#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
ABTB1	80325	broad.mit.edu;hgsc.bcm.edu	37	3	127399686	127399686	+	3'UTR	SNP	T	T	C			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr3:127399686T>C	ENST00000232744.8	+	0	1891				ABTB1_ENST00000468137.1_3'UTR|ABTB1_ENST00000453791.2_3'UTR|ABTB1_ENST00000393363.3_3'UTR					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						TTCTCTAAGCTGGTGTTCCCA	0.567																																																	0													12.0	12.0	12.0					3																	127399686		876	1991	2867	SO:0001624	3_prime_UTR_variant	80325			AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.*368T>C	3.37:g.127399686T>C				RNA	SNP	ENST00000232744.8	37	CCDS3045.1																																																																																				0.567	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1		NM_172027	
ALOXE3	59344	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	8020117	8020117	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr17:8020117G>A	ENST00000448843.2	-	3	669	c.329C>T	c.(328-330)aCc>aTc	p.T110I	ALOXE3_ENST00000318227.3_Missense_Mutation_p.T242I|ALOXE3_ENST00000380149.1_Missense_Mutation_p.T266I	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	110	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.T242I(1)|p.T110I(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CAGCTCCACGGTGCAGTAGCC	0.562																																																	2	Substitution - Missense(2)	kidney(2)											136.0	101.0	113.0					17																	8020117		2203	4300	6503	SO:0001583	missense	59344			AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.329C>T	17.37:g.8020117G>A	ENSP00000400581:p.Thr110Ile		B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	ENST00000448843.2	37	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054053	0.36277	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	T;T;T	0.23950	1.88;1.88;1.88	5.26	3.12	0.35913	Lipoxygenase, C-terminal (1);Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.474372	0.25906	N	0.027537	T	0.26846	0.0657	L	0.48174	1.505	0.28199	N	0.927436	B;P;P	0.46859	0.135;0.885;0.885	B;P;P	0.48089	0.055;0.566;0.566	T	0.05273	-1.0895	10	0.28530	T	0.3	-20.5934	9.6733	0.40026	0.0799:0.1423:0.7778:0.0	.	242;110;110	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	I	266;242;110	ENSP00000369494:T266I;ENSP00000314879:T242I;ENSP00000400581:T110I	ENSP00000314879:T242I	T	-	2	0	ALOXE3	7960842	0.999000	0.42202	0.859000	0.33776	0.090000	0.18270	2.951000	0.49089	1.342000	0.45619	0.555000	0.69702	ACC		0.562	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1			
AP3S1	1176	broad.mit.edu	37	5	115177762	115177762	+	Missense_Mutation	SNP	A	A	C			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr5:115177762A>C	ENST00000316788.7	+	1	585	c.28A>C	c.(28-30)Aac>Cac	p.N10H	ATG12_ENST00000509598.1_5'Flank|ATG12_ENST00000509910.1_5'Flank|ATG12_ENST00000274459.4_5'Flank|ATG12_ENST00000500945.2_5'Flank	NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	10					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.N10H(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		AATCTTCAACAACCACGGGAA	0.692																																																	1	Substitution - Missense(1)	kidney(1)											14.0	15.0	15.0					5																	115177762		2202	4299	6501	SO:0001583	missense	1176			D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.28A>C	5.37:g.115177762A>C	ENSP00000325369:p.Asn10His		O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Missense_Mutation	SNP	ENST00000316788.7	37	CCDS4123.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.158534	0.78114	.	.	ENSG00000177879	ENST00000316788	T	0.48201	0.82	5.25	5.25	0.73442	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	T	0.63022	0.2476	M	0.85299	2.745	0.45183	D	0.998197	P;P	0.41102	0.738;0.738	P;P	0.48141	0.568;0.568	T	0.69529	-0.5121	10	0.66056	D	0.02	.	14.4282	0.67230	1.0:0.0:0.0:0.0	.	10;10	B2R4I8;Q92572	.;AP3S1_HUMAN	H	10	ENSP00000325369:N10H	ENSP00000325369:N10H	N	+	1	0	AP3S1	115205661	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.650000	0.74368	2.115000	0.64714	0.533000	0.62120	AAC		0.692	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250847.2			
APOBEC3B	9582	broad.mit.edu	37	22	39387382	39387382	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr22:39387382C>T	ENST00000333467.3	+	6	814	c.769C>T	c.(769-771)Cgc>Tgc	p.R257C	APOBEC3B-AS1_ENST00000513758.2_RNA|APOBEC3B_ENST00000402182.3_Missense_Mutation_p.R257C|APOBEC3B_ENST00000407298.3_Intron	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	257	CMP/dCMP deaminase zinc-binding 2.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R257C(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					TGCGGAGCTGCGCTTCTTGGA	0.567																																																	1	Substitution - Missense(1)	kidney(1)											23.0	26.0	25.0					22																	39387382		2163	4207	6370	SO:0001583	missense	9582			AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"""Apolipoprotein B mRNA editing enzymes"""	17352	protein-coding gene	gene with protein product	"""phorbolin 3"""	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.769C>T	22.37:g.39387382C>T	ENSP00000327459:p.Arg257Cys		B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Missense_Mutation	SNP	ENST00000333467.3	37	CCDS13982.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.478920	0.00165	.	.	ENSG00000179750	ENST00000402182;ENST00000333467	T;T	0.65732	-0.17;-0.17	2.0	-3.99	0.04069	APOBEC-like, N-terminal (1);APOBEC/CMP deaminase, zinc-binding (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.23249	0.0562	N	0.01209	-0.955	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23904	-1.0175	9	0.02654	T	1	.	7.4587	0.27283	0.1637:0.6351:0.0:0.2012	.	257	Q9UH17	ABC3B_HUMAN	C	257	ENSP00000385060:R257C;ENSP00000327459:R257C	ENSP00000327459:R257C	R	+	1	0	APOBEC3B	37717328	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.296000	0.08287	-1.745000	0.01337	-0.628000	0.03992	CGC		0.567	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1		NM_004900	
ARG2	384	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	68086727	68086727	+	Silent	SNP	C	C	G			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr14:68086727C>G	ENST00000261783.3	+	1	213	c.33C>G	c.(31-33)ctC>ctG	p.L11L	Y_RNA_ENST00000364659.1_RNA|ARG2_ENST00000556491.1_3'UTR	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	11					arginine metabolic process (GO:0006525)|cellular nitrogen compound metabolic process (GO:0034641)|nitric oxide biosynthetic process (GO:0006809)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)|urea cycle (GO:0000050)|ureteric bud development (GO:0001657)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	arginase activity (GO:0004053)|metal ion binding (GO:0046872)	p.L11L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	CGCGTCTCCTCCAGACGCGAG	0.617																																																	1	Substitution - coding silent(1)	kidney(1)											28.0	29.0	29.0					14																	68086727		2200	4295	6495	SO:0001819	synonymous_variant	384			D86724	CCDS9785.1	14q24.1	2013-05-01	2013-05-01			ENSG00000081181			664	protein-coding gene	gene with protein product		107830	"""arginase, type II"""			8954792, 8898077	Standard	NM_001172		Approved		uc001xjs.3	P78540		ENST00000261783.3:c.33C>G	14.37:g.68086727C>G			B2R690|Q6FHY8	Silent	SNP	ENST00000261783.3	37	CCDS9785.1																																																																																				0.617	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415190.2		NM_001172	
ARHGAP28	79822	broad.mit.edu;hgsc.bcm.edu	37	18	6873513	6873513	+	Missense_Mutation	SNP	T	T	G			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr18:6873513T>G	ENST00000383472.4	+	8	1164	c.1060T>G	c.(1060-1062)Ttt>Gtt	p.F354V	ARHGAP28_ENST00000419673.2_Missense_Mutation_p.F195V|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.F177V|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.F354V|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.F195V|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.F302V|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.F195V|RP11-146G7.2_ENST00000583659.1_RNA|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.F190V			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	354					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				ATTGACTGCCTTTTTTGATGC	0.388																																																	0													142.0	144.0	143.0					18																	6873513		2203	4300	6503	SO:0001583	missense	79822			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1060T>G	18.37:g.6873513T>G	ENSP00000372964:p.Phe354Val		A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37		.	.	.	.	.	.	.	.	.	.	T	23.2	4.391831	0.83011	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.08546	3.27;3.22;3.17;3.16;3.17;3.08	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.24774	0.0601	L	0.54323	1.7	0.58432	D	0.99999	D;P;P;P	0.89917	1.0;0.609;0.537;0.537	D;B;B;B	0.87578	0.998;0.341;0.437;0.343	T	0.00385	-1.1773	10	0.51188	T	0.08	.	15.4627	0.75373	0.0:0.0:0.0:1.0	.	354;186;195;302	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	V	354;302;195;190;195;195;186;177	ENSP00000382963:F354V;ENSP00000262227:F302V;ENSP00000392660:F195V;ENSP00000437262:F190V;ENSP00000313506:F195V;ENSP00000406907:F195V	ENSP00000262227:F302V	F	+	1	0	ARHGAP28	6863513	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.789000	0.69029	2.113000	0.64589	0.528000	0.53228	TTT		0.388	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3		XM_371108	
ATXN1	6310	broad.mit.edu;ucsc.edu	37	6	16327452	16327452	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr6:16327452G>C	ENST00000244769.4	-	8	2026	c.1090C>G	c.(1090-1092)Cac>Gac	p.H364D	ATXN1_ENST00000436367.1_Missense_Mutation_p.H364D	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	364					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GGGCTCGGGTGGACCACCACG	0.687																																																	0													81.0	91.0	88.0					6																	16327452		2203	4300	6503	SO:0001583	missense	6310			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.1090C>G	6.37:g.16327452G>C	ENSP00000244769:p.His364Asp		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457063	0.63401	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	D;D	0.82711	-1.64;-1.64	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.84147	0.5408	L	0.34521	1.04	0.43965	D	0.996643	D	0.63880	0.993	D	0.72338	0.977	D	0.86398	0.1740	10	0.59425	D	0.04	-21.9414	17.7777	0.88514	0.0:0.0:1.0:0.0	.	364	P54253	ATX1_HUMAN	D	364	ENSP00000244769:H364D;ENSP00000416360:H364D	ENSP00000244769:H364D	H	-	1	0	ATXN1	16435431	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	7.347000	0.79356	2.184000	0.69523	0.561000	0.74099	CAC		0.687	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3		NM_000332	
B3GNT7	93010	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	232263303	232263303	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr2:232263303G>C	ENST00000287590.5	+	2	1134	c.873G>C	c.(871-873)aaG>aaC	p.K291N		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	291					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)	p.K291N(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		TGTACGGCAAGGCCAGCTATC	0.647																																																	1	Substitution - Missense(1)	kidney(1)											26.0	32.0	30.0					2																	232263303		1973	4134	6107	SO:0001583	missense	93010			AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"""Beta 3-glycosyltransferases"""	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.873G>C	2.37:g.232263303G>C	ENSP00000287590:p.Lys291Asn		B3KWY4|B7WNP0	Missense_Mutation	SNP	ENST00000287590.5	37	CCDS46540.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851606	0.32699	.	.	ENSG00000156966	ENST00000287590	T	0.42131	0.98	5.05	5.05	0.67936	.	0.194734	0.53938	D	0.000054	T	0.46444	0.1393	L	0.40543	1.245	0.58432	D	0.999997	D	0.57571	0.98	P	0.62813	0.907	T	0.32771	-0.9894	10	0.22109	T	0.4	.	7.397	0.26942	0.1874:0.0:0.8126:0.0	.	291	Q8NFL0	B3GN7_HUMAN	N	291	ENSP00000287590:K291N	ENSP00000287590:K291N	K	+	3	2	B3GNT7	231971547	0.998000	0.40836	0.830000	0.32933	0.177000	0.22998	2.541000	0.45735	2.355000	0.79922	0.561000	0.74099	AAG		0.647	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332827.1		NM_145236	
BTBD11	121551	hgsc.bcm.edu;ucsc.edu	37	12	107713815	107713815	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr12:107713815delG	ENST00000280758.5	+	1	1626	c.1098delG	c.(1096-1098)cagfs	p.Q366fs	BTBD11_ENST00000490090.2_Frame_Shift_Del_p.Q366fs|BTBD11_ENST00000420571.2_Frame_Shift_Del_p.Q366fs	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	366						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GTCTCCTGCAGCCCTACCAGC	0.617																																																	0													30.0	34.0	33.0					12																	107713815		1984	3967	5951	SO:0001589	frameshift_variant	121551			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1098delG	12.37:g.107713815delG	ENSP00000280758:p.Gln366fs		A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Frame_Shift_Del	DEL	ENST00000280758.5	37	CCDS31893.1																																																																																				0.617	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1		NM_152322	
C19orf33	64073	hgsc.bcm.edu	37	19	38795587	38795587	+	Missense_Mutation	SNP	A	A	G	rs76762399		TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr19:38795587A>G	ENST00000301246.5	+	4	405	c.304A>G	c.(304-306)Aag>Gag	p.K102E	C19orf33_ENST00000588605.1_3'UTR	NM_033520.1	NP_277055.1	Q9GZP8	IMUP_HUMAN	chromosome 19 open reading frame 33	102						nucleus (GO:0005634)						all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			gggcaagaagaaggagGCTCC	0.602																																																	0													80.0	84.0	82.0					19																	38795587		2198	4298	6496	SO:0001583	missense	64073			AF213678	CCDS12511.1	19q13.2	2012-10-26			ENSG00000167644	ENSG00000167644			16668	protein-coding gene	gene with protein product	"""immortalization-upregulated protein"", ""HAI-2 related small protein"", ""hepatocyte growth factor activator inhibitor type 2-related small protein"""					11080599	Standard	NM_033520		Approved	IMUP-1, IMUP-2, H2RSP, IMUP	uc002ohu.1	Q9GZP8	OTTHUMG00000181894	ENST00000301246.5:c.304A>G	19.37:g.38795587A>G	ENSP00000301246:p.Lys102Glu		Q0P6G2|Q96H58|Q9HCR4	Missense_Mutation	SNP	ENST00000301246.5	37	CCDS12511.1	.	.	.	.	.	.	.	.	.	.	A	10.57	1.386721	0.25031	.	.	ENSG00000167644	ENST00000301246	.	.	.	4.65	1.27	0.21489	.	0.631638	0.14080	N	0.342742	T	0.26991	0.0661	L	0.32530	0.975	0.22710	N	0.99883	P	0.35507	0.506	B	0.37780	0.258	T	0.17531	-1.0366	9	0.87932	D	0	-18.943	6.8244	0.23874	0.7117:0.0:0.2883:0.0	.	102	Q9GZP8	IMUP_HUMAN	E	102	.	ENSP00000301246:K102E	K	+	1	0	C19orf33	43487427	0.981000	0.34729	0.010000	0.14722	0.004000	0.04260	1.231000	0.32624	0.282000	0.22254	0.459000	0.35465	AAG		0.602	C19orf33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458168.1		NM_033520	
TRMT1L	81627	hgsc.bcm.edu;ucsc.edu	37	1	185094228	185094228	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr1:185094228delA	ENST00000367506.5	-	12	1875	c.1607delT	c.(1606-1608)ttcfs	p.F536fs	TRMT1L_ENST00000367504.3_3'UTR	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	536	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						TCCAGTATTGAAAAGGGAACT	0.318																																																	0													64.0	65.0	65.0					1																	185094228		2203	4300	6503	SO:0001589	frameshift_variant	0			AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"""TRM1-like"""	611673	"""chromosome 1 open reading frame 25"", ""TRM1 tRNA methyltransferase 1-like"""	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.1607delT	1.37:g.185094228delA	ENSP00000356476:p.Phe536fs		Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Frame_Shift_Del	DEL	ENST00000367506.5	37	CCDS1366.1																																																																																				0.318	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1		NM_030934	
C22orf42	150297	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	32555106	32555106	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr22:32555106G>A	ENST00000382097.3	-	1	169	c.97C>T	c.(97-99)Cct>Tct	p.P33S	RP1-90G24.8_ENST00000426354.1_lincRNA	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	33								p.P33S(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						ACAGTCTCAGGAATCTCACAC	0.577																																																	1	Substitution - Missense(1)	kidney(1)											100.0	88.0	92.0					22																	32555106		2203	4300	6503	SO:0001583	missense	150297			BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.97C>T	22.37:g.32555106G>A	ENSP00000371529:p.Pro33Ser		A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	37	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.767642	0.00645	.	.	ENSG00000205856	ENST00000382097	T	0.24151	1.87	0.131	-0.261	0.12963	.	.	.	.	.	T	0.08537	0.0212	N	0.08118	0	0.09310	N	1	P	0.39424	0.673	B	0.34991	0.193	T	0.17501	-1.0367	8	0.17832	T	0.49	.	.	.	.	.	33	Q6IC83	CV042_HUMAN	S	33	ENSP00000371529:P33S	ENSP00000371529:P33S	P	-	1	0	C22orf42	30885106	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.433000	0.01021	-1.335000	0.02241	-1.316000	0.01300	CCT		0.577	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2		NM_001010859	
