	B;B	0.20577	0.03;0.017	T	0.41998	-0.9477	9	0.15499	T	0.54	.	8.3163	0.32102	0.5342:0.1906:0.2751:0.0	.	2312;2312	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	H	2312	ENSP00000364887:Q2312H;ENSP00000381167:Q2312H	ENSP00000364887:Q2312H	Q	+	3	2	DYNC2H1	102563321	0.180000	0.23148	0.004000	0.12327	0.523000	0.34469	-0.453000	0.06778	-1.016000	0.03371	-0.250000	0.11733	CAA		0.413	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1		XM_370652	
E2F1	1869	hgsc.bcm.edu	37	20	32267679	32267681	+	In_Frame_Del	DEL	CGA	CGA	-	rs373698861		TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	CGA	CGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr20:32267679_32267681delCGA	ENST00000343380.5	-	3	591_593	c.452_454delTCG	c.(451-456)gtcgac>gac	p.V151del		NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	151	Interaction with BIRC2/c-IAP1.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|DNA damage checkpoint (GO:0000077)|forebrain development (GO:0030900)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|mRNA stabilization (GO:0048255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						CAGTTCAGGTCGACGACACCGTC	0.581																																																	0																																										SO:0001651	inframe_deletion	1869				CCDS13224.1	20q11	2008-05-14			ENSG00000101412	ENSG00000101412			3113	protein-coding gene	gene with protein product		189971		RBBP3		8964493	Standard	NM_005225		Approved	RBP3	uc002wzu.4	Q01094	OTTHUMG00000032265	ENST00000343380.5:c.452_454delTCG	20.37:g.32267682_32267684delCGA	ENSP00000345571:p.Val151del		Q13143|Q92768	In_Frame_Del	DEL	ENST00000343380.5	37	CCDS13224.1																																																																																				0.581	E2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078731.2			
ECH1	1891	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39321980	39321980	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr19:39321980T>C	ENST00000221418.4	-	2	461	c.229A>G	c.(229-231)Aag>Gag	p.K77E	AC104534.3_ENST00000594769.1_Silent_p.T246T|ECH1_ENST00000597805.1_Intron	NM_001398.2	NP_001389.2	Q13011	ECH1_HUMAN	enoyl CoA hydratase 1, peroxisomal	77					fatty acid beta-oxidation (GO:0006635)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	isomerase activity (GO:0016853)|receptor binding (GO:0005102)	p.K77E(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GCATTCCTCTTGTTGGGCCGG	0.607																																																	1	Substitution - Missense(1)	kidney(1)											107.0	105.0	106.0					19																	39321980		2203	4300	6503	SO:0001583	missense	1891			U16660	CCDS33014.1	19q13.1	2010-04-30	2010-04-30			ENSG00000104823			3149	protein-coding gene	gene with protein product		600696	"""enoyl Coenzyme A hydratase 1, peroxisomal"""			7558027	Standard	XM_005258610		Approved	HPXEL		Q13011		ENST00000221418.4:c.229A>G	19.37:g.39321980T>C	ENSP00000221418:p.Lys77Glu		A8K745|Q8WVX0|Q96EZ9	Missense_Mutation	SNP	ENST00000221418.4	37	CCDS33014.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.638935	0.87760	.	.	ENSG00000104823	ENST00000221418	T	0.68624	-0.34	5.73	5.73	0.89815	Crotonase, core (1);	0.000000	0.85682	D	0.000000	D	0.83390	0.5244	M	0.93016	3.37	0.80722	D	1	D;P	0.65815	0.995;0.895	P;P	0.57846	0.828;0.654	D	0.87733	0.2580	10	0.87932	D	0	.	15.0019	0.71479	0.0:0.0:0.0:1.0	.	77;77	B4DVS4;Q13011	.;ECH1_HUMAN	E	77	ENSP00000221418:K77E	ENSP00000221418:K77E	K	-	1	0	ECH1	44013820	1.000000	0.71417	0.986000	0.45419	0.378000	0.30076	5.945000	0.70226	2.190000	0.69967	0.533000	0.62120	AAG		0.607	ECH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462650.1			
AGO3	192669	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	36411321	36411321	+	Missense_Mutation	SNP	G	G	A	rs372140569		TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr1:36411321G>A	ENST00000373191.4	+	2	397	c.48G>A	c.(46-48)atG>atA	p.M16I	AGO3_ENST00000246314.6_De_novo_Start_InFrame|AGO3_ENST00000397828.2_Missense_Mutation_p.M16I|AGO3_ENST00000324350.5_Missense_Mutation_p.M16I	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	16					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)	p.M16I(1)									CCCTACTCATGGTGCCCAGAA	0.488																																																	1	Substitution - Missense(1)	kidney(1)						G	ILE/MET,	1,4405	2.1+/-5.4	0,1,2202	86.0	100.0	95.0		48,	4.3	1.0	1		95	0,8600		0,0,4300	no	missense,utr-5	EIF2C3	NM_024852.3,NM_177422.2	10,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,	16/861,	36411321	1,13005	2203	4300	6503	SO:0001583	missense	192669			AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.48G>A	1.37:g.36411321G>A	ENSP00000362287:p.Met16Ile		B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	CCDS399.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062948	0.36373	2.27E-4	0.0	ENSG00000126070	ENST00000324350;ENST00000373191;ENST00000397828	T	0.08984	3.03	6.17	4.3	0.51218	.	0.167637	0.64402	N	0.000004	T	0.06371	0.0164	N	0.19112	0.55	0.36893	D	0.889993	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.25222	-1.0138	10	0.37606	T	0.19	-10.3744	12.1151	0.53860	0.0644:0.1216:0.814:0.0	.	16;16	Q9H9G7;Q5TA56	AGO3_HUMAN;.	I	16	ENSP00000362287:M16I	ENSP00000317425:M16I	M	+	3	0	EIF2C3	36183908	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.294000	0.43567	0.926000	0.37118	0.655000	0.94253	ATG		0.488	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4		NM_024852	
EML5	161436	hgsc.bcm.edu;ucsc.edu|hgsc.bcm.edu	37	14	89168918	89168919	+	Missense_Mutation	DNP	AC	AC	TG			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr14:89168918_89168919AC>TG	ENST00000380664.5	-	14	2108_2109	c.2109_2110GT>CA	c.(2107-2112)gtGTac>gtCAac	p.Y704N	EML5_ENST00000352093.5_Missense_Mutation_p.Y704N|EML5_ENST00000554922.1_Missense_Mutation_p.Y704N			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	704						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCCACATGGTACACAATTTCAC	0.342																																																	0																																										SO:0001583	missense	161436			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2109_2110delinsTG	14.37:g.89168918_89168919delinsTG	ENSP00000370039:p.Tyr704Asn		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation|Silent	SNP	ENST00000380664.5	37	CCDS45148.1																																																																																				0.342	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			
EPHA6	285220	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	96533798	96533798	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr3:96533798T>A	ENST00000389672.5	+	1	369	c.331T>A	c.(331-333)Ttg>Atg	p.L111M	EPHA6_ENST00000470610.2_Missense_Mutation_p.L111M|EPHA6_ENST00000542517.1_Missense_Mutation_p.L17M	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	17	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.L17M(2)|p.L111M(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGGTTTCTTCTTGCCTCTGCT	0.587																																																	3	Substitution - Missense(3)	kidney(3)											12.0	14.0	13.0					3																	96533798		1857	4004	5861	SO:0001583	missense	285220			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.331T>A	3.37:g.96533798T>A	ENSP00000374323:p.Leu111Met		D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	CCDS46876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.41|15.41	2.825507|2.825507	0.50739|0.50739	.|.	.|.	ENSG00000080224|ENSG00000080224	ENST00000506569|ENST00000470610;ENST00000389672;ENST00000542517	.|T;T;T	.|0.78481	.|4.68;-1.18;4.2	5.15|5.15	2.77|2.77	0.32553|0.32553	.|.	.|.	.|.	.|.	.|.	T|T	0.54303|0.54303	0.1850|0.1850	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B;P	.|0.37864	.|0.172;0.61	.|B;B	.|0.34991	.|0.093;0.193	T|T	0.48399|0.48399	-0.9039|-0.9039	5|9	.|0.45353	.|T	.|0.12	.|.	6.7845|6.7845	0.23665|0.23665	0.0:0.1895:0.0:0.8105|0.0:0.1895:0.0:0.8105	.|.	.|111;111	.|B3KS12;E7EU71	.|.;.	H|M	55|111;111;17	.|ENSP00000420598:L111M;ENSP00000374323:L111M;ENSP00000439758:L17M	.|ENSP00000374323:L111M	L|L	+|+	2|1	0|2	EPHA6|EPHA6	98016488|98016488	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.585000|0.585000	0.36419|0.36419	1.725000|1.725000	0.38074|0.38074	0.296000|0.296000	0.22592|0.22592	-0.376000|-0.376000	0.06991|0.06991	CTT|TTG		0.587	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3		NM_001080448	
FAM170A	340069	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	118969970	118969970	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr5:118969970T>C	ENST00000515256.1	+	3	699	c.527T>C	c.(526-528)gTg>gCg	p.V176A				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	176					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V176A(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CCCTCTGATGTGTCCACCAGA	0.537																																																	1	Substitution - Missense(1)	kidney(1)											87.0	92.0	91.0					5																	118969970		2019	4191	6210	SO:0001583	missense	340069			AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.527T>C	5.37:g.118969970T>C	ENSP00000422684:p.Val176Ala		Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	ENST00000515256.1	37		.	.	.	.	.	.	.	.	.	.	T	5.271	0.235418	0.10023	.	.	ENSG00000164334	ENST00000296787;ENST00000515256	T	0.33438	1.41	4.89	2.51	0.30379	.	0.468250	0.18500	N	0.139399	T	0.22936	0.0554	L	0.48362	1.52	0.22066	N	0.999388	B;B	0.17268	0.004;0.021	B;B	0.16289	0.01;0.015	T	0.18650	-1.0330	9	.	.	.	-11.6021	6.4135	0.21704	0.0:0.1932:0.0:0.8068	.	129;176	D6RIE9;A1A519	.;F170A_HUMAN	A	129;176	ENSP00000422684:V176A	.	V	+	2	0	FAM170A	118997869	0.811000	0.29063	0.603000	0.28903	0.125000	0.20455	1.473000	0.35387	0.468000	0.27243	-0.250000	0.11733	GTG		0.537	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1		NM_182761	
FAM182A	284800	broad.mit.edu	37	20	26063686	26063686	+	RNA	SNP	C	C	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr20:26063686C>G	ENST00000376398.2	+	0	1203					NR_026713.1		Q5T1J6	F182A_HUMAN	family with sequence similarity 182, member A											breast(1)|endometrium(2)|kidney(1)	4						GCCTGGACATCCACTGGGACA	0.498																																																	0																																												284800			AL391119		20p11	2013-03-18	2008-08-05	2008-08-05	ENSG00000125804	ENSG00000125804			16222	other	unknown			"""chromosome 20 open reading frame 91"""	C20orf91			Standard	NR_026713		Approved	bB329D4.1, C20orf91A	uc010gdq.3	Q5T1J6	OTTHUMG00000032144		20.37:g.26063686C>G			A2RRD0|Q8N947	RNA	SNP	ENST00000376398.2	37																																																																																					0.498	FAM182A-001	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000078473.2			
FLT4	2324	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	180036981	180036981	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr5:180036981G>A	ENST00000261937.6	-	28	3809	c.3731C>T	c.(3730-3732)gCt>gTt	p.A1244V	FLT4_ENST00000393347.3_Missense_Mutation_p.A1244V|FLT4_ENST00000502649.1_Missense_Mutation_p.A1244V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1244					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.A1244V(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACGGGTCTCAGCCCCTCTGGC	0.572																																					Colon(97;1075 1466 27033 27547 35871)												2	Substitution - Missense(2)	kidney(2)											111.0	112.0	112.0					5																	180036981		2203	4300	6503	SO:0001583	missense	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3731C>T	5.37:g.180036981G>A	ENSP00000261937:p.Ala1244Val		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	6.198	0.404628	0.11754	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.76448	-1.01;-1.02;-1.01	4.79	1.45	0.22620	.	.	.	.	.	T	0.53899	0.1825	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.39961	-0.9588	9	0.33940	T	0.23	.	4.5221	0.11964	0.1991:0.0:0.4293:0.3715	.	1244;1244	E9PD35;P35916	.;VGFR3_HUMAN	V	1244	ENSP00000261937:A1244V;ENSP00000377016:A1244V;ENSP00000426057:A1244V	ENSP00000261937:A1244V	A	-	2	0	FLT4	179969587	0.976000	0.34144	0.007000	0.13788	0.140000	0.21249	2.397000	0.44477	0.563000	0.29222	-0.258000	0.10820	GCT		0.572	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			
GATAD2A	54815	broad.mit.edu	37	19	19609406	19609406	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr19:19609406T>C	ENST00000360315.3	+	8	1391	c.1079T>C	c.(1078-1080)cTa>cCa	p.L360P	GATAD2A_ENST00000429563.2_Missense_Mutation_p.L187P|GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000358713.3_Missense_Mutation_p.L360P|GATAD2A_ENST00000404158.1_Missense_Mutation_p.L360P|GATAD2A_ENST00000252577.5_Missense_Mutation_p.L360P	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	360	CR2; histone tail-binding.				anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L360P(1)|p.L217P(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GAGAAGACGCTACTCGAGATC	0.647																																																	2	Substitution - Missense(2)	kidney(2)											38.0	40.0	39.0					19																	19609406		2203	4300	6503	SO:0001583	missense	54815			AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1079T>C	19.37:g.19609406T>C	ENSP00000353463:p.Leu360Pro		B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	ENST00000360315.3	37	CCDS12402.2	.	.	.	.	.	.	.	.	.	.	T	22.7	4.330335	0.81690	.	.	ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000404158;ENST00000358713;ENST00000429563	T;T;T;T	0.70869	-0.06;-0.18;-0.06;-0.52	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.84266	0.5434	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.85499	0.1190	9	.	.	.	-22.7905	14.7528	0.69540	0.0:0.0:0.0:1.0	.	187;379;360	B4DKZ7;B5MC40;Q86YP4	.;.;P66A_HUMAN	P	360;360;379;360;187	ENSP00000353463:L360P;ENSP00000252577:L360P;ENSP00000351552:L360P;ENSP00000388416:L187P	.	L	+	2	0	GATAD2A	19470406	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	8.018000	0.88722	2.173000	0.68751	0.529000	0.55759	CTA		0.647	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4		NM_017660	
GPR179	440435	hgsc.bcm.edu;ucsc.edu	37	17	36483373	36483385	+	Frame_Shift_Del	DEL	TTCTTTCAGTCAC	TTCTTTCAGTCAC	-	rs181425775		TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	TTCTTTCAGTCAC	TTCTTTCAGTCAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr17:36483373_36483385delTTCTTTCAGTCAC	ENST00000342292.4	-	11	6087_6099	c.6067_6079delGTGACTGAAAGAA	c.(6067-6081)gtgactgaaagaatcfs	p.VTERI2023fs	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2023					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTGACAGGGATTCTTTCAGTCACTTCCCAGGGA	0.54																																																	0																																										SO:0001589	frameshift_variant	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.6067_6079delGTGACTGAAAGAA	17.37:g.36483373_36483385delTTCTTTCAGTCAC	ENSP00000345060:p.Val2023fs			Frame_Shift_Del	DEL	ENST00000342292.4	37	CCDS42308.1																																																																																				0.540	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			
