#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ABCC6	368	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	16284071	16284071	+	Missense_Mutation	SNP	C	C	T	rs140045277		TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:16284071C>T	ENST00000205557.7	-	12	1614	c.1585G>A	c.(1585-1587)Ggc>Agc	p.G529S	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	529	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.G529S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	AAGAGGAGGCCGGAGGTCCGC	0.592																																																	1	Substitution - Missense(1)	kidney(1)						C	SER/GLY	0,4394		0,0,2197	79.0	81.0	81.0		1585	-1.0	0.9	16	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCC6	NM_001171.5	56	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	529/1504	16284071	1,12993	2197	4300	6497	SO:0001583	missense	368			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.1585G>A	16.37:g.16284071C>T	ENSP00000205557:p.Gly529Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025804	0.35701	0.0	1.16E-4	ENSG00000091262	ENST00000205557;ENST00000456970;ENST00000546056	D;D	0.89415	-2.51;-2.51	5.07	-0.967	0.10316	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.902840	0.09184	N	0.836987	T	0.79947	0.4534	L	0.28694	0.88	0.09310	N	1	B;B	0.26258	0.145;0.046	B;B	0.20184	0.016;0.028	T	0.63328	-0.6662	10	0.38643	T	0.18	.	7.0971	0.25315	0.0:0.5452:0.1167:0.3381	.	541;529	F5GWQ0;O95255	.;MRP6_HUMAN	S	529;529;541	ENSP00000205557:G529S;ENSP00000405002:G529S	ENSP00000205557:G529S	G	-	1	0	ABCC6	16191572	0.846000	0.29590	0.889000	0.34880	0.687000	0.40016	0.799000	0.27028	-0.492000	0.06687	0.561000	0.74099	GGC		0.592	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			
ABHD14A	25864	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52012054	52012054	+	Silent	SNP	G	G	A	rs201635694	byFrequency	TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:52012054G>A	ENST00000273596.3	+	2	305	c.237G>A	c.(235-237)tcG>tcA	p.S79S	ABHD14A-ACY1_ENST00000463937.1_Silent_p.S79S|ABHD14B_ENST00000483233.1_Intron|ABHD14A_ENST00000491470.1_Silent_p.S79S|ACY1_ENST00000458031.2_Missense_Mutation_p.R31H	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	79						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.S79S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTGGCAACTCGCCCATCTTTT	0.617													G|||	2	0.000399361	0.0	0.0	5008	,	,		18569	0.001		0.001	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)											38.0	35.0	36.0					3																	52012054		2202	4300	6502	SO:0001819	synonymous_variant	25864			AY358201	CCDS2843.1	3p21.1	2011-02-14			ENSG00000248487	ENSG00000248487		"""Abhydrolase domain containing"""	24538	protein-coding gene	gene with protein product							Standard	NM_015407		Approved	DKFZP564O243, DORZ1	uc003dco.3	Q9BUJ0	OTTHUMG00000157818	ENST00000273596.3:c.237G>A	3.37:g.52012054G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6UXU8|Q9Y3T7	Silent	SNP	ENST00000273596.3	37	CCDS2843.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.15	3.041065	0.55003	.	.	ENSG00000114786	ENST00000458031	T	0.73575	-0.76	5.93	2.14	0.27477	.	.	.	.	.	T	0.61489	0.2351	.	.	.	0.52099	D	0.999949	B	0.26195	0.144	B	0.09377	0.004	T	0.57694	-0.7767	8	0.87932	D	0	-8.1994	6.2388	0.20778	0.0:0.6399:0.1333:0.2269	.	31	B4DNW0	.	H	31	ENSP00000390557:R31H	ENSP00000390557:R31H	R	+	2	0	RP11-155D18.11	51987094	0.048000	0.20356	0.755000	0.31263	0.994000	0.84299	0.005000	0.13129	0.421000	0.25980	-0.128000	0.14901	CGC		0.617	ABHD14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349689.1		NM_015407	
ALOX12B	242	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7990740	7990740	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:7990740C>T	ENST00000319144.4	-	1	281	c.21G>A	c.(19-21)agG>agA	p.R7R	MIR4314_ENST00000583321.1_RNA	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	7	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.R7R(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CTGTGGCCACCCTGACTTTGT	0.602										Multiple Myeloma(8;0.094)																																							1	Substitution - coding silent(1)	kidney(1)											152.0	121.0	132.0					17																	7990740		2203	4300	6503	SO:0001819	synonymous_variant	242			AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.21G>A	17.37:g.7990740C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000319144.4	37	CCDS11129.1																																																																																				0.602	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			
ANXA4	307	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	70045736	70045736	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:70045736G>A	ENST00000394295.4	+	10	882	c.634G>A	c.(634-636)Gat>Aat	p.D212N	ANXA4_ENST00000409920.1_Missense_Mutation_p.D190N|ANXA4_ENST00000536030.1_Missense_Mutation_p.D128N	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	210					epithelial cell differentiation (GO:0030855)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phospholipase inhibitor activity (GO:0004859)	p.D212N(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						TGCAGTGTTTGATGAATACAA	0.338																																																	1	Substitution - Missense(1)	kidney(1)											100.0	99.0	100.0					2																	70045736		2203	4300	6503	SO:0001583	missense	307			M82809	CCDS1894.1	2p13.3	2008-02-05			ENSG00000196975	ENSG00000196975		"""Annexins"""	542	protein-coding gene	gene with protein product		106491		ANX4		1346776	Standard	NM_001153		Approved		uc002sfr.4	P09525	OTTHUMG00000129649	ENST00000394295.4:c.634G>A	2.37:g.70045736G>A	ENSP00000377833:p.Asp212Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B4DDF9|Q96F33|Q9BWK1	Missense_Mutation	SNP	ENST00000394295.4	37	CCDS1894.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077017	0.76415	.	.	ENSG00000196975	ENST00000409920;ENST00000394295;ENST00000536030	T;T;T	0.03242	4.0;4.0;4.0	5.75	5.75	0.90469	Annexin repeat, conserved site (1);	0.242098	0.47852	D	0.000201	T	0.07369	0.0186	L	0.39085	1.19	0.58432	D	0.999997	P;B;P	0.39576	0.679;0.016;0.679	P;B;P	0.46940	0.532;0.034;0.532	T	0.47886	-0.9082	9	.	.	.	.	17.4171	0.87504	0.0:0.0:1.0:0.0	.	210;190;212	P09525;Q6P452;Q6LES2	ANXA4_HUMAN;.;.	N	190;212;128	ENSP00000386756:D190N;ENSP00000377833:D212N;ENSP00000441931:D128N	.	D	+	1	0	ANXA4	69899240	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.446000	0.52928	2.704000	0.92352	0.591000	0.81541	GAT		0.338	ANXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251848.2		NM_001153	