C22orf42	150297	broad.mit.edu;hgsc.bcm.edu	37	22	32555121	32555121	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr22:32555121G>A	ENST00000382097.3	-	1	154	c.82C>T	c.(82-84)Cat>Tat	p.H28Y	RP1-90G24.8_ENST00000426354.1_lincRNA	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	28								p.H28Y(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						TCACACTCATGGCAGGGTCCC	0.562																																																	1	Substitution - Missense(1)	kidney(1)											91.0	81.0	84.0					22																	32555121		2203	4300	6503	SO:0001583	missense	150297			BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.82C>T	22.37:g.32555121G>A	ENSP00000371529:p.His28Tyr		A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	37	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.542610	0.00142	.	.	ENSG00000205856	ENST00000382097	T	0.20881	2.04	0.131	-0.261	0.12963	.	.	.	.	.	T	0.09862	0.0242	N	0.08118	0	0.09310	N	1	B	0.33000	0.393	B	0.39119	0.291	T	0.25950	-1.0117	8	0.34782	T	0.22	.	.	.	.	.	28	Q6IC83	CV042_HUMAN	Y	28	ENSP00000371529:H28Y	ENSP00000371529:H28Y	H	-	1	0	C22orf42	30885121	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-4.066000	0.00302	-3.104000	0.00243	-3.144000	0.00059	CAT		0.562	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2		NM_001010859	
C2orf88	84281	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	191064624	191064624	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr2:191064624C>G	ENST00000340623.4	+	2	449	c.38C>G	c.(37-39)cCt>cGt	p.P13R	C2orf88_ENST00000409870.1_Missense_Mutation_p.P13R|C2orf88_ENST00000443551.2_Missense_Mutation_p.P13R|C2orf88_ENST00000396974.2_Missense_Mutation_p.P13R	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	SMAKA_HUMAN	chromosome 2 open reading frame 88	13						plasma membrane (GO:0005886)		p.P13R(1)		kidney(1)|large_intestine(1)|lung(1)	3						TTCCCATTTCCTACCATATAT	0.433																																																	1	Substitution - Missense(1)	kidney(1)											116.0	114.0	115.0					2																	191064624		1925	4136	6061	SO:0001583	missense	84281			BC005083	CCDS42792.1	2q32.2	2014-02-12	2009-04-08		ENSG00000187699	ENSG00000187699			28191	protein-coding gene	gene with protein product	"""small membrane AKAP"""	615117				23996002	Standard	NM_032321		Approved	MGC13057, smAKAP	uc002urt.3	Q9BSF0	OTTHUMG00000154361	ENST00000340623.4:c.38C>G	2.37:g.191064624C>G	ENSP00000345107:p.Pro13Arg		D3DPI3|P0C876|Q53TC7	Missense_Mutation	SNP	ENST00000340623.4	37	CCDS42792.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136540	0.37728	.	.	ENSG00000187699	ENST00000450357;ENST00000396974;ENST00000409545;ENST00000409870;ENST00000340623;ENST00000443551	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	5.31	5.31	0.75309	.	0.240788	0.26450	U	0.024301	T	0.59390	0.2190	.	.	.	0.80722	D	1	D	0.67145	0.996	D	0.65573	0.936	T	0.58521	-0.7622	8	.	.	.	-4.6543	11.4039	0.49885	0.18:0.82:0.0:0.0	.	13	Q9BSF0	CB088_HUMAN	R	13	ENSP00000394370:P13R;ENSP00000380172:P13R;ENSP00000386976:P13R;ENSP00000386649:P13R;ENSP00000345107:P13R;ENSP00000405225:P13R	.	P	+	2	0	C2orf88	190772869	0.797000	0.28877	0.958000	0.39756	0.004000	0.04260	1.664000	0.37439	2.755000	0.94549	0.650000	0.86243	CCT		0.433	C2orf88-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334954.1		NM_032321	
CAMSAP1	157922	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	138713195	138713195	+	Silent	SNP	C	C	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr9:138713195C>T	ENST00000389532.4	-	11	3376	c.3312G>A	c.(3310-3312)ccG>ccA	p.P1104P	CAMSAP1_ENST00000409386.3_Silent_p.P1115P|CAMSAP1_ENST00000312405.6_Silent_p.P826P|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1104					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)	p.P1104P(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TCAGCTCCGCCGGCCTTCCGG	0.652																																																	1	Substitution - coding silent(1)	kidney(1)											33.0	41.0	39.0					9																	138713195		2203	4299	6502	SO:0001819	synonymous_variant	157922			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.3312G>A	9.37:g.138713195C>T			A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	ENST00000389532.4	37	CCDS35176.2																																																																																				0.652	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2		XM_351857	
CDHR5	53841	hgsc.bcm.edu	37	11	617406	617407	+	In_Frame_Ins	INS	-	-	CGCCCT	rs146893811	byFrequency	TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr11:617406_617407insCGCCCT	ENST00000358353.3	-	16	2804_2805	c.2482_2483insAGGGCG	c.(2482-2484)gcg>gAGGGCGcg	p.827_828insEG	IRF7_ENST00000397570.1_5'Flank|CDHR5_ENST00000349570.7_In_Frame_Ins_p.633_634insEG|IRF7_ENST00000525445.1_5'Flank|IRF7_ENST00000397562.3_5'Flank|CDHR5_ENST00000397542.2_In_Frame_Ins_p.827_828insEG|IRF7_ENST00000397574.2_5'Flank|IRF7_ENST00000330243.5_5'Flank|IRF7_ENST00000348655.6_5'Flank|IRF7_ENST00000397566.1_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	827					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						ACCCCTCCCCGCGCCCTCGCCC	0.698														49	0.00978435	0.034	0.0043	5008	,	,		12225	0.001		0.0	False		,,,				2504	0.0																0									,,	117,4087		2,113,1987					,,	1.9	0.0		dbSNP_134	25	47,8153		0,47,4053	no	coding,coding,coding	CDHR5	NM_031264.3,NM_021924.4,NM_001171968.1	,,	2,160,6040	A1A1,A1R,RR		0.5732,2.7831,1.3222	,,	,,		164,12240				SO:0001652	inframe_insertion	53841			AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.2477_2482dupAGGGCG	11.37:g.617407_617412dupCGCCCT	ENSP00000351118:p.Glu826_Gly827dup		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	In_Frame_Ins	INS	ENST00000358353.3	37	CCDS7707.1																																																																																				0.698	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2		NM_021924	
CEP68	23177	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	65299148	65299148	+	Silent	SNP	T	T	G			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr2:65299148T>G	ENST00000377990.2	+	3	1121	c.918T>G	c.(916-918)acT>acG	p.T306T	RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000260569.4_Silent_p.T306T|CEP68_ENST00000546106.1_Silent_p.T306T	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	306					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.T306T(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						TTGACTATACTTACCCACTGA	0.577																																																	1	Substitution - coding silent(1)	kidney(1)											73.0	85.0	81.0					2																	65299148		2203	4300	6503	SO:0001819	synonymous_variant	23177			BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.918T>G	2.37:g.65299148T>G			B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Silent	SNP	ENST00000377990.2	37	CCDS1880.2																																																																																				0.577	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2		NM_015147	
CHD1	1105	hgsc.bcm.edu	37	5	98192165	98192167	+	In_Frame_Del	DEL	AGG	AGG	-	rs398102328|rs79267787|rs138635992|rs61749618	byFrequency	TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	AGG	AGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr5:98192165_98192167delAGG	ENST00000284049.3	-	35	5199_5201	c.5050_5052delCCT	c.(5050-5052)cctdel	p.P1684del		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1684					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)	p.P1684delP(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TGGAGCCATAAGGAGATCTCTGA	0.453														1065	0.21266	0.3411	0.2262	5008	,	,		18993	0.0427		0.2763	False		,,,				2504	0.1391																1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)								1429,2837		256,917,960						5.8	1.0		dbSNP_130	90	2258,5994		309,1640,2177	no	coding	CHD1	NM_001270.2		565,2557,3137	A1A1,A1R,RR		27.3631,33.4974,29.4536				3687,8831				SO:0001651	inframe_deletion	1105			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.5050_5052delCCT	5.37:g.98192165_98192167delAGG	ENSP00000284049:p.Pro1684del		Q17RZ3	In_Frame_Del	DEL	ENST00000284049.3	37	CCDS34204.1																																																																																				0.453	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1		NM_001270	
CIB4	130106	broad.mit.edu;hgsc.bcm.edu	37	2	26806745	26806745	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr2:26806745A>G	ENST00000288861.4	-	5	403	c.350T>C	c.(349-351)aTt>aCt	p.I117T	CIB4_ENST00000405346.3_5'UTR	NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	117	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.I117T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCTCATCAATGAAGCCATT	0.532																																																	1	Substitution - Missense(1)	kidney(1)											96.0	89.0	91.0					2																	26806745		2203	4300	6503	SO:0001583	missense	130106				CCDS33160.1	2p23.3	2013-01-10			ENSG00000157884	ENSG00000157884		"""EF-hand domain containing"""	33703	protein-coding gene	gene with protein product		610646				15574431	Standard	NM_001029881		Approved		uc002rhm.3	A0PJX0	OTTHUMG00000151993	ENST00000288861.4:c.350T>C	2.37:g.26806745A>G	ENSP00000288861:p.Ile117Thr		B2RU18	Missense_Mutation	SNP	ENST00000288861.4	37	CCDS33160.1	.	.	.	.	.	.	.	.	.	.	A	16.77	3.216271	0.58452	.	.	ENSG00000157884	ENST00000288861;ENST00000403670;ENST00000405346	T	0.78126	-1.15	5.53	4.36	0.52297	EF-hand-like domain (1);	0.000000	0.64402	D	0.000019	D	0.90896	0.7139	H	0.97415	4	0.41118	D	0.985799	D	0.71674	0.998	D	0.74023	0.982	D	0.91239	0.5020	10	0.87932	D	0	.	8.7577	0.34656	0.8315:0.0:0.0:0.1685	.	117	A0PJX0	CIB4_HUMAN	T	117;72;119	ENSP00000288861:I117T	ENSP00000288861:I117T	I	-	2	0	CIB4	26660249	0.997000	0.39634	0.917000	0.36280	0.914000	0.54420	4.623000	0.61247	0.919000	0.36945	-0.333000	0.08304	ATT		0.532	CIB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324709.1			
CIT	11113	hgsc.bcm.edu;ucsc.edu	37	12	120241113	120241113	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr12:120241113delA	ENST00000261833.7	-	10	1244	c.1192delT	c.(1192-1194)tcafs	p.S400fs	CIT_ENST00000392521.2_Frame_Shift_Del_p.S400fs	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	400	AGC-kinase C-terminal.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GGAGAGGATGAAACCCACGAA	0.517																																																	0													92.0	92.0	92.0					12																	120241113		2203	4300	6503	SO:0001589	frameshift_variant	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.1192delT	12.37:g.120241113delA	ENSP00000261833:p.Ser400fs		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Frame_Shift_Del	DEL	ENST00000261833.7	37	CCDS9192.1																																																																																				0.517	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4		NM_007174	
CNOT4	4850	hgsc.bcm.edu;ucsc.edu	37	7	135098321	135098322	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr7:135098321_135098322insTT	ENST00000315544.5	-	6	881_882	c.602_603insAA	c.(601-603)aagfs	p.K201fs	CNOT4_ENST00000451834.1_Frame_Shift_Ins_p.K201fs|CNOT4_ENST00000414802.1_Frame_Shift_Ins_p.K201fs|CNOT4_ENST00000541284.1_Frame_Shift_Ins_p.K201fs|CNOT4_ENST00000423368.2_Frame_Shift_Ins_p.K201fs|CNOT4_ENST00000428680.2_Frame_Shift_Ins_p.K201fs|CNOT4_ENST00000356162.4_Frame_Shift_Ins_p.K201fs|CNOT4_ENST00000361528.4_Frame_Shift_Ins_p.K201fs	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	201				K -> R (in Ref. 4; BAH13270). {ECO:0000305}.	gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						ACTGCATATTCTTTAAGAAGTA	0.431																																					Ovarian(51;766 1130 5502 35047 50875)												0																																										SO:0001589	frameshift_variant	4850			AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.601_602dupAA	7.37:g.135098322_135098323dupTT	ENSP00000326731:p.Lys201fs		B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Frame_Shift_Ins	INS	ENST00000315544.5	37	CCDS55166.1																																																																																				0.431	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_013316	
CORO1A	11151	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	30198495	30198495	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr16:30198495G>A	ENST00000219150.5	+	5	892	c.587G>A	c.(586-588)cGt>cAt	p.R196H	RP11-455F5.5_ENST00000566144.1_RNA|CORO1A_ENST00000570045.1_Missense_Mutation_p.R196H|RP11-455F5.5_ENST00000567153.1_RNA|CORO1A_ENST00000565497.1_Missense_Mutation_p.R196H|RP11-455F5.5_ENST00000568506.1_RNA	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	196					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|calcium ion transport (GO:0006816)|cell-substrate adhesion (GO:0031589)|cellular component movement (GO:0006928)|cellular response to interleukin-4 (GO:0071353)|homeostasis of number of cells within a tissue (GO:0048873)|innate immune response (GO:0045087)|leukocyte chemotaxis (GO:0030595)|negative regulation of actin nucleation (GO:0051126)|phagocytosis (GO:0006909)|phagolysosome assembly (GO:0001845)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of T cell proliferation (GO:0042102)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|T cell homeostasis (GO:0043029)|uropod organization (GO:0032796)	actin filament (GO:0005884)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|phosphatidylinositol 3-kinase binding (GO:0043548)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.R196H(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						ACCTCCTGCCGTGACAAGCGC	0.587																																																	1	Substitution - Missense(1)	kidney(1)											73.0	68.0	70.0					16																	30198495		2197	4300	6497	SO:0001583	missense	11151			X89109	CCDS10673.1	16p11.2	2014-09-17	2001-11-28		ENSG00000102879	ENSG00000102879		"""Coronins"", ""WD repeat domain containing"""	2252	protein-coding gene	gene with protein product	"""Clabp TACO"""	605000	"""coronin, actin-binding protein, 1A"""			9778037	Standard	NM_007074		Approved	HCORO1, p57, coronin-1	uc002dww.3	P31146	OTTHUMG00000132148	ENST00000219150.5:c.587G>A	16.37:g.30198495G>A	ENSP00000219150:p.Arg196His		B2RBL1|Q2YD73	Missense_Mutation	SNP	ENST00000219150.5	37	CCDS10673.1	.	.	.	.	.	.	.	.	.	.	.	28.2	4.901437	0.92035	.	.	ENSG00000102879	ENST00000219150	T	0.63096	-0.02	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.052405	0.64402	D	0.000001	T	0.68348	0.2991	N	0.25825	0.765	0.42748	D	0.993761	D;D	0.76494	0.999;0.967	D;P	0.67725	0.953;0.875	T	0.72792	-0.4186	10	0.72032	D	0.01	-12.1923	17.0358	0.86474	0.0:0.0:1.0:0.0	.	252;196	Q59G88;P31146	.;COR1A_HUMAN	H	196	ENSP00000219150:R196H	ENSP00000219150:R196H	R	+	2	0	CORO1A	30105996	1.000000	0.71417	0.999000	0.59377	0.886000	0.51366	4.858000	0.62947	2.576000	0.86940	0.561000	0.74099	CGT		0.587	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255195.2		NM_007074	
CRELD2	79174	hgsc.bcm.edu	37	22	50315936	50315973	+	Intron	DEL	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	-	rs377640443|rs562885075|rs542695980|rs113299196|rs7410276|rs12160965|rs371945800|rs386822607|rs386822606|rs564615833|rs368043307|rs71805922|rs386822608|rs73891177|rs553609580	byFrequency	TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr22:50315936_50315973delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	ENST00000328268.4	+	6	666				CRELD2_ENST00000444954.1_Intron|CRELD2_ENST00000403427.3_Intron|CRELD2_ENST00000404488.3_Splice_Site_p.PQQSGPASPI198fs|CRELD2_ENST00000407217.3_Intron	NM_024324.3	NP_077300.3	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2							endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		TTCTTACGCCCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCGCCTTGCTGTC	0.622																																																	0									,	660,2750		176,308,1221					,	-1.2	0.0		dbSNP_130	26	366,6880		58,250,3315	no	intron,frameshift-near-splice	CRELD2	NM_024324.3,NM_001135101.1	,	234,558,4536	A1A1,A1R,RR		5.0511,19.3548,9.6284	,	,		1026,9630				SO:0001627	intron_variant	79174			BC050675	CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1	22q13.33	2005-12-08			ENSG00000184164	ENSG00000184164			28150	protein-coding gene	gene with protein product		607171				12137942	Standard	XM_005261737		Approved	MGC11256	uc010hal.2	Q6UXH1	OTTHUMG00000150292	ENST00000328268.4:c.593-287CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG>-	22.37:g.50315936_50315973delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG			A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47	Frame_Shift_Del	DEL	ENST00000328268.4	37	CCDS14082.1																																																																																				0.622	CRELD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317409.1		NM_024324	
CSTF3	1479	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	33108666	33108666	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr11:33108666C>T	ENST00000323959.4	-	18	1802	c.1663G>A	c.(1663-1665)Gca>Aca	p.A555T	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	555					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A555T(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						ATTATAGCTGCTAGCTTAGCA	0.423																																																	1	Substitution - Missense(1)	kidney(1)											208.0	208.0	208.0					11																	33108666		2202	4298	6500	SO:0001583	missense	1479			U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1663G>A	11.37:g.33108666C>T	ENSP00000315791:p.Ala555Thr		A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	ENST00000323959.4	37	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602872	0.66445	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	.	.	.	5.82	5.82	0.92795	Suppressor of forked (1);	0.000000	0.85682	D	0.000000	T	0.56171	0.1967	L	0.43152	1.355	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.51710	-0.8671	9	0.13853	T	0.58	.	20.0966	0.97849	0.0:1.0:0.0:0.0	.	555	Q12996	CSTF3_HUMAN	T	555;488	.	ENSP00000315791:A555T	A	-	1	0	CSTF3	33065242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.983000	0.63832	2.751000	0.94390	0.650000	0.86243	GCA		0.423	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1		NM_001326	