GPATCH8	23131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42477558	42477558	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr17:42477558T>A	ENST00000591680.1	-	8	1917	c.1887A>T	c.(1885-1887)agA>agT	p.R629S	GPATCH8_ENST00000434000.1_Missense_Mutation_p.R551S	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	629							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R629S(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GTGCGTCCATTCTGCCTCCTG	0.552											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											54.0	53.0	53.0					17																	42477558		2203	4300	6503	SO:0001583	missense	23131			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.1887A>T	17.37:g.42477558T>A	ENSP00000467556:p.Arg629Ser	909	B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	T	9.342	1.063282	0.20067	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.11063	2.81	4.67	3.59	0.41128	.	0.393276	0.25708	N	0.028833	T	0.06325	0.0163	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41431	-0.9509	10	0.13853	T	0.58	-8.4633	7.6433	0.28307	0.0:0.0758:0.1392:0.785	.	629	Q9UKJ3	GPTC8_HUMAN	S	629;551	ENSP00000395016:R551S	ENSP00000335486:R629S	R	-	3	2	GPATCH8	39833084	0.002000	0.14202	0.516000	0.27786	0.985000	0.73830	1.168000	0.31859	0.816000	0.34421	0.402000	0.26972	AGA		0.552	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1		NM_001002909	
HLA-DRB1	3123	hgsc.bcm.edu;ucsc.edu	37	6	32551957	32551957	+	Missense_Mutation	SNP	G	G	C	rs9269942		TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr6:32551957G>C	ENST00000360004.5	-	2	404	c.299C>G	c.(298-300)gCg>gGg	p.A100G		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	100	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						CGCGGCCCGCGCCTGCTCCAG	0.677										Multiple Myeloma(14;0.17)																																							0													26.0	28.0	27.0					6																	32551957		2024	4128	6152	SO:0001583	missense	3123			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.299C>G	6.37:g.32551957G>C	ENSP00000353099:p.Ala100Gly		P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1	.	.	.	.	.	.	.	.	.	.	.	7.541	0.660706	0.14645	.	.	ENSG00000196126	ENST00000360004	T	0.00340	8.04	3.52	-7.04	0.01578	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (3);MHC classes I/II-like antigen recognition protein (1);	7.036940	0.00166	N	0.000001	T	0.00144	0.0004	M	0.92691	3.335	0.09310	N	1	B	0.14012	0.009	B	0.24394	0.053	T	0.43718	-0.9374	10	0.66056	D	0.02	.	3.8267	0.08858	0.0864:0.1469:0.1983:0.5684	rs9269942;rs17886391	100	P01911	2B1F_HUMAN	G	100	ENSP00000353099:A100G	ENSP00000353099:A100G	A	-	2	0	HLA-DRB1	32659935	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.778000	0.00030	-2.910000	0.00308	-2.580000	0.00168	GCG		0.677	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3		NM_002124	
HPS4	89781	broad.mit.edu;hgsc.bcm.edu	37	22	26859937	26859937	+	Silent	SNP	C	C	G	rs540157835		TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr22:26859937C>G	ENST00000398145.2	-	11	2275	c.1659G>C	c.(1657-1659)ctG>ctC	p.L553L	HPS4_ENST00000402105.3_Silent_p.L548L|HPS4_ENST00000336873.5_Silent_p.L553L|HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000398141.1_Silent_p.L566L	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	553					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)	p.L553L(1)|p.L566L(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						CCAGCAGGGACAGCACCAGCC	0.612									Hermansky-Pudlak syndrome																																								2	Substitution - coding silent(2)	kidney(2)											58.0	52.0	54.0					22																	26859937		2203	4300	6503	SO:0001819	synonymous_variant	89781	Familial Cancer Database	HPS, HPS1-8		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1659G>C	22.37:g.26859937C>G			B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Silent	SNP	ENST00000398145.2	37	CCDS13835.1																																																																																				0.612	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1		NM_022081	
HPSE	10855	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	84231973	84231973	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr4:84231973T>A	ENST00000405413.2	-	6	880	c.744A>T	c.(742-744)caA>caT	p.Q248H	HPSE_ENST00000311412.5_Missense_Mutation_p.Q248H|HPSE_ENST00000512196.1_Missense_Mutation_p.Q248H|HPSE_ENST00000513463.1_Missense_Mutation_p.Q190H	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	248					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)	p.Q248H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	GTTTATGCAATTGAATAAAAT	0.373																																																	1	Substitution - Missense(1)	kidney(1)											126.0	125.0	125.0					4																	84231973		2203	4300	6503	SO:0001583	missense	10855			AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.744A>T	4.37:g.84231973T>A	ENSP00000384262:p.Gln248His		A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	37	CCDS3602.1	.	.	.	.	.	.	.	.	.	.	T	6.315	0.426271	0.11987	.	.	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000512196;ENST00000513463	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.2	0.132	0.14762	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	1.090450	0.06907	N	0.806996	T	0.12518	0.0304	N	0.02202	-0.64	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.002;0.003	T	0.26503	-1.0101	10	0.40728	T	0.16	-2.2055	6.1068	0.20077	0.0:0.3968:0.2096:0.3936	.	248;190;248	E9PCA9;E9PGR1;Q9Y251	.;.;HPSE_HUMAN	H	248;248;248;190	ENSP00000308107:Q248H;ENSP00000384262:Q248H;ENSP00000423265:Q248H;ENSP00000421365:Q190H	ENSP00000308107:Q248H	Q	-	3	2	HPSE	84450997	0.005000	0.15991	0.075000	0.20258	0.878000	0.50629	-0.489000	0.06490	0.075000	0.16796	-0.361000	0.07541	CAA		0.373	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2		NM_006665	
IGFN1	91156	hgsc.bcm.edu;ucsc.edu	37	1	201176095	201176095	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr1:201176095C>G	ENST00000335211.4	+	12	2204	c.2074C>G	c.(2074-2076)Cct>Gct	p.P692A	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGGCATGGCCCCTGAATCCTG	0.597																																																	0													51.0	53.0	52.0					1																	201176095		692	1591	2283	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.2074C>G	1.37:g.201176095C>G	ENSP00000334714:p.Pro692Ala		F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579375	0.28180	.	.	ENSG00000163395	ENST00000335211	T	0.76839	-1.05	4.14	2.14	0.27477	.	.	.	.	.	T	0.53834	0.1821	N	0.08118	0	0.09310	N	0.999995	.	.	.	.	.	.	T	0.42207	-0.9465	6	.	.	.	.	4.8905	0.13724	0.2086:0.6782:0.0:0.1132	.	.	.	.	A	692	ENSP00000334714:P692A	.	P	+	1	0	IGFN1	199442718	0.075000	0.21258	0.006000	0.13384	0.056000	0.15407	0.312000	0.19397	0.957000	0.37930	0.655000	0.94253	CCT		0.597	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_178275	
TRAPPC8	22878	broad.mit.edu;ucsc.edu	37	18	29435680	29435680	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr18:29435680A>C	ENST00000283351.4	-	21	3614	c.3279T>G	c.(3277-3279)aaT>aaG	p.N1093K	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.N1039K	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1093					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.N1093K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGCCTTCTTCATTTTCAAGAG	0.348																																																	1	Substitution - Missense(1)	kidney(1)											98.0	97.0	97.0					18																	29435680		2203	4300	6503	SO:0001583	missense	0			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.3279T>G	18.37:g.29435680A>C	ENSP00000283351:p.Asn1093Lys		A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	A	11.25	1.582338	0.28180	.	.	ENSG00000153339	ENST00000283351	T	0.16324	2.35	5.51	1.35	0.21983	.	0.447690	0.27084	N	0.021020	T	0.06690	0.0171	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.36553	-0.9743	10	0.05620	T	0.96	.	5.6848	0.17797	0.717:0.0:0.1367:0.1463	.	1093	Q9Y2L5	TPPC8_HUMAN	K	1093	ENSP00000283351:N1093K	ENSP00000283351:N1093K	N	-	3	2	TRAPPC8	27689678	1.000000	0.71417	0.973000	0.42090	0.964000	0.63967	1.102000	0.31050	0.028000	0.15324	0.377000	0.23210	AAT		0.348	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1		NM_014939	
KCNG2	26251	hgsc.bcm.edu	37	18	77659531	77659531	+	Silent	SNP	C	C	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr18:77659531C>T	ENST00000316249.3	+	2	1116	c.1116C>T	c.(1114-1116)taC>taT	p.Y372Y	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	372					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCGTGGGCTACGGCGACATGG	0.697																																																	0													42.0	40.0	41.0					18																	77659531		2203	4298	6501	SO:0001819	synonymous_variant	26251			AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.1116C>T	18.37:g.77659531C>T				Silent	SNP	ENST00000316249.3	37	CCDS12019.1																																																																																				0.697	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1		NM_012283	
KIDINS220	57498	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	8890360	8890360	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr2:8890360G>T	ENST00000256707.3	-	24	3477	c.3296C>A	c.(3295-3297)cCa>cAa	p.P1099Q	KIDINS220_ENST00000427284.1_Missense_Mutation_p.P1099Q|KIDINS220_ENST00000418530.1_Missense_Mutation_p.P1057Q|KIDINS220_ENST00000473731.1_Missense_Mutation_p.P1099Q	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1099					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.P1099Q(1)|p.P1099L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCACACGGATGGGGGCTGGCT	0.622																																																	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(1)|kidney(1)											73.0	76.0	75.0					2																	8890360		2005	4171	6176	SO:0001583	missense	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.3296C>A	2.37:g.8890360G>T	ENSP00000256707:p.Pro1099Gln		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140742	0.37825	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000459813	T;T;T;T;T;T	0.66995	0.81;-0.21;-0.17;-0.13;-0.17;-0.24	5.79	4.88	0.63580	.	0.442134	0.26719	N	0.022852	T	0.51975	0.1706	N	0.08118	0	0.80722	D	1	B;B;B;B;B	0.22480	0.055;0.003;0.023;0.07;0.023	B;B;B;B;B	0.30716	0.017;0.017;0.102;0.119;0.056	T	0.53878	-0.8376	10	0.56958	D	0.05	.	16.9108	0.86139	0.0:0.1275:0.8725:0.0	.	1100;1100;783;1057;1099	B4DK94;E9PH70;B4DGY1;Q9ULH0-2;Q9ULH0	.;.;.;.;KDIS_HUMAN	Q	846;783;1099;1099;1057;1099;1100;108	ENSP00000420364:P846Q;ENSP00000256707:P1099Q;ENSP00000411849:P1099Q;ENSP00000414923:P1057Q;ENSP00000418974:P1099Q;ENSP00000419964:P1100Q	ENSP00000256707:P1099Q	P	-	2	0	KIDINS220	8807811	1.000000	0.71417	0.021000	0.16686	0.120000	0.20174	7.624000	0.83124	2.733000	0.93635	0.655000	0.94253	CCA		0.622	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2		NM_020738	
KPNA2	3838	broad.mit.edu;hgsc.bcm.edu	37	17	66042696	66042696	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr17:66042696G>T	ENST00000537025.2	+	11	2194	c.1574G>T	c.(1573-1575)gGg>gTg	p.G525V	KPNA2_ENST00000582898.1_3'UTR|KPNA2_ENST00000330459.3_Missense_Mutation_p.G525V			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	525					cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.G525V(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGGGCTCCTGGGACCTTTAAC	0.353																																																	1	Substitution - Missense(1)	kidney(1)											73.0	75.0	74.0					17																	66042696		2203	4296	6499	SO:0001583	missense	3838			U09559	CCDS32713.1	17q24.2	2013-02-14						"""Importins"", ""Armadillo repeat containing"""	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.1574G>T	17.37:g.66042696G>T	ENSP00000438483:p.Gly525Val		B9EJD6|Q53YE3|Q9BRU5	Missense_Mutation	SNP	ENST00000537025.2	37	CCDS32713.1	.	.	.	.	.	.	.	.	.	.	G	9.161	1.018779	0.19355	.	.	ENSG00000182481	ENST00000330459;ENST00000537025	T;T	0.28454	1.61;1.61	5.33	5.33	0.75918	.	0.300971	0.25019	U	0.033771	T	0.37625	0.1010	M	0.84511	2.7	0.52501	D	0.999958	B	0.14438	0.01	B	0.14023	0.01	T	0.41215	-0.9521	10	0.66056	D	0.02	.	8.6651	0.34116	0.0863:0.1546:0.7591:0.0	.	525	P52292	IMA2_HUMAN	V	525	ENSP00000332455:G525V;ENSP00000438483:G525V	ENSP00000332455:G525V	G	+	2	0	KPNA2	63473158	1.000000	0.71417	0.990000	0.47175	0.339000	0.28857	4.713000	0.61895	2.497000	0.84241	0.461000	0.40582	GGG		0.353	KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448111.1		NM_002266	
KRTAP5-5	439915	broad.mit.edu;hgsc.bcm.edu	37	11	1651231	1651231	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr11:1651231G>T	ENST00000399676.2	+	1	199	c.161G>T	c.(160-162)gGc>gTc	p.G54V		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	54						keratin filament (GO:0045095)		p.G54V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ggctgtgcgggctgtggggga	0.682																																																	1	Substitution - Missense(1)	kidney(1)											36.0	48.0	44.0					11																	1651231		2134	4203	6337	SO:0001583	missense	439915			AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.161G>T	11.37:g.1651231G>T	ENSP00000382584:p.Gly54Val		A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	g	5.097	0.203486	0.09704	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01099	5.34	1.52	1.52	0.23074	.	.	.	.	.	T	0.02304	0.0071	L	0.29908	0.895	0.41455	D	0.988003	D	0.76494	0.999	D	0.71184	0.972	T	0.68625	-0.5359	9	0.29301	T	0.29	.	6.9639	0.24613	0.0:0.0:1.0:0.0	.	54	Q701N2	KRA55_HUMAN	V	54;52	ENSP00000382584:G54V	ENSP00000382584:G54V	G	+	2	0	KRTAP5-5	1607807	0.881000	0.30235	0.955000	0.39395	0.683000	0.39861	1.386000	0.34419	0.751000	0.32900	0.456000	0.33151	GGC		0.682	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			
LACRT	90070	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	55026135	55026135	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr12:55026135G>A	ENST00000257867.4	-	3	196	c.143C>T	c.(142-144)gCa>gTa	p.A48V	LACRT_ENST00000547511.1_Missense_Mutation_p.A48V	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	48					calcineurin-NFAT signaling cascade (GO:0033173)|calcium-mediated signaling (GO:0019722)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of secretion (GO:0051047)|protein localization to Golgi apparatus (GO:0034067)|tear secretion (GO:0070075)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|growth factor activity (GO:0008083)|laminin-1 binding (GO:0043237)|protein N-terminus binding (GO:0047485)	p.A48V(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						AGCTGGTTCTGCTGGACCTGA	0.502																																																	1	Substitution - Missense(1)	kidney(1)											186.0	173.0	177.0					12																	55026135		2203	4300	6503	SO:0001583	missense	90070			AF238867	CCDS8883.1	12q13.2	2014-06-13			ENSG00000135413				16430	protein-coding gene	gene with protein product		607360				11419941	Standard	NM_033277		Approved	LACRITIN	uc001sgi.1	Q9GZZ8	OTTHUMG00000169936	ENST00000257867.4:c.143C>T	12.37:g.55026135G>A	ENSP00000257867:p.Ala48Val			Missense_Mutation	SNP	ENST00000257867.4	37	CCDS8883.1	.	.	.	.	.	.	.	.	.	.	G	9.194	1.026738	0.19512	.	.	ENSG00000135413	ENST00000546721;ENST00000547511;ENST00000257867	.	.	.	2.01	-4.01	0.04045	.	2.083100	0.03036	N	0.152750	T	0.17789	0.0427	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.16289	0.015	T	0.16958	-1.0385	9	0.87932	D	0	.	2.5861	0.04830	0.3804:0.0:0.2616:0.358	.	48	Q9GZZ8	LACRT_HUMAN	V	18;48;48	.	ENSP00000257867:A48V	A	-	2	0	LACRT	53312402	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.692000	0.01918	-1.400000	0.02061	0.313000	0.20887	GCA		0.502	LACRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406615.1		NM_033277	
PTGER4P2	5736	broad.mit.edu	37	9	66499823	66499824	+	IGR	INS	-	-	TC	rs369360710		TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr9:66499823_66499824insTC								RP11-262H14.1 (30513 upstream) : RP11-262H14.7 (17381 downstream)																							CCACCTTCTATACAGTTATGCG	0.599																																																	0																																										SO:0001628	intergenic_variant	0																															9.37:g.66499823_66499824insTC				Frame_Shift_Ins	INS		37																																																																																				0	0.599									