ATP5B	506	broad.mit.edu;hgsc.bcm.edu	37	12	57033957	57033957	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:57033957T>C	ENST00000262030.3	-	8	1144	c.1094A>G	c.(1093-1095)gAt>gGt	p.D365G	ATP5B_ENST00000550162.1_5'UTR|ATP5B_ENST00000552919.1_Missense_Mutation_p.D354G	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	365					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)	p.D365G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGTCAAGTCATCAGCAGGCAC	0.483																																																	1	Substitution - Missense(1)	kidney(1)											119.0	105.0	110.0					12																	57033957		2203	4300	6503	SO:0001583	missense	506			M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.1094A>G	12.37:g.57033957T>C	ENSP00000262030:p.Asp365Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4X0|Q14283	Missense_Mutation	SNP	ENST00000262030.3	37	CCDS8924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.27|18.27	3.587272|3.587272	0.66105|0.66105	.|.	.|.	ENSG00000110955|ENSG00000110955	ENST00000262030;ENST00000552919;ENST00000551570|ENST00000552959	T;T;T|.	0.76060|.	-0.99;-0.99;-0.99|.	5.77|5.77	5.77|5.77	0.91146|0.91146	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);ATPase, AAA+ type, core (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.78910|.	0.4358|.	M|M	0.86178|0.86178	2.8|2.8	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|.	0.81468|.	-0.0919|.	10|.	0.87932|.	D|.	0|.	-33.2737|-33.2737	15.0783|15.0783	0.72093|0.72093	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	365|.	P06576|.	ATPB_HUMAN|.	G|W	365;354;109|301	ENSP00000262030:D365G;ENSP00000450297:D354G;ENSP00000448428:D109G|.	ENSP00000262030:D365G|.	D|X	-|-	2|3	0|0	ATP5B|ATP5B	55320224|55320224	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.871000|7.871000	0.87180|0.87180	2.199000|2.199000	0.70637|0.70637	0.533000|0.533000	0.62120|0.62120	GAT|TGA		0.483	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1		NM_001686	
TCEANC2	127428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	54562078	54562078	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:54562078G>A	ENST00000234827.1	+	5	759	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	TCEANC2_ENST00000371331.1_Missense_Mutation_p.E217K|TCEANC2_ENST00000498272.1_3'UTR	NM_153035.1	NP_694580.1	Q96MN5	TEAN2_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing 2	187	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E187K(1)		kidney(1)|lung(3)|pancreas(1)	5						GCACCGAGCTGAAATCCGGGC	0.572																																																	1	Substitution - Missense(1)	kidney(1)											46.0	52.0	50.0					1																	54562078		2203	4300	6503	SO:0001583	missense	0			AK056674	CCDS587.1	1p32.3	2011-01-25	2011-01-25	2011-01-25	ENSG00000116205	ENSG00000116205			26494	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 83"""	C1orf83		12477932	Standard	NM_153035		Approved	FLJ32112	uc001cwt.1	Q96MN5	OTTHUMG00000008434	ENST00000234827.1:c.559G>A	1.37:g.54562078G>A	ENSP00000234827:p.Glu187Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T702|Q8N8N2	Missense_Mutation	SNP	ENST00000234827.1	37	CCDS587.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357502	0.82243	.	.	ENSG00000116205	ENST00000234827;ENST00000371331	T;T	0.45668	0.89;0.89	5.34	4.37	0.52481	Transcription elongation factor S-II, central domain (3);	0.198130	0.52532	D	0.000075	T	0.51601	0.1684	L	0.54323	1.7	0.58432	D	0.999999	P	0.52842	0.956	P	0.55545	0.778	T	0.42682	-0.9437	10	0.28530	T	0.3	-15.5344	15.46	0.75346	0.0:0.1389:0.8611:0.0	.	187	Q96MN5	TEAN2_HUMAN	K	187;217	ENSP00000234827:E187K;ENSP00000360382:E217K	ENSP00000234827:E187K	E	+	1	0	TCEANC2	54334666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.036000	0.70948	2.522000	0.85027	0.563000	0.77884	GAA		0.572	TCEANC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023245.1		NM_153035	
NYAP1	222950	hgsc.bcm.edu	37	7	100086160	100086161	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:100086160_100086161insG	ENST00000300179.2	+	4	975_976	c.816_817insG	c.(817-819)gggfs	p.G273fs	NYAP1_ENST00000423930.1_Frame_Shift_Ins_p.G273fs|NYAP1_ENST00000454988.1_Frame_Shift_Ins_p.G216fs	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	273					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CGGAAGAGGCTGGGGAAGGCCG	0.673																																																	0																																										SO:0001589	frameshift_variant	0			AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.820dupG	7.37:g.100086164_100086164dupG	ENSP00000300179:p.Gly273fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q6U9Y3|Q8N1V0	Frame_Shift_Ins	INS	ENST00000300179.2	37	CCDS5696.1																																																																																				0.673	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2		NM_173564	
CCHCR1	54535	broad.mit.edu;hgsc.bcm.edu	37	6	31111166	31111166	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:31111166C>A	ENST00000376266.5	-	16	2047	c.1925G>T	c.(1924-1926)cGc>cTc	p.R642L	CCHCR1_ENST00000396263.2_Missense_Mutation_p.R589L|CCHCR1_ENST00000451521.2_Missense_Mutation_p.R695L|CCHCR1_ENST00000396268.3_Missense_Mutation_p.R731L	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	642					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R731L(1)|p.R642L(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GGCGGCTCTGCGCTGAATCTG	0.647																																																	2	Substitution - Missense(2)	kidney(2)											45.0	52.0	49.0					6																	31111166		1510	2708	4218	SO:0001583	missense	54535			AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.1925G>T	6.37:g.31111166C>A	ENSP00000365442:p.Arg642Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545784	0.45280	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.04156	3.69;3.69;3.69;3.69	5.18	1.45	0.22620	.	0.313587	0.30076	N	0.010478	T	0.02807	0.0084	M	0.66939	2.045	0.28703	N	0.903943	P;P;P;P	0.48503	0.837;0.837;0.911;0.804	P;B;P;B	0.46172	0.506;0.402;0.506;0.203	T	0.38993	-0.9635	10	0.38643	T	0.18	-1.344	6.9753	0.24672	0.0:0.6304:0.0:0.3696	.	642;642;695;731	B4DIA2;Q8TD31;E9PE84;Q8TD31-2	.;CCHCR_HUMAN;.;.	L	731;642;589;642;695	ENSP00000379566:R731L;ENSP00000365442:R642L;ENSP00000379561:R589L;ENSP00000401039:R695L	ENSP00000365442:R642L	R	-	2	0	CCHCR1	31219145	1.000000	0.71417	0.840000	0.33206	0.570000	0.35934	0.461000	0.21940	0.081000	0.16988	-0.275000	0.10095	CGC		0.647	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5		NM_019052	
CELA3B	23436	broad.mit.edu;hgsc.bcm.edu	37	1	22304925	22304925	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:22304925T>A	ENST00000337107.6	+	2	126	c.107T>A	c.(106-108)gTc>gAc	p.V36D	RN7SL421P_ENST00000582599.1_RNA	NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	36	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.V36D(1)		breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GAGGATGCGGTCCCCTACAGC	0.622																																																	1	Substitution - Missense(1)	kidney(1)											142.0	90.0	108.0					1																	22304925		2203	4300	6503	SO:0001583	missense	23436			M18692	CCDS219.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000219073	ENSG00000219073	3.4.21.70		15945	protein-coding gene	gene with protein product	"""proteinase E"", ""elastase 1"", ""cholesterol-binding pancreatic protease"", ""pancreatic endopeptidase E"""		"""elastase 3B, pancreatic"""	ELA3B		2826474, 2460440	Standard	NM_007352		Approved	CBPP	uc001bfk.3	P08861	OTTHUMG00000002758	ENST00000337107.6:c.107T>A	1.37:g.22304925T>A	ENSP00000338369:p.Val36Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE44|P11423|Q5VU28|Q5VU29|Q5VU30	Missense_Mutation	SNP	ENST00000337107.6	37	CCDS219.1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.679528	0.47886	.	.	ENSG00000219073	ENST00000337107;ENST00000374666	D;D	0.88277	-2.36;-2.36	5.1	3.89	0.44902	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.570267	0.17813	N	0.161143	D	0.84674	0.5524	L	0.35793	1.09	0.09310	N	0.999996	P;B	0.47677	0.899;0.011	P;B	0.49953	0.627;0.029	T	0.75025	-0.3463	10	0.34782	T	0.22	-17.6268	3.9217	0.09247	0.1853:0.0973:0.0:0.7174	.	36;36	B1AQ52;P08861	.;CEL3B_HUMAN	D	36;52	ENSP00000338369:V36D;ENSP00000363798:V52D	ENSP00000338369:V36D	V	+	2	0	CELA3B	22177512	0.000000	0.05858	0.300000	0.25030	0.939000	0.58152	0.503000	0.22610	1.924000	0.55735	0.528000	0.53228	GTC		0.622	CELA3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007797.1		NM_007352	