DGKZ	8525	broad.mit.edu;ucsc.edu	37	11	46401080	46401080	+	Missense_Mutation	SNP	G	G	A	rs540339132		TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr11:46401080G>A	ENST00000454345.1	+	31	3324	c.3199G>A	c.(3199-3201)Gtg>Atg	p.V1067M	DGKZ_ENST00000532868.2_Missense_Mutation_p.V883M|DGKZ_ENST00000527911.1_Missense_Mutation_p.V884M|MDK_ENST00000395569.4_5'Flank|DGKZ_ENST00000343674.6_Missense_Mutation_p.V895M|DGKZ_ENST00000395574.3_Missense_Mutation_p.V845M|DGKZ_ENST00000456247.2_Missense_Mutation_p.V878M|DGKZ_ENST00000528615.1_Missense_Mutation_p.V657M|MDK_ENST00000359803.3_5'Flank|DGKZ_ENST00000318201.8_Missense_Mutation_p.V856M|DGKZ_ENST00000421244.2_Missense_Mutation_p.V879M|DGKZ_ENST00000543978.1_Missense_Mutation_p.V231M|MDK_ENST00000407067.1_5'Flank|MDK_ENST00000395566.4_5'Flank|MDK_ENST00000395565.1_5'Flank|MDK_ENST00000405308.2_5'Flank	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	1067					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)	p.V879M(1)|p.V895M(1)|p.V1067M(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCACTACATCGTGGAGGCCGG	0.662																																																	3	Substitution - Missense(3)	kidney(3)											19.0	19.0	19.0					11																	46401080		2192	4292	6484	SO:0001583	missense	8525			U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.3199G>A	11.37:g.46401080G>A	ENSP00000412178:p.Val1067Met		B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021148	0.93462	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000543978;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	D;D;D;D;D;T;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-0.25;-1.72;-1.72;-1.72;-1.72	4.15	4.15	0.48705	Ankyrin repeat-containing domain (3);	0.240956	0.33515	N	0.004823	D	0.90518	0.7029	M	0.78801	2.425	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.999;0.999;1.0	D;D;D;D;D;D;D;D	0.83275	0.996;0.984;0.984;0.996;0.973;0.958;0.975;0.984	D	0.91779	0.5434	10	0.72032	D	0.01	.	15.1438	0.72633	0.0:0.0:1.0:0.0	.	856;844;884;1067;878;879;845;895	B7Z2M9;B7Z6M3;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;DGKZ_HUMAN;.;.;.;.	M	895;657;845;844;231;884;878;879;856;1067	ENSP00000343065:V895M;ENSP00000434719:V657M;ENSP00000378941:V845M;ENSP00000436273:V844M;ENSP00000438417:V231M;ENSP00000436291:V884M;ENSP00000395684:V878M;ENSP00000391021:V879M;ENSP00000320340:V856M;ENSP00000412178:V1067M	ENSP00000320340:V856M	V	+	1	0	DGKZ	46357656	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.706000	0.84615	2.318000	0.78349	0.561000	0.74099	GTG		0.662	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1		NM_001105540	
DNAH17	8632	broad.mit.edu	37	17	76451801	76451801	+	Silent	SNP	G	G	A			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr17:76451801G>A	ENST00000585328.1	-	63	10204	c.10080C>T	c.(10078-10080)taC>taT	p.Y3360Y	DNAH17_ENST00000586052.1_Intron|DNAH17_ENST00000389840.5_Silent_p.Y3351Y	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3351					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)	p.Y3360Y(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGTAGCCCACGTAGGACACGA	0.532																																																	1	Substitution - coding silent(1)	kidney(1)											83.0	64.0	70.0					17																	76451801		2203	4299	6502	SO:0001819	synonymous_variant	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.10080C>T	17.37:g.76451801G>A			O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37																																																																																					0.532	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2		NM_173628	
DNMT3A	1788	broad.mit.edu	37	2	25470497	25470497	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr2:25470497C>T	ENST00000264709.3	-	8	1314	c.977G>A	c.(976-978)cGc>cAc	p.R326H	DNMT3A_ENST00000402667.1_Missense_Mutation_p.R103H|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R326H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R137H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	326	Interaction with DNMT1 and DNMT3B.|PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R326H(1)|p.R137H(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGACCCAGCGGGTGCCTTC	0.632			"""Mis, F, N, S"""		AML																																			Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	2	Substitution - Missense(2)	kidney(2)											130.0	138.0	135.0					2																	25470497		2203	4300	6503	SO:0001583	missense	1788				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.977G>A	2.37:g.25470497C>T	ENSP00000264709:p.Arg326His		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942286	0.92526	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	4.97	4.97	0.65823	PWWP (3);	0.000000	0.85682	D	0.000000	T	0.76026	0.3930	L	0.27975	0.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.976;1.0	T	0.77143	-0.2696	10	0.48119	T	0.1	-9.0594	16.948	0.86235	0.0:1.0:0.0:0.0	.	326;137	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	137;326;326;103	ENSP00000370122:R137H;ENSP00000324375:R326H;ENSP00000264709:R326H;ENSP00000384237:R103H	ENSP00000264709:R326H	R	-	2	0	DNMT3A	25324001	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.853000	0.69496	2.584000	0.87258	0.462000	0.41574	CGC		0.632	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1		NM_022552	
DUOX1	53905	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	45428753	45428753	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr15:45428753A>G	ENST00000321429.4	+	10	1359	c.952A>G	c.(952-954)Atc>Gtc	p.I318V	DUOX1_ENST00000389037.3_Missense_Mutation_p.I318V|DUOX1_ENST00000561166.1_5'Flank	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	318	Peroxidase-like; mediates peroxidase activity.				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.I318V(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)		GGACCCCAGCATCTCCTCAGA	0.582																																																	1	Substitution - Missense(1)	kidney(1)											86.0	84.0	85.0					15																	45428753		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.952A>G	15.37:g.45428753A>G	ENSP00000317997:p.Ile318Val		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.001313	0.35320	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.74737	-0.87;-0.87	4.75	2.44	0.29823	.	0.096756	0.64402	N	0.000001	T	0.62853	0.2462	L	0.45228	1.405	0.80722	D	1	B	0.14438	0.01	B	0.23574	0.047	T	0.51810	-0.8658	10	0.27785	T	0.31	-27.7017	7.4461	0.27211	0.8182:0.0:0.1818:0.0	.	318	Q9NRD9	DUOX1_HUMAN	V	318	ENSP00000317997:I318V;ENSP00000373689:I318V	ENSP00000317997:I318V	I	+	1	0	DUOX1	43216045	0.997000	0.39634	1.000000	0.80357	0.973000	0.67179	2.216000	0.42871	0.422000	0.26005	0.459000	0.35465	ATC		0.582	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1		NM_017434	
ELK4	2005	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	205592865	205592865	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr1:205592865T>C	ENST00000357992.4	-	2	485	c.146A>G	c.(145-147)aAg>aGg	p.K49R	ELK4_ENST00000468523.1_5'UTR|ELK4_ENST00000289703.4_Missense_Mutation_p.K49R	NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)	49					cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.K49R(2)	SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			AGGCTTGTTCTTGCGAATCCC	0.448			T	SLC45A3	prostate																																			Dom	yes		1	1q32	2005	"""ELK4, ETS-domain protein (SRF accessory protein 1)"""		E	2	Substitution - Missense(2)	kidney(2)											188.0	192.0	191.0					1																	205592865		2203	4300	6503	SO:0001583	missense	2005			M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711			3326	protein-coding gene	gene with protein product		600246				7851904, 8575773	Standard	NM_001973		Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.146A>G	1.37:g.205592865T>C	ENSP00000350681:p.Lys49Arg		P28323|Q6GSJ2	Missense_Mutation	SNP	ENST00000357992.4	37	CCDS1456.1	.	.	.	.	.	.	.	.	.	.	T	33	5.213945	0.95104	.	.	ENSG00000158711	ENST00000539916;ENST00000357992;ENST00000289703	T;T	0.67345	-0.26;-0.26	5.58	5.58	0.84498	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	D	0.86932	0.6052	H	0.95679	3.705	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.87578	0.998;0.994	D	0.90705	0.4623	10	0.87932	D	0	.	14.8649	0.70406	0.0:0.0:0.0:1.0	.	49;49	P28324-2;P28324	.;ELK4_HUMAN	R	139;49;49	ENSP00000350681:K49R;ENSP00000289703:K49R	ENSP00000289703:K49R	K	-	2	0	ELK4	203859488	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.997000	0.88414	2.242000	0.73789	0.533000	0.62120	AAG		0.448	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090615.1		NM_021795	
FGF7	2252	hgsc.bcm.edu	37	15	49776509	49776509	+	Silent	SNP	A	A	G			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr15:49776509A>G	ENST00000267843.4	+	4	1004	c.393A>G	c.(391-393)aaA>aaG	p.K131K	FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560704.1_3'UTR	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	131					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		TTTAACAGAAAGAATGCAATG	0.333																																																	0													34.0	34.0	34.0					15																	49776509		2034	3868	5902	SO:0001819	synonymous_variant	2252			M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"""Endogenous ligands"""	3685	protein-coding gene	gene with protein product	"""keratinocyte growth factor"""	148180	"""fibroblast growth factor 7 (keratinocyte growth factor)"""			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.393A>G	15.37:g.49776509A>G			H0YNY5|Q6FGV5|Q96FG5	Silent	SNP	ENST00000267843.4	37	CCDS10131.1																																																																																				0.333	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3		NM_002009	
FGF7	2252	hgsc.bcm.edu	37	15	49776514	49776514	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr15:49776514G>A	ENST00000267843.4	+	4	1009	c.398G>A	c.(397-399)tGc>tAc	p.C133Y	FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560704.1_3'UTR	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	133					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		CAGAAAGAATGCAATGAAGAT	0.338																																																	0													35.0	35.0	35.0					15																	49776514		2033	3868	5901	SO:0001583	missense	2252			M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"""Endogenous ligands"""	3685	protein-coding gene	gene with protein product	"""keratinocyte growth factor"""	148180	"""fibroblast growth factor 7 (keratinocyte growth factor)"""			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.398G>A	15.37:g.49776514G>A	ENSP00000267843:p.Cys133Tyr		H0YNY5|Q6FGV5|Q96FG5	Missense_Mutation	SNP	ENST00000267843.4	37	CCDS10131.1	.	.	.	.	.	.	.	.	.	.	.	1.971	-0.436389	0.04636	.	.	ENSG00000140285	ENST00000267843	T	0.64085	-0.08	5.92	5.92	0.95590	.	0.048209	0.85682	D	0.000000	T	0.49864	0.1582	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44143	-0.9347	9	0.12430	T	0.62	.	19.9276	0.97108	0.0:0.0:1.0:0.0	.	133	P21781	FGF7_HUMAN	Y	133	ENSP00000267843:C133Y	ENSP00000267843:C133Y	C	+	2	0	FGF7	47563806	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.038000	0.64177	2.801000	0.96364	0.650000	0.86243	TGC		0.338	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3		NM_002009	
FLJ12825	440101	broad.mit.edu	37	12	54515536	54515536	+	lincRNA	DEL	C	C	-	rs112977992		TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr12:54515536delC	ENST00000515617.1	+	0	3460				RP11-834C11.5_ENST00000508763.1_RNA	NR_026655.1																						CCATCCCCTACCCCAATCAGG	0.517																																																	0																																												440101																															12.37:g.54515536delC				RNA	DEL	ENST00000515617.1	37																																																																																					0.517	RP11-834C11.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000358961.1			
FRG1	2483	hgsc.bcm.edu	37	4	190876283	190876283	+	Missense_Mutation	SNP	C	C	A			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr4:190876283C>A	ENST00000226798.4	+	5	631	c.409C>A	c.(409-411)Caa>Aaa	p.Q137K	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	137					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		ACCAAGAGAACAATGGGAACC	0.353																																																	0													88.0	87.0	87.0					4																	190876283		2203	4300	6503	SO:0001583	missense	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.409C>A	4.37:g.190876283C>A	ENSP00000226798:p.Gln137Lys		A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	16.72	3.202137	0.58234	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.49139	2.03;0.79	4.04	4.04	0.47022	Actin cross-linking (1);	0.103449	0.64402	D	0.000002	T	0.54902	0.1887	M	0.88377	2.95	0.80722	D	1	B	0.11235	0.004	B	0.15484	0.013	T	0.60078	-0.7333	10	0.42905	T	0.14	-3.5101	14.1451	0.65347	0.0:1.0:0.0:0.0	.	137	Q14331	FRG1_HUMAN	K	137;74	ENSP00000226798:Q137K;ENSP00000435943:Q74K	ENSP00000226798:Q137K	Q	+	1	0	FRG1	191113277	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.292000	0.78731	1.964000	0.57103	0.567000	0.79289	CAA		0.353	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4		NM_004477	
TRIAP1	51499	hgsc.bcm.edu	37	12	120884306	120884307	+	5'Flank	INS	-	-	G			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr12:120884306_120884307insG	ENST00000546954.1	-	0	0				TRIAP1_ENST00000302432.3_5'Flank|AL021546.6_ENST00000551806.1_Intron|GATC_ENST00000551765.1_Frame_Shift_Ins_p.LG8fs	NM_016399.2	NP_057483.1	O43715	TRIA1_HUMAN	TP53 regulated inhibitor of apoptosis 1						cellular response to UV (GO:0034644)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|phospholipid transport (GO:0015914)|positive regulation of phospholipid transport (GO:2001140)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of membrane lipid distribution (GO:0097035)	mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	p53 binding (GO:0002039)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGGTGTGGCTGGGCCTTCGGG	0.683																																																	0																																										SO:0001631	upstream_gene_variant	283459				CCDS9198.1	12q24.31	2012-10-15			ENSG00000170855	ENSG00000170855			26937	protein-coding gene	gene with protein product	"""p53-inducible cell-survival factor"", ""mitochondrial distribution and morphology 35 homolog (S. cerevisiae)"""	614943				11042152, 15735003	Standard	NM_016399		Approved	P53CSV, WF-1, HSPC132, p53CSV, MDM35	uc001tyg.3	O43715	OTTHUMG00000047787		12.37:g.120884309_120884309dupG	Exception_encountered		B2R4Z7|Q5RKS5|Q6LCA7	Frame_Shift_Ins	INS	ENST00000546954.1	37	CCDS9198.1																																																																																				0.683	TRIAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108980.3		NM_016399	
GCNT2	2651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	10529526	10529526	+	Silent	SNP	C	C	T	rs151060330		TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr6:10529526C>T	ENST00000379597.3	+	1	938	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Silent_p.L128L			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	128					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.L128L(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CTGTGTGCACCTGGATCAGAA	0.478																																																	1	Substitution - coding silent(1)	kidney(1)											88.0	82.0	84.0					6																	10529526		2203	4300	6503	SO:0001819	synonymous_variant	2651			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.382C>T	6.37:g.10529526C>T				Silent	SNP	ENST00000379597.3	37	CCDS34338.1																																																																																				0.478	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3		NM_145649	
GGT1	2678	broad.mit.edu	37	22	25007058	25007058	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr22:25007058A>T	ENST00000400382.1	+	5	765	c.10A>T	c.(10-12)Aag>Tag	p.K4*	GGT1_ENST00000406383.2_Nonsense_Mutation_p.K4*|GGT1_ENST00000400383.1_Nonsense_Mutation_p.K4*|GGT1_ENST00000400380.1_Nonsense_Mutation_p.K4*|GGT1_ENST00000248923.4_Nonsense_Mutation_p.K4*			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	4					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.K4*(1)		breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CATGAAGAAGAAGTTAGTGGT	0.602																																																	1	Substitution - Nonsense(1)	kidney(1)											9.0	9.0	9.0					22																	25007058		1928	4075	6003	SO:0001587	stop_gained	2678			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.10A>T	22.37:g.25007058A>T	ENSP00000383232:p.Lys4*		Q08247|Q14404|Q8TBS1|Q9UMK1	Nonsense_Mutation	SNP	ENST00000400382.1	37	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	21.8	4.195386	0.78902	.	.	ENSG00000100031	ENST00000248923;ENST00000456869;ENST00000411974;ENST00000412658;ENST00000445029;ENST00000419133;ENST00000400382;ENST00000438643;ENST00000452551;ENST00000400383;ENST00000412898;ENST00000400380;ENST00000455483;ENST00000430289;ENST00000447416;ENST00000432867;ENST00000451366;ENST00000406383;ENST00000428855	.	.	.	3.5	-1.98	0.07480	.	7.178310	0.01157	U	0.006547	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-7.3243	5.5896	0.17293	0.4929:0.4042:0.0:0.103	.	.	.	.	X	4	.	ENSP00000248923:K4X	K	+	1	0	GGT1	23337058	0.107000	0.21998	0.105000	0.21289	0.090000	0.18270	0.108000	0.15396	-0.036000	0.13669	-1.195000	0.01675	AAG		0.602	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1		NM_013430	