LRPPRC	10128	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	44176772	44176772	+	Silent	SNP	T	T	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr2:44176772T>A	ENST00000260665.7	-	16	1761	c.1704A>T	c.(1702-1704)ggA>ggT	p.G568G		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	568					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.G568G(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GGCAATAACGTCCATCCTTGT	0.398																																																	1	Substitution - coding silent(1)	kidney(1)											78.0	69.0	72.0					2																	44176772		2203	4300	6503	SO:0001819	synonymous_variant	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1704A>T	2.37:g.44176772T>A			A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Silent	SNP	ENST00000260665.7	37	CCDS33189.1																																																																																				0.398	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1		NM_133259	
LTBP4	8425	hgsc.bcm.edu;ucsc.edu	37	19	41132926	41132926	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr19:41132926delC	ENST00000308370.7	+	32	4230	c.4230delC	c.(4228-4230)agcfs	p.S1410fs	LTBP4_ENST00000545697.1_Frame_Shift_Del_p.S778fs|LTBP4_ENST00000396819.3_Frame_Shift_Del_p.S1343fs|LTBP4_ENST00000204005.9_Frame_Shift_Del_p.S1373fs|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1411	Pro-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCGCATATAGCCCCCCGCGAC	0.627																																																	0													32.0	36.0	35.0					19																	41132926		1973	4135	6108	SO:0001589	frameshift_variant	8425			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4230delC	19.37:g.41132926delC	ENSP00000311905:p.Ser1410fs		O00508|O75412|O75413	Frame_Shift_Del	DEL	ENST00000308370.7	37																																																																																					0.627	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_003573	
LTBP4	8425	hgsc.bcm.edu	37	19	41132932	41132932	+	Silent	SNP	G	G	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr19:41132932G>T	ENST00000308370.7	+	32	4236	c.4236G>T	c.(4234-4236)ccG>ccT	p.P1412P	LTBP4_ENST00000545697.1_Silent_p.P780P|LTBP4_ENST00000396819.3_Silent_p.P1345P|LTBP4_ENST00000204005.9_Silent_p.P1375P|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1413	Pro-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATAGCCCCCCGCGACCAGGTG	0.627																																																	0													30.0	34.0	33.0					19																	41132932		1967	4134	6101	SO:0001819	synonymous_variant	8425			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4236G>T	19.37:g.41132932G>T			O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37																																																																																					0.627	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_003573	
MAP3K12	7786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53877445	53877445	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr12:53877445A>G	ENST00000267079.2	-	10	1547	c.1322T>C	c.(1321-1323)aTg>aCg	p.M441T	MAP3K12_ENST00000547151.1_5'Flank|MAP3K12_ENST00000547035.1_Missense_Mutation_p.M474T|MAP3K12_ENST00000547488.1_Missense_Mutation_p.M474T	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	441					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.M474T(1)|p.M441T(1)		NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						ATTAAGTTCCATATACAGGTT	0.547																																																	2	Substitution - Missense(2)	kidney(2)											157.0	134.0	142.0					12																	53877445		2203	4300	6503	SO:0001583	missense	7786			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.1322T>C	12.37:g.53877445A>G	ENSP00000267079:p.Met441Thr		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.480725	0.44044	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.75938	-0.96;-0.98;-0.98	5.12	5.12	0.69794	.	0.000000	0.56097	D	0.000033	T	0.70090	0.3184	L	0.52573	1.65	0.53005	D	0.999966	B;B	0.24882	0.113;0.069	B;B	0.30251	0.113;0.053	T	0.66268	-0.5966	10	0.30078	T	0.28	.	14.3375	0.66600	1.0:0.0:0.0:0.0	.	474;441	G3V1Y2;Q12852	.;M3K12_HUMAN	T	441;474;474	ENSP00000267079:M441T;ENSP00000449038:M474T;ENSP00000448689:M474T	ENSP00000267079:M441T	M	-	2	0	MAP3K12	52163712	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.357000	0.79456	2.288000	0.76882	0.533000	0.62120	ATG		0.547	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1		NM_006301	
MC2R	4158	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	13885108	13885108	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr18:13885108C>T	ENST00000327606.3	-	2	590	c.410G>A	c.(409-411)cGg>cAg	p.R137Q		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	137			R -> P (found in a glucocorticoid deficiency patient carrying also mutation I-74). {ECO:0000269|PubMed:20108423}.|R -> W (in GCCD1; partial loss of ACTIVITY). {ECO:0000269|PubMed:10971458, ECO:0000269|PubMed:12213892}.		G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)	p.R137Q(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GCTGTGGTACCGCAGTGCGTG	0.572																																					Colon(141;1584 1782 35999 48227 48692)												2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											116.0	87.0	96.0					18																	13885108		2203	4300	6503	SO:0001583	missense	4158				CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.410G>A	18.37:g.13885108C>T	ENSP00000333821:p.Arg137Gln		A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069126	0.36470	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T	0.40756	1.02	5.28	2.72	0.32119	GPCR, rhodopsin-like superfamily (1);	0.195180	0.45867	N	0.000323	T	0.27663	0.0680	L	0.31664	0.95	0.31073	N	0.712753	B	0.10296	0.003	B	0.16722	0.016	T	0.18650	-1.0330	10	0.27785	T	0.31	.	7.9583	0.30055	0.0:0.3005:0.0:0.6995	.	137	Q01718	ACTHR_HUMAN	Q	137	ENSP00000333821:R137Q	ENSP00000333821:R137Q	R	-	2	0	MC2R	13875108	1.000000	0.71417	0.976000	0.42696	0.828000	0.46876	0.967000	0.29344	0.317000	0.23160	-0.290000	0.09829	CGG		0.572	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			
MCPH1	79648	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	6302811	6302811	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr8:6302811A>G	ENST00000344683.5	+	8	1644	c.1568A>G	c.(1567-1569)aAt>aGt	p.N523S	MCPH1_ENST00000522905.1_Missense_Mutation_p.N475S|MCPH1_ENST00000519480.1_Missense_Mutation_p.N523S	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	523					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)	p.N523S(1)	AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CCAGAGGGAAATGGCTTTTCT	0.488																																					Colon(95;1448 1467 8277 34473 35819)												1	Substitution - Missense(1)	kidney(1)											89.0	89.0	89.0					8																	6302811		1902	4120	6022	SO:0001583	missense	79648			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1568A>G	8.37:g.6302811A>G	ENSP00000342924:p.Asn523Ser		B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	ENST00000344683.5	37	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	A	3.637	-0.074363	0.07184	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	T;T;T	0.09350	2.99;2.99;2.99	5.49	-5.4	0.02656	.	2.447740	0.01489	N	0.016993	T	0.05960	0.0155	N	0.19112	0.55	0.09310	N	1	P;B;B	0.43938	0.822;0.013;0.078	B;B;B	0.39379	0.298;0.019;0.034	T	0.40251	-0.9573	10	0.02654	T	1	1.1766	9.7626	0.40541	0.2639:0.1333:0.6029:0.0	.	475;523;523	E9PH63;Q8NEM0;E9PGU5	.;MCPH1_HUMAN;.	S	523;523;475	ENSP00000342924:N523S;ENSP00000430962:N523S;ENSP00000430768:N475S	ENSP00000342924:N523S	N	+	2	0	MCPH1	6290219	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.059000	0.11731	-1.146000	0.02854	0.533000	0.62120	AAT		0.488	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2		NM_024596	
KMT2D	8085	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	49422725	49422725	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr12:49422725T>A	ENST00000301067.7	-	45	14267	c.14268A>T	c.(14266-14268)aaA>aaT	p.K4756N		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4756					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.K4486N(1)|p.K4756N(1)									CCCCATAAGGTTTGGTATCTG	0.552																																																	2	Substitution - Missense(2)	kidney(2)											133.0	137.0	136.0					12																	49422725		1894	4123	6017	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14268A>T	12.37:g.49422725T>A	ENSP00000301067:p.Lys4756Asn		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	T	12.04	1.819278	0.32145	.	.	ENSG00000167548	ENST00000301067	D	0.81499	-1.5	4.94	0.867	0.19085	.	0.204155	0.24587	N	0.037260	T	0.72534	0.3472	L	0.46157	1.445	0.36252	D	0.853955	P	0.44877	0.845	B	0.43478	0.421	T	0.73427	-0.3986	10	0.87932	D	0	.	6.1096	0.20094	0.0:0.4562:0.0:0.5438	.	4756	O14686	MLL2_HUMAN	N	4756	ENSP00000301067:K4756N	ENSP00000301067:K4756N	K	-	3	2	MLL2	47708992	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.057000	0.30492	0.328000	0.23435	0.383000	0.25322	AAA		0.552	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			
KMT2B	9757	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36211567	36211567	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr19:36211567C>G	ENST00000222270.7	+	3	1318	c.1318C>G	c.(1318-1320)Cct>Gct	p.P440A	KMT2B_ENST00000341701.1_Missense_Mutation_p.P440A|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.P440A	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	440	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P440A(1)									gtccccaccacctctaccatc	0.677																																																	1	Substitution - Missense(1)	kidney(1)											4.0	4.0	4.0					19																	36211567		1437	3184	4621	SO:0001583	missense	9757			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.1318C>G	19.37:g.36211567C>G	ENSP00000222270:p.Pro440Ala		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	3.554	-0.090977	0.07053	.	.	ENSG00000105663	ENST00000222270;ENST00000420124;ENST00000341701	D;D;T	0.90324	-2.65;-2.65;-0.49	3.32	2.27	0.28462	.	.	.	.	.	T	0.75532	0.3862	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.17098	0.017	T	0.61187	-0.7113	9	0.06365	T	0.9	.	6.4293	0.21788	0.0:0.8596:0.0:0.1404	.	440	Q9UMN6	MLL4_HUMAN	A	440	ENSP00000222270:P440A;ENSP00000398837:P440A;ENSP00000345761:P440A	ENSP00000222270:P440A	P	+	1	0	AD000671.1	40903407	0.072000	0.21174	0.005000	0.12908	0.623000	0.37688	1.619000	0.36965	0.740000	0.32651	0.407000	0.27541	CCT		0.677	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_014727	
MRPS6	64968	hgsc.bcm.edu;ucsc.edu	37	21	35514723	35514723	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr21:35514723delT	ENST00000399312.2	+	3	379	c.201delT	c.(199-201)gatfs	p.D67fs	AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000482679.1_3'UTR	NM_032476.3	NP_115865.1	P82932	RT06_HUMAN	mitochondrial ribosomal protein S6	67					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|pancreas(1)|skin(1)	6						TCTTGGTGGATTTTTATGCAC	0.388																																																	0													101.0	96.0	98.0					21																	35514723		2203	4300	6503	SO:0001589	frameshift_variant	64968			AB051347	CCDS33548.1	21q22.11	2012-09-13	2002-06-20		ENSG00000243927	ENSG00000243927		"""Mitochondrial ribosomal proteins / small subunits"""	14051	protein-coding gene	gene with protein product		611973	"""chromosome 21 open reading frame 101"""	C21orf101			Standard	NM_032476		Approved	MRP-S6, RPMS6	uc002ytp.2	P82932	OTTHUMG00000065820	ENST00000399312.2:c.201delT	21.37:g.35514723delT	ENSP00000382250:p.Asp67fs		B2R573|Q96Q64|Q9BSK8|Q9BW89	Frame_Shift_Del	DEL	ENST00000399312.2	37	CCDS33548.1																																																																																				0.388	MRPS6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141033.1		NM_032476	
MTOR	2475	broad.mit.edu;ucsc.edu	37	1	11217299	11217299	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr1:11217299A>G	ENST00000361445.4	-	30	4455	c.4379T>C	c.(4378-4380)cTt>cCt	p.L1460P		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1460	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.L1460P(2)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	ATAGGCCACAAGGGCATCCTC	0.547																																																	2	Substitution - Missense(2)	kidney(2)											165.0	135.0	145.0					1																	11217299		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4379T>C	1.37:g.11217299A>G	ENSP00000354558:p.Leu1460Pro		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	19.98	3.926312	0.73327	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	D	0.81659	-1.52	5.69	4.55	0.56014	PIK-related kinase (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	D	0.83862	0.5346	M	0.91406	3.205	0.80722	D	1	P	0.48407	0.91	B	0.41271	0.352	D	0.85851	0.1404	10	0.87932	D	0	.	12.0845	0.53690	0.8709:0.0:0.0:0.1291	.	1460	P42345	MTOR_HUMAN	P	1460	ENSP00000354558:L1460P	ENSP00000354558:L1460P	L	-	2	0	MTOR	11139886	1.000000	0.71417	0.028000	0.17463	0.806000	0.45545	8.871000	0.92346	0.955000	0.37878	0.533000	0.62120	CTT		0.547	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1		NM_004958	
MUC4	4585	hgsc.bcm.edu	37	3	195508147	195508194	+	In_Frame_Del	DEL	GTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTGACCT	GTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTGACCT	-	rs570953070|rs200854768|rs201771865|rs372617756|rs569036865|rs200073211|rs199718961|rs531870026|rs527644110|rs542475778|rs201253018|rs550776832	byFrequency	TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	GTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTGACCT	GTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTGACCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr3:195508147_195508194delGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTGACCT	ENST00000463781.3	-	2	10716_10763	c.10257_10304delAGGTCACGCCACCCCTCTTCCTGTCACCAGCACTTCCTCAGCATCCAC	c.(10255-10305)acaggtcacgccacccctcttcctgtcaccagcacttcctcagcatccacc>acc	p.3419_3435TGHATPLPVTSTSSAST>T	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.3419_3435TGHATPLPVTSTSSAST>T	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.P3426S(1)|p.S3431S(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)		GGCGTGACCGGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTG	0.585																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	endometrium(2)																																								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.10257_10304delAGGTCACGCCACCCCTCTTCCTGTCACCAGCACTTCCTCAGCATCCAC	3.37:g.195508147_195508194delGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTGACCT	ENSP00000417498:p.Thr3419_Ser3434del		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	