CLASP2	23122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	33725901	33725901	+	Silent	SNP	C	C	A			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:33725901C>A	ENST00000468888.2	-	6	640	c.594G>T	c.(592-594)gtG>gtT	p.V198V	CLASP2_ENST00000399362.4_Silent_p.V198V|CLASP2_ENST00000359576.5_Silent_p.V198V|CLASP2_ENST00000307312.7_5'UTR			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	1251					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)	p.V198V(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CTTTTTCTCCCACATGTCTAT	0.318																																																	1	Substitution - coding silent(1)	kidney(1)											141.0	141.0	141.0					3																	33725901		1815	4079	5894	SO:0001819	synonymous_variant	23122			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.594G>T	3.37:g.33725901C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Silent	SNP	ENST00000468888.2	37																																																																																					0.318	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4		NM_001207044	
CLEC16A	23274	hgsc.bcm.edu	37	16	11260328	11260343	+	Frame_Shift_Del	DEL	AGCGGCAGCGGGAGCA	AGCGGCAGCGGGAGCA	-	rs202179630|rs376422391|rs78286735|rs200377942|rs201357816	byFrequency	TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	AGCGGCAGCGGGAGCA	AGCGGCAGCGGGAGCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:11260328_11260343delAGCGGCAGCGGGAGCA	ENST00000409790.1	+	23	2955_2970	c.2725_2740delAGCGGCAGCGGGAGCA	c.(2725-2742)agcggcagcgggagcaccfs	p.SGSGST909fs	CLEC16A_ENST00000381822.2_5'UTR	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)|p.G910S(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CGGGAGCCCCAGCGGCAGCGGGAGCACCAGCCACTG	0.648																																																	2	Substitution - Missense(1)|Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)								48,4100		2,44,2028						3.6	1.0			34	82,8116		0,82,4017	no	frameshift	CLEC16A	NM_015226.2		2,126,6045	A1A1,A1R,RR		1.0002,1.1572,1.053				130,12216				SO:0001589	frameshift_variant	23274			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2725_2740delAGCGGCAGCGGGAGCA	16.37:g.11260328_11260343delAGCGGCAGCGGGAGCA	ENSP00000387122:p.Ser909fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000409790.1	37	CCDS45409.1																																																																																				0.648	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2		NM_015226	
COL6A3	1293	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	238244811	238244811	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:238244811C>T	ENST00000295550.4	-	40	9384	c.8932G>A	c.(8932-8934)Gct>Act	p.A2978T	COL6A3_ENST00000347401.3_Missense_Mutation_p.A2777T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2778T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2772T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A2371T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2772T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2978	Ala-rich.|Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A2978T(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTGGTGGCAGCTGGTTTGGCT	0.587																																																	1	Substitution - Missense(1)	kidney(1)											39.0	36.0	37.0					2																	238244811		2036	4009	6045	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8932G>A	2.37:g.238244811C>T	ENSP00000295550:p.Ala2978Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	7.713	0.695595	0.15106	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.90069	-2.61;-2.48;-2.48;-2.56;-2.48;-2.46	4.86	2.91	0.33838	.	0.597758	0.13535	N	0.380693	D	0.84442	0.5473	L	0.55834	1.745	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.74453	-0.3660	10	0.45353	T	0.12	.	7.4679	0.27332	0.0:0.7097:0.1856:0.1047	.	2371;2772;2978	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	T	2978;2777;2772;2371;2772;2778	ENSP00000295550:A2978T;ENSP00000315609:A2777T;ENSP00000315873:A2772T;ENSP00000418285:A2371T;ENSP00000386844:A2772T;ENSP00000295546:A2778T	ENSP00000295550:A2978T	A	-	1	0	COL6A3	237909550	0.000000	0.05858	0.014000	0.15608	0.504000	0.33889	-0.537000	0.06128	1.032000	0.39892	0.563000	0.77884	GCT		0.587	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2		NM_004369	
CPSF4	10898	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99047957	99047957	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:99047957G>T	ENST00000292476.5	+	4	376	c.366G>T	c.(364-366)aaG>aaT	p.K122N	CPSF4_ENST00000441580.1_Missense_Mutation_p.K69N|ATP5J2-PTCD1_ENST00000413834.1_Intron|ATP5J2_ENST00000466753.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000451876.1_Intron|CPSF4_ENST00000471455.1_3'UTR|CPSF4_ENST00000436336.2_Missense_Mutation_p.K122N			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	122					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.K122N(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCAAGATCAAGGACTGTCCTT	0.622																																																	1	Substitution - Missense(1)	kidney(1)											82.0	67.0	72.0					7																	99047957		2203	4300	6503	SO:0001583	missense	10898				CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"""cleavage and polyadenylation specific factor 4, 30kD subunit"""			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.366G>T	7.37:g.99047957G>T	ENSP00000292476:p.Lys122Asn	Somatic		WXS	Illumina HiSeq	Phase_I	D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Missense_Mutation	SNP	ENST00000292476.5	37	CCDS5664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.136651|4.136651	0.77662|0.77662	.|.	.|.	ENSG00000160917|ENSG00000160917	ENST00000440514|ENST00000436336;ENST00000292476;ENST00000441580;ENST00000412686;ENST00000452047	.|T;T;T;T;T	.|0.44083	.|0.93;0.93;0.93;0.93;1.38	5.93|5.93	2.74|2.74	0.32292|0.32292	.|Zinc finger, CCCH-type (2);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.59280	.|0.2182	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	.|D;D;P;D	.|0.69078	.|0.993;0.997;0.779;0.995	.|P;D;B;D	.|0.69654	.|0.722;0.965;0.313;0.965	.|T	.|0.57376	.|-0.7822	.|10	.|0.33940	.|T	.|0.23	-19.65|-19.65	7.1249|7.1249	0.25467|0.25467	0.4371:0.0:0.5629:0.0|0.4371:0.0:0.5629:0.0	.|.	.|69;122;122;122	.|B7Z7B0;O95639-3;O95639;O95639-2	.|.;.;CPSF4_HUMAN;.	X|N	4|122;122;69;69;89	.|ENSP00000395311:K122N;ENSP00000292476:K122N;ENSP00000402224:K69N;ENSP00000401150:K69N;ENSP00000392584:K89N	.|ENSP00000292476:K122N	G|K	+|+	1|3	0|2	CPSF4|CPSF4	98885893|98885893	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.125000|3.125000	0.50469|0.50469	0.851000|0.851000	0.35264|0.35264	-0.136000|-0.136000	0.14681|0.14681	GGA|AAG		0.622	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1			
CWF19L1	55280	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	102006678	102006678	+	Silent	SNP	G	G	A			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:102006678G>A	ENST00000354105.4	-	8	809	c.723C>T	c.(721-723)ttC>ttT	p.F241F	CWF19L1_ENST00000478047.1_Intron|CWF19L1_ENST00000370379.1_5'Flank	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	241							catalytic activity (GO:0003824)	p.F241F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		GAACAATACTGAACGCGTAAA	0.393																																																	1	Substitution - coding silent(1)	kidney(1)											75.0	68.0	71.0					10																	102006678		2203	4300	6503	SO:0001819	synonymous_variant	55280			AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.723C>T	10.37:g.102006678G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Silent	SNP	ENST00000354105.4	37	CCDS7489.1																																																																																				0.393	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_018294	