GLB1	2720	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	33038793	33038793	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr3:33038793G>A	ENST00000399402.3	-	16	1819	c.1688C>T	c.(1687-1689)cCa>cTa	p.P563L	GLB1_ENST00000307363.5_Missense_Mutation_p.P593L|GLB1_ENST00000307377.8_Missense_Mutation_p.P462L|GLB1_ENST00000445488.2_Missense_Mutation_p.P641L	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	593					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)	p.P593L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GCCCCGGGCTGGCCAATAGCG	0.587																																																	1	Substitution - Missense(1)	kidney(1)											40.0	41.0	41.0					3																	33038793		1906	4118	6024	SO:0001583	missense	2720			M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.1688C>T	3.37:g.33038793G>A	ENSP00000382333:p.Pro563Leu		B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	ENST00000399402.3	37	CCDS43062.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693553	0.88735	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000307377	D;D;D;D	0.95788	-3.81;-3.81;-3.81;-3.81	5.31	4.43	0.53597	Galactose-binding domain-like (1);	0.102175	0.64402	D	0.000002	D	0.97324	0.9125	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.998;0.996;0.991;0.985	D	0.97620	1.0135	10	0.72032	D	0.01	-10.5365	13.2546	0.60070	0.0775:0.0:0.9225:0.0	.	593;462;593;641	Q53G40;E7EQ29;P16278;B7Z6Q5	.;.;BGAL_HUMAN;.	L	563;593;641;462	ENSP00000382333:P563L;ENSP00000306920:P593L;ENSP00000393377:P641L;ENSP00000305920:P462L	ENSP00000306920:P593L	P	-	2	0	GLB1	33013797	1.000000	0.71417	0.745000	0.31077	0.984000	0.73092	9.602000	0.98312	1.249000	0.43950	0.456000	0.33151	CCA		0.587	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2		NM_000404	
GNMT	27232	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	42931107	42931107	+	Silent	SNP	G	G	A			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr6:42931107G>A	ENST00000372808.3	+	5	646	c.636G>A	c.(634-636)gtG>gtA	p.V212V		NM_018960.4	NP_061833.1	Q14749	GNMT_HUMAN	glycine N-methyltransferase	212					cellular protein modification process (GO:0006464)|glycogen metabolic process (GO:0005977)|methionine metabolic process (GO:0006555)|one-carbon metabolic process (GO:0006730)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|S-adenosylmethionine metabolic process (GO:0046500)	cytoplasm (GO:0005737)	folic acid binding (GO:0005542)|glycine binding (GO:0016594)|glycine N-methyltransferase activity (GO:0017174)	p.V212V(1)		kidney(2)|large_intestine(1)|lung(1)	4	Colorectal(47;0.196)		all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461)		Glycine(DB00145)|S-Adenosylmethionine(DB00118)	TGCTGATAGTGAACAACAAGG	0.592																																																	1	Substitution - coding silent(1)	kidney(1)											53.0	45.0	48.0					6																	42931107		2203	4300	6503	SO:0001819	synonymous_variant	27232			AF101475	CCDS4876.1	6p12	2008-02-05			ENSG00000124713	ENSG00000124713			4415	protein-coding gene	gene with protein product		606628				10843803, 9495250	Standard	NM_018960		Approved		uc003otd.3	Q14749	OTTHUMG00000014712	ENST00000372808.3:c.636G>A	6.37:g.42931107G>A			Q5T8W2|Q9NNZ1|Q9NS24	Silent	SNP	ENST00000372808.3	37	CCDS4876.1																																																																																				0.592	GNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040568.1		NM_018960	
GPR152	390212	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	67220120	67220120	+	Missense_Mutation	SNP	A	A	C	rs199732498		TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr11:67220120A>C	ENST00000312457.2	-	1	80	c.76T>G	c.(76-78)Tac>Gac	p.Y26D	CABP4_ENST00000438189.2_Intron|CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000325656.5_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CCTTGGGGGTAGGAGTCCTCA	0.652																																					Pancreas(102;800 1581 2723 7382 33622)												0													54.0	55.0	55.0					11																	67220120		2194	4283	6477	SO:0001583	missense	390212			AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"""GPCR / Class A : Orphans"""	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.76T>G	11.37:g.67220120A>C	ENSP00000310255:p.Tyr26Asp		Q0VD88|Q86SM0	Missense_Mutation	SNP	ENST00000312457.2	37	CCDS8165.1	.	.	.	.	.	.	.	.	.	.	A	16.87	3.242417	0.58995	.	.	ENSG00000175514	ENST00000312457	T	0.16196	2.36	5.07	5.07	0.68467	.	0.219602	0.23123	N	0.051673	T	0.17280	0.0415	L	0.27053	0.805	0.80722	D	1	P	0.48162	0.906	P	0.47402	0.546	T	0.01715	-1.1289	10	0.40728	T	0.16	.	12.8053	0.57610	1.0:0.0:0.0:0.0	.	26	Q8TDT2	GP152_HUMAN	D	26	ENSP00000310255:Y26D	ENSP00000310255:Y26D	Y	-	1	0	GPR152	66976696	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	3.738000	0.55067	2.132000	0.65825	0.459000	0.35465	TAC		0.652	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1			
GRIA2	2891	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	158142838	158142838	+	Silent	SNP	C	C	T	rs371935251		TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr4:158142838C>T	ENST00000264426.9	+	2	387	c.108C>T	c.(106-108)ggC>ggT	p.G36G	GRIA2_ENST00000393815.2_5'UTR|GRIA2_ENST00000507898.1_5'UTR|GRIA2_ENST00000296526.7_Silent_p.G36G|GRIA2_ENST00000449365.1_5'UTR|GRIA2_ENST00000504801.1_Intron	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	36					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.G36G(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TTCCTAGGGGCGCCGATCAAG	0.537																																																	2	Substitution - coding silent(2)	kidney(2)											95.0	99.0	98.0					4																	158142838		2203	4300	6503	SO:0001819	synonymous_variant	2891				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.108C>T	4.37:g.158142838C>T			A8MT92|I6L997|Q96FP6	Silent	SNP	ENST00000264426.9	37	CCDS43274.1																																																																																				0.537	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			
HEXA	3073	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	72642868	72642868	+	Missense_Mutation	SNP	A	A	C			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr15:72642868A>C	ENST00000268097.5	-	7	1299	c.796T>G	c.(796-798)Tgg>Ggg	p.W266G	HEXA_ENST00000567159.1_Missense_Mutation_p.W266G|RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000457859.2_Missense_Mutation_p.W74G|HEXA_ENST00000429918.2_Missense_Mutation_p.W93G|HEXA_ENST00000566304.1_Missense_Mutation_p.W277G	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	266					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)	p.W266G(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CCTGGTCCCCAGGACAAAGTG	0.537																																																	1	Substitution - Missense(1)	kidney(1)											146.0	131.0	136.0					15																	72642868		2199	4297	6496	SO:0001583	missense	3073			M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.796T>G	15.37:g.72642868A>C	ENSP00000268097:p.Trp266Gly		B4DKE7|E7ENH7|Q53HS8|Q6AI32	Missense_Mutation	SNP	ENST00000268097.5	37	CCDS10243.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.560288	0.86335	.	.	ENSG00000213614	ENST00000268097;ENST00000457859;ENST00000429918	D;D;D	0.96830	-4.14;-4.14;-4.14	5.87	5.87	0.94306	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	0.000000	0.85682	D	0.000000	D	0.98544	0.9514	H	0.94264	3.515	0.80722	D	1	P;D;P;D;D	0.61697	0.857;0.99;0.857;0.968;0.984	P;D;P;P;D	0.71656	0.77;0.974;0.77;0.889;0.949	D	0.99204	1.0874	10	0.33940	T	0.23	-12.2101	16.2847	0.82712	1.0:0.0:0.0:0.0	.	93;277;93;146;266	E9PGL4;B4DVA7;B4DVL8;Q9BVJ8;P06865	.;.;.;.;HEXA_HUMAN	G	266;74;93	ENSP00000268097:W266G;ENSP00000398026:W74G;ENSP00000416187:W93G	ENSP00000268097:W266G	W	-	1	0	HEXA	70429922	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.226000	0.95229	2.242000	0.73789	0.528000	0.53228	TGG		0.537	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2		NM_000520	
HLA-B	3106	hgsc.bcm.edu	37	6	31324542	31324542	+	Missense_Mutation	SNP	T	T	C	rs1131201|rs281864604	byFrequency	TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr6:31324542T>C	ENST00000412585.2	-	2	294	c.266A>G	c.(265-267)cAg>cGg	p.Q89R		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	89	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CTTGTAGATCTGTGTGTTCCG	0.672									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				.|||	444	0.0886581	0.1225	0.049	5008	,	,		6988	0.0665		0.0527	False		,,,				2504	0.1309																0													64.0	63.0	64.0					6																	31324542		2115	4146	6261	SO:0001583	missense	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.266A>G	6.37:g.31324542T>C	ENSP00000399168:p.Gln89Arg		Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	N	5.583	0.292411	0.10567	.	.	ENSG00000234745	ENST00000412585;ENST00000434333	T;T	0.00010	9.39;9.39	3.2	-2.25	0.06888	MHC class I, alpha chain, alpha1/alpha2 (4);MHC classes I/II-like antigen recognition protein (2);MHC class I-like antigen recognition (2);	2.810030	0.03023	N	0.151052	T	0.00012	0.0000	N	0.02412	-0.56	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.17979	0.01;0.02;0.005	T	0.09292	-1.0681	10	0.02654	T	1	.	5.3015	0.15780	0.0:0.2931:0.1602:0.5467	rs1131201;rs3190900	89;89;64	P30480;P01889;Q92671	1B42_HUMAN;1B07_HUMAN;.	R	89;100	ENSP00000399168:Q89R;ENSP00000405931:Q100R	ENSP00000399168:Q89R	Q	-	2	0	HLA-B	31432521	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.279000	0.01159	-0.829000	0.04268	-2.398000	0.00225	CAG		0.672	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4		NM_005514	
HSPG2	3339	broad.mit.edu	37	1	22166039	22166039	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr1:22166039G>C	ENST00000374695.3	-	73	9793	c.9714C>G	c.(9712-9714)agC>agG	p.S3238R		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3238	Ig-like C2-type 18.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGGGCGCGGGGCTGCCTGTGG	0.647																																																	0													39.0	38.0	38.0					1																	22166039		2203	4300	6503	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.9714C>G	1.37:g.22166039G>C	ENSP00000363827:p.Ser3238Arg		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	3.643	-0.073131	0.07228	.	.	ENSG00000142798	ENST00000374695	T	0.67523	-0.27	5.5	4.59	0.56863	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.150229	0.30979	N	0.008500	T	0.51261	0.1664	N	0.21142	0.635	0.32402	N	0.551841	B;P	0.39044	0.002;0.656	B;B	0.37198	0.014;0.243	T	0.58487	-0.7628	10	0.21014	T	0.42	.	14.4737	0.67533	0.0:0.2793:0.7207:0.0	.	1178;3238	Q59EG0;P98160	.;PGBM_HUMAN	R	3238	ENSP00000363827:S3238R	ENSP00000363827:S3238R	S	-	3	2	HSPG2	22038626	0.987000	0.35691	1.000000	0.80357	0.129000	0.20672	0.413000	0.21148	1.330000	0.45394	-0.257000	0.10917	AGC		0.647	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1		NM_005529	
IGF2	3481	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	2154815	2154815	+	Silent	SNP	G	G	A			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr11:2154815G>A	ENST00000416167.2	-	3	1404	c.238C>T	c.(238-240)Ctg>Ttg	p.L80L	IGF2_ENST00000381392.1_Silent_p.L83L|IGF2_ENST00000381389.1_Silent_p.L80L|IGF2_ENST00000418738.2_Silent_p.L80L|IGF2_ENST00000300632.5_Silent_p.L80L|IGF2_ENST00000381395.1_Silent_p.L80L|MIR483_ENST00000385070.1_RNA|IGF2_ENST00000381406.4_Silent_p.L83L|IGF2_ENST00000434045.2_Silent_p.L136L			P01344	IGF2_HUMAN	insulin-like growth factor 2	80	A.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|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 steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)	p.L80L(1)|p.L136L(1)		central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TACGTCTCCAGGAGGGCCAGG	0.657																																																	2	Substitution - coding silent(2)	kidney(2)											52.0	43.0	46.0					11																	2154815		2202	4299	6501	SO:0001819	synonymous_variant	3481			M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"""somatomedin A"""	147470	"""chromosome 11 open reading frame 43"""	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000416167.2:c.238C>T	11.37:g.2154815G>A			B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	Silent	SNP	ENST00000416167.2	37	CCDS7728.1																																																																																				0.657	IGF2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026053.2		NM_000612	
ILKAP	80895	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	239102922	239102922	+	Missense_Mutation	SNP	C	C	T	rs573048716		TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr2:239102922C>T	ENST00000254654.3	-	3	347	c.172G>A	c.(172-174)Gat>Aat	p.D58N	ILKAP_ENST00000490837.1_5'Flank	NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	58					protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.D58N(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TTACCTGAATCGCCACTGCTA	0.393													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18511	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											62.0	62.0	62.0					2																	239102922		2203	4300	6503	SO:0001583	missense	80895			AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	15566	protein-coding gene	gene with protein product			"""integrin-linked kinase-associated serine/threonine phosphatase 2C"""				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.172G>A	2.37:g.239102922C>T	ENSP00000254654:p.Asp58Asn		B3KM39	Missense_Mutation	SNP	ENST00000254654.3	37	CCDS2526.1	.	.	.	.	.	.	.	.	.	.	C	9.792	1.178200	0.21787	.	.	ENSG00000132323	ENST00000254654;ENST00000457149	T;T	0.46063	1.88;0.88	5.8	3.01	0.34805	.	0.765438	0.13092	N	0.414478	T	0.22437	0.0541	N	0.19112	0.55	0.27588	N	0.949363	B	0.06786	0.001	B	0.04013	0.001	T	0.27673	-1.0067	10	0.07813	T	0.8	4.0485	6.5203	0.22271	0.0:0.6533:0.0:0.3467	.	58	Q9H0C8	ILKAP_HUMAN	N	58	ENSP00000254654:D58N;ENSP00000395301:D58N	ENSP00000254654:D58N	D	-	1	0	ILKAP	238767661	0.160000	0.22878	0.599000	0.28851	0.977000	0.68977	0.934000	0.28910	0.779000	0.33543	0.650000	0.86243	GAT		0.393	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2		NM_030768	
ITGAL	3683	broad.mit.edu;hgsc.bcm.edu	37	16	30507854	30507854	+	Missense_Mutation	SNP	C	C	A			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr16:30507854C>A	ENST00000356798.6	+	15	1979	c.1799C>A	c.(1798-1800)gCt>gAt	p.A600D	RP11-297C4.1_ENST00000563751.1_RNA|ITGAL_ENST00000358164.5_Missense_Mutation_p.A517D|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	600					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)	p.A600D(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GCAGATGTGGCTGTGGGGGCT	0.527																																					NSCLC(110;1462 1641 3311 33990 49495)												1	Substitution - Missense(1)	kidney(1)											95.0	81.0	86.0					16																	30507854		2197	4300	6497	SO:0001583	missense	3683				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1799C>A	16.37:g.30507854C>A	ENSP00000349252:p.Ala600Asp		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330216	0.81690	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.55930	0.49;0.49	5.94	2.62	0.31277	.	0.448545	0.21331	N	0.076294	T	0.70395	0.3219	M	0.92026	3.265	0.80722	D	1	D;D	0.63880	0.993;0.987	P;P	0.59056	0.851;0.851	T	0.72906	-0.4150	10	0.87932	D	0	.	7.5666	0.27883	0.0:0.664:0.0:0.336	.	517;600	Q96HB1;P20701	.;ITAL_HUMAN	D	600;517	ENSP00000349252:A600D;ENSP00000350886:A517D	ENSP00000349252:A600D	A	+	2	0	ITGAL	30415355	0.051000	0.20477	1.000000	0.80357	0.948000	0.59901	0.799000	0.27028	0.832000	0.34804	0.563000	0.77884	GCT		0.527	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			
KDM6A	7403	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	44949174	44949174	+	Splice_Site	DEL	A	A	-			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chrX:44949174delA	ENST00000377967.4	+	25	3776	c.3735delA	c.(3733-3735)aca>ac	p.T1245fs	KDM6A_ENST00000536777.1_Splice_Site_p.T1200fs|KDM6A_ENST00000543216.1_Splice_Site_p.T1166fs|KDM6A_ENST00000382899.4_Splice_Site_p.T1252fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1245	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GTCCACTTACAGGTATTATAA	0.353			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											87.0	74.0	79.0					X																	44949174		2203	4300	6503	SO:0001630	splice_region_variant	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3736+1A>-	X.37:g.44949174delA			Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	ENST00000377967.4	37	CCDS14265.1																																																																																				0.353	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140	Frame_Shift_Del
TESPA1	9840	broad.mit.edu	37	12	55357546	55357546	+	Missense_Mutation	SNP	T	T	G			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr12:55357546T>G	ENST00000449076.1	-	8	767	c.635A>C	c.(634-636)gAc>gCc	p.D212A	TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000532804.1_Missense_Mutation_p.D74A|TESPA1_ENST00000531122.1_Missense_Mutation_p.D74A|TESPA1_ENST00000524622.1_Missense_Mutation_p.D74A|TESPA1_ENST00000316577.8_Missense_Mutation_p.D212A	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	212					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.D212A(1)|p.D74A(1)									GAGGCAGGGGTCTTCCATTTC	0.547																																																	2	Substitution - Missense(2)	kidney(2)											44.0	49.0	48.0					12																	55357546		1922	4122	6044	SO:0001583	missense	0			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.635A>C	12.37:g.55357546T>G	ENSP00000400892:p.Asp212Ala		B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	ENST00000449076.1	37	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.453602	0.84209	.	.	ENSG00000135426	ENST00000524622;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000532757;ENST00000531122;ENST00000526532	T;T;T;T;T	0.58210	0.35;0.35;0.38;0.38;0.35	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.61714	0.2369	L	0.43152	1.355	0.52099	D	0.999949	D	0.71674	0.998	P	0.60682	0.878	T	0.64609	-0.6367	10	0.72032	D	0.01	-13.4853	13.9255	0.63959	0.0:0.0:0.0:1.0	.	212	A2RU30	K0748_HUMAN	A	74;74;212;212;74;74;74	ENSP00000435622:D74A;ENSP00000432030:D74A;ENSP00000400892:D212A;ENSP00000312679:D212A;ENSP00000433098:D74A	ENSP00000312679:D212A	D	-	2	0	KIAA0748	53643813	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.186000	0.77722	2.330000	0.79161	0.533000	0.62120	GAC		0.547	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1		NM_001098815	