MUC4	4585	broad.mit.edu	37	3	195511396	195511396	+	Missense_Mutation	SNP	G	G	A	rs201453005	byFrequency	TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr3:195511396G>A	ENST00000463781.3	-	2	7514	c.7055C>T	c.(7054-7056)cCt>cTt	p.P2352L	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P2352L	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.P2352H(2)|p.P2352L(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)		GACATGAAGAGGGGTGGCGTG	0.582																																																	3	Substitution - Missense(3)	kidney(2)|endometrium(1)											16.0	14.0	14.0					3																	195511396		674	1562	2236	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.7055C>T	3.37:g.195511396G>A	ENSP00000417498:p.Pro2352Leu		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	5.268	0.234939	0.09969	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.31247	1.5;1.51	.	.	.	.	.	.	.	.	T	0.12220	0.0297	N	0.08118	0	0.09310	N	0.999998	B	0.10296	0.003	B	0.06405	0.002	T	0.30357	-0.9981	7	.	.	.	.	2.9304	0.05797	0.3911:0.0:0.6089:0.0	.	2352	E7ESK3	.	L	2352	ENSP00000417498:P2352L;ENSP00000420243:P2352L	.	P	-	2	0	MUC4	196995791	0.028000	0.19301	0.005000	0.12908	0.064000	0.16182	1.205000	0.32308	0.488000	0.27723	0.064000	0.15345	CCT		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MYT1L	23040	hgsc.bcm.edu	37	2	1946773	1946773	+	Silent	SNP	C	C	T	rs148009982	byFrequency	TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr2:1946773C>T	ENST00000399161.2	-	9	1233	c.486G>A	c.(484-486)gaG>gaA	p.E162E	MYT1L_ENST00000428368.2_Silent_p.E162E	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	162	Asp/Glu-rich.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		cttcctcttcctcctcctcct	0.483																																																	0													53.0	54.0	54.0					2																	1946773		2039	3950	5989	SO:0001819	synonymous_variant	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.486G>A	2.37:g.1946773C>T			A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37																																																																																					0.483	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1		NM_015025	
NAV1	89796	hgsc.bcm.edu	37	1	201772833	201772833	+	Silent	SNP	A	A	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr1:201772833A>G	ENST00000367296.4	+	16	4050	c.3630A>G	c.(3628-3630)aaA>aaG	p.K1210K	NAV1_ENST00000367302.1_Silent_p.K1166K|NAV1_ENST00000367300.3_Silent_p.K1153K|NAV1_ENST00000295624.6_Silent_p.K1210K|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Silent_p.K1202K|NAV1_ENST00000367295.1_Silent_p.K819K	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1210					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AGAAGAAAAAAAAGAGTTGGG	0.493																																																	0													53.0	50.0	51.0					1																	201772833		2203	4300	6503	SO:0001819	synonymous_variant	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3630A>G	1.37:g.201772833A>G			A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	ENST00000367296.4	37	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	A	10.97	1.502324	0.26949	.	.	ENSG00000134369	ENST00000438083	D	0.94138	-3.36	5.15	-8.85	0.00799	.	0.106864	0.64402	D	0.000008	D	0.92694	0.7678	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.89868	0.4021	7	0.34782	T	0.22	-7.7561	15.5885	0.76506	0.163:0.0:0.7314:0.1056	.	.	.	.	R	193	ENSP00000389123:K193R	ENSP00000389123:K193R	K	+	2	0	NAV1	200039456	0.998000	0.40836	0.319000	0.25293	0.990000	0.78478	0.411000	0.21115	-1.997000	0.00969	0.456000	0.33151	AAA		0.493	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1		NM_020443	
NCAPH2	29781	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50956419	50956419	+	Silent	SNP	C	C	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr22:50956419C>T	ENST00000420993.2	+	6	560	c.438C>T	c.(436-438)ccC>ccT	p.P146P	NCAPH2_ENST00000395698.3_Silent_p.P146P|NCAPH2_ENST00000395701.3_Silent_p.P146P|NCAPH2_ENST00000299821.11_Silent_p.P146P	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	146					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)		p.P146P(2)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		TCATCATCCCCCTCCTGCCCA	0.617																																																	2	Substitution - coding silent(2)	kidney(2)											69.0	66.0	67.0					22																	50956419		2203	4300	6503	SO:0001819	synonymous_variant	29781			BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.438C>T	22.37:g.50956419C>T			B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Silent	SNP	ENST00000420993.2	37	CCDS14094.2	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441502	0.43326	.	.	ENSG00000025770	ENST00000496227	.	.	.	5.14	-2.88	0.05682	.	0.058631	0.64402	D	0.000002	T	0.46308	0.1386	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44236	-0.9341	6	0.72032	D	0.01	-14.9777	0.5	0.00578	0.2552:0.2746:0.1256:0.3445	.	.	.	.	S	87	.	ENSP00000355052:P146S	P	+	1	0	NCAPH2	49303285	0.008000	0.16893	0.887000	0.34795	0.732000	0.41865	-1.029000	0.03585	-0.472000	0.06881	0.462000	0.41574	CCT		0.617	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1		NM_152299	
NEB	4703	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	152476170	152476170	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr2:152476170T>C	ENST00000172853.10	-	69	10085	c.9938A>G	c.(9937-9939)cAg>cGg	p.Q3313R	NEB_ENST00000397345.3_Missense_Mutation_p.Q3556R|NEB_ENST00000603639.1_Missense_Mutation_p.Q3556R|NEB_ENST00000604864.1_Missense_Mutation_p.Q3556R|NEB_ENST00000427231.2_Missense_Mutation_p.Q3556R|NEB_ENST00000409198.1_Missense_Mutation_p.Q3313R			P20929	NEBU_HUMAN	nebulin	3313					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.Q3313R(1)|p.Q3556R(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACGGTCACTCTGCACTTTGGC	0.478																																																	2	Substitution - Missense(2)	kidney(2)											116.0	116.0	116.0					2																	152476170		1991	4171	6162	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.9938A>G	2.37:g.152476170T>C	ENSP00000172853:p.Gln3313Arg		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	T	15.46	2.840007	0.51057	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.67	4.5	0.54988	.	0.264911	0.37577	N	0.002039	T	0.56645	0.1999	M	0.77313	2.365	0.80722	D	1	P	0.34615	0.459	B	0.38880	0.284	T	0.56232	-0.8013	10	0.38643	T	0.18	.	12.3463	0.55122	0.1267:0.0:0.0:0.8733	.	3313	P20929	NEBU_HUMAN	R	3313;3556;3556;3313	ENSP00000386259:Q3313R;ENSP00000380505:Q3556R;ENSP00000416578:Q3556R;ENSP00000172853:Q3313R	ENSP00000172853:Q3313R	Q	-	2	0	NEB	152184416	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.177000	0.42509	1.051000	0.40369	0.533000	0.62120	CAG		0.478	NEB-201	KNOWN	basic	protein_coding	protein_coding			NM_004543	
NET1	10276	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	5498060	5498060	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr10:5498060T>C	ENST00000355029.4	+	11	1350	c.1208T>C	c.(1207-1209)aTt>aCt	p.I403T	NET1_ENST00000484741.1_3'UTR|NET1_ENST00000380359.3_Missense_Mutation_p.I349T|NET1_ENST00000542715.1_Missense_Mutation_p.I222T	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	403	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I403T(1)|p.I349T(1)		breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						AAACTTTACATTTTCCTGTTT	0.403																																																	2	Substitution - Missense(2)	kidney(2)											66.0	71.0	69.0					10																	5498060		2203	4300	6503	SO:0001583	missense	10276			AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.1208T>C	10.37:g.5498060T>C	ENSP00000347134:p.Ile403Thr		Q12773|Q96D82|Q99903|Q9UEN6	Missense_Mutation	SNP	ENST00000355029.4	37	CCDS41483.1	.	.	.	.	.	.	.	.	.	.	T	17.51	3.406663	0.62399	.	.	ENSG00000173848	ENST00000355029;ENST00000542715;ENST00000380359	T;T;T	0.32515	1.45;1.45;1.45	5.78	5.78	0.91487	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.162288	0.27981	N	0.017061	T	0.28267	0.0698	L	0.29908	0.895	0.50039	D	0.999841	B;B	0.22003	0.063;0.063	B;B	0.29440	0.102;0.102	T	0.06481	-1.0824	10	0.66056	D	0.02	-7.1746	14.9254	0.70875	0.0:0.0:0.0:1.0	.	349;403	Q5SQI7;Q7Z628	.;ARHG8_HUMAN	T	403;222;349	ENSP00000347134:I403T;ENSP00000446452:I222T;ENSP00000369717:I349T	ENSP00000347134:I403T	I	+	2	0	NET1	5488060	1.000000	0.71417	0.996000	0.52242	0.924000	0.55760	7.970000	0.88000	2.208000	0.71279	0.455000	0.32223	ATT		0.403	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3		NM_005863	
NLRP2	55655	broad.mit.edu;ucsc.edu	37	19	55485895	55485895	+	Missense_Mutation	SNP	G	G	T	rs527789643		TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr19:55485895G>T	ENST00000543010.1	+	3	451	c.308G>T	c.(307-309)aGg>aTg	p.R103M	NLRP2_ENST00000263437.6_Missense_Mutation_p.R103M|NLRP2_ENST00000537859.1_Missense_Mutation_p.R103M|NLRP2_ENST00000538819.1_Missense_Mutation_p.R103M|NLRP2_ENST00000339757.7_Missense_Mutation_p.R103M|NLRP2_ENST00000391721.4_Missense_Mutation_p.R103M|NLRP2_ENST00000427260.2_Missense_Mutation_p.R80M|NLRP2_ENST00000448584.2_Missense_Mutation_p.R103M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	103					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)	p.R103K(1)|p.R103M(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TTTAATAAAAGGAAGCCTCTA	0.358																																																	2	Substitution - Missense(2)	NS(1)|kidney(1)											97.0	99.0	98.0					19																	55485895		2202	4300	6502	SO:0001583	missense	55655			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.308G>T	19.37:g.55485895G>T	ENSP00000445135:p.Arg103Met		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	G	0.404	-0.916853	0.02415	.	.	ENSG00000022556	ENST00000433772;ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437;ENST00000397169	T;T;T;T;T;T;T;T;T;T	0.74315	-0.27;-0.83;-0.77;-0.77;-0.83;-0.77;-0.8;-0.77;-0.83;-0.47	1.42	-2.63	0.06133	.	.	.	.	.	T	0.53610	0.1807	N	0.14661	0.345	0.09310	N	1	P;B;P;B;B	0.46220	0.802;0.028;0.874;0.028;0.028	B;B;P;B;B	0.44811	0.326;0.008;0.461;0.013;0.009	T	0.47749	-0.9093	9	0.45353	T	0.12	.	2.2886	0.04133	0.3446:0.0:0.3951:0.2603	.	80;103;103;103;103	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	M	103;103;103;103;103;103;80;103;103;35	ENSP00000443519:R103M;ENSP00000445135:R103M;ENSP00000375601:R103M;ENSP00000344074:R103M;ENSP00000409370:R103M;ENSP00000440601:R103M;ENSP00000402474:R80M;ENSP00000441133:R103M;ENSP00000263437:R103M;ENSP00000441363:R35M	ENSP00000263437:R103M	R	+	2	0	NLRP2	60177707	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.108000	0.10857	-0.977000	0.03537	-0.340000	0.08031	AGG		0.358	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1		NM_017852	
NOTCH2	4853	hgsc.bcm.edu;ucsc.edu	37	1	120480035	120480035	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr1:120480035delT	ENST00000256646.2	-	21	3611	c.3392delA	c.(3391-3393)aacfs	p.N1131fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1131	EGF-like 29. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTAATGCGTGTTGCCAGCATT	0.542			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													76.0	64.0	68.0					1																	120480035		2203	4300	6503	SO:0001589	frameshift_variant	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.3392delA	1.37:g.120480035delT	ENSP00000256646:p.Asn1131fs		Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	CCDS908.1																																																																																				0.542	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1		NM_024408	
NUDT7	283927	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	77775769	77775769	+	Missense_Mutation	SNP	A	A	C	rs551181072		TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr16:77775769A>C	ENST00000268533.5	+	4	708	c.639A>C	c.(637-639)caA>caC	p.Q213H	NUDT7_ENST00000564031.1_3'UTR|RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000564085.1_3'UTR|NUDT7_ENST00000437314.3_Missense_Mutation_p.Q160H	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	213					acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)	p.Q213H(1)		breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						TTGAGGTTCAATTTAATCTTA	0.388																																																	1	Substitution - Missense(1)	kidney(1)											63.0	58.0	60.0					16																	77775769		1825	4090	5915	SO:0001583	missense	283927			AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"""Nudix motif containing"""	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.639A>C	16.37:g.77775769A>C	ENSP00000268533:p.Gln213His		B4DLE5|H3BUB8	Missense_Mutation	SNP	ENST00000268533.5	37	CCDS42195.1	.	.	.	.	.	.	.	.	.	.	A	8.440	0.850629	0.17034	.	.	ENSG00000140876	ENST00000268533;ENST00000437314	T;T	0.43688	1.5;0.94	5.4	-3.36	0.04913	.	0.650666	0.15616	N	0.253132	T	0.15089	0.0364	N	0.08118	0	0.20403	N	0.999905	B;B	0.10296	0.001;0.003	B;B	0.08055	0.003;0.002	T	0.07424	-1.0773	10	0.40728	T	0.16	-3.0372	0.3921	0.00412	0.2733:0.2366:0.1441:0.346	.	160;213	B4DLE5;P0C024	.;NUDT7_HUMAN	H	213;160	ENSP00000268533:Q213H;ENSP00000387707:Q160H	ENSP00000268533:Q213H	Q	+	3	2	NUDT7	76333270	0.000000	0.05858	0.001000	0.08648	0.516000	0.34256	-2.812000	0.00754	-1.061000	0.03185	0.459000	0.35465	CAA		0.388	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433873.1			
OAS1	4938	hgsc.bcm.edu;ucsc.edu	37	12	113357245	113357246	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr12:113357245_113357246delAA	ENST00000202917.5	+	6	1353_1354	c.1090_1091delAA	c.(1090-1092)aaafs	p.K364fs	OAS1_ENST00000551241.1_Intron|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Intron	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	364					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GAGGTATCAGAAATATGGTTAC	0.515																																																	0																																										SO:0001589	frameshift_variant	4938			X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"""2',5'-oligoadenylate synthetase 1 (40-46 kD)"""	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.1090_1091delAA	12.37:g.113357245_113357246delAA	ENSP00000202917:p.Lys364fs		A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Frame_Shift_Del	DEL	ENST00000202917.5	37	CCDS41838.1																																																																																				0.515	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2			
OPLAH	26873	hgsc.bcm.edu	37	8	145113732	145113732	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr8:145113732C>G	ENST00000426825.1	-	5	612	c.531G>C	c.(529-531)gaG>gaC	p.E177D	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	177					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATAGCAGCCCCTCCAGCTTCC	0.677																																																	0													16.0	22.0	20.0					8																	145113732		2055	4187	6242	SO:0001583	missense	26873			AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.531G>C	8.37:g.145113732C>G	ENSP00000475943:p.Glu177Asp		A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37		.	.	.	.	.	.	.	.	.	.	C	14.84	2.656718	0.47467	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.77	2.97	0.34412	Hydantoinaseoxoprolinase, N-terminal (1);	0.292350	0.36134	N	0.002768	T	0.42381	0.1200	.	.	.	0.27079	N	0.963132	B	0.27013	0.166	B	0.31101	0.124	T	0.50466	-0.8825	7	0.46703	T	0.11	.	8.6738	0.34167	0.0:0.8114:0.0:0.1886	.	177	O14841	OPLA_HUMAN	D	177	.	ENSP00000412071:E177D	E	-	3	2	OPLAH	145185720	0.344000	0.24827	1.000000	0.80357	0.974000	0.67602	0.235000	0.17948	0.458000	0.26988	0.561000	0.74099	GAG		0.677	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_017570	
OR10G7	390265	broad.mit.edu;hgsc.bcm.edu	37	11	123909163	123909163	+	Silent	SNP	G	G	C			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr11:123909163G>C	ENST00000330487.5	-	1	554	c.546C>G	c.(544-546)ccC>ccG	p.P182P		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P182P(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GTTTCAGGATGGGCGGTGCGT	0.532																																																	1	Substitution - coding silent(1)	kidney(1)											213.0	205.0	208.0					11																	123909163		2201	4297	6498	SO:0001819	synonymous_variant	390265			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.546C>G	11.37:g.123909163G>C			Q6IFE8	Silent	SNP	ENST00000330487.5	37	CCDS31705.1																																																																																				0.532	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1		NM_001004463	