DENND2D	79961	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	111734915	111734916	+	Missense_Mutation	DNP	AG	AG	CT	rs376513608		TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	A|G	A|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:111734915_111734916AG>CT	ENST00000357640.4	-	8	1047_1048	c.818_819CT>AG	c.(817-819)gCT>gAG	p.A273E	DENND2D_ENST00000369752.5_Missense_Mutation_p.A270E|DENND2D_ENST00000473682.1_5'Flank	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	273	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.A273D(1)|p.A273E(1)|p.A273A(1)		breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		GTGCGGCAGCAGCATGGATGCA	0.629																																																	3	Substitution - Missense(2)|Substitution - coding silent(1)	kidney(3)																																								SO:0001583	missense	79961				CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"""DENN/MADD domain containing"""	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.818_819delinsCT	1.37:g.111734915_111734916delinsCT	ENSP00000350266:p.Ala273Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T5V6|Q9BSU0	Silent|Missense_Mutation	SNP	ENST00000357640.4	37	CCDS831.1																																																																																				0.629	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1		NM_024901	
DHX8	1659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	41585811	41585811	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:41585811A>G	ENST00000262415.3	+	16	2497	c.2425A>G	c.(2425-2427)Atc>Gtc	p.I809V	DHX8_ENST00000540306.1_Missense_Mutation_p.I809V	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	809	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.I809V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AGAGTTAATTATCCTCCCAGT	0.468																																					NSCLC(56;1548 1661 49258 49987)												1	Substitution - Missense(1)	kidney(1)											147.0	139.0	141.0					17																	41585811		2203	4300	6503	SO:0001583	missense	1659			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.2425A>G	17.37:g.41585811A>G	ENSP00000262415:p.Ile809Val	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000262415.3	37	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	A	18.94	3.728834	0.69074	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.73575	-0.76;-0.76	5.68	5.68	0.88126	Helicase, C-terminal (3);	0.119433	0.64402	D	0.000011	T	0.71443	0.3340	N	0.16790	0.44	0.58432	D	0.999993	P;P	0.49447	0.924;0.715	P;P	0.53809	0.73;0.735	T	0.75105	-0.3435	10	0.52906	T	0.07	.	15.0989	0.72256	1.0:0.0:0.0:0.0	.	809;809	F5H658;Q14562	.;DHX8_HUMAN	V	809	ENSP00000437886:I809V;ENSP00000262415:I809V	ENSP00000262415:I809V	I	+	1	0	DHX8	38941337	1.000000	0.71417	0.981000	0.43875	0.992000	0.81027	7.422000	0.80217	2.162000	0.67917	0.459000	0.35465	ATC		0.468	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			
DNM1L	10059	hgsc.bcm.edu;ucsc.edu	37	12	32863894	32863894	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:32863894delT	ENST00000549701.1	+	5	475	c.401delT	c.(400-402)attfs	p.I134fs	DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000381000.4_Frame_Shift_Del_p.I147fs|DNM1L_ENST00000358214.5_Frame_Shift_Del_p.I147fs|DNM1L_ENST00000547312.1_Frame_Shift_Del_p.I134fs|DNM1L_ENST00000553257.1_Frame_Shift_Del_p.I147fs|DNM1L_ENST00000452533.2_Frame_Shift_Del_p.I134fs|DNM1L_ENST00000266481.6_Frame_Shift_Del_p.I134fs|DNM1L_ENST00000414834.2_Intron			O00429	DNM1L_HUMAN	dynamin 1-like	134	Dynamin-type G.|GTPase domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CATCTTAAGATTTTTTCACCC	0.318																																																	0													108.0	101.0	103.0					12																	32863894		2203	4300	6503	SO:0001589	frameshift_variant	10059			AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.401delT	12.37:g.32863894delT	ENSP00000450399:p.Ile134fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Frame_Shift_Del	DEL	ENST00000549701.1	37	CCDS8729.1																																																																																				0.318	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1		NM_012062	
DIP2B	57609	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	51084867	51084867	+	Silent	SNP	T	T	C			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:51084867T>C	ENST00000301180.5	+	13	1621	c.1587T>C	c.(1585-1587)gtT>gtC	p.V529V		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	529						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.V529V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TAATGGGAGTTACAGTATCCC	0.408																																																	1	Substitution - coding silent(1)	kidney(1)											127.0	110.0	116.0					12																	51084867		2203	4300	6503	SO:0001819	synonymous_variant	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.1587T>C	12.37:g.51084867T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	37	CCDS31799.1																																																																																				0.408	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1		NM_173602	
EME1	146956	broad.mit.edu;hgsc.bcm.edu	37	17	48452557	48452557	+	5'UTR	SNP	A	A	C	rs372340954		TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:48452557A>C	ENST00000338165.4	+	0	70				EME1_ENST00000511648.2_5'UTR|MRPL27_ENST00000507088.1_5'Flank|MRPL27_ENST00000225969.4_5'Flank|MRPL27_ENST00000503633.1_5'Flank|EME1_ENST00000393271.2_5'UTR|MRPL27_ENST00000442592.3_5'Flank	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1						DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			GAATTATTTGATAGCACATAC	0.413								Direct reversal of damage;Homologous recombination																																									0													53.0	53.0	53.0					17																	48452557		2203	4300	6503	SO:0001623	5_prime_UTR_variant	146956			BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"""	610885	"""essential meiotic endonuclease 1 homolog 1 (S. pombe)"""			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.-13A>C	17.37:g.48452557A>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q96N62	5'UTR	SNP	ENST00000338165.4	37	CCDS11565.1																																																																																				0.413	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367118.3		NM_152463	
EME1	146956	broad.mit.edu;hgsc.bcm.edu	37	17	48452559	48452559	+	5'UTR	SNP	A	A	G			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:48452559A>G	ENST00000338165.4	+	0	72				EME1_ENST00000511648.2_5'UTR|MRPL27_ENST00000507088.1_5'Flank|MRPL27_ENST00000225969.4_5'Flank|MRPL27_ENST00000503633.1_5'Flank|EME1_ENST00000393271.2_5'UTR|MRPL27_ENST00000442592.3_5'Flank	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1						DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			ATTATTTGATAGCACATACTG	0.418								Direct reversal of damage;Homologous recombination																																									0													54.0	54.0	54.0					17																	48452559		2203	4300	6503	SO:0001623	5_prime_UTR_variant	146956			BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"""	610885	"""essential meiotic endonuclease 1 homolog 1 (S. pombe)"""			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.-11A>G	17.37:g.48452559A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q96N62	5'UTR	SNP	ENST00000338165.4	37	CCDS11565.1																																																																																				0.418	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367118.3		NM_152463	