KIAA1244	57221	hgsc.bcm.edu	37	6	138657590	138657591	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr6:138657590_138657591delCA	ENST00000251691.4	+	34	6667_6668	c.6501_6502delCA	c.(6499-6504)ggcaggfs	p.R2168fs		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGTGGCTGGGCAGGGTGGGCCG	0.569																																																	0																																										SO:0001589	frameshift_variant	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.6501_6502delCA	6.37:g.138657590_138657591delCA	ENSP00000251691:p.Arg2168fs			Frame_Shift_Del	DEL	ENST00000251691.4	37	CCDS5189.2																																																																																				0.569	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4		NM_020340	
KIF4B	285643	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	154394675	154394675	+	Missense_Mutation	SNP	G	G	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr5:154394675G>T	ENST00000435029.4	+	1	1416	c.1256G>T	c.(1255-1257)aGg>aTg	p.R419M		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	419					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.R419M(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATGTTGGAGAGGATCATTTTG	0.478																																																	2	Substitution - Missense(2)	kidney(2)											134.0	136.0	135.0					5																	154394675		2203	4300	6503	SO:0001583	missense	285643			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1256G>T	5.37:g.154394675G>T	ENSP00000387875:p.Arg419Met			Missense_Mutation	SNP	ENST00000435029.4	37	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	12.45	1.940249	0.34283	.	.	ENSG00000226650	ENST00000435029	T	0.57752	0.38	1.61	0.706	0.18133	.	.	.	.	.	T	0.62048	0.2396	M	0.76838	2.35	0.43536	D	0.995824	D	0.67145	0.996	P	0.60886	0.88	T	0.60005	-0.7347	9	0.56958	D	0.05	.	3.8023	0.08763	0.4288:0.0:0.5712:0.0	.	419	Q2VIQ3	KIF4B_HUMAN	M	419	ENSP00000387875:R419M	ENSP00000387875:R419M	R	+	2	0	KIF4B	154374868	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	1.720000	0.38022	0.244000	0.21351	0.563000	0.77884	AGG		0.478	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			
KRT17	3872	hgsc.bcm.edu	37	17	39780391	39780392	+	Frame_Shift_Ins	INS	-	-	C	rs371097627		TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr17:39780391_39780392insC	ENST00000311208.8	-	1	437_438	c.370_371insG	c.(370-372)gccfs	p.A124fs	KRT42P_ENST00000438131.1_RNA|JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	124	Linker 1.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GGGCCCCGGGGCCTGCCTCTGG	0.639																																					Pancreas(92;1242 2086 39193 50508)												0																																										SO:0001589	frameshift_variant	3872			X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.371dupG	17.37:g.39780393_39780393dupC	ENSP00000308452:p.Ala124fs		A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Frame_Shift_Ins	INS	ENST00000311208.8	37	CCDS11402.1																																																																																				0.639	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1		NM_000422	
KRTAP19-6	337973	hgsc.bcm.edu	37	21	31913982	31913982	+	Frame_Shift_Del	DEL	G	G	-	rs5843453|rs201420116|rs570064399	byFrequency	TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr21:31913982delG	ENST00000334046.5	-	1	201	c.171delC	c.(169-171)ttcfs	p.F57fs		NM_181612.2	NP_853643.1	Q3LI70	KR196_HUMAN	keratin associated protein 19-6	57						intermediate filament (GO:0005882)				breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						TTTTTTAGTAGAATCCAGAGA	0.463													?|G|-|unsure	3942	0.787141	0.9266	0.7421	5008	,	,		17489	0.7034		0.7127	False		,,,				2504	0.7935																0													33.0	58.0	51.0					21																	31913982		1069	2843	3912	SO:0001589	frameshift_variant	337973			AP001708	CCDS13598.1	21q22.1	2010-09-30			ENSG00000186925	ENSG00000186925		"""Keratin associated proteins"""	18941	protein-coding gene	gene with protein product						12359730	Standard	NM_181612		Approved	KAP19.6	uc002yok.1	Q3LI70	OTTHUMG00000057779	ENST00000334046.5:c.171delC	21.37:g.31913982delG	ENSP00000375107:p.Phe57fs		Q3LI71	Frame_Shift_Del	DEL	ENST00000334046.5	37	CCDS13598.1																																																																																				0.463	KRTAP19-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128231.4			
KRTAP4-4	84616	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	39316569	39316569	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr17:39316569G>T	ENST00000390661.3	-	1	414	c.375C>A	c.(373-375)taC>taA	p.Y125*		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	125	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament (GO:0045095)		p.Y125*(1)		kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			TGGACACACAGTAGCTGGGGC	0.667																																																	1	Substitution - Nonsense(1)	kidney(1)											41.0	49.0	46.0					17																	39316569		2202	4297	6499	SO:0001587	stop_gained	84616			AJ406936	CCDS11383.1	17q21.2	2013-06-25			ENSG00000171396	ENSG00000171396		"""Keratin associated proteins"""	16928	protein-coding gene	gene with protein product			"""keratin associated protein 4-13"""	KRTAP4-13		11279113	Standard	NM_032524		Approved	KAP4.4, KAP4.13	uc002hwc.3	Q9BYR3	OTTHUMG00000133428	ENST00000390661.3:c.375C>A	17.37:g.39316569G>T	ENSP00000375076:p.Tyr125*		Q9BYU7	Nonsense_Mutation	SNP	ENST00000390661.3	37	CCDS11383.1	.	.	.	.	.	.	.	.	.	.	.	16.99	3.274262	0.59649	.	.	ENSG00000171396	ENST00000390661	.	.	.	5.48	1.65	0.23941	.	1.549040	0.04692	U	0.414286	.	.	.	.	.	.	0.48571	D	0.99967	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	8.0228	0.30419	0.3272:0.0:0.6728:0.0	.	.	.	.	X	125	.	ENSP00000375076:Y125X	Y	-	3	2	KRTAP4-4	36570095	1.000000	0.71417	0.003000	0.11579	0.028000	0.11728	2.893000	0.48633	0.067000	0.16545	0.650000	0.86243	TAC		0.667	KRTAP4-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257291.1			
LINS	55180	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	101109927	101109927	+	Missense_Mutation	SNP	G	G	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr15:101109927G>T	ENST00000314742.8	-	7	2012	c.1790C>A	c.(1789-1791)cCc>cAc	p.P597H	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	597								p.P597H(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TGGTTCAGAGGGAGCATCGGA	0.537																																																	1	Substitution - Missense(1)	kidney(1)											69.0	65.0	66.0					15																	101109927		2203	4300	6503	SO:0001583	missense	55180			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.1790C>A	15.37:g.101109927G>T	ENSP00000318423:p.Pro597His		Q96FW2|Q9NVQ3	Missense_Mutation	SNP	ENST00000314742.8	37	CCDS10385.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781562	0.49891	.	.	ENSG00000140471	ENST00000314742	T	0.09445	2.98	5.24	4.32	0.51571	.	0.644810	0.14911	N	0.291239	T	0.10594	0.0259	N	0.14661	0.345	0.38858	D	0.956412	P	0.49447	0.924	P	0.47941	0.562	T	0.19712	-1.0297	10	0.62326	D	0.03	-4.0621	12.318	0.54969	0.0788:0.0:0.9212:0.0	.	597	Q8NG48	LINES_HUMAN	H	597	ENSP00000318423:P597H	ENSP00000318423:P597H	P	-	2	0	LINS	98927450	0.536000	0.26378	0.003000	0.11579	0.175000	0.22909	1.959000	0.40412	1.199000	0.43173	0.591000	0.81541	CCC		0.537	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1		NM_018148	
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C	rs202014361	byFrequency	TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr10:47207813T>C	ENST00000452145.2	-	4	506	c.395A>G	c.(394-396)cAt>cGt	p.H132R	AGAP10_ENST00000413193.2_Splice_Site_p.H228R|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000355232.3_Splice_Site_p.H157R			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	132					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294																																																	20	Substitution - Missense(20)	endometrium(10)|prostate(4)|kidney(4)|urinary_tract(2)																																								SO:0001630	splice_region_variant	0			BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.396+1A>G	10.37:g.47207813T>C				RNA	SNP	ENST00000452145.2	37		.	.	.	.	.	.	.	.	.	.	t	0.012	-1.675265	0.00751	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;T;D	0.87966	-2.32;2.68;-2.32	1.4	1.4	0.22301	.	0.264128	0.34555	N	0.003879	T	0.72486	0.3466	.	.	.	0.20764	N	0.999856	B	0.22003	0.063	B	0.19666	0.026	T	0.55471	-0.8136	9	0.16896	T	0.51	.	6.9024	0.24291	0.0:0.0:0.0:1.0	.	132	Q5T2P9	AGA10_HUMAN	R	132;228;157	ENSP00000392206:H132R;ENSP00000407436:H228R;ENSP00000347372:H157R	ENSP00000347372:H157R	H	-	2	0	AGAP10	46627819	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.704000	0.54815	0.898000	0.36418	0.163000	0.16589	CAT		0.294	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2		XM_001714786.2	Missense_Mutation
NRROS	375387	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	196388312	196388313	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr3:196388312_196388313GG>AT	ENST00000328557.4	+	3	2001_2002	c.1798_1799GG>AT	c.(1798-1800)GGg>ATg	p.G600M		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	600					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G600V(2)|p.G600R(1)									TGACTGCTGTGGGGTGGATGGC	0.609																																																	3	Substitution - Missense(3)	lung(2)|kidney(1)																																								SO:0001583	missense	375387			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	Exception_encountered	3.37:g.196388312_196388313delinsAT	ENSP00000328625:p.Gly600Met			Missense_Mutation	SNP	ENST00000328557.4	37	CCDS3319.1																																																																																				0.609	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1		NM_198565	
MEPCE	56257	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	100031142	100031142	+	Missense_Mutation	SNP	T	T	A			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr7:100031142T>A	ENST00000310512.2	+	4	2423	c.2035T>A	c.(2035-2037)Tac>Aac	p.Y679N	RP11-758P17.2_ENST00000492523.1_RNA|RP11-758P17.3_ENST00000475250.1_RNA|MEPCE_ENST00000414441.1_Missense_Mutation_p.Y210N|PPP1R35_ENST00000476185.1_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	679	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.Y679N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCGTCCTGTGTACCTGTTCCA	0.587																																																	1	Substitution - Missense(1)	kidney(1)											70.0	70.0	70.0					7																	100031142		2203	4300	6503	SO:0001583	missense	56257			AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.2035T>A	7.37:g.100031142T>A	ENSP00000308546:p.Tyr679Asn		B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	T	18.89	3.719543	0.68844	.	.	ENSG00000146834	ENST00000414441;ENST00000425355;ENST00000310512	.	.	.	5.29	4.13	0.48395	Bin3-type S-adenosyl-L-methionine binding domain (1);Bicoid-interacting 3 (1);	0.158139	0.44097	D	0.000482	T	0.68751	0.3035	M	0.68317	2.08	0.45076	D	0.998099	D	0.89917	1.0	D	0.72338	0.977	T	0.66555	-0.5894	9	0.37606	T	0.19	-27.2854	7.628	0.28222	0.0:0.0943:0.0:0.9057	.	679	Q7L2J0	MEPCE_HUMAN	N	210;210;679	.	ENSP00000308546:Y679N	Y	+	1	0	MEPCE	99869078	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.413000	0.73308	1.028000	0.39785	0.379000	0.24179	TAC		0.587	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			
MTMR4	9110	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	56589825	56589825	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr17:56589825C>T	ENST00000323456.5	-	4	260	c.136G>A	c.(136-138)Ggc>Agc	p.G46S	MTMR4_ENST00000579925.1_Missense_Mutation_p.G46S	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	46					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.G46S(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTGCCCGGCCCAGGAACTCT	0.522																																																	1	Substitution - Missense(1)	kidney(1)											63.0	59.0	60.0					17																	56589825		2203	4300	6503	SO:0001583	missense	9110			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.136G>A	17.37:g.56589825C>T	ENSP00000325285:p.Gly46Ser		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674212	0.67928	.	.	ENSG00000108389	ENST00000323456	T	0.46819	0.86	5.51	5.51	0.81932	.	0.105320	0.64402	D	0.000004	T	0.70911	0.3278	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74044	-0.3791	10	0.72032	D	0.01	.	17.9791	0.89136	0.0:1.0:0.0:0.0	.	46	Q9NYA4	MTMR4_HUMAN	S	46	ENSP00000325285:G46S	ENSP00000325285:G46S	G	-	1	0	MTMR4	53944824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.343000	0.79319	2.595000	0.87683	0.561000	0.74099	GGC		0.522	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1		NM_004687	
NBEA	26960	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	35770236	35770236	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr13:35770236delT	ENST00000400445.3	+	31	5697	c.5163delT	c.(5161-5163)aatfs	p.N1721fs	NBEA_ENST00000379939.2_Frame_Shift_Del_p.N1718fs|NBEA_ENST00000540320.1_Frame_Shift_Del_p.N1721fs|NBEA_ENST00000310336.4_Frame_Shift_Del_p.N1721fs	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1721					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAACTGAAAATCCTAGTGAAA	0.423																																																	0													87.0	85.0	86.0					13																	35770236		1887	4139	6026	SO:0001589	frameshift_variant	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.5163delT	13.37:g.35770236delT	ENSP00000383295:p.Asn1721fs		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Frame_Shift_Del	DEL	ENST00000400445.3	37	CCDS45026.1																																																																																				0.423	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_015678	
NCKAP5L	57701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	50190216	50190216	+	Missense_Mutation	SNP	A	A	C			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr12:50190216A>C	ENST00000335999.6	-	8	1628	c.1427T>G	c.(1426-1428)cTc>cGc	p.L476R		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	472	Pro-rich.							p.L67R(1)|p.L476R(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CTGGGGACTGAGCTGCGGGCC	0.652																																																	2	Substitution - Missense(2)	kidney(2)											12.0	15.0	14.0					12																	50190216		1937	4133	6070	SO:0001583	missense	57701			AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.1427T>G	12.37:g.50190216A>C	ENSP00000337998:p.Leu476Arg		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	A	16.01	3.001640	0.54254	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	T	0.72394	-0.65	4.42	3.27	0.37495	.	0.000000	0.37669	N	0.001989	T	0.72645	0.3486	L	0.32530	0.975	0.53005	D	0.999961	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.71849	-0.4468	10	0.46703	T	0.11	-18.0179	8.6756	0.34176	0.9059:0.0:0.0941:0.0	.	472;472	E2QRB5;Q9HCH0-2	.;.	R	476;472	ENSP00000337998:L476R	ENSP00000337998:L476R	L	-	2	0	NCKAP5L	48476483	0.997000	0.39634	1.000000	0.80357	0.876000	0.50452	0.738000	0.26158	1.789000	0.52484	0.459000	0.35465	CTC		0.652	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2		XM_035497	
NFE2L2	4780	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	178098799	178098799	+	Missense_Mutation	SNP	T	T	G			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr2:178098799T>G	ENST00000397062.3	-	2	800	c.246A>C	c.(244-246)gaA>gaC	p.E82D	NFE2L2_ENST00000397063.4_Missense_Mutation_p.E66D|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E66D|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E66D|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E66D	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	82					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E82D(8)|p.G81_F83delGEF(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TTGGGAGAAATTCACCTGTCT	0.433			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	9	Substitution - Missense(8)|Deletion - In frame(1)	endometrium(3)|liver(2)|upper_aerodigestive_tract(1)|cervix(1)|oesophagus(1)|kidney(1)											138.0	137.0	137.0					2																	178098799		1903	4104	6007	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.246A>C	2.37:g.178098799T>G	ENSP00000380252:p.Glu82Asp		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.706902	0.89018	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.67;1.67;1.53	5.78	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	M	0.87180	2.865	0.54753	D	0.999981	D;D;D;D	0.89917	0.999;0.997;1.0;0.999	D;D;D;D	0.83275	0.991;0.978;0.996;0.991	T	0.64976	-0.6280	10	0.72032	D	0.01	.	11.2269	0.48888	0.0:0.0712:0.0:0.9288	.	66;66;66;82	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	D	66;82;66;66;66;66	ENSP00000380253:E66D;ENSP00000380252:E82D;ENSP00000411575:E66D;ENSP00000400073:E66D;ENSP00000412191:E66D;ENSP00000410015:E66D	ENSP00000380252:E82D	E	-	3	2	NFE2L2	177807045	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.909000	0.39917	2.210000	0.71456	0.460000	0.39030	GAA		0.433	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4		NM_006164	
NFRKB	4798	hgsc.bcm.edu	37	11	129743673	129743674	+	Frame_Shift_Ins	INS	-	-	G	rs140340409		TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr11:129743673_129743674insG	ENST00000446488.3	-	21	2619_2620	c.2516_2517insC	c.(2515-2517)ccafs	p.P839fs	NFRKB_ENST00000524794.1_Frame_Shift_Ins_p.P864fs|NFRKB_ENST00000524746.1_Frame_Shift_Ins_p.P839fs|NFRKB_ENST00000304521.5_Frame_Shift_Ins_p.P839fs	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	839					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TGGCAGTGGCTGGAACCCGGAT	0.614																																																	0																																										SO:0001589	frameshift_variant	4798				CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.2517dupC	11.37:g.129743675_129743675dupG	ENSP00000400476:p.Pro839fs		Q12869|Q15312|Q9H048	Frame_Shift_Ins	INS	ENST00000446488.3	37	CCDS44770.1																																																																																				0.614	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2		NM_006165	