OR13C8	138802	broad.mit.edu;ucsc.edu	37	9	107331603	107331603	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr9:107331603A>G	ENST00000335040.1	+	1	155	c.155A>G	c.(154-156)gAt>gGt	p.D52G		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D52G(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ATCATCTTTGATTCTCACCTG	0.443																																																	1	Substitution - Missense(1)	kidney(1)											333.0	310.0	318.0					9																	107331603		2203	4300	6503	SO:0001583	missense	138802				CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.155A>G	9.37:g.107331603A>G	ENSP00000334068:p.Asp52Gly		Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.745769	0.49151	.	.	ENSG00000186943	ENST00000335040	T	0.00932	5.53	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.100033	0.43919	D	0.000513	T	0.03695	0.0105	M	0.94142	3.5	0.36012	D	0.838151	B	0.30193	0.272	B	0.33042	0.157	T	0.00567	-1.1667	10	0.87932	D	0	.	12.9272	0.58266	1.0:0.0:0.0:0.0	.	52	Q8NGS7	O13C8_HUMAN	G	52	ENSP00000334068:D52G	ENSP00000334068:D52G	D	+	2	0	OR13C8	106371424	0.908000	0.30866	0.782000	0.31804	0.763000	0.43281	4.044000	0.57361	2.212000	0.71576	0.533000	0.62120	GAT		0.443	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			
OR52W1	120787	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6220794	6220795	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr11:6220794_6220795CC>AA	ENST00000311352.2	+	1	419_420	c.341_342CC>AA	c.(340-342)gCC>gAA	p.A114E	RP11-290F24.6_ENST00000600308.1_lincRNA	NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A114A(1)|p.A114D(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCACTGACTGCCATGGAATCAG	0.569																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	120787			AB065511	CCDS31407.1	11p15.4	2012-08-09		2004-03-10	ENSG00000175485	ENSG00000175485		"""GPCR / Class A : Olfactory receptors"""	15239	protein-coding gene	gene with protein product				OR52W1P			Standard	NM_001005178		Approved		uc010qzz.2	Q6IF63	OTTHUMG00000165378	Exception_encountered	11.37:g.6220794_6220795delinsAA	ENSP00000309673:p.Ala114Glu		Q8NH78	Missense_Mutation|Silent	SNP	ENST00000311352.2	37	CCDS31407.1																																																																																				0.569	OR52W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383758.1		NM_001005178	
OR5M1	390168	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	56380039	56380039	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr11:56380039C>A	ENST00000526538.1	-	1	939	c.940G>T	c.(940-942)Gca>Tca	p.A314S		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	314						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A314S(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GCCTAAACTGCAATTTTATGA	0.378																																																	1	Substitution - Missense(1)	kidney(1)											118.0	117.0	117.0					11																	56380039		1847	4094	5941	SO:0001583	missense	390168			AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.940G>T	11.37:g.56380039C>A	ENSP00000435416:p.Ala314Ser		Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.503119	0.26949	.	.	ENSG00000255012	ENST00000526538	T	0.03181	4.02	3.78	0.63	0.17693	.	.	.	.	.	T	0.01421	0.0046	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.14023	0.01	T	0.48399	-0.9039	9	0.07644	T	0.81	.	3.4003	0.07321	0.2086:0.5565:0.0:0.2349	.	314	Q8NGP8	OR5M1_HUMAN	S	314	ENSP00000435416:A314S	ENSP00000435416:A314S	A	-	1	0	OR5M1	56136615	0.000000	0.05858	0.000000	0.03702	0.257000	0.26127	-0.094000	0.11094	-0.070000	0.12908	0.280000	0.19369	GCA		0.378	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1		NM_001004740	
PCDHB11	56125	hgsc.bcm.edu;ucsc.edu	37	5	140580390	140580391	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr5:140580390_140580391insT	ENST00000354757.3	+	1	1043_1044	c.1043_1044insT	c.(1042-1047)actgtgfs	p.V349fs	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	349					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGAAATCACTGTGTCATCAA	0.401																																																	0																																										SO:0001589	frameshift_variant	56125			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1044dupT	5.37:g.140580391_140580391dupT	ENSP00000346802:p.Val349fs		B4DSF7|Q2M223	Frame_Shift_Ins	INS	ENST00000354757.3	37	CCDS4253.1																																																																																				0.401	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1		NM_018931	
PDE4DIP	9659	broad.mit.edu	37	1	144923791	144923791	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr1:144923791T>G	ENST00000369354.3	-	6	856	c.667A>C	c.(667-669)Aag>Cag	p.K223Q	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.K223Q|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.K360Q|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.K360Q|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.K386Q|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.K223Q|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.K10Q|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.K386Q|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.K223Q|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.K289Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	223					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.K223Q(2)|p.K386Q(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GAATTCAGCTTTTGTTGTTTC	0.428			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	3	Substitution - Missense(3)	kidney(3)											249.0	224.0	233.0					1																	144923791		2203	4300	6503	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.667A>C	1.37:g.144923791T>G	ENSP00000358360:p.Lys223Gln		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	T	6.517	0.463637	0.12402	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.12039	4.65;4.74;4.74;4.75;4.75;3.74;3.74;2.76;2.76;2.72	5.89	4.77	0.60923	.	.	.	.	.	T	0.03608	0.0103	L	0.45581	1.43	0.20975	N	0.999819	B;B;B;B;P	0.44627	0.053;0.279;0.134;0.289;0.839	B;B;B;B;B	0.35971	0.013;0.124;0.027;0.051;0.215	T	0.32561	-0.9902	9	0.34782	T	0.22	.	2.9336	0.05808	0.2142:0.1258:0.0:0.66	.	386;223;386;289;223	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	Q	289;223;223;386;360;360;223;223;386;386;10	ENSP00000327209:K289Q;ENSP00000358360:K223Q;ENSP00000358363:K223Q;ENSP00000435654:K360Q;ENSP00000358366:K360Q;ENSP00000358357:K223Q;ENSP00000358355:K223Q;ENSP00000316434:K386Q;ENSP00000433392:K386Q;ENSP00000436791:K10Q	ENSP00000327209:K289Q	K	-	1	0	PDE4DIP	143635148	0.962000	0.33011	0.139000	0.22197	0.143000	0.21401	1.457000	0.35212	2.254000	0.74563	0.459000	0.35465	AAG		0.428	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359	
PIK3R4	30849	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	130463550	130463550	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr3:130463550C>A	ENST00000356763.3	-	2	1070	c.513G>T	c.(511-513)aaG>aaT	p.K171N		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	171	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K171N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GATAAGTGGGCTTAAAACTGG	0.423																																																	1	Substitution - Missense(1)	kidney(1)											82.0	82.0	82.0					3																	130463550		2203	4300	6503	SO:0001583	missense	30849			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.513G>T	3.37:g.130463550C>A	ENSP00000349205:p.Lys171Asn		Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780086	0.70222	.	.	ENSG00000196455	ENST00000356763	T	0.13420	2.59	5.18	-7.34	0.01427	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.32346	0.0826	M	0.85197	2.74	0.80722	D	1	D	0.64830	0.994	D	0.66351	0.943	T	0.54241	-0.8323	10	0.66056	D	0.02	-13.4823	15.4712	0.75441	0.0:0.6168:0.0:0.3832	.	171	Q99570	PI3R4_HUMAN	N	171	ENSP00000349205:K171N	ENSP00000349205:K171N	K	-	3	2	PIK3R4	131946240	0.821000	0.29204	0.936000	0.37596	0.980000	0.70556	-0.062000	0.11674	-1.192000	0.02691	-0.672000	0.03802	AAG		0.423	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1		NM_014602	
PILRA	29992	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99997510	99997510	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr7:99997510T>A	ENST00000198536.2	+	7	1104	c.892T>A	c.(892-894)Tac>Aac	p.Y298N	PILRA_ENST00000394000.2_3'UTR|PILRA_ENST00000350573.2_Missense_Mutation_p.Y225N|PILRA_ENST00000453419.1_Missense_Mutation_p.V212E	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	298					signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y298N(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGAGACCCTGTACTCTGTCTT	0.582																																																	1	Substitution - Missense(1)	kidney(1)											128.0	121.0	123.0					7																	99997510		2203	4300	6503	SO:0001583	missense	29992			AF161080	CCDS5691.1, CCDS5692.1, CCDS47660.1	7q22.1	2013-01-11			ENSG00000085514	ENSG00000085514		"""Immunoglobulin superfamily / V-set domain containing"""	20396	protein-coding gene	gene with protein product		605341				10660620	Standard	NM_178272		Approved	FDF03	uc003uuo.1	Q9UKJ1	OTTHUMG00000155248	ENST00000198536.2:c.892T>A	7.37:g.99997510T>A	ENSP00000198536:p.Tyr298Asn		Q8NHI1	Missense_Mutation	SNP	ENST00000198536.2	37	CCDS5691.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.47|18.47	3.630836|3.630836	0.67015|0.67015	.|.	.|.	ENSG00000085514|ENSG00000085514	ENST00000453419|ENST00000198536;ENST00000350573	T|T;T	0.20598|0.46063	2.06|0.88;0.88	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|0.000000	.|0.35525	.|N	.|0.003153	T|T	0.59307|0.59307	0.2184|0.2184	M|M	0.61703|0.61703	1.905|1.905	0.22317|0.22317	N|N	0.999206|0.999206	D|D;D	0.65815|0.89917	0.995|1.0;1.0	P|D;D	0.60886|0.87578	0.88|0.998;0.995	T|T	0.52711|0.52711	-0.8539|-0.8539	8|9	.|.	.|.	.|.	.|.	11.6597|11.6597	0.51339|0.51339	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	212|225;298	C9JJ79|Q9UKJ1-3;Q9UKJ1	.|.;PILRA_HUMAN	E|N	212|298;225	ENSP00000390026:V212E|ENSP00000198536:Y298N;ENSP00000340109:Y225N	.|.	V|Y	+|+	2|1	0|0	PILRA|PILRA	99835446|99835446	0.451000|0.451000	0.25705|0.25705	0.299000|0.299000	0.25016|0.25016	0.028000|0.028000	0.11728|0.11728	2.945000|2.945000	0.49043|0.49043	2.194000|2.194000	0.70268|0.70268	0.528000|0.528000	0.53228|0.53228	GTA|TAC		0.582	PILRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339016.1		NM_013439	
PLSCR4	57088	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	145914562	145914562	+	Missense_Mutation	SNP	G	G	C	rs149266233		TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr3:145914562G>C	ENST00000354952.2	-	7	883	c.643C>G	c.(643-645)Cct>Gct	p.P215A	PLSCR4_ENST00000433593.2_Missense_Mutation_p.P110A|PLSCR4_ENST00000493382.1_Missense_Mutation_p.P215A|PLSCR4_ENST00000383083.2_Missense_Mutation_p.P125A|PLSCR4_ENST00000446574.2_Missense_Mutation_p.P215A	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	215					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)	p.P215A(1)		kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						GTGACACCAGGAGGACACTGC	0.458																																																	1	Substitution - Missense(1)	kidney(1)											88.0	74.0	79.0					3																	145914562		2203	4300	6503	SO:0001583	missense	57088			AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.643C>G	3.37:g.145914562G>C	ENSP00000347038:p.Pro215Ala		A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Missense_Mutation	SNP	ENST00000354952.2	37	CCDS3133.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509039	0.85282	.	.	ENSG00000114698	ENST00000354952;ENST00000383083;ENST00000433593;ENST00000446574;ENST00000493382;ENST00000460350;ENST00000460885	T;T;T;T;T;T;T	0.30448	1.53;1.93;1.93;1.53;1.53;1.93;1.93	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000013	T	0.59662	0.2210	M	0.81112	2.525	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.64309	-0.6438	10	0.87932	D	0	.	17.6162	0.88068	0.0:0.0:1.0:0.0	.	125;215	E9PHR9;Q9NRQ2	.;PLS4_HUMAN	A	215;125;110;215;215;215;125	ENSP00000347038:P215A;ENSP00000372561:P125A;ENSP00000415605:P110A;ENSP00000399315:P215A;ENSP00000419040:P215A;ENSP00000417896:P215A;ENSP00000420385:P125A	ENSP00000347038:P215A	P	-	1	0	PLSCR4	147397252	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	8.458000	0.90364	2.683000	0.91414	0.655000	0.94253	CCT		0.458	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1		NM_020353	
PLCH1	23007	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	155212209	155212209	+	Silent	SNP	G	G	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr3:155212209G>A	ENST00000340059.7	-	15	1955	c.1956C>T	c.(1954-1956)ctC>ctT	p.L652L	PLCH1_ENST00000447496.2_Silent_p.L652L|PLCH1_ENST00000414191.1_Silent_p.L634L|PLCH1_ENST00000334686.6_Silent_p.L634L|PLCH1_ENST00000460012.1_Silent_p.L634L|PLCH1_ENST00000494598.1_Silent_p.L652L	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	652	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.L634L(1)|p.L652L(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AAATCCTCGTGAGTTGCTTTT	0.453																																																	2	Substitution - coding silent(2)	kidney(2)											169.0	158.0	162.0					3																	155212209		2203	4300	6503	SO:0001819	synonymous_variant	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1956C>T	3.37:g.155212209G>A			Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	CCDS46939.1																																																																																				0.453	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1		NM_014996	
PPRC1	23082	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	103901173	103901173	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr10:103901173G>A	ENST00000278070.2	+	5	2947	c.2908G>A	c.(2908-2910)Gtc>Atc	p.V970I	PPRC1_ENST00000413464.2_Missense_Mutation_p.V970I|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	970	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V970I(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCCTGCCCCAGTCTCACCTTA	0.627																																																	1	Substitution - Missense(1)	kidney(1)											66.0	59.0	62.0					10																	103901173		2203	4300	6503	SO:0001583	missense	23082			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.2908G>A	10.37:g.103901173G>A	ENSP00000278070:p.Val970Ile		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466994	0.43839	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.25250	1.83;1.81	5.79	4.89	0.63831	.	0.084168	0.44902	D	0.000412	T	0.17874	0.0429	L	0.29908	0.895	0.25882	N	0.983571	B;B;B	0.17268	0.012;0.021;0.012	B;B;B	0.15484	0.006;0.013;0.006	T	0.13282	-1.0515	10	0.48119	T	0.1	.	7.7986	0.29162	0.0805:0.0:0.7201:0.1994	.	970;850;970	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	I	970	ENSP00000278070:V970I;ENSP00000399743:V970I	ENSP00000278070:V970I	V	+	1	0	PPRC1	103891163	0.000000	0.05858	1.000000	0.80357	0.983000	0.72400	0.031000	0.13710	1.459000	0.47892	0.462000	0.41574	GTC		0.627	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1		NM_015062	