ESPL1	9700	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53684167	53684167	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:53684167A>T	ENST00000257934.4	+	24	5369	c.5278A>T	c.(5278-5280)Atc>Ttc	p.I1760F	ESPL1_ENST00000552462.1_Missense_Mutation_p.I1760F	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1760					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.I1760F(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GTTTGATGCCATCCAGAAGGC	0.547																																					Colon(53;1069 1201 2587 5382)												1	Substitution - Missense(1)	kidney(1)											128.0	111.0	116.0					12																	53684167		2203	4300	6503	SO:0001583	missense	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5278A>T	12.37:g.53684167A>T	ENSP00000257934:p.Ile1760Phe	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000257934.4	37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.568623	0.86439	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.15603	2.41;2.41	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.45796	0.1360	M	0.82823	2.61	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.50583	-0.8811	10	0.87932	D	0	.	14.5491	0.68054	1.0:0.0:0.0:0.0	.	1760	Q14674	ESPL1_HUMAN	F	1760;1435;1760	ENSP00000257934:I1760F;ENSP00000449831:I1760F	ENSP00000257934:I1760F	I	+	1	0	ESPL1	51970434	1.000000	0.71417	0.995000	0.50966	0.957000	0.61999	4.875000	0.63072	2.277000	0.76020	0.528000	0.53228	ATC		0.547	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2		NM_012291	
FANCA	2175	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	89838183	89838183	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:89838183C>T	ENST00000389301.3	-	23	2084	c.2054G>A	c.(2053-2055)aGg>aAg	p.R685K	FANCA_ENST00000568369.1_Missense_Mutation_p.R685K|FANCA_ENST00000567284.2_5'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	685					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R685K(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CAGGACAGCCCTCAGTCTTTC	0.517			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""Fanconi anemia, complementation group A"""		L	1	Substitution - Missense(1)	kidney(1)											134.0	111.0	118.0					16																	89838183		2198	4300	6498	SO:0001583	missense	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.2054G>A	16.37:g.89838183C>T	ENSP00000373952:p.Arg685Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	C	3.492	-0.103691	0.06967	.	.	ENSG00000187741	ENST00000389301	D	0.83591	-1.74	4.45	-4.06	0.03986	.	3.134130	0.00718	N	0.000862	T	0.67325	0.2881	N	0.16368	0.405	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.63462	-0.6632	10	0.02654	T	1	1.9262	10.9509	0.47327	0.0:0.3362:0.0:0.6638	.	685;685	B4DRI7;O15360	.;FANCA_HUMAN	K	685	ENSP00000373952:R685K	ENSP00000373952:R685K	R	-	2	0	FANCA	88365684	0.000000	0.05858	0.000000	0.03702	0.159000	0.22180	-3.269000	0.00532	-0.762000	0.04664	0.551000	0.68910	AGG		0.517	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			
FAT1	2195	broad.mit.edu;ucsc.edu	37	4	187549318	187549318	+	Silent	SNP	C	C	T	rs373225972		TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:187549318C>T	ENST00000441802.2	-	9	5009	c.4800G>A	c.(4798-4800)tcG>tcA	p.S1600S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1600	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S1600S(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTGACTCGATCGAGTACAGCA	0.448										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												2	Substitution - coding silent(2)	kidney(2)						C		0,4034		0,0,2017	37.0	38.0	38.0		4800	-11.0	0.0	4		38	1,8371		0,1,4185	no	coding-synonymous	FAT1	NM_005245.3		0,1,6202	TT,TC,CC		0.0119,0.0,0.0081		1600/4589	187549318	1,12405	2017	4186	6203	SO:0001819	synonymous_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4800G>A	4.37:g.187549318C>T		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000441802.2	37	CCDS47177.1																																																																																				0.448	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3		NM_005245	
FER1L6	654463	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	125072866	125072866	+	Silent	SNP	C	C	T	rs369624500		TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:125072866C>T	ENST00000522917.1	+	24	3269	c.3063C>T	c.(3061-3063)tgC>tgT	p.C1021C	FER1L6-AS2_ENST00000601180.1_RNA|FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.C1021C	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1021						integral component of membrane (GO:0016021)		p.C1021C(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCATTGAGTGCGGAGGACAAG	0.547																																																	1	Substitution - coding silent(1)	kidney(1)											144.0	126.0	132.0					8																	125072866		2203	4300	6503	SO:0001819	synonymous_variant	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3063C>T	8.37:g.125072866C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000522917.1	37	CCDS43767.1																																																																																				0.547	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1		NM_001039112	
FIZ1	84922	broad.mit.edu;hgsc.bcm.edu	37	19	56109181	56109181	+	Silent	SNP	G	G	A	rs189301284		TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:56109181G>A	ENST00000221665.3	-	2	140	c.51C>T	c.(49-51)gcC>gcT	p.A17A	ZNF524_ENST00000301073.3_5'Flank|FIZ1_ENST00000592585.1_Silent_p.A17A	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	17					positive regulation of protein phosphorylation (GO:0001934)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|receptor tyrosine kinase binding (GO:0030971)	p.A17A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CCCTGGGGGCGGCAGCGGCGG	0.672													G|||	1	0.000199681	0.0	0.0014	5008	,	,		10693	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)											17.0	18.0	18.0					19																	56109181		2200	4299	6499	SO:0001819	synonymous_variant	84922			AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"""Zinc fingers, C2H2-type"""	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.51C>T	19.37:g.56109181G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A2RU72|Q6ZMJ7	Silent	SNP	ENST00000221665.3	37	CCDS12928.1																																																																																				0.672	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453350.1		NM_032836	