NPR2	4882	broad.mit.edu	37	9	35792438	35792438	+	Silent	SNP	A	A	G			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr9:35792438A>G	ENST00000342694.2	+	1	288	c.33A>G	c.(31-33)gcA>gcG	p.A11A		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	11					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.A11A(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TGTTGGTGGCAGCCCTGGCAG	0.682																																																	2	Substitution - coding silent(2)	kidney(2)											20.0	23.0	22.0					9																	35792438		2200	4299	6499	SO:0001819	synonymous_variant	4882			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.33A>G	9.37:g.35792438A>G			B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Silent	SNP	ENST00000342694.2	37	CCDS6590.1																																																																																				0.682	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			
OC90	729330	hgsc.bcm.edu	37	8	133036893	133036894	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr8:133036893_133036894insG	ENST00000443356.2	-	15	1402_1403	c.1316_1317insC	c.(1315-1317)gcafs	p.A439fs	OC90_ENST00000603859.1_Frame_Shift_Ins_p.A423fs|OC90_ENST00000254627.3_Frame_Shift_Ins_p.A423fs|OC90_ENST00000262283.5_Frame_Shift_Ins_p.A635fs			Q02509	OC90_HUMAN	otoconin 90	439	Phospholipase A2-like 3.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CTTCACAGGCTGCTGGCTGCCC	0.649																																																	0																																										SO:0001589	frameshift_variant	729330			Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.1317dupC	8.37:g.133036894_133036894dupG	ENSP00000390050:p.Ala439fs		B4DNG8	Frame_Shift_Ins	INS	ENST00000443356.2	37																																																																																					0.649	OC90-201	KNOWN	basic	protein_coding	protein_coding			NM_001080399	
ODF3L1	161753	hgsc.bcm.edu;ucsc.edu	37	15	76019407	76019407	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr15:76019407delC	ENST00000332145.2	+	4	574	c.351delC	c.(349-351)aacfs	p.N117fs	DNM1P35_ENST00000501931.1_RNA	NM_175881.3	NP_787077.1	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	117										kidney(1)|lung(1)	2						CAGGCCTGAACCCCACCCTCG	0.592																																																	0													102.0	117.0	112.0					15																	76019407		2195	4291	6486	SO:0001589	frameshift_variant	161753			BC039862	CCDS10285.1	15q23	2008-02-05			ENSG00000182950	ENSG00000182950			28735	protein-coding gene	gene with protein product							Standard	NM_175881		Approved	MGC48986	uc002bax.1	Q8IXM7	OTTHUMG00000142837	ENST00000332145.2:c.351delC	15.37:g.76019407delC	ENSP00000329584:p.Asn117fs			Frame_Shift_Del	DEL	ENST00000332145.2	37	CCDS10285.1																																																																																				0.592	ODF3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286473.1		NM_175881	
TENM1	10178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	123839011	123839011	+	Silent	SNP	C	C	T	rs191615019		TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chrX:123839011C>T	ENST00000371130.3	-	5	930	c.867G>A	c.(865-867)tcG>tcA	p.S289S	TENM1_ENST00000422452.2_Silent_p.S289S	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	289	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S291S(1)									TGGGAGGGGGCGAGTACACGG	0.517													C|||	1	0.000264901	0.0	0.0014	3775	,	,		13148	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)											136.0	125.0	129.0					X																	123839011		2203	4300	6503	SO:0001819	synonymous_variant	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.867G>A	X.37:g.123839011C>T			B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	CCDS14609.1																																																																																				0.517	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1		NM_014253	
OGFR	11054	broad.mit.edu	37	20	61442846	61442846	+	Silent	SNP	G	G	A			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr20:61442846G>A	ENST00000290291.6	+	6	523	c.498G>A	c.(496-498)cgG>cgA	p.R166R	OGFR_ENST00000370461.1_Silent_p.R114R	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	166					opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					TCCAGGAGCGGCTTGTCCGGG	0.632																																																	0													19.0	22.0	21.0					20																	61442846		2194	4294	6488	SO:0001819	synonymous_variant	11054			AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.498G>A	20.37:g.61442846G>A			O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Silent	SNP	ENST00000290291.6	37	CCDS13504.1	.	.	.	.	.	.	.	.	.	.	G	0.826	-0.746779	0.03065	.	.	ENSG00000060491	ENST00000370469	.	.	.	4.56	-0.48	0.12085	.	.	.	.	.	T	0.58878	0.2153	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59177	-0.7503	5	0.87932	D	0	-32.982	5.7837	0.18320	0.2883:0.0:0.575:0.1366	.	.	.	.	D	22	.	ENSP00000359500:G22D	G	+	2	0	OGFR	60913291	0.755000	0.28372	0.080000	0.20451	0.014000	0.08584	-0.051000	0.11885	0.097000	0.17492	-0.254000	0.11334	GGC		0.632	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			
OR2W3	343171	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	248059095	248059095	+	Silent	SNP	G	G	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr1:248059095G>T	ENST00000360358.3	+	1	207	c.207G>T	c.(205-207)ctG>ctT	p.L69L	OR2W3_ENST00000537741.1_Silent_p.L69L	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L69L(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTTCCTTCCTGGACCTCAGTT	0.577																																																	1	Substitution - coding silent(1)	kidney(1)											202.0	159.0	174.0					1																	248059095		2203	4300	6503	SO:0001819	synonymous_variant	343171			N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.207G>T	1.37:g.248059095G>T			Q6IF06|Q8NG86	Silent	SNP	ENST00000360358.3	37	CCDS31099.1																																																																																				0.577	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1		NM_001001957	
PDGFRB	5159	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	149499609	149499609	+	Silent	SNP	G	G	A			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr5:149499609G>A	ENST00000261799.4	-	19	3133	c.2664C>T	c.(2662-2664)tcC>tcT	p.S888S		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	888	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.S888S(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGATCCCGAAGGACCACACGT	0.567			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																			Dom	yes		5	5q31-q32	5159	"""platelet-derived growth factor receptor, beta polypeptide"""		L	1	Substitution - coding silent(1)	kidney(1)											130.0	106.0	114.0					5																	149499609		2203	4300	6503	SO:0001819	synonymous_variant	5159			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2664C>T	5.37:g.149499609G>A			B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	CCDS4303.1																																																																																				0.567	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1		NM_002609	
POLDIP3	84271	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	42992339	42992339	+	Silent	SNP	G	G	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr22:42992339G>T	ENST00000252115.5	-	5	770	c.666C>A	c.(664-666)tcC>tcA	p.S222S	POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000451060.2_Silent_p.S66S|POLDIP3_ENST00000348657.2_Silent_p.S193S|POLDIP3_ENST00000339677.6_Intron	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	222					poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S222S(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						GGAGGGCCTTGGACATGGAAA	0.498																																					Ovarian(52;967 1128 5875 19997 42537)												1	Substitution - coding silent(1)	kidney(1)											112.0	102.0	105.0					22																	42992339		2203	4300	6503	SO:0001819	synonymous_variant	84271				CCDS14038.1, CCDS14039.1, CCDS74873.1	22q13.31	2013-02-12			ENSG00000100227	ENSG00000100227		"""RNA binding motif (RRM) containing"""	23782	protein-coding gene	gene with protein product		611520				12522211	Standard	NM_032311		Approved	PDIP46, KIAA1649	uc003bcu.3	Q9BY77	OTTHUMG00000150887	ENST00000252115.5:c.666C>A	22.37:g.42992339G>T			A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	Silent	SNP	ENST00000252115.5	37	CCDS14038.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281036	0.23392	.	.	ENSG00000100227	ENST00000452567	.	.	.	5.82	1.14	0.20703	.	.	.	.	.	T	0.64249	0.2581	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63699	-0.6578	5	0.72032	D	0.01	-0.0148	9.8444	0.41017	0.0:0.2349:0.41:0.3551	.	.	.	.	Q	157	.	ENSP00000394315:P157Q	P	-	2	0	POLDIP3	41322283	1.000000	0.71417	0.864000	0.33941	0.974000	0.67602	0.493000	0.22451	0.054000	0.16065	0.563000	0.77884	CCA		0.498	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320433.1		NM_032311	
POLI	11201	hgsc.bcm.edu	37	18	51795958	51795960	+	In_Frame_Del	DEL	CGA	CGA	-	rs78943519|rs10584411|rs3729509	byFrequency	TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	CGA	CGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr18:51795958_51795960delCGA	ENST00000579534.1	+	1	185_187	c.42_44delCGA	c.(40-45)ggcgac>ggc	p.D17del	POLI_ENST00000579434.1_5'UTR|POLI_ENST00000217800.5_5'Flank|POLI_ENST00000406285.3_In_Frame_Del_p.D17del	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	17					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.D17delD(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAGGCGGCGGCGACGACGACGAG	0.729								DNA polymerases (catalytic subunits)						3926	0.783946	0.9705	0.6427	5008	,	,		12312	0.7054		0.7078	False		,,,				2504	0.7914																1	Deletion - In frame(1)	large_intestine(1)								3523,343		1644,235,54						1.5	0.0		dbSNP_119	14	5235,2405		1985,1265,570	no	coding	POLI	NM_007195.2		3629,1500,624	A1A1,A1R,RR		31.4791,8.8722,23.8832				8758,2748				SO:0001651	inframe_deletion	11201				CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.42_44delCGA	18.37:g.51795967_51795969delCGA	ENSP00000462664:p.Asp17del		Q8N590|Q9H0S1|Q9NYH6	In_Frame_Del	DEL	ENST00000579534.1	37	CCDS11954.2																																																																																				0.729	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3		NM_007195	
POLR1A	25885	hgsc.bcm.edu	37	2	86272423	86272424	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr2:86272423_86272424insG	ENST00000263857.6	-	21	3324_3325	c.2946_2947insC	c.(2944-2949)accagcfs	p.S983fs	POLR1A_ENST00000409681.1_Frame_Shift_Ins_p.S983fs			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	983					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CCTGAGCGGCTGGTTTTCACAG	0.545																																																	0																																										SO:0001589	frameshift_variant	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.2947dupC	2.37:g.86272425_86272425dupG	ENSP00000263857:p.Ser983fs		B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Frame_Shift_Ins	INS	ENST00000263857.6	37	CCDS42706.1																																																																																				0.545	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2		NM_015425	
PRB1	5542	broad.mit.edu	37	12	11506582	11506582	+	Intron	SNP	C	C	T	rs199764037	byFrequency	TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr12:11506582C>T	ENST00000500254.2	-	3	351				PRB1_ENST00000546254.1_Intron|PRB1_ENST00000545626.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGAGGAGATCAGGGACTTCG	0.607													c|||	244	0.048722	0.0401	0.0692	5008	,	,		14218	0.0288		0.0527	False		,,,				2504	0.0624																0													12.0	7.0	9.0					12																	11506582		1190	2026	3216	SO:0001627	intron_variant	5542				CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.313+141G>A	12.37:g.11506582C>T			Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Splice_Site	SNP	ENST00000500254.2	37	CCDS8642.1																																																																																				0.607	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1		NM_005039	
PRTG	283659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	55912369	55912369	+	Silent	SNP	T	T	A			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr15:55912369T>A	ENST00000389286.4	-	20	3341	c.3294A>T	c.(3292-3294)acA>acT	p.T1098T		NM_173814.4	NP_776175.2			protogenin									p.T1098T(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AGAAGCTGGTTGTCTGACCTG	0.498																																																	1	Substitution - coding silent(1)	kidney(1)											111.0	110.0	110.0					15																	55912369		1889	4111	6000	SO:0001819	synonymous_variant	283659			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.3294A>T	15.37:g.55912369T>A				Silent	SNP	ENST00000389286.4	37	CCDS42040.1																																																																																				0.498	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1		NM_173814	
PVRL2	5819	hgsc.bcm.edu	37	19	45391485	45391486	+	Frame_Shift_Ins	INS	-	-	C	rs146573265		TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr19:45391485_45391486insC	ENST00000252483.5	+	9	1466_1467	c.1466_1467insC	c.(1465-1470)gacgttfs	p.V490fs	CTB-129P6.4_ENST00000585408.1_RNA|TOMM40_ENST00000405636.2_5'Flank|TOMM40_ENST00000252487.5_5'Flank	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	490					acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GCTGTGGAAGACGTTTCCCTGG	0.599																																																	0																																										SO:0001589	frameshift_variant	5819			X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1467dupC	19.37:g.45391486_45391486dupC	ENSP00000252483:p.Val490fs		A8K5L5|O75455|Q6IBI6|Q96J29	Frame_Shift_Ins	INS	ENST00000252483.5	37	CCDS42576.1																																																																																				0.599	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1		NM_002856	
RPN1	6184	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	128350832	128350832	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr3:128350832T>A	ENST00000296255.3	-	4	850	c.802A>T	c.(802-804)Aga>Tga	p.R268*	RPN1_ENST00000497289.1_Nonsense_Mutation_p.R96*	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	268					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)	p.R268*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		TCTGGCTGTCTCTGGTAATCA	0.428			T	EVI1	AML																																			Dom	yes		3	3q21.3-q25.2	6184	ribophorin I		L	1	Substitution - Nonsense(1)	kidney(1)											133.0	121.0	125.0					3																	128350832		2203	4300	6503	SO:0001587	stop_gained	6184				CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 1 homolog (S. cerevisiae)"", ""oligosaccharyltransferase complex subunit (non-catalytic)"""	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.802A>T	3.37:g.128350832T>A	ENSP00000296255:p.Arg268*		B2R5Z0|D3DNB6|Q68DT1	Nonsense_Mutation	SNP	ENST00000296255.3	37	CCDS3051.1	.	.	.	.	.	.	.	.	.	.	T	28.5	4.926165	0.92319	.	.	ENSG00000163902	ENST00000296255;ENST00000497289;ENST00000537139;ENST00000545956	.	.	.	4.86	3.62	0.41486	.	0.052433	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.1119	10.3862	0.44140	0.0:0.0:0.3052:0.6948	.	.	.	.	X	268;96;39;242	.	ENSP00000296255:R268X	R	-	1	2	RPN1	129833522	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.375000	0.34295	1.820000	0.53075	0.402000	0.26972	AGA		0.428	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356934.2		NM_002950	
RPS20	6224	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	56986629	56986629	+	Silent	SNP	G	G	A			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr8:56986629G>A	ENST00000521262.1	-	2	346	c.93C>T	c.(91-93)tcC>tcT	p.S31S	RPS20_ENST00000009589.3_Silent_p.S31S|CTA-397H3.3_ENST00000521403.1_RNA|RPS20_ENST00000519807.1_Silent_p.S31S|RPS20_ENST00000520490.1_5'UTR|RPS20_ENST00000518875.1_Silent_p.S31S|RPS20_ENST00000523936.1_Silent_p.S31S|RPS20_ENST00000524349.1_5'UTR|RPS20_ENST00000519606.1_Silent_p.S31S|SNORD54_ENST00000459159.1_RNA|RPS20_ENST00000520627.1_Intron			P60866	RS20_HUMAN	ribosomal protein S20	31					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.S31S(2)					all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			CCTTTTCCAAGGATTTTACGT	0.488																																																	2	Substitution - coding silent(2)	kidney(2)											81.0	87.0	85.0					8																	56986629		2203	4300	6503	SO:0001819	synonymous_variant	6224			L06498	CCDS6163.1, CCDS55231.1	8q12.1	2011-04-05				ENSG00000008988		"""S ribosomal proteins"""	10405	protein-coding gene	gene with protein product		603682				9582194, 8479924	Standard	NM_001023		Approved	S20	uc003xsm.2	P60866		ENST00000521262.1:c.93C>T	8.37:g.56986629G>A			B2R4F4|B4DW28|P17075|Q5M8S9	Silent	SNP	ENST00000521262.1	37																																																																																					0.488	RPS20-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000378166.1		NM_001023	
RTN2	6253	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	45996518	45996518	+	Silent	SNP	G	G	A	rs539287856	byFrequency	TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr19:45996518G>A	ENST00000245923.4	-	5	1168	c.933C>T	c.(931-933)acC>acT	p.T311T	RTN2_ENST00000589384.1_5'Flank|RTN2_ENST00000344680.4_Intron|RTN2_ENST00000430715.2_5'UTR|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000590526.1_Silent_p.T37T	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	311					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)		p.T311T(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GAGTAGGGGGGGTGGGGCCCC	0.552													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15092	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)											56.0	66.0	63.0					19																	45996518		2203	4300	6503	SO:0001819	synonymous_variant	6253			AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.933C>T	19.37:g.45996518G>A			O60509|Q7RTM6|Q7RTN1|Q7RTN2	Silent	SNP	ENST00000245923.4	37	CCDS12665.1																																																																																				0.552	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1		NM_005619	