PRDM14	63978	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	70981476	70981476	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr8:70981476T>C	ENST00000276594.2	-	2	821	c.620A>G	c.(619-621)tAc>tGc	p.Y207C		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	207					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.Y207C(1)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AGTGACCCCGTACAGAACGAA	0.602																																					NSCLC(129;99 1813 5906 40656 46114)												1	Substitution - Missense(1)	kidney(1)											81.0	84.0	83.0					8																	70981476		2203	4300	6503	SO:0001583	missense	63978			AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.620A>G	8.37:g.70981476T>C	ENSP00000276594:p.Tyr207Cys		Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	T	11.12	1.544767	0.27563	.	.	ENSG00000147596	ENST00000276594	T	0.22945	1.93	4.98	2.56	0.30785	.	0.067331	0.64402	D	0.000008	T	0.27027	0.0662	M	0.78049	2.395	0.49582	D	0.9998	B	0.26445	0.149	B	0.23419	0.046	T	0.07751	-1.0756	10	0.87932	D	0	-14.4652	5.8946	0.18931	0.155:0.0817:0.0:0.7632	.	207	Q9GZV8	PRD14_HUMAN	C	207	ENSP00000276594:Y207C	ENSP00000276594:Y207C	Y	-	2	0	PRDM14	71144030	1.000000	0.71417	0.004000	0.12327	0.001000	0.01503	4.455000	0.60075	0.364000	0.24374	-0.250000	0.11733	TAC		0.602	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			
PTCH2	8643	broad.mit.edu;hgsc.bcm.edu	37	1	45288276	45288276	+	Silent	SNP	A	A	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr1:45288276A>T	ENST00000372192.3	-	22	3553	c.3423T>A	c.(3421-3423)ctT>ctA	p.L1141L	RNU5E-6P_ENST00000365574.1_RNA|PTCH2_ENST00000447098.2_Silent_p.L1141L	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	1141					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)	p.L1141L(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCCCCCACCTAAGCCCGCCTC	0.632									Basal Cell Nevus syndrome																																								1	Substitution - coding silent(1)	kidney(1)											83.0	90.0	88.0					1																	45288276		2203	4300	6503	SO:0001819	synonymous_variant	8643	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.3423T>A	1.37:g.45288276A>T			O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Silent	SNP	ENST00000372192.3	37	CCDS516.1	.	.	.	.	.	.	.	.	.	.	a	0.730	-0.780260	0.02929	.	.	ENSG00000117425	ENST00000438067	.	.	.	4.25	0.0333	0.14179	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.8251	2.2727	0.04095	0.1683:0.2739:0.4175:0.1403	.	.	.	.	K	62	.	.	X	-	1	0	PTCH2	45060863	0.074000	0.21230	0.999000	0.59377	0.085000	0.17905	0.375000	0.20518	0.101000	0.17610	-2.507000	0.00189	TAG		0.632	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4		NM_003738	
PTH1R	5745	broad.mit.edu;ucsc.edu	37	3	46939429	46939429	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr3:46939429A>G	ENST00000313049.5	+	4	601	c.398A>G	c.(397-399)gAc>gGc	p.D133G	PTH1R_ENST00000430002.2_Missense_Mutation_p.D133G|PTH1R_ENST00000418619.1_Missense_Mutation_p.D133G|PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000449590.1_Missense_Mutation_p.D133G			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	133					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)	p.D133G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	CCCTGTCCGGACTACATTTAT	0.612																																																	1	Substitution - Missense(1)	kidney(1)											63.0	63.0	63.0					3																	46939429		2203	4300	6503	SO:0001583	missense	5745				CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"""GPCR / Class B : Parathyroid hormone receptors"""	9608	protein-coding gene	gene with protein product		168468	"""parathyroid hormone receptor 1"""	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.398A>G	3.37:g.46939429A>G	ENSP00000321999:p.Asp133Gly		Q2M1U3	Missense_Mutation	SNP	ENST00000313049.5	37	CCDS2747.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.778190	0.49786	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	5.24	5.24	0.73138	GPCR, family 2, extracellular hormone receptor domain (3);	.	.	.	.	T	0.40322	0.1112	N	0.25332	0.735	0.51233	D	0.999911	B	0.09022	0.002	B	0.15052	0.012	T	0.20405	-1.0276	9	0.33141	T	0.24	.	13.1052	0.59244	1.0:0.0:0.0:0.0	.	133	Q03431	PTH1R_HUMAN	G	133	ENSP00000402723:D133G;ENSP00000411424:D133G;ENSP00000400977:D133G;ENSP00000413774:D133G;ENSP00000321999:D133G	ENSP00000321999:D133G	D	+	2	0	PTH1R	46914433	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	7.167000	0.77562	1.983000	0.57843	0.459000	0.35465	GAC		0.612	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1		NM_000316	
RABEP1	9135	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	5264813	5264813	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr17:5264813C>T	ENST00000546142.2	+	9	1593	c.1406C>T	c.(1405-1407)aCc>aTc	p.T469I	RABEP1_ENST00000537505.1_Missense_Mutation_p.T426I|RABEP1_ENST00000341923.6_Missense_Mutation_p.T469I|NUP88_ENST00000573169.1_5'UTR|RABEP1_ENST00000262477.6_Missense_Mutation_p.T469I|RP11-420A6.2_ENST00000572792.1_RNA|RABEP1_ENST00000408982.2_Missense_Mutation_p.T469I			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	469					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)	p.T469I(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						TTTATGTTAACCAAAGATCAG	0.498																																																	1	Substitution - Missense(1)	kidney(1)											115.0	115.0	115.0					17																	5264813		2060	4198	6258	SO:0001583	missense	9135			AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.1406C>T	17.37:g.5264813C>T	ENSP00000437701:p.Thr469Ile		B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	ENST00000546142.2	37	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852442	0.91355	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.55234	0.54;0.56;0.54;0.56;0.53	5.54	5.54	0.83059	Rabaptin coiled-coil domain (1);	0.000000	0.85682	D	0.000000	T	0.67429	0.2892	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.999;0.998	T	0.62224	-0.6899	10	0.34782	T	0.22	-7.4544	18.8588	0.92264	0.0:1.0:0.0:0.0	.	426;426;462;469;469	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2	.;.;.;RABE1_HUMAN;.	I	469;469;462;469;469;426	ENSP00000262477:T469I;ENSP00000386150:T469I;ENSP00000437701:T469I;ENSP00000339569:T469I;ENSP00000445408:T426I	ENSP00000262477:T469I	T	+	2	0	RABEP1	5205537	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.686000	0.84128	2.779000	0.95612	0.655000	0.94253	ACC		0.498	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1		NM_004703	
RAD54L	8438	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	46714224	46714224	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr1:46714224C>A	ENST00000371975.4	+	2	718	c.44C>A	c.(43-45)cCt>cAt	p.P15H	RAD54L_ENST00000442598.1_Missense_Mutation_p.P15H	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	15					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.P15H(1)		breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AAGAGAAAACCTGAAGGCAGG	0.547								Direct reversal of damage;Homologous recombination																																									1	Substitution - Missense(1)	kidney(1)											67.0	70.0	69.0					1																	46714224		2203	4300	6503	SO:0001583	missense	8438			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.44C>A	1.37:g.46714224C>A	ENSP00000361043:p.Pro15His		Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	CCDS532.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623592	0.28889	.	.	ENSG00000085999	ENST00000442598;ENST00000371975	D;D	0.88277	-2.36;-2.36	5.69	4.78	0.61160	.	0.487586	0.23314	N	0.049526	T	0.78123	0.4234	N	0.08118	0	0.29560	N	0.850697	B	0.25272	0.122	B	0.22601	0.04	T	0.73300	-0.4026	10	0.45353	T	0.12	-7.8326	12.9196	0.58224	0.0:0.9243:0.0:0.0757	.	15	Q92698	RAD54_HUMAN	H	15	ENSP00000396113:P15H;ENSP00000361043:P15H	ENSP00000361043:P15H	P	+	2	0	RAD54L	46486811	0.663000	0.27448	0.178000	0.23040	0.026000	0.11368	1.527000	0.35975	1.548000	0.49413	0.655000	0.94253	CCT		0.547	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1		NM_003579	
RGS12	6002	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	3318132	3318132	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr4:3318132G>T	ENST00000344733.5	+	2	1139	c.235G>T	c.(235-237)Gat>Tat	p.D79Y	RGS12_ENST00000336727.3_Missense_Mutation_p.D79Y|RGS12_ENST00000543385.1_Missense_Mutation_p.D79Y|RGS12_ENST00000382788.3_Missense_Mutation_p.D79Y	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	79	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)	p.D79Y(1)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATCTCATGAAGATGTAGTGAA	0.507																																																	1	Substitution - Missense(1)	kidney(1)											64.0	64.0	64.0					4																	3318132		2203	4300	6503	SO:0001583	missense	6002			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.235G>T	4.37:g.3318132G>T	ENSP00000339381:p.Asp79Tyr		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656473	0.47467	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	4.72	4.72	0.59763	PDZ/DHR/GLGF (4);	0.052390	0.64402	D	0.000001	T	0.72053	0.3413	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.995;0.992	T	0.78181	-0.2304	10	0.72032	D	0.01	-31.8	16.6763	0.85280	0.0:0.0:1.0:0.0	.	79;79;79	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	Y	79	ENSP00000440566:D79Y;ENSP00000339381:D79Y;ENSP00000338509:D79Y;ENSP00000372238:D79Y	ENSP00000338509:D79Y	D	+	1	0	RGS12	3287930	1.000000	0.71417	0.049000	0.19019	0.017000	0.09413	7.637000	0.83313	2.176000	0.68965	0.491000	0.48974	GAT		0.507	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1		NM_002926	
ROPN1B	152015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	125702160	125702160	+	Silent	SNP	G	G	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr3:125702160G>A	ENST00000514116.1	+	7	951	c.636G>A	c.(634-636)gaG>gaA	p.E212E	ROPN1B_ENST00000251776.4_Silent_p.E212E|ROPN1B_ENST00000511082.1_Silent_p.E120E|ROPN1B_ENST00000505382.1_Silent_p.E120E			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	212	Interaction with RHPN1. {ECO:0000250}.				acrosome reaction (GO:0007340)|cytokinesis (GO:0000910)|fusion of sperm to egg plasma membrane (GO:0007342)|Rho protein signal transduction (GO:0007266)|single organismal cell-cell adhesion (GO:0016337)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor signaling complex scaffold activity (GO:0030159)	p.E212E(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		TTTGGCTGGAGTAACAGCACA	0.373																																																	1	Substitution - coding silent(1)	kidney(1)											107.0	100.0	102.0					3																	125702160		2203	4300	6503	SO:0001819	synonymous_variant	152015			AF231410	CCDS33841.1	3q21.2	2011-01-20	2011-01-20		ENSG00000114547	ENSG00000114547			31927	protein-coding gene	gene with protein product			"""ropporin, rhophilin associated protein 1B"""				Standard	XM_005247137		Approved		uc003eih.3	Q9BZX4	OTTHUMG00000162651	ENST00000514116.1:c.636G>A	3.37:g.125702160G>A			D3DNA6|Q96BM7	Silent	SNP	ENST00000514116.1	37	CCDS33841.1																																																																																				0.373	ROPN1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369931.1		NM_001012337	
SALL1	6299	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	51174807	51174807	+	Silent	SNP	G	G	C	rs143605364		TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr16:51174807G>C	ENST00000251020.4	-	2	1359	c.1326C>G	c.(1324-1326)tcC>tcG	p.S442S	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_Silent_p.S345S|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	442					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S442S(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ATGCCTCATCGGAAGTACTTT	0.502																																					GBM(103;1352 1446 1855 4775 8890)												1	Substitution - coding silent(1)	kidney(1)											109.0	101.0	104.0					16																	51174807		2198	4300	6498	SO:0001819	synonymous_variant	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1326C>G	16.37:g.51174807G>C			Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	CCDS10747.1																																																																																				0.502	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2		NM_002968	
SASS6	163786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	100572485	100572485	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr1:100572485A>T	ENST00000287482.5	-	12	1531	c.1391T>A	c.(1390-1392)cTa>cAa	p.L464Q	SASS6_ENST00000535161.1_Missense_Mutation_p.L297Q|SASS6_ENST00000462159.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	464					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)		p.L464Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		ATTATTTTTTAGAAGTTGTTT	0.294																																																	1	Substitution - Missense(1)	kidney(1)											76.0	76.0	76.0					1																	100572485		2190	4293	6483	SO:0001583	missense	163786			AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.1391T>A	1.37:g.100572485A>T	ENSP00000287482:p.Leu464Gln		D3DT55|Q8N3K0	Missense_Mutation	SNP	ENST00000287482.5	37	CCDS764.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.343752	0.82022	.	.	ENSG00000156876	ENST00000287482;ENST00000539329;ENST00000535161	T;T	0.63580	2.33;-0.05	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.75824	0.3902	M	0.78637	2.42	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.79647	-0.1716	10	0.72032	D	0.01	-8.3752	16.2348	0.82365	1.0:0.0:0.0:0.0	.	464	Q6UVJ0	SAS6_HUMAN	Q	464;437;297	ENSP00000287482:L464Q;ENSP00000440169:L297Q	ENSP00000287482:L464Q	L	-	2	0	SASS6	100345073	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.652000	0.83633	2.229000	0.72834	0.477000	0.44152	CTA		0.294	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2		NM_194292	
SDAD1	55153	hgsc.bcm.edu;ucsc.edu	37	4	76898846	76898846	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr4:76898846delC	ENST00000356260.5	-	4	476	c.358delG	c.(358-360)gaafs	p.E120fs	SDAD1_ENST00000395711.4_Intron	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	120					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AAGAAGAGTTCTAGCAGGCTT	0.373																																																	0													98.0	98.0	98.0					4																	76898846		2203	4300	6503	SO:0001589	frameshift_variant	55153			AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.358delG	4.37:g.76898846delC	ENSP00000348596:p.Glu120fs		Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Frame_Shift_Del	DEL	ENST00000356260.5	37	CCDS3573.2																																																																																				0.373	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3		NM_018115	
SMARCC2	6601	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56567525	56567525	+	Silent	SNP	A	A	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr12:56567525A>G	ENST00000267064.4	-	17	1691	c.1605T>C	c.(1603-1605)gcT>gcC	p.A535A	SMARCC2_ENST00000347471.4_Silent_p.A535A|SMARCC2_ENST00000550164.1_Silent_p.A535A|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000394023.3_Silent_p.A535A	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	535					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.A535A(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			ATGGTGTGTCAGCCAAGACAT	0.567																																																	2	Substitution - coding silent(2)	kidney(2)											145.0	147.0	147.0					12																	56567525		2203	4300	6503	SO:0001819	synonymous_variant	6601			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1605T>C	12.37:g.56567525A>G			F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Silent	SNP	ENST00000267064.4	37	CCDS8907.1																																																																																				0.567	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			