FMN2	56776	hgsc.bcm.edu	37	1	240371023	240371055	+	In_Frame_Del	DEL	CCCGGAGCAGGAATACCTCCTCCACCCCCTCTA	CCCGGAGCAGGAATACCTCCTCCACCCCCTCTA	-	rs150102515|rs138468405|rs369734693|rs376697094|rs201199944|rs140720010|rs150843940|rs200418654|rs150923193|rs149715160|rs199853440	byFrequency	TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	CCCGGAGCAGGAATACCTCCTCCACCCCCTCTA	CCCGGAGCAGGAATACCTCCTCCACCCCCTCTA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:240371023_240371055delCCCGGAGCAGGAATACCTCCTCCACCCCCTCTA	ENST00000319653.9	+	5	3141_3173	c.2911_2943delCCCGGAGCAGGAATACCTCCTCCACCCCCTCTA	c.(2911-2943)cccggagcaggaatacctcctccaccccctctadel	p.PGAGIPPPPPL1092del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1092	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1121T(1)|p.P1119T(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCCCCTCTTCCCGGAGCAGGAATACCTCCTCCACCCCCTCTACCCGGAGCGG	0.708																																																	2	Substitution - Missense(2)	lung(2)								222,4036		2,218,1909						-7.6	0.0			22	197,8037		5,187,3925	no	coding	FMN2	NM_020066.4		7,405,5834	A1A1,A1R,RR		2.3925,5.2137,3.3541				419,12073				SO:0001651	inframe_deletion	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2911_2943delCCCGGAGCAGGAATACCTCCTCCACCCCCTCTA	1.37:g.240371023_240371055delCCCGGAGCAGGAATACCTCCTCCACCCCCTCTA	ENSP00000318884:p.Pro1092_Leu1102del	Somatic		WXS	Illumina HiSeq	Phase_I	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	In_Frame_Del	DEL	ENST00000319653.9	37	CCDS31069.2																																																																																				0.708	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2		XM_371352	
FSIP1	161835	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	40068678	40068678	+	Silent	SNP	T	T	A			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:40068678T>A	ENST00000350221.3	-	2	257	c.48A>T	c.(46-48)tcA>tcT	p.S16S	RP11-37C7.1_ENST00000558616.1_RNA	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	16								p.S16S(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TTCTTGAATTTGAAGCTGGTT	0.358																																																	1	Substitution - coding silent(1)	kidney(1)											131.0	128.0	129.0					15																	40068678		2203	4300	6503	SO:0001819	synonymous_variant	161835			BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.48A>T	15.37:g.40068678T>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6X2C8|Q86Y89	Silent	SNP	ENST00000350221.3	37	CCDS10050.1																																																																																				0.358	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2		NM_152597	
FZR1	51343	broad.mit.edu;hgsc.bcm.edu	37	19	3522955	3522955	+	5'Flank	SNP	C	C	A			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:3522955C>A	ENST00000395095.3	+	0	0				FZR1_ENST00000313639.8_5'Flank|SNORD38_ENST00000516599.1_RNA|FZR1_ENST00000441788.2_5'UTR	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)						activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCTGCAGGCTAACCTTGCC	0.677																																																	0													48.0	50.0	49.0					19																	3522955		2203	4296	6499	SO:0001631	upstream_gene_variant	51343			AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11			19.37:g.3522955C>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_I	O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Splice_Site	SNP	ENST00000395095.3	37	CCDS45916.1																																																																																				0.677	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2		NM_016263	
GGA1	26088	broad.mit.edu;hgsc.bcm.edu	37	22	38010280	38010280	+	Splice_Site	SNP	G	G	A			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:38010280G>A	ENST00000343632.4	+	2	513	c.127G>A	c.(127-129)Ggg>Agg	p.G43R	GGA1_ENST00000406772.1_5'UTR|GGA1_ENST00000414350.3_Splice_Site_p.G43R|GGA1_ENST00000325180.8_Splice_Site_p.G43R|GGA1_ENST00000405147.3_Splice_Site_p.G43R|GGA1_ENST00000381756.5_Splice_Site_p.G43R|GGA1_ENST00000337437.4_Splice_Site_p.G43R	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	43	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.G43R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GGACTTTGAGGGGTAGGTGGC	0.592																																																	1	Substitution - Missense(1)	kidney(1)											79.0	67.0	71.0					22																	38010280		2203	4300	6503	SO:0001630	splice_region_variant	26088			AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.128+1G>A	22.37:g.38010280G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	ENST00000343632.4	37	CCDS13951.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948893	0.92660	.	.	ENSG00000100083	ENST00000414350;ENST00000343632;ENST00000381756;ENST00000405147;ENST00000325180;ENST00000337437;ENST00000449944	T;T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89;1.89	4.41	4.41	0.53225	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.000000	0.85682	D	0.000000	T	0.61413	0.2345	M	0.93106	3.38	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.999;1.0;0.999;0.989	T	0.73802	-0.3868	10	0.87932	D	0	-33.5231	17.1826	0.86858	0.0:0.0:1.0:0.0	.	43;43;43;43	Q6IC75;Q86YA9;Q9UJY5;Q8NCS6	.;.;GGA1_HUMAN;.	R	43;43;43;43;43;43;35	ENSP00000414387:G43R;ENSP00000341344:G43R;ENSP00000371175:G43R;ENSP00000384030:G43R;ENSP00000321288:G43R;ENSP00000338647:G43R;ENSP00000390416:G35R	ENSP00000321288:G43R	G	+	1	0	GGA1	36340226	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	9.399000	0.97285	2.287000	0.76781	0.462000	0.41574	GGG		0.592	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3		NM_013365	Missense_Mutation
GON4L	54856	broad.mit.edu;hgsc.bcm.edu	37	1	155753882	155753882	+	Splice_Site	SNP	T	T	G			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:155753882T>G	ENST00000368331.1	-	14	1837		c.e14-2		GON4L_ENST00000361040.5_Splice_Site|GON4L_ENST00000437809.1_Splice_Site|GON4L_ENST00000271883.5_Splice_Site|GON4L_ENST00000471341.1_Splice_Site	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.?(3)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATCTTGGAACTGTGGGCAAAG	0.473																																																	3	Unknown(3)	kidney(3)											127.0	105.0	112.0					1																	155753882		2203	4298	6501	SO:0001630	splice_region_variant	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1789-2A>C	1.37:g.155753882T>G		Somatic		WXS	Illumina HiSeq	Phase_I	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Splice_Site	SNP	ENST00000368331.1	37		.	.	.	.	.	.	.	.	.	.	T	16.61	3.171982	0.57584	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040;ENST00000368327	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5988	0.56485	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GON4L	154020506	1.000000	0.71417	0.957000	0.39632	0.981000	0.71138	5.799000	0.69101	2.049000	0.60858	0.482000	0.46254	.		0.473	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_032292	Intron
GTF2H1	2965	broad.mit.edu;ucsc.edu	37	11	18357301	18357301	+	Splice_Site	SNP	G	G	T			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:18357301G>T	ENST00000265963.4	+	3	315	c.155G>T	c.(154-156)tGc>tTc	p.C52F	GTF2H1_ENST00000524753.4_5'Flank|GTF2H1_ENST00000531757.1_3'UTR|GTF2H1_ENST00000534641.1_Intron|GTF2H1_ENST00000453096.2_Splice_Site_p.C52F	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	52					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.C52F(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						TTCTTTTTAGGCCAGAAAATT	0.423								Nucleotide excision repair (NER)																																									1	Substitution - Missense(1)	kidney(1)											80.0	73.0	76.0					11																	18357301		2199	4293	6492	SO:0001630	splice_region_variant	2965				CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4655	protein-coding gene	gene with protein product		189972	"""general transcription factor IIH, polypeptide 1 (62kD subunit)"""			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.155-1G>T	11.37:g.18357301G>T		Somatic		WXS	Illumina GAIIx	Phase_I	B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Missense_Mutation	SNP	ENST00000265963.4	37	CCDS7838.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801169	0.90538	.	.	ENSG00000110768	ENST00000453096;ENST00000525831;ENST00000265963	T;T	0.21932	1.98;1.98	5.75	5.75	0.90469	TFIIH p62 subunit, N-terminal (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.30885	0.0779	L	0.29908	0.895	0.80722	D	1	P	0.46987	0.888	P	0.54664	0.758	T	0.00548	-1.1677	9	.	.	.	.	19.9577	0.97228	0.0:0.0:1.0:0.0	.	52	P32780	TF2H1_HUMAN	F	52	ENSP00000393638:C52F;ENSP00000265963:C52F	.	C	+	2	0	GTF2H1	18313877	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.175000	0.94831	2.714000	0.92807	0.563000	0.77884	TGC		0.423	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2		NM_005316	Missense_Mutation