SEC31A	22872	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	83788377	83788377	+	Silent	SNP	A	A	G			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr4:83788377A>G	ENST00000395310.2	-	9	1157	c.975T>C	c.(973-975)gaT>gaC	p.D325D	SEC31A_ENST00000505472.1_Silent_p.D325D|SEC31A_ENST00000508502.1_Silent_p.D325D|SEC31A_ENST00000513858.1_Silent_p.D325D|SEC31A_ENST00000508479.1_Silent_p.D325D|SEC31A_ENST00000509142.1_Silent_p.D325D|SEC31A_ENST00000505984.1_Silent_p.D325D|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000355196.2_Silent_p.D325D|SEC31A_ENST00000348405.4_Silent_p.D325D|SEC31A_ENST00000500777.2_Silent_p.D325D|SEC31A_ENST00000443462.2_Silent_p.D320D|SEC31A_ENST00000311785.7_Silent_p.D325D|SEC31A_ENST00000432794.1_Silent_p.D325D|SEC31A_ENST00000326950.5_Silent_p.D325D|SEC31A_ENST00000448323.1_Silent_p.D325D|SEC31A_ENST00000264405.5_Silent_p.D97D	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	325	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)	p.D325D(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TGATACGCCCATCAAACGAAG	0.418																																																	2	Substitution - coding silent(2)	kidney(2)											130.0	115.0	120.0					4																	83788377		2203	4300	6503	SO:0001819	synonymous_variant	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.975T>C	4.37:g.83788377A>G			B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	ENST00000395310.2	37	CCDS3596.1																																																																																				0.418	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1		NM_016211	
SIX3	6496	broad.mit.edu;hgsc.bcm.edu	37	2	45171737	45171737	+	Silent	SNP	C	C	A			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr2:45171737C>A	ENST00000260653.3	+	2	1179	c.837C>A	c.(835-837)ggC>ggA	p.G279G	SIX3-AS1_ENST00000419364.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	279					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GACCGAGCGGCATGCGCTCGC	0.756																																																	0													5.0	6.0	6.0					2																	45171737		1688	3619	5307	SO:0001819	synonymous_variant	6496			AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"""Homeoboxes / SINE class"""	10889	protein-coding gene	gene with protein product		603714	"""holoprosencephaly 2, alobar or semilobar"", ""sine oculis homeobox homolog 3 (Drosophila)"""	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.837C>A	2.37:g.45171737C>A			D6W5A5|Q53T42	Silent	SNP	ENST00000260653.3	37	CCDS1821.1																																																																																				0.756	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326192.1		NM_005413	
SKIL	6498	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	170110164	170110164	+	Missense_Mutation	SNP	A	A	C			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr3:170110164A>C	ENST00000458537.3	+	6	2723	c.2014A>C	c.(2014-2016)Aag>Cag	p.K672Q	SKIL_ENST00000426052.2_Missense_Mutation_p.K652Q|SKIL_ENST00000413427.2_Missense_Mutation_p.K626Q|SKIL_ENST00000259119.4_Missense_Mutation_p.K672Q	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	672					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)	p.K672Q(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AAAAGAGCTAAAGCTGCAAAT	0.388																																																	1	Substitution - Missense(1)	kidney(1)											103.0	112.0	109.0					3																	170110164		2203	4300	6503	SO:0001583	missense	6498			X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.2014A>C	3.37:g.170110164A>C	ENSP00000415243:p.Lys672Gln		A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	ENST00000458537.3	37	CCDS33890.1	.	.	.	.	.	.	.	.	.	.	A	12.85	2.061893	0.36373	.	.	ENSG00000136603	ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	D;D;D;D	0.91740	-2.88;-2.87;-2.9;-2.88	6.08	6.08	0.98989	.	0.100625	0.64402	D	0.000002	D	0.93032	0.7782	L	0.43152	1.355	0.39731	D	0.971613	D;D	0.56746	0.977;0.973	D;P	0.64144	0.922;0.496	D	0.90500	0.4473	10	0.09843	T	0.71	-21.8245	16.6438	0.85155	1.0:0.0:0.0:0.0	.	626;672	P12757-3;P12757	.;SKIL_HUMAN	Q	672;652;626;672	ENSP00000259119:K672Q;ENSP00000406520:K652Q;ENSP00000400193:K626Q;ENSP00000415243:K672Q	ENSP00000259119:K672Q	K	+	1	0	SKIL	171592858	1.000000	0.71417	0.962000	0.40283	0.988000	0.76386	5.067000	0.64357	2.333000	0.79357	0.533000	0.62120	AAG		0.388	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4		NM_005414	
SMARCAD1	56916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	95199614	95199614	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr4:95199614A>G	ENST00000354268.4	+	17	2197	c.2124A>G	c.(2122-2124)atA>atG	p.I708M	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.I708M|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.I278M			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	708					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.I708M(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		AGGAGAGAATAGCACATGCAA	0.264																																																	1	Substitution - Missense(1)	kidney(1)											44.0	52.0	49.0					4																	95199614		2188	4283	6471	SO:0001583	missense	56916			AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2124A>G	4.37:g.95199614A>G	ENSP00000346217:p.Ile708Met		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	A	16.79	3.221272	0.58560	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2	5.55	2.92	0.33932	SNF2-related (1);	0.000000	0.53938	D	0.000041	D	0.95978	0.8690	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.95440	0.8524	10	0.72032	D	0.01	-26.2492	10.4475	0.44503	0.5609:0.0:0.0:0.4391	.	708;708	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	M	708;708;708;278	ENSP00000351947:I708M;ENSP00000415576:I708M;ENSP00000346217:I708M;ENSP00000423286:I278M	ENSP00000346217:I708M	I	+	3	3	SMARCAD1	95418637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.836000	0.27545	0.914000	0.36822	0.528000	0.53228	ATA		0.264	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1		NM_020159	
SORBS2	8470	hgsc.bcm.edu;ucsc.edu	37	4	186545056	186545067	+	In_Frame_Del	DEL	CATGTCCCGGGG	CATGTCCCGGGG	-	rs532835164|rs141059121		TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	CATGTCCCGGGG	CATGTCCCGGGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr4:186545056_186545067delCATGTCCCGGGG	ENST00000284776.7	-	13	2013_2024	c.1504_1515delCCCCGGGACATG	c.(1504-1515)ccccgggacatgdel	p.PRDM502del	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000431808.1_In_Frame_Del_p.PRDM502del|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.PRDM406del|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.PRDM602del|SORBS2_ENST00000498125.1_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	502					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GTGTGGGCACCATGTCCCGGGGCACCTCCTCC	0.575																																					Esophageal Squamous(153;41 2433 9491 36028)												0																																										SO:0001651	inframe_deletion	8470				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1504_1515delCCCCGGGACATG	4.37:g.186545056_186545067delCATGTCCCGGGG	ENSP00000284776:p.Pro502_Met505del		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	In_Frame_Del	DEL	ENST00000284776.7	37	CCDS3845.1																																																																																				0.575	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3		NM_003603	
SSTR4	6754	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	23016583	23016583	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr20:23016583G>A	ENST00000255008.3	+	1	527	c.463G>A	c.(463-465)Gcg>Acg	p.A155T	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	155					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|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 cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCTGCGCGCGGCGACCTACCG	0.657																																					Esophageal Squamous(15;850 1104 16640)												0													48.0	52.0	50.0					20																	23016583		2200	4294	6494	SO:0001583	missense	6754				CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.463G>A	20.37:g.23016583G>A	ENSP00000255008:p.Ala155Thr		Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558611	0.27827	.	.	ENSG00000132671	ENST00000255008	T	0.71934	-0.61	3.87	1.69	0.24217	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000009	T	0.58552	0.2130	L	0.41906	1.305	0.43187	D	0.995016	B	0.33379	0.41	B	0.37091	0.241	T	0.46665	-0.9175	10	0.30078	T	0.28	.	7.7421	0.28848	0.2367:0.0:0.7633:0.0	.	155	P31391	SSR4_HUMAN	T	155	ENSP00000255008:A155T	ENSP00000255008:A155T	A	+	1	0	SSTR4	22964583	0.995000	0.38212	0.013000	0.15412	0.023000	0.10783	2.270000	0.43355	0.227000	0.20999	0.655000	0.94253	GCG		0.657	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			
SYBU	55638	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	110598354	110598354	+	Silent	SNP	G	G	A			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr8:110598354G>A	ENST00000422135.1	-	5	980	c.465C>T	c.(463-465)ggC>ggT	p.G155G	SYBU_ENST00000424158.2_Silent_p.G160G|SYBU_ENST00000533065.1_Silent_p.G36G|SYBU_ENST00000533171.1_Silent_p.G155G|SYBU_ENST00000446070.2_Silent_p.G154G|SYBU_ENST00000408908.2_Silent_p.G155G|SYBU_ENST00000532779.1_Silent_p.G87G|SYBU_ENST00000528647.1_Silent_p.G154G|SYBU_ENST00000440310.1_Silent_p.G155G|SYBU_ENST00000528331.1_Silent_p.G36G|SYBU_ENST00000533895.1_Silent_p.G154G|SYBU_ENST00000529690.1_Silent_p.G25G|SYBU_ENST00000433638.1_Silent_p.G155G|SYBU_ENST00000399066.3_Silent_p.G152G|SYBU_ENST00000276646.9_Silent_p.G155G|SYBU_ENST00000408889.3_Silent_p.G36G|SYBU_ENST00000419099.1_Silent_p.G154G	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	155	Ser-rich.|Sufficient for interaction with KIF5B.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.G152G(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CGGAAATGCTGCCTGTGCTGC	0.507																																																	1	Substitution - coding silent(1)	kidney(1)											64.0	63.0	63.0					8																	110598354		1980	4170	6150	SO:0001819	synonymous_variant	55638			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.465C>T	8.37:g.110598354G>A			A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Silent	SNP	ENST00000422135.1	37	CCDS47912.1																																																																																				0.507	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1		NM_017786	
HIRIP3	8479	hgsc.bcm.edu	37	16	30002435	30002436	+	IGR	INS	-	-	G			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr16:30002435_30002436insG	ENST00000279392.3	-	0	3385				TAOK2_ENST00000279394.3_Frame_Shift_Ins_p.A900fs	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3						chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CTTGAGCGGCAGGCCCGTGAGA	0.649																																																	0																																										SO:0001628	intergenic_variant	9344			AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118		16.37:g.30002437_30002437dupG			H3BSR3|O75707|O75708	Frame_Shift_Ins	INS	ENST00000279392.3	37	CCDS10664.1																																																																																				0.649	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2		NM_003609	
TBX10	347853	broad.mit.edu	37	11	67401787	67401787	+	Missense_Mutation	SNP	T	T	G			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr11:67401787T>G	ENST00000335385.3	-	4	509	c.422A>C	c.(421-423)gAc>gCc	p.D141A		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	141					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|lung(4)|ovary(1)	7						TGTGGCTGGGTCTGCCTTGCC	0.642																																																	0													53.0	49.0	51.0					11																	67401787		2199	4293	6492	SO:0001583	missense	347853			AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"""T-boxes"""	11593	protein-coding gene	gene with protein product		604648	"""T-box 7"""	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.422A>C	11.37:g.67401787T>G	ENSP00000335191:p.Asp141Ala		Q14D64|Q86XS3	Missense_Mutation	SNP	ENST00000335385.3	37	CCDS31621.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.054807	0.75960	.	.	ENSG00000167800	ENST00000335385	D	0.89617	-2.54	3.56	3.56	0.40772	p53-like transcription factor, DNA-binding (1);	0.000000	0.64402	D	0.000004	D	0.93284	0.7860	M	0.93978	3.48	0.58432	D	0.999998	D	0.57571	0.98	P	0.51833	0.681	D	0.94209	0.7457	10	0.87932	D	0	.	11.2552	0.49050	0.0:0.0:0.0:1.0	.	141	O75333	TBX10_HUMAN	A	141	ENSP00000335191:D141A	ENSP00000335191:D141A	D	-	2	0	TBX10	67158363	1.000000	0.71417	0.997000	0.53966	0.794000	0.44872	5.993000	0.70616	1.501000	0.48654	0.254000	0.18369	GAC		0.642	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394034.1		NM_005995	
TMC8	147138	hgsc.bcm.edu	37	17	76127732	76127732	+	Silent	SNP	G	G	A			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr17:76127732G>A	ENST00000318430.5	+	2	437	c.63G>A	c.(61-63)ctG>ctA	p.L21L	TMC8_ENST00000589691.1_Intron|TMC6_ENST00000322914.3_Intron|TMC6_ENST00000322933.4_5'Flank|TMC6_ENST00000589553.1_5'Flank|TMC6_ENST00000590602.1_5'Flank	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	21					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CGGAGGAGCTGTGGGAGGCAG	0.736																																																	0													7.0	9.0	9.0					17																	76127732		2111	4161	6272	SO:0001819	synonymous_variant	147138			AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"""epidermodysplasia verruciformis 2"""	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.63G>A	17.37:g.76127732G>A			Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Silent	SNP	ENST00000318430.5	37	CCDS32749.1																																																																																				0.736	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3			
TNFRSF4	7293	broad.mit.edu;hgsc.bcm.edu	37	1	1149473	1149473	+	Missense_Mutation	SNP	G	G	T			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr1:1149473G>T	ENST00000379236.3	-	1	39	c.35C>A	c.(34-36)cCg>cAg	p.P12Q	TNFRSF4_ENST00000453580.1_5'Flank	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	12					cellular defense response (GO:0006968)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin secretion (GO:0051024)|regulation of apoptotic process (GO:0042981)|regulation of protein kinase activity (GO:0045859)|T cell proliferation (GO:0042098)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGCCGCACACGGCCCGCGGCC	0.687																																																	0													11.0	14.0	13.0					1																	1149473		2166	4257	6423	SO:0001583	missense	7293			X75962	CCDS11.1	1p36	2008-02-05			ENSG00000186827	ENSG00000186827		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11918	protein-coding gene	gene with protein product		600315		TXGP1L		7510240, 2828930	Standard	NM_003327		Approved	ACT35, OX40, CD134	uc001ade.3	P43489	OTTHUMG00000001415	ENST00000379236.3:c.35C>A	1.37:g.1149473G>T	ENSP00000368538:p.Pro12Gln		Q13663|Q2M312|Q5T7M0	Missense_Mutation	SNP	ENST00000379236.3	37	CCDS11.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899231	0.33535	.	.	ENSG00000186827	ENST00000379236	T	0.61158	0.13	2.69	2.69	0.31865	.	0.917030	0.09077	N	0.851928	T	0.68897	0.3051	L	0.50333	1.59	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.54043	-0.8352	10	0.56958	D	0.05	-10.5799	8.9169	0.35587	0.0:0.0:1.0:0.0	.	12	P43489	TNR4_HUMAN	Q	12	ENSP00000368538:P12Q	ENSP00000368538:P12Q	P	-	2	0	TNFRSF4	1139336	0.001000	0.12720	0.008000	0.14137	0.011000	0.07611	0.272000	0.18644	1.532000	0.49169	0.491000	0.48974	CCG		0.687	TNFRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004086.1			
TSGA10IP	254187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65715544	65715544	+	RNA	SNP	C	C	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr11:65715544C>T	ENST00000532620.1	+	0	1307				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein									p.A329V(1)		endometrium(2)|kidney(3)|lung(9)	14						AAGGCCTATGCCTCGGGATAC	0.582																																																	1	Substitution - Missense(1)	kidney(1)											33.0	33.0	33.0					11																	65715544		1930	4124	6054			254187			AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65715544C>T			Q3SXZ9|Q3SY01|Q96M26	Missense_Mutation	SNP	ENST00000532620.1	37																																																																																					0.582	TSGA10IP-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000391373.2		NM_152762	