SPP1	6696	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	88904007	88904007	+	Missense_Mutation	SNP	A	A	G	rs45452992		TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr4:88904007A>G	ENST00000395080.3	+	7	1031	c.904A>G	c.(904-906)Att>Gtt	p.I302V	SPP1_ENST00000360804.4_Missense_Mutation_p.I275V|SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000237623.7_Missense_Mutation_p.I288V	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	302					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)	p.I302V(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		GAAATTTCGTATTTCTCATGA	0.348																																																	1	Substitution - Missense(1)	kidney(1)											69.0	77.0	74.0					4																	88904007		2203	4300	6503	SO:0001583	missense	6696				CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"""Endogenous ligands"""	11255	protein-coding gene	gene with protein product	"""early T-lymphocyte activation 1"""	166490	"""osteopontin"", ""bone sialoprotein I"""	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.904A>G	4.37:g.88904007A>G	ENSP00000378517:p.Ile302Val		B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Missense_Mutation	SNP	ENST00000395080.3	37	CCDS43250.1	.	.	.	.	.	.	.	.	.	.	A	9.754	1.168243	0.21621	.	.	ENSG00000118785	ENST00000359072;ENST00000535912;ENST00000237623;ENST00000395080;ENST00000360804	T;T;T	0.31247	1.5;1.5;1.5	5.8	-10.5	0.00291	.	1.921710	0.02271	N	0.068438	T	0.12860	0.0312	N	0.04132	-0.27	0.09310	N	1	B;B;B;B;B	0.17465	0.001;0.003;0.003;0.022;0.003	B;B;B;B;B	0.15052	0.008;0.008;0.008;0.012;0.008	T	0.12630	-1.0540	10	0.27082	T	0.32	-0.401	11.5122	0.50500	0.3043:0.0:0.5932:0.1025	.	315;261;288;275;302	B7Z351;Q3LGB0;B2RDA1;Q567T5;P10451	.;.;.;.;OSTP_HUMAN	V	280;261;288;302;275	ENSP00000237623:I288V;ENSP00000378517:I302V;ENSP00000354042:I275V	ENSP00000237623:I288V	I	+	1	0	SPP1	89123031	0.000000	0.05858	0.000000	0.03702	0.373000	0.29922	-0.768000	0.04715	-1.505000	0.01807	-0.269000	0.10298	ATT		0.348	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253048.3			
STRN3	29966	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	31416465	31416465	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr14:31416465G>T	ENST00000357479.5	-	5	743	c.547C>A	c.(547-549)Ctt>Att	p.L183I	STRN3_ENST00000355683.5_Missense_Mutation_p.L183I	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	183	Calmodulin-binding. {ECO:0000255}.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L183I(2)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ACTTCCTGAAGATACCTGTAA	0.328																																																	2	Substitution - Missense(2)	kidney(2)											97.0	96.0	97.0					14																	31416465		2203	4299	6502	SO:0001583	missense	29966				CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.547C>A	14.37:g.31416465G>T	ENSP00000350071:p.Leu183Ile		A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	G	34	5.308376	0.95629	.	.	ENSG00000196792	ENST00000355683;ENST00000357479;ENST00000555152	D;D	0.85556	-2.0;-2.0	5.9	5.9	0.94986	Striatin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93090	0.7800	M	0.80982	2.52	0.80722	D	1	D;D	0.76494	0.974;0.999	P;D	0.80764	0.708;0.994	D	0.93116	0.6521	10	0.87932	D	0	-2.0104	20.2704	0.98474	0.0:0.0:1.0:0.0	.	183;183	Q13033-2;Q13033	.;STRN3_HUMAN	I	183;183;64	ENSP00000347909:L183I;ENSP00000350071:L183I	ENSP00000347909:L183I	L	-	1	0	STRN3	30486216	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.736000	0.98828	2.793000	0.96121	0.591000	0.81541	CTT		0.328	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1		NM_014574	
SVIL	6840	broad.mit.edu;ucsc.edu	37	10	29815982	29815982	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr10:29815982T>G	ENST00000355867.4	-	13	3002	c.2250A>C	c.(2248-2250)gaA>gaC	p.E750D	SVIL_ENST00000375398.2_Missense_Mutation_p.E750D|SVIL_ENST00000375400.3_Intron	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	750					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.E750D(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CGGGGATAGGTTCACTTTAAA	0.468																																																	1	Substitution - Missense(1)	kidney(1)											46.0	40.0	42.0					10																	29815982		2203	4300	6503	SO:0001583	missense	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.2250A>C	10.37:g.29815982T>G	ENSP00000348128:p.Glu750Asp		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.223455	0.39300	.	.	ENSG00000197321	ENST00000375398;ENST00000355867	T;T	0.11821	2.74;2.74	5.81	-0.838	0.10762	.	0.291770	0.38111	N	0.001819	T	0.12475	0.0303	M	0.69823	2.125	0.80722	D	1	B	0.14012	0.009	B	0.14578	0.011	T	0.10245	-1.0638	9	.	.	.	-16.4452	5.5653	0.17167	0.1281:0.3337:0.0:0.5382	.	750	O95425	SVIL_HUMAN	D	750	ENSP00000364547:E750D;ENSP00000348128:E750D	.	E	-	3	2	SVIL	29855988	1.000000	0.71417	0.990000	0.47175	0.980000	0.70556	1.253000	0.32886	-0.401000	0.07644	-0.290000	0.09829	GAA		0.468	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			
SYNE1	23345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	152665354	152665354	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr6:152665354C>A	ENST00000367255.5	-	74	12688	c.12087G>T	c.(12085-12087)caG>caT	p.Q4029H	SYNE1_ENST00000423061.1_Missense_Mutation_p.Q3958H|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q3894H|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q4029H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q3958H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4029					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.Q4029H(2)|p.Q3958H(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTCCAAACTCTGGTACATCT	0.453										HNSCC(10;0.0054)																																							3	Substitution - Missense(3)	kidney(3)											136.0	129.0	132.0					6																	152665354		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12087G>T	6.37:g.152665354C>A	ENSP00000356224:p.Gln4029His		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261664	0.39995	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.24	5.86	3.98	0.46160	.	0.245693	0.29830	N	0.011083	T	0.32102	0.0818	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.63046	0.984;0.984;0.984;0.992	P;P;P;P	0.59948	0.8;0.8;0.8;0.866	T	0.15435	-1.0437	10	0.45353	T	0.12	.	5.9907	0.19460	0.0:0.6302:0.1423:0.2276	.	4029;4029;4029;3958	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	H	4029;3958;4029;3958;3894	ENSP00000356224:Q4029H;ENSP00000396024:Q3958H;ENSP00000265368:Q4029H;ENSP00000390975:Q3958H;ENSP00000341887:Q3894H	ENSP00000265368:Q4029H	Q	-	3	2	SYNE1	152707047	1.000000	0.71417	0.998000	0.56505	0.658000	0.38924	3.134000	0.50538	0.830000	0.34757	-0.355000	0.07637	CAG		0.453	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961	
TAS1R2	80834	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	19180859	19180859	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr1:19180859C>T	ENST00000375371.3	-	3	1126	c.1105G>A	c.(1105-1107)Gcc>Acc	p.A369T	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	369					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.A369T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GACAAGGTGGCGTTCAGGCAG	0.622																																																	1	Substitution - Missense(1)	kidney(1)											127.0	113.0	118.0					1																	19180859		2203	4300	6503	SO:0001583	missense	80834				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1105G>A	1.37:g.19180859C>T	ENSP00000364520:p.Ala369Thr		Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	CCDS187.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.000666	0.00431	.	.	ENSG00000179002	ENST00000375371	D	0.88896	-2.44	4.58	-6.1	0.02138	Extracellular ligand-binding receptor (1);	1.625990	0.04010	N	0.298062	T	0.66896	0.2836	N	0.00926	-1.1	0.09310	N	1	B	0.15930	0.015	B	0.10450	0.005	T	0.62714	-0.6796	10	0.14252	T	0.57	.	9.1914	0.37202	0.1354:0.6073:0.0:0.2573	.	369	Q8TE23	TS1R2_HUMAN	T	369	ENSP00000364520:A369T	ENSP00000364520:A369T	A	-	1	0	TAS1R2	19053446	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.339000	0.02652	-1.132000	0.02907	-1.401000	0.01141	GCC		0.622	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			
TECTA	7007	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	120989265	120989265	+	Silent	SNP	G	G	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr11:120989265G>A	ENST00000392793.1	+	7	1312	c.1041G>A	c.(1039-1041)ttG>ttA	p.L347L	TECTA_ENST00000264037.2_Silent_p.L347L			O75443	TECTA_HUMAN	tectorin alpha	347	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.L347L(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GTGCCTACTTGCTGGCCCGAC	0.577																																																	1	Substitution - coding silent(1)	kidney(1)											140.0	124.0	129.0					11																	120989265		2203	4299	6502	SO:0001819	synonymous_variant	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1041G>A	11.37:g.120989265G>A				Silent	SNP	ENST00000392793.1	37	CCDS8434.1																																																																																				0.577	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1		NM_005422	
TEX2	55852	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	62291574	62291574	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr17:62291574T>A	ENST00000583097.1	-	2	176	c.4A>T	c.(4-6)Aca>Tca	p.T2S	TEX2_ENST00000584379.1_Missense_Mutation_p.T2S|TEX2_ENST00000258991.3_Missense_Mutation_p.T2S			Q8IWB9	TEX2_HUMAN	testis expressed 2	2					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)		p.T2S(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TACAGACTTGTCATTGCCGGC	0.527																																																	1	Substitution - Missense(1)	kidney(1)											98.0	86.0	90.0					17																	62291574		2203	4300	6503	SO:0001583	missense	55852			AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.4A>T	17.37:g.62291574T>A	ENSP00000462665:p.Thr2Ser		Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37		.	.	.	.	.	.	.	.	.	.	T	11.23	1.576929	0.28092	.	.	ENSG00000136478	ENST00000258991	T	0.54479	0.57	5.07	5.07	0.68467	.	0.067975	0.64402	D	0.000011	T	0.41949	0.1181	L	0.32530	0.975	0.53688	D	0.999977	P;P	0.40970	0.734;0.615	B;B	0.35470	0.203;0.1	T	0.49409	-0.8943	10	0.87932	D	0	-10.4777	14.8276	0.70125	0.0:0.0:0.0:1.0	.	2;2	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	S	2	ENSP00000258991:T2S	ENSP00000258991:T2S	T	-	1	0	TEX2	59645306	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	7.553000	0.82203	1.923000	0.55706	0.254000	0.18369	ACA		0.527	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1		NM_018469	
TFB2M	64216	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	246707837	246707837	+	Silent	SNP	T	T	C			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr1:246707837T>C	ENST00000366514.4	-	7	1190	c.1005A>G	c.(1003-1005)gtA>gtG	p.V335V		NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	335					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)|transcription cofactor activity (GO:0003712)	p.V335V(1)		breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			AGTGGTCTATTACAGTGGCGC	0.328																																																	1	Substitution - coding silent(1)	kidney(1)											89.0	95.0	93.0					1																	246707837		2203	4300	6503	SO:0001819	synonymous_variant	64216			AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851			18559	protein-coding gene	gene with protein product		607055					Standard	NM_022366		Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.1005A>G	1.37:g.246707837T>C			Q9H626	Silent	SNP	ENST00000366514.4	37	CCDS1627.1																																																																																				0.328	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096673.1		NM_022366	
TICAM1	148022	broad.mit.edu;hgsc.bcm.edu	37	19	4817479	4817479	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr19:4817479C>G	ENST00000248244.5	-	2	1140	c.911G>C	c.(910-912)tGc>tCc	p.C304S		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	304	Pro-rich.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.C304S(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCCCTCGGTGCACTCCACTGG	0.612																																																	1	Substitution - Missense(1)	kidney(1)											32.0	37.0	36.0					19																	4817479		2203	4300	6503	SO:0001583	missense	148022			AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.911G>C	19.37:g.4817479C>G	ENSP00000248244:p.Cys304Ser		B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	ENST00000248244.5	37	CCDS12136.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.935980	0.52972	.	.	ENSG00000127666	ENST00000248244	T	0.56611	0.45	4.2	3.16	0.36331	.	0.000000	0.37761	U	0.001947	T	0.65439	0.2691	M	0.67953	2.075	0.09310	N	1	D	0.71674	0.998	D	0.75484	0.986	T	0.54708	-0.8253	10	0.33141	T	0.24	-12.2304	9.6256	0.39748	0.0:0.8997:0.0:0.1003	.	304	Q8IUC6	TCAM1_HUMAN	S	304	ENSP00000248244:C304S	ENSP00000248244:C304S	C	-	2	0	TICAM1	4768479	0.004000	0.15560	0.056000	0.19401	0.199000	0.23934	1.782000	0.38654	0.886000	0.36113	0.297000	0.19635	TGC		0.612	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1		NM_014261	
TMEM55A	55529	hgsc.bcm.edu;ucsc.edu	37	8	92008894	92008894	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr8:92008894delT	ENST00000285419.3	-	6	932	c.618delA	c.(616-618)ggafs	p.G206fs		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	206						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.M200_G206delMICIFIG(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			TTAACCCAACTCCAATGAAAA	0.418																																																	1	Deletion - In frame(1)	breast(1)											92.0	81.0	84.0					8																	92008894		2203	4300	6503	SO:0001589	frameshift_variant	55529			BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.618delA	8.37:g.92008894delT	ENSP00000285419:p.Gly206fs		B2R9H4|Q68CU2	Frame_Shift_Del	DEL	ENST00000285419.3	37	CCDS6252.1																																																																																				0.418	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376778.1		NM_018710	
TMOD1	7111	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	100331319	100331319	+	Splice_Site	SNP	G	G	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr9:100331319G>T	ENST00000259365.4	+	8	1083	c.870G>T	c.(868-870)caG>caT	p.Q290H	TMOD1_ENST00000375175.1_Splice_Site_p.Q163H|TMOD1_ENST00000395211.2_Splice_Site_p.Q290H	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	290					adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)		p.Q290H(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TTGACAACCAGGTGAGATGGG	0.502																																																	1	Substitution - Missense(1)	kidney(1)											92.0	85.0	88.0					9																	100331319		2203	4300	6503	SO:0001630	splice_region_variant	7111				CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.870+1G>T	9.37:g.100331319G>T			B2RB77|Q5T7W3|Q9BUF1	Missense_Mutation	SNP	ENST00000259365.4	37	CCDS6726.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802965	0.90623	.	.	ENSG00000136842	ENST00000395211;ENST00000259365;ENST00000375175	D;D;D	0.92858	-3.12;-3.12;-3.12	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000001	D	0.96911	0.8991	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97735	1.0205	10	0.87932	D	0	-20.4065	17.5225	0.87791	0.0:0.0:1.0:0.0	.	290	P28289	TMOD1_HUMAN	H	290;290;163	ENSP00000378637:Q290H;ENSP00000259365:Q290H;ENSP00000364318:Q163H	ENSP00000259365:Q290H	Q	+	3	2	TMOD1	99371140	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.349000	0.97066	2.526000	0.85167	0.563000	0.77884	CAG		0.502	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053320.2		NM_003275	Missense_Mutation