H1F0	3005	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	38201974	38201974	+	Silent	SNP	C	C	A	rs370894514	byFrequency	TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:38201974C>A	ENST00000340857.2	+	1	861	c.423C>A	c.(421-423)acC>acA	p.T141T	GCAT_ENST00000323205.6_5'Flank|GCAT_ENST00000248924.6_5'Flank	NM_005318.3	NP_005309.1	P07305	H10_HUMAN	H1 histone family, member 0	141					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|nucleosome assembly (GO:0006334)	actin cytoskeleton (GO:0015629)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.T141T(1)		cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7	Melanoma(58;0.045)					CCAAAGCCACCCCGGTCAAGA	0.532																																					NSCLC(191;1872 2984 30230 41544)|Esophageal Squamous(4;11 371 39444 52196)												1	Substitution - coding silent(1)	kidney(1)											61.0	65.0	64.0					22																	38201974		2202	4300	6502	SO:0001819	synonymous_variant	3005			X03473	CCDS13956.1	22q13.1	2011-01-27			ENSG00000189060	ENSG00000189060		"""Histones / Replication-independent"""	4714	protein-coding gene	gene with protein product	"""H1.0, H1(0), H1-0"""	142708		H1FV		3084796	Standard	NM_005318		Approved	H10	uc003aty.3	P07305	OTTHUMG00000150659	ENST00000340857.2:c.423C>A	22.37:g.38201974C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2R6I0|B4DRD6|Q6FG88|Q8N6R3	Silent	SNP	ENST00000340857.2	37	CCDS13956.1																																																																																				0.532	H1F0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319453.1		NM_005318	
HDAC1	3065	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	32796451	32796451	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:32796451C>T	ENST00000373548.3	+	9	1005	c.921C>T	c.(919-921)aaC>aaT	p.N307N	HDAC1_ENST00000373541.2_Silent_p.N114N|HDAC1_ENST00000490081.1_3'UTR	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	307	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|mitotic cell cycle (GO:0000278)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deacetylation (GO:0006476)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.N307N(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	CCATTCGTAACGTTGCCCGGT	0.567																																																	1	Substitution - coding silent(1)	kidney(1)											149.0	123.0	132.0					1																	32796451		2203	4300	6503	SO:0001819	synonymous_variant	3065			D50405	CCDS360.1	1p34	2008-02-05			ENSG00000116478	ENSG00000116478			4852	protein-coding gene	gene with protein product		601241		RPD3L1		8602529	Standard	NM_004964		Approved	HD1, GON-10	uc001bvb.1	Q13547	OTTHUMG00000007529	ENST00000373548.3:c.921C>T	1.37:g.32796451C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q92534	Silent	SNP	ENST00000373548.3	37	CCDS360.1																																																																																				0.567	HDAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019815.3		NM_004964	
HIVEP2	3097	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	143081369	143081369	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:143081369G>C	ENST00000367604.1	-	8	6695	c.6056C>G	c.(6055-6057)cCt>cGt	p.P2019R	HIVEP2_ENST00000367603.2_Missense_Mutation_p.P2019R|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P2019R			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2019					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P2019R(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CATACAACTAGGTATGTCCAA	0.483																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												1	Substitution - Missense(1)	kidney(1)											277.0	255.0	262.0					6																	143081369		1973	4167	6140	SO:0001583	missense	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.6056C>G	6.37:g.143081369G>C	ENSP00000356576:p.Pro2019Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247245	0.80024	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.03496	3.91;3.91;3.91	6.07	6.07	0.98685	.	0.046565	0.85682	D	0.000000	T	0.07548	0.0190	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.39981	-0.9587	10	0.87932	D	0	-18.3497	20.6525	0.99598	0.0:0.0:1.0:0.0	.	2019	P31629	ZEP2_HUMAN	R	2019	ENSP00000356576:P2019R;ENSP00000356575:P2019R;ENSP00000012134:P2019R	ENSP00000012134:P2019R	P	-	2	0	HIVEP2	143123062	1.000000	0.71417	0.778000	0.31720	0.984000	0.73092	7.282000	0.78630	2.890000	0.99128	0.585000	0.79938	CCT		0.483	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			
HOXC6	3223	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	54422672	54422672	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:54422672T>C	ENST00000243108.4	+	1	531	c.367T>C	c.(367-369)Tac>Cac	p.Y123H	RP11-834C11.12_ENST00000513209.1_Intron|HOXC6_ENST00000394331.3_Missense_Mutation_p.Y41H|HOXC4_ENST00000303406.4_Intron|RP11-834C11.14_ENST00000512206.1_RNA	NM_004503.3	NP_004494.1	P09630	HXC6_HUMAN	homeobox C6	123					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.Y123H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TATCCAGATTTACCCCTGGAT	0.468																																																	1	Substitution - Missense(1)	kidney(1)											88.0	94.0	92.0					12																	54422672		2203	4300	6503	SO:0001583	missense	3223				CCDS8871.1, CCDS41792.1	12q13.13	2011-06-20	2005-12-22		ENSG00000197757	ENSG00000197757		"""Homeoboxes / ANTP class : HOXL subclass"""	5128	protein-coding gene	gene with protein product		142972	"""homeo box C6"""	HOX3C, HOX3		1973146, 1358459	Standard	NM_153693		Approved		uc001sev.3	P09630	OTTHUMG00000160027	ENST00000243108.4:c.367T>C	12.37:g.54422672T>C	ENSP00000243108:p.Tyr123His	Somatic		WXS	Illumina HiSeq	Phase_I	B2RBV2|Q6DK09	Missense_Mutation	SNP	ENST00000243108.4	37	CCDS8871.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.544368	0.65198	.	.	ENSG00000197757	ENST00000504315;ENST00000509328;ENST00000394331;ENST00000243108	D;D	0.95622	-3.76;-3.76	5.53	5.53	0.82687	Homeobox protein, antennapedia type, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98018	0.9347	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	D	0.98982	1.0805	10	0.87932	D	0	.	14.7802	0.69760	0.0:0.0:0.0:1.0	.	123	P09630	HXC6_HUMAN	H	41;41;41;123	ENSP00000377864:Y41H;ENSP00000243108:Y123H	ENSP00000243108:Y123H	Y	+	1	0	HOXC6	52708939	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.441000	0.80485	2.324000	0.78689	0.533000	0.62120	TAC		0.468	HOXC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358943.2			