TSPAN19	144448	broad.mit.edu	37	12	85423547	85423547	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr12:85423547delC	ENST00000532498.2	-	3	169	c.89delG	c.(88-90)ggafs	p.G30fs	TSPAN19_ENST00000547403.2_Intron	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	30						integral component of membrane (GO:0016021)				ovary(1)	1						TGCACCAAATCCCATGAATAA	0.259																																																	0													31.0	29.0	29.0					12																	85423547		1725	3953	5678	SO:0001589	frameshift_variant	144448				CCDS44949.1	12q21.31	2013-02-14			ENSG00000231738	ENSG00000231738		"""Tetraspanins"""	31886	protein-coding gene	gene with protein product							Standard	NM_001100917		Approved		uc009zsj.3	P0C672	OTTHUMG00000166181	ENST00000532498.2:c.89delG	12.37:g.85423547delC	ENSP00000433816:p.Gly30fs			Frame_Shift_Del	DEL	ENST00000532498.2	37	CCDS44949.1																																																																																				0.259	TSPAN19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388240.2		NM_001100917	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179484778	179484778	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr2:179484778C>T	ENST00000591111.1	-	199	41667	c.41443G>A	c.(41443-41445)Gat>Aat	p.D13815N	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D15456N|TTN_ENST00000359218.5_Missense_Mutation_p.D6516N|TTN_ENST00000460472.2_Missense_Mutation_p.D6391N|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D12888N|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D6583N			Q8WZ42	TITIN_HUMAN	titin	13815	Ig-like 94.				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.D12888N(2)|p.D6583N(1)|p.D6391N(1)|p.D6516N(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)			TCACACTCATCATCCAGCCTG	0.358																																																	5	Substitution - Missense(5)	kidney(5)											131.0	121.0	125.0					2																	179484778		1855	4122	5977	SO:0001583	missense	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.41443G>A	2.37:g.179484778C>T	ENSP00000465570:p.Asp13815Asn		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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	16.87	3.241920	0.58995	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.73	5.73	0.89815	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94039	0.8090	H	0.97265	3.97	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.95318	0.8418	9	0.87932	D	0	.	20.2886	0.98538	0.0:1.0:0.0:0.0	.	6391;6516;6583;13815	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	12888;6391;6583;6516;6391	ENSP00000343764:D12888N;ENSP00000434586:D6391N;ENSP00000340554:D6583N;ENSP00000352154:D6516N	ENSP00000340554:D6583N	D	-	1	0	TTN	179193023	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.718000	0.84743	2.882000	0.98803	0.655000	0.94253	GAT		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
TTYH2	94015	broad.mit.edu	37	17	72209750	72209750	+	Silent	SNP	C	C	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr17:72209750C>T	ENST00000269346.4	+	1	98	c.24C>T	c.(22-24)taC>taT	p.Y8Y	CTD-2514K5.2_ENST00000499670.2_RNA|TTYH2_ENST00000529107.1_5'Flank|CTD-2514K5.2_ENST00000531617.1_RNA|CTD-2514K5.2_ENST00000532794.1_RNA	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	8						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.Y8Y(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						GCGTGGACTACATCGCTCCCT	0.721																																																	1	Substitution - coding silent(1)	kidney(1)											37.0	33.0	34.0					17																	72209750		2199	4298	6497	SO:0001819	synonymous_variant	94015				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.24C>T	17.37:g.72209750C>T			B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Silent	SNP	ENST00000269346.4	37	CCDS32717.1																																																																																				0.721	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			
UMPS	7372	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	124457035	124457035	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr3:124457035G>A	ENST00000232607.2	+	3	1037	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	UMPS_ENST00000413078.2_Missense_Mutation_p.E133K|UMPS_ENST00000498715.1_3'UTR|UMPS_ENST00000536109.1_Missense_Mutation_p.E219K|UMPS_ENST00000538242.1_Missense_Mutation_p.E133K	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	311	OMPdecase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)	p.E311K(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	CTTGATATTTGAAGACCGGAA	0.368																																																	1	Substitution - Missense(1)	kidney(1)											67.0	71.0	70.0					3																	124457035		2196	4300	6496	SO:0001583	missense	7372				CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.931G>A	3.37:g.124457035G>A	ENSP00000232607:p.Glu311Lys		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	ENST00000232607.2	37	CCDS3029.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678094	0.88542	.	.	ENSG00000114491	ENST00000232607;ENST00000536109;ENST00000538242;ENST00000413078	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.43	4.53	0.55603	Orotidine 5&apos (2);Aldolase-type TIM barrel (1);-phosphate decarboxylase domain (2);Ribulose-phosphate binding barrel (1);	0.113803	0.64402	D	0.000015	D	0.86863	0.6035	H	0.95982	3.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.90778	0.4677	10	0.87932	D	0	-25.0311	13.8107	0.63262	0.0:0.0:0.8468:0.1532	.	133;133;311	B5LY72;B5LY70;P11172	.;.;UMPS_HUMAN	K	311;219;133;133	ENSP00000232607:E311K;ENSP00000443577:E219K;ENSP00000444988:E133K;ENSP00000397965:E133K	ENSP00000232607:E311K	E	+	1	0	UMPS	125939725	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.890000	0.92477	1.482000	0.48325	0.655000	0.94253	GAA		0.368	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1		NM_000373	
DNM1P47	100216544	broad.mit.edu	37	15	102312241	102312241	+	RNA	DEL	A	A	-	rs59860046|rs371768420	byFrequency	TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr15:102312241delA	ENST00000561463.1	+	0	13609				RN7SL209P_ENST00000488309.2_RNA					DNM1 pseudogene 47																		AGTGGCCGGGAAATTTGCTGT	0.592													|||unknown(NO_COVERAGE)	1711	0.341653	0.5144	0.3516	5008	,	,		9688	0.0565		0.5089	False		,,,				2504	0.2229																0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102312241delA				RNA	DEL	ENST00000561463.1	37																																																																																					0.592	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1		NG_009149	
MIR7162	102466227	broad.mit.edu	37	15	62534753	62534753	+	RNA	DEL	T	T	-			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr15:62534753delT	ENST00000408214.1	-	0	83																											TTCCCATAACTTTTTTTTTTT	0.323																																																	0																																												0																															15.37:g.62534753delT				RNA	DEL	ENST00000408214.1	37																																																																																					0.323	AC126323.1-201	NOVEL	basic	miRNA	miRNA				
USP17L16P	100287302	broad.mit.edu	37	4	9241928	9241928	+	IGR	SNP	G	G	C			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr4:9241928G>C								USP17L15 (4228 upstream) : USP17L17 (3676 downstream)																							ACCGCCGCTAGCATCACTTCT	0.488																																																	0																																										SO:0001628	intergenic_variant	0																															4.37:g.9241928G>C				Missense_Mutation	SNP		37																																																																																				0	0.488									
MIR4477B	100616194	broad.mit.edu	37	9	68413573	68413573	+	RNA	SNP	G	G	A			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr9:68413573G>A	ENST00000581659.1	+	0	0					NR_039688.1|NR_039689.1				microRNA 4477b																		CAGTGGCGCCGGATCTAGGAA	0.597																																																	0																																												0					9	2011-09-12						"""ncRNAs / Micro RNAs"""	41898	non-coding RNA	RNA, micro							Standard	NR_039689		Approved	hsa-mir-4477b					9.37:g.68413573G>A				RNA	SNP	ENST00000581659.1	37																																																																																					0.597	MIR4477B-201	KNOWN	basic	miRNA	miRNA			NR_039689	
WDR73	84942	hgsc.bcm.edu;ucsc.edu	37	15	85186743	85186743	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr15:85186743delA	ENST00000434634.2	-	8	1155	c.1095delT	c.(1093-1095)tctfs	p.S365fs	WDR73_ENST00000398528.3_5'UTR|SCAND2P_ENST00000348993.5_RNA	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	365										cervix(1)|large_intestine(1)|lung(1)	3						ACACATGCAGAGAGGCATCAT	0.547																																																	0													92.0	101.0	98.0					15																	85186743		2170	4286	6456	SO:0001589	frameshift_variant	84942			AK027200	CCDS45339.1	15q25.2	2013-01-09				ENSG00000177082		"""WD repeat domain containing"""	25928	protein-coding gene	gene with protein product						12477932	Standard	NM_032856		Approved	FLJ14888, HSPC264	uc002bkw.2	Q6P4I2		ENST00000434634.2:c.1095delT	15.37:g.85186743delA	ENSP00000387982:p.Ser365fs		Q96JZ1|Q9P0B7	Frame_Shift_Del	DEL	ENST00000434634.2	37	CCDS45339.1																																																																																				0.547	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418195.1		NM_032856	
XPO5	57510	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43491607	43491607	+	Silent	SNP	C	C	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr6:43491607C>T	ENST00000265351.7	-	32	3824	c.3614G>A	c.(3613-3615)tGa>tAa	p.*1205*	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	0					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)	p.*1205*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			AAGCTTGATTCAGGGTTCAAA	0.493																																																	1	Substitution - coding silent(1)	kidney(1)											113.0	116.0	115.0					6																	43491607		1948	4133	6081	SO:0001819	synonymous_variant	57510			AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.3614G>A	6.37:g.43491607C>T			Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Silent	SNP	ENST00000265351.7	37	CCDS47430.1																																																																																				0.493	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2		NM_020750	
YME1L1	10730	hgsc.bcm.edu	37	10	27436462	27436463	+	Frame_Shift_Del	DEL	GC	GC	-	rs74970402|rs200312868|rs398102294	byFrequency	TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr10:27436462_27436463delGC	ENST00000326799.3	-	3	451_452	c.303_304delGC	c.(301-306)tggcacfs	p.WH101fs	YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000376016.3_Intron|YME1L1_ENST00000477432.1_Frame_Shift_Del_p.WH101fs	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	101					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GGACGGAtgtgccagttatcgg	0.441														533	0.10643	0.3888	0.0274	5008	,	,		20833	0.0		0.0	False		,,,				2504	0.0																0									,	1408,2856		237,934,961					,	1.1	0.0		dbSNP_131	197	44,8210		0,44,4083	yes	frameshift,intron	YME1L1	NM_139312.1,NM_014263.2	,	237,978,5044	A1A1,A1R,RR		0.5331,33.0206,11.5993	,	,		1452,11066				SO:0001589	frameshift_variant	10730			AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.303_304delGC	10.37:g.27436462_27436463delGC	ENSP00000318480:p.Trp101fs		B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Frame_Shift_Del	DEL	ENST00000326799.3	37	CCDS7152.1																																																																																				0.441	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1		NM_139312	
YY1AP1	55249	broad.mit.edu;hgsc.bcm.edu	37	1	155640162	155640162	+	Missense_Mutation	SNP	A	A	T			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr1:155640162A>T	ENST00000295566.4	-	8	898	c.875T>A	c.(874-876)cTg>cAg	p.L292Q	YY1AP1_ENST00000311573.5_Missense_Mutation_p.L215Q|YY1AP1_ENST00000359205.5_Missense_Mutation_p.L215Q|YY1AP1_ENST00000407221.1_Missense_Mutation_p.L215Q|YY1AP1_ENST00000347088.5_Missense_Mutation_p.L226Q|YY1AP1_ENST00000438245.2_Intron|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000405763.3_Missense_Mutation_p.L364Q|YY1AP1_ENST00000368340.5_Missense_Mutation_p.L364Q|YY1AP1_ENST00000361831.5_Missense_Mutation_p.L215Q|YY1AP1_ENST00000368339.5_Missense_Mutation_p.L364Q|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000404643.1_Missense_Mutation_p.L226Q|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000355499.4_Missense_Mutation_p.L226Q|YY1AP1_ENST00000535662.1_Missense_Mutation_p.L92Q|YY1AP1_ENST00000368330.2_Missense_Mutation_p.L226Q	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	292					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L292Q(1)|p.L364Q(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CTTTGCCTTCAGGGAACACAC	0.453																																																	2	Substitution - Missense(2)	kidney(2)											128.0	118.0	122.0					1																	155640162		2203	4300	6503	SO:0001583	missense	55249			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.875T>A	1.37:g.155640162A>T	ENSP00000295566:p.Leu292Gln		B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	A	18.42	3.619859	0.66787	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662;ENST00000405763	T;T;T;T;T;T;T;T;T;T;T;T	0.48201	1.51;1.51;1.31;1.51;1.51;0.82;0.84;1.51;1.31;0.91;1.49;0.83	3.32	3.32	0.38043	.	0.000000	0.56097	D	0.000031	T	0.57007	0.2024	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.988;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.993;0.998;0.991;0.988;0.975;0.998;0.999	T	0.63157	-0.6700	10	0.87932	D	0	.	10.3735	0.44068	1.0:0.0:0.0:0.0	.	292;364;226;364;292;226;364	B4DQQ0;B4DMP2;Q9H869-4;B0QZ55;Q9H869;Q9H869-2;Q5VYZ1	.;.;.;.;YYAP1_HUMAN;.;.	Q	215;226;215;226;215;364;292;226;215;226;364;92;364	ENSP00000352134:L215Q;ENSP00000347686:L226Q;ENSP00000311138:L215Q;ENSP00000316079:L226Q;ENSP00000355298:L215Q;ENSP00000357324:L364Q;ENSP00000295566:L292Q;ENSP00000357314:L226Q;ENSP00000385791:L215Q;ENSP00000385390:L226Q;ENSP00000357323:L364Q;ENSP00000437926:L92Q	ENSP00000295566:L292Q	L	-	2	0	YY1AP1	153906786	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.917000	0.69989	1.498000	0.48600	0.455000	0.32223	CTG		0.453	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1		NM_139118	
ZDHHC16	84287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	99211881	99211881	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-4098-01A-01D-1458-08	TCGA-B2-4098-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	76faa3c6-4474-433c-89e3-e78b68573ac5	db55656f-778d-4864-8679-61caa7e12c02	g.chr10:99211881C>T	ENST00000370854.3	+	3	467	c.278C>T	c.(277-279)tCc>tTc	p.S93F	ZDHHC16_ENST00000393760.1_Missense_Mutation_p.S93F|ZDHHC16_ENST00000353979.3_Missense_Mutation_p.S93F|ZDHHC16_ENST00000352634.4_Missense_Mutation_p.S93F|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000345745.5_Intron|ZDHHC16_ENST00000370842.2_Missense_Mutation_p.S93F|ZDHHC16_ENST00000370846.4_Missense_Mutation_p.S93F	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	93					apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.S93F(1)		kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		CTGACAGGCTCCATTGTAGCT	0.547																																																	1	Substitution - Missense(1)	kidney(1)											166.0	116.0	133.0					10																	99211881		2203	4300	6503	SO:0001583	missense	84287			AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"""Zinc fingers, DHHC-type"""	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.278C>T	10.37:g.99211881C>T	ENSP00000359891:p.Ser93Phe		D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	Missense_Mutation	SNP	ENST00000370854.3	37	CCDS7460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.74|17.74	3.464558|3.464558	0.63513|0.63513	.|.	.|.	ENSG00000171307|ENSG00000171307	ENST00000420089;ENST00000417044|ENST00000370854;ENST00000393760;ENST00000414567;ENST00000370846;ENST00000352634;ENST00000353979;ENST00000370842	.|T;T;T;T;T;T;T	.|0.35789	.|1.29;1.29;1.29;1.29;1.29;1.29;1.29	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.58566|0.58566	0.2131|0.2131	M|M	0.72353|0.72353	2.195|2.195	0.80722|0.80722	D|D	1|1	.|D;D;D;P;P;P	.|0.89917	.|1.0;1.0;0.998;0.811;0.778;0.671	.|D;D;D;P;B;B	.|0.91635	.|0.999;0.993;0.991;0.693;0.398;0.224	T|T	0.51748|0.51748	-0.8666|-0.8666	5|10	.|0.10902	.|T	.|0.67	-27.601|-27.601	19.4725|19.4725	0.94969|0.94969	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|93;93;68;93;93;93	.|B4DNL2;B1AMU0;B1AMU1;Q969W1-3;Q969W1-2;Q969W1	.|.;.;.;.;.;ZDH16_HUMAN	S|F	69;35|93	.|ENSP00000359891:S93F;ENSP00000377357:S93F;ENSP00000400719:S93F;ENSP00000359883:S93F;ENSP00000345383:S93F;ENSP00000323360:S93F;ENSP00000359879:S93F	.|ENSP00000345383:S93F	P|S	+|+	1|2	0|0	ZDHHC16|ZDHHC16	99201871|99201871	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	5.943000|5.943000	0.70211|0.70211	2.611000|2.611000	0.88343|0.88343	0.561000|0.561000	0.74099|0.74099	CCA|TCC		0.547	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049658.2		NM_032327	
ZNF804B	219578	hgsc.bcm.edu;ucsc.edu	37	7	88962701	88962702	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr7:88962701_88962702insA	ENST00000333190.4	+	4	1014_1015	c.405_406insA	c.(406-408)aaafs	p.K136fs		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	136							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GACCAGCATACAAAGCCCCCAG	0.366										HNSCC(36;0.09)																																							0																																										SO:0001589	frameshift_variant	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.408dupA	7.37:g.88962704_88962704dupA	ENSP00000329638:p.Lys136fs		B2RTV2|Q7Z714|Q96MN7	Frame_Shift_Ins	INS	ENST00000333190.4	37	CCDS5613.1																																																																																				0.366	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2		NM_181646	
ZPLD1	131368	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	102157367	102157367	+	Silent	SNP	T	T	C			TCGA-B2-4098-01A-02D-1386-10	TCGA-B2-4098-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ae3c4d9-cbe7-42e6-a60c-67e0fc098d40	4263df5d-4a99-40dc-84ac-e47c55001df5	g.chr3:102157367T>C	ENST00000491959.1	+	9	918	c.36T>C	c.(34-36)atT>atC	p.I12I	ZPLD1_ENST00000466937.1_Silent_p.I12I|ZPLD1_ENST00000306176.1_Silent_p.I28I			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	12			I -> F (in dbSNP:rs6784362).			integral component of membrane (GO:0016021)		p.I28I(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TTCTAACAATTAGAGTGCTTC	0.433																																																	1	Substitution - coding silent(1)	kidney(1)											151.0	134.0	139.0					3																	102157367		2203	4300	6503	SO:0001819	synonymous_variant	131368			AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.36T>C	3.37:g.102157367T>C			Q49AS1|Q8WU36	Silent	SNP	ENST00000491959.1	37																																																																																					0.433	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1		NM_175056	