TRAFD1	10906	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	112586091	112586091	+	Missense_Mutation	SNP	G	G	A	rs142954248	byFrequency	TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr12:112586091G>A	ENST00000257604.5	+	8	1758	c.1141G>A	c.(1141-1143)Gtg>Atg	p.V381M	Y_RNA_ENST00000363265.1_RNA|TRAFD1_ENST00000412615.2_Missense_Mutation_p.V381M	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	381					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)	p.V381M(1)		kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						GGAAGAGGAGGTGCTGTTCCA	0.522																																																	1	Substitution - Missense(1)	kidney(1)											121.0	109.0	113.0					12																	112586091		2203	4300	6503	SO:0001583	missense	10906			AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.1141G>A	12.37:g.112586091G>A	ENSP00000257604:p.Val381Met		A8K5L6|B4DI89	Missense_Mutation	SNP	ENST00000257604.5	37	CCDS9160.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053489	0.75960	.	.	ENSG00000135148	ENST00000412615;ENST00000257604	T;T	0.39997	1.05;1.05	5.95	5.06	0.68205	.	0.287831	0.29791	N	0.011199	T	0.60573	0.2279	M	0.76002	2.32	0.46749	D	0.999183	D	0.89917	1.0	D	0.74023	0.982	T	0.61773	-0.6994	10	0.59425	D	0.04	-22.9631	9.4679	0.38824	0.1587:0.0:0.8413:0.0	.	381	O14545	TRAD1_HUMAN	M	381	ENSP00000396526:V381M;ENSP00000257604:V381M	ENSP00000257604:V381M	V	+	1	0	TRAFD1	111070474	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	2.942000	0.49018	2.824000	0.97209	0.655000	0.94253	GTG		0.522	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1		NM_006700	
TRIM37	4591	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	57079057	57079057	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr17:57079057T>G	ENST00000262294.7	-	23	2973	c.2714A>C	c.(2713-2715)gAc>gCc	p.D905A	TRIM37_ENST00000393066.3_Missense_Mutation_p.D905A|TRIM37_ENST00000393065.2_Missense_Mutation_p.D871A|TRIM37_ENST00000376149.3_Intron	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	905					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D905A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ACATTCAATGTCACTGTCGCT	0.473									Mulibrey Nanism																																								1	Substitution - Missense(1)	kidney(1)											142.0	106.0	118.0					17																	57079057		2203	4300	6503	SO:0001583	missense	4591	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.2714A>C	17.37:g.57079057T>G	ENSP00000262294:p.Asp905Ala		Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.504261	0.85176	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000393065	T;T;T	0.44083	1.33;1.33;0.93	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.53997	0.1831	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	T	0.58222	-0.7674	10	0.87932	D	0	-19.3575	15.882	0.79211	0.0:0.0:0.0:1.0	.	871;905	F8WEE6;O94972	.;TRI37_HUMAN	A	905;905;871	ENSP00000376785:D905A;ENSP00000262294:D905A;ENSP00000376784:D871A	ENSP00000262294:D905A	D	-	2	0	TRIM37	54433839	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.052000	0.71080	2.155000	0.67459	0.533000	0.62120	GAC		0.473	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1		NM_015294	
TTN	7273	broad.mit.edu;ucsc.edu	37	2	179435409	179435409	+	Silent	SNP	C	C	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr2:179435409C>T	ENST00000591111.1	-	276	70751	c.70527G>A	c.(70525-70527)caG>caA	p.Q23509Q	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.Q25150Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.Q22582Q|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.Q16210Q|TTN_ENST00000460472.2_Silent_p.Q16085Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.Q16277Q			Q8WZ42	TITIN_HUMAN	titin	23509	Ig-like 119.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Q16210Q(1)|p.Q22582Q(1)|p.Q22580Q(1)|p.Q16085Q(1)|p.Q16277Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGAAAGCTCCTGATCACCTT	0.413																																																	5	Substitution - coding silent(5)	kidney(5)											207.0	187.0	193.0					2																	179435409		1922	4116	6038	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.70527G>A	2.37:g.179435409C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
TUBB2B	347733	broad.mit.edu	37	6	3225818	3225818	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr6:3225818C>T	ENST00000259818.7	-	4	696	c.505G>A	c.(505-507)Gtc>Atc	p.V169I	TUBB2B_ENST00000473006.1_5'UTR	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	169					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|neuron migration (GO:0001764)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.V169I(1)		kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GAGGGCATGACGCTGAAGGTG	0.607																																																	1	Substitution - Missense(1)	kidney(1)											23.0	25.0	24.0					6																	3225818		1905	3828	5733	SO:0001583	missense	347733			BC001352	CCDS4485.1	6p25.2	2011-10-10	2011-10-10		ENSG00000137285	ENSG00000137285		"""Tubulins"""	30829	protein-coding gene	gene with protein product	"""class IIb beta-tubulin"""	612850	"""tubulin, beta 2B"""			8619474, 9110174	Standard	NM_178012		Approved	MGC8685, DKFZp566F223, bA506K6.1	uc003mvg.3	Q9BVA1	OTTHUMG00000014143	ENST00000259818.7:c.505G>A	6.37:g.3225818C>T	ENSP00000259818:p.Val169Ile		A8K068	Missense_Mutation	SNP	ENST00000259818.7	37	CCDS4485.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396816	0.42512	.	.	ENSG00000137285	ENST00000259818	T	0.71103	-0.54	5.21	5.21	0.72293	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	D	0.000020	T	0.56978	0.2022	L	0.41710	1.295	0.80722	D	1	B;B;B	0.15473	0.013;0.013;0.007	B;B;B	0.26864	0.055;0.055;0.074	T	0.59873	-0.7372	10	0.87932	D	0	.	18.7626	0.91858	0.0:1.0:0.0:0.0	.	169;169;169	Q8IZ29;Q8IWP6;Q9BVA1	.;.;TBB2B_HUMAN	I	169	ENSP00000259818:V169I	ENSP00000259818:V169I	V	-	1	0	TUBB2B	3170817	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.651000	0.83577	2.420000	0.82092	0.514000	0.50259	GTC		0.607	TUBB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039680.2		NM_178012	
UAP1L1	91373	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	139973455	139973455	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr9:139973455T>C	ENST00000409858.3	+	4	730	c.698T>C	c.(697-699)cTg>cCg	p.L233P	UAP1L1_ENST00000360271.3_Missense_Mutation_p.L110P|UAP1L1_ENST00000476184.1_3'UTR	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	233							uridylyltransferase activity (GO:0070569)	p.L233P(1)|p.L110P(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		TACTGCGCGCTGGAGGACCAC	0.647																																																	2	Substitution - Missense(2)	kidney(2)											84.0	85.0	85.0					9																	139973455		2203	4300	6503	SO:0001583	missense	91373			AK022632	CCDS7028.2	9q34.3	2014-07-31	2014-07-31		ENSG00000197355	ENSG00000197355			28082	protein-coding gene	gene with protein product							Standard	NM_207309		Approved		uc010ncb.3	Q3KQV9	OTTHUMG00000020962	ENST00000409858.3:c.698T>C	9.37:g.139973455T>C	ENSP00000386935:p.Leu233Pro		A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Missense_Mutation	SNP	ENST00000409858.3	37	CCDS7028.2	.	.	.	.	.	.	.	.	.	.	T	16.51	3.142849	0.57044	.	.	ENSG00000197355	ENST00000409858;ENST00000360271	T;T	0.46063	0.88;0.88	4.86	4.86	0.63082	.	0.075264	0.53938	D	0.000049	T	0.73923	0.3649	H	0.96430	3.82	0.80722	D	1	D;P	0.60160	0.987;0.898	D;B	0.70227	0.968;0.397	T	0.82900	-0.0228	10	0.87932	D	0	.	13.6321	0.62202	0.0:0.0:0.0:1.0	.	233;110	Q3KQV9;Q3KQV9-2	UAP1L_HUMAN;.	P	233;110	ENSP00000386935:L233P;ENSP00000353409:L110P	ENSP00000353409:L110P	L	+	2	0	UAP1L1	139093276	1.000000	0.71417	0.079000	0.20413	0.141000	0.21300	6.091000	0.71406	1.832000	0.53329	0.459000	0.35465	CTG		0.647	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055216.2		XM_038063	
Unknown	0	broad.mit.edu	37	16	31973467	31973467	+	IGR	SNP	T	T	A	rs62054098		TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr16:31973467T>A								ZNF267 (44799 upstream) : RP11-1166P10.1 (19723 downstream)														p.L20H(1)									TCCCTGAGACTCTCCTGTGCA	0.577																																																	1	Substitution - Missense(1)	kidney(1)																																								SO:0001628	intergenic_variant	0																															16.37:g.31973467T>A				RNA	SNP		37		.	.	.	.	.	.	.	.	.	.	.	14.08	2.427998	0.43122	.	.	ENSG00000197476	ENST00000356559	.	.	.	0.912	0.912	0.19349	.	0.000000	0.64402	U	0.000003	T	0.47838	0.1467	.	.	.	.	.	.	.	.	.	.	.	.	T	0.58808	-0.7571	5	0.87932	D	0	.	6.1559	0.20338	0.0:0.0:0.0:1.0	.	.	.	.	H	20	.	ENSP00000348964:L20H	L	+	2	0	AC034105.1	31880968	1.000000	0.71417	0.448000	0.26945	0.808000	0.45660	4.856000	0.62932	0.722000	0.32252	0.368000	0.22195	CTC	0	0.577									
USP45	85015	hgsc.bcm.edu;ucsc.edu	37	6	99912577	99912577	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr6:99912577delA	ENST00000327681.6	-	13	1743	c.1211delT	c.(1210-1212)ttafs	p.L404fs	USP45_ENST00000500704.2_Frame_Shift_Del_p.L404fs|USP45_ENST00000539675.1_5'Flank|USP45_ENST00000392738.2_Frame_Shift_Del_p.L84fs|USP45_ENST00000369233.2_Intron	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	404	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TGTCTCCCGTAAACTTCTATA	0.338																																																	0													97.0	95.0	96.0					6																	99912577		2203	4300	6503	SO:0001589	frameshift_variant	85015			AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.1211delT	6.37:g.99912577delA	ENSP00000333376:p.Leu404fs		B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Frame_Shift_Del	DEL	ENST00000327681.6	37	CCDS34501.1																																																																																				0.338	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2		NM_032929	
ZNF207	7756	broad.mit.edu;ucsc.edu	37	17	30694855	30694855	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr17:30694855C>A	ENST00000321233.6	+	9	1092	c.938C>A	c.(937-939)aCa>aAa	p.T313K	ZNF207_ENST00000394673.2_Missense_Mutation_p.T298K|ZNF207_ENST00000394670.4_Missense_Mutation_p.T329K|ZNF207_ENST00000341711.6_Missense_Mutation_p.T230K|ZNF207_ENST00000342555.6_Missense_Mutation_p.T332K|ZNF207_ENST00000577908.1_Missense_Mutation_p.T329K	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	313					attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.T313K(1)		breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			ACCCCTGCAACAACTACAGAA	0.428																																																	1	Substitution - Missense(1)	kidney(1)											130.0	120.0	123.0					17																	30694855		2203	4300	6503	SO:0001583	missense	7756			AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"""Zinc fingers, C2H2-type"""	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.938C>A	17.37:g.30694855C>A	ENSP00000322777:p.Thr313Lys		A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	ENST00000321233.6	37	CCDS11271.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842137	0.91197	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000341711;ENST00000342555	T;T	0.44881	0.92;0.91	6.03	5.07	0.68467	.	0.091785	0.85682	D	0.000000	T	0.52451	0.1735	L	0.46157	1.445	0.49483	D	0.999797	B;B;B;B;D	0.67145	0.144;0.144;0.144;0.144;0.996	B;B;B;B;D	0.77557	0.035;0.035;0.035;0.035;0.99	T	0.49495	-0.8934	10	0.05959	T	0.93	.	15.1776	0.72927	0.0:0.9329:0.0:0.0671	.	282;332;329;298;313	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	K	329;282;332;298;230;313	ENSP00000378165:T329K;ENSP00000344913:T230K	ENSP00000322777:T298K	T	+	2	0	ZNF207	27718968	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.074000	0.71253	1.570000	0.49709	0.557000	0.71058	ACA		0.428	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			
ZNF90	7643	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	20229513	20229513	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr19:20229513C>G	ENST00000418063.2	+	4	1262	c.1150C>G	c.(1150-1152)Ctt>Gtt	p.L384V	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	384					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L384V(1)		breast(1)|lung(2)|ovary(1)|skin(1)	5						ATCCTCACTCCTTTATAAACA	0.383																																																	1	Substitution - Missense(1)	kidney(1)											50.0	48.0	49.0					19																	20229513		692	1591	2283	SO:0001583	missense	7643			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.1150C>G	19.37:g.20229513C>G	ENSP00000410466:p.Leu384Val		B9EH87	Missense_Mutation	SNP	ENST00000418063.2	37	CCDS46028.1	.	.	.	.	.	.	.	.	.	.	C	9.671	1.146735	0.21288	.	.	ENSG00000213988	ENST00000418063	T	0.52983	0.64	1.18	-0.334	0.12666	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42086	0.1187	M	0.79693	2.465	0.09310	N	1	P	0.47484	0.896	B	0.37239	0.244	T	0.39643	-0.9604	8	.	.	.	.	5.4887	0.16763	0.0:0.7579:0.0:0.2421	.	384	Q03938	ZNF90_HUMAN	V	384	ENSP00000410466:L384V	.	L	+	1	0	ZNF90	20090513	0.055000	0.20627	0.003000	0.11579	0.003000	0.03518	0.601000	0.24119	0.293000	0.22520	0.298000	0.19748	CTT		0.383	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350101.1		NM_007138	
ZNF606	80095	hgsc.bcm.edu;ucsc.edu	37	19	58490239	58490239	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr19:58490239delT	ENST00000341164.4	-	7	2429	c.1809delA	c.(1807-1809)aaafs	p.K603fs	ZNF606_ENST00000536132.1_Frame_Shift_Del_p.K513fs	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	603					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CTCTGAATGCTTTGCCACATT	0.428																																																	0													98.0	96.0	97.0					19																	58490239		2203	4300	6503	SO:0001589	frameshift_variant	80095			AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1809delA	19.37:g.58490239delT	ENSP00000343617:p.Lys603fs		A8KAN2|Q8NE04|Q96JH5	Frame_Shift_Del	DEL	ENST00000341164.4	37	CCDS12968.1																																																																																				0.428	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1		NM_025027	
ZNF584	201514	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	58928399	58928399	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5701-01A-11D-1534-10	TCGA-B0-5701-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e1c563a-ee60-478b-9286-ed90e7561892	f5d8d96d-f597-46fe-8cd1-b097620ed8b7	g.chr19:58928399T>G	ENST00000306910.4	+	4	1037	c.514T>G	c.(514-516)Ttt>Gtt	p.F172V	ZNF584_ENST00000593920.1_Missense_Mutation_p.F127V|ZNF584_ENST00000599238.1_3'UTR|ZNF584_ENST00000322834.7_3'UTR|CTD-2619J13.16_ENST00000596296.1_lincRNA|ZNF584_ENST00000596921.1_3'UTR	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F172V(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		CTTAAAGGCCTTTGCCCTCCT	0.498																																																	1	Substitution - Missense(1)	kidney(1)											110.0	88.0	96.0					19																	58928399		2203	4300	6503	SO:0001583	missense	201514			AK097218	CCDS12979.1	19q13.43	2013-01-08			ENSG00000171574	ENSG00000171574		"""Zinc fingers, C2H2-type"", ""-"""	27318	protein-coding gene	gene with protein product							Standard	NM_173548		Approved	FLJ39899	uc002qsp.3	Q8IVC4		ENST00000306910.4:c.514T>G	19.37:g.58928399T>G	ENSP00000306756:p.Phe172Val		A8K203	Missense_Mutation	SNP	ENST00000306910.4	37	CCDS12979.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.809060	0.31961	.	.	ENSG00000171574	ENST00000306910;ENST00000354635	T	0.50277	0.75	4.2	3.12	0.35913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42810	0.1219	N	0.10664	0.02	0.09310	N	1	D	0.63046	0.992	D	0.65233	0.933	T	0.17107	-1.0380	9	0.66056	D	0.02	.	7.0332	0.24979	0.3343:0.0:0.0:0.6657	.	172	Q8IVC4	ZN584_HUMAN	V	172;31	ENSP00000306756:F172V	ENSP00000306756:F172V	F	+	1	0	ZNF584	63620211	0.002000	0.14202	0.304000	0.25085	0.145000	0.21501	0.707000	0.25704	1.778000	0.52293	0.459000	0.35465	TTT		0.498	ZNF584-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467022.1		NM_173548	