IFT172	26160	hgsc.bcm.edu;ucsc.edu	37	2	27684150	27684150	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:27684150delC	ENST00000260570.3	-	22	2531	c.2428delG	c.(2428-2430)gaafs	p.E810fs		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	810					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCGTAGAGTTCCCCCTTGATA	0.567																																																	0													117.0	105.0	109.0					2																	27684150		2203	4300	6503	SO:0001589	frameshift_variant	26160			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2428delG	2.37:g.27684150delC	ENSP00000260570:p.Glu810fs	Somatic		WXS	Illumina HiSeq	Phase_I	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Frame_Shift_Del	DEL	ENST00000260570.3	37	CCDS1755.1																																																																																				0.567	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2		NM_015662	
IL7R	3575	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	35871222	35871222	+	Silent	SNP	G	G	T			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:35871222G>T	ENST00000303115.3	+	4	573	c.444G>T	c.(442-444)gtG>gtT	p.V148V	IL7R_ENST00000506850.1_Silent_p.V148V|IL7R_ENST00000343305.4_Silent_p.V148V	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	148	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)	p.V148V(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ACTTTGTGGTGACATTTAATA	0.388			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																																	Dom	yes		5	5p13	146661	interleukin 7 receptor	yes	L	1	Substitution - coding silent(1)	kidney(1)											81.0	79.0	79.0					5																	35871222		2203	4300	6503	SO:0001819	synonymous_variant	3575			M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.444G>T	5.37:g.35871222G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Silent	SNP	ENST00000303115.3	37	CCDS3911.1																																																																																				0.388	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			
INTS2	57508	broad.mit.edu;hgsc.bcm.edu	37	17	60004006	60004006	+	Silent	SNP	T	T	G	rs371963660		TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:60004006T>G	ENST00000444766.3	-	2	99	c.24A>C	c.(22-24)atA>atC	p.I8I	INTS2_ENST00000251334.6_5'UTR	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	8					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)		p.I8I(1)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						ATTCAGTCATTATTACTGTTT	0.358																																																	1	Substitution - coding silent(1)	kidney(1)											51.0	48.0	49.0					17																	60004006		1873	4107	5980	SO:0001819	synonymous_variant	57508			AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.24A>C	17.37:g.60004006T>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q9ULD3	Silent	SNP	ENST00000444766.3	37	CCDS45750.1																																																																																				0.358	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1		NM_020748	
IPO4	79711	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24651164	24651164	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:24651164T>G	ENST00000354464.6	-	26	2980	c.2804A>C	c.(2803-2805)cAg>cCg	p.Q935P	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	935					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)		p.Q935P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		AGGATACTCCTGGGCAGGGTG	0.652																																																	1	Substitution - Missense(1)	kidney(1)											32.0	39.0	37.0					14																	24651164		2070	4195	6265	SO:0001583	missense	79711			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.2804A>C	14.37:g.24651164T>G	ENSP00000346453:p.Gln935Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.014233	0.54468	.	.	ENSG00000196497	ENST00000354464;ENST00000399536	T	0.31510	1.49	5.84	4.65	0.58169	Armadillo-like helical (1);Armadillo-type fold (1);	0.568343	0.18758	N	0.131981	T	0.23532	0.0569	L	0.34521	1.04	0.35629	D	0.810054	B;B	0.24651	0.034;0.108	B;B	0.25759	0.063;0.061	T	0.20174	-1.0283	10	0.36615	T	0.2	.	10.3049	0.43674	0.1462:0.0:0.0:0.8538	.	935;935	Q8TEX9;Q8TEX9-2	IPO4_HUMAN;.	P	935;611	ENSP00000346453:Q935P	ENSP00000346453:Q935P	Q	-	2	0	IPO4	23721004	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.855000	0.39378	2.234000	0.73211	0.460000	0.39030	CAG		0.652	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4		NM_024658	
IZUMO2	126123	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50657881	50657881	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:50657881A>C	ENST00000293405.3	-	6	599	c.599T>G	c.(598-600)tTt>tGt	p.F200C		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	200						integral component of membrane (GO:0016021)		p.F200C(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						CACGAAGACAAAGACAGCCAG	0.602																																																	1	Substitution - Missense(1)	kidney(1)											134.0	155.0	148.0					19																	50657881		2130	4237	6367	SO:0001583	missense	126123			AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652		"""-"""	28518	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 41"""	C19orf41		19658160, 22957301	Standard	XM_006723007		Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.599T>G	19.37:g.50657881A>C	ENSP00000293405:p.Phe200Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Missense_Mutation	SNP	ENST00000293405.3	37	CCDS12792.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.18|13.18	2.158760|2.158760	0.38119|0.38119	.|.	.|.	ENSG00000161652|ENSG00000161652	ENST00000293405|ENST00000377000	T|.	0.44881|.	0.91|.	3.32|3.32	3.32|3.32	0.38043|0.38043	.|.	.|1.397510	.|0.05177	.|N	.|0.500501	T|T	0.36908|0.36908	0.0984|0.0984	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	D|.	0.61697|.	0.99|.	P|.	0.53450|.	0.726|.	T|T	0.40421|0.40421	-0.9564|-0.9564	9|7	0.87932|0.87932	D|D	0|0	.|.	8.325|8.325	0.32151|0.32151	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	200|.	Q6UXV1|.	IZUM2_HUMAN|.	C|V	200|165	ENSP00000293405:F200C|.	ENSP00000293405:F200C|ENSP00000366199:L165V	F|L	-|-	2|1	0|2	IZUMO2|IZUMO2	55349693|55349693	0.011000|0.011000	0.17503|0.17503	0.007000|0.007000	0.13788|0.13788	0.013000|0.013000	0.08279|0.08279	3.325000|3.325000	0.52030|0.52030	1.746000|1.746000	0.51805|0.51805	0.254000|0.254000	0.18369|0.18369	TTT|TTG		0.602	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157232.1		NM_152358	
KCTD18	130535	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	201354993	201354993	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:201354993G>C	ENST00000359878.3	-	7	1621	c.1111C>G	c.(1111-1113)Cct>Gct	p.P371A	KCTD18_ENST00000468413.1_5'Flank|KCTD18_ENST00000409157.1_Missense_Mutation_p.P371A	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	371					protein homooligomerization (GO:0051260)			p.P371A(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TGGGGTGTAGGCTTCTTGTCG	0.647																																																	1	Substitution - Missense(1)	kidney(1)											86.0	84.0	84.0					2																	201354993		2203	4300	6503	SO:0001583	missense	130535			AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 18"""				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.1111C>G	2.37:g.201354993G>C	ENSP00000352941:p.Pro371Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	ENST00000359878.3	37	CCDS2330.1	.	.	.	.	.	.	.	.	.	.	G	7.323	0.617331	0.14129	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.30714	1.52;1.52	4.61	-9.23	0.00672	.	1.051430	0.07443	N	0.897636	T	0.11110	0.0271	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25398	-1.0133	10	0.23302	T	0.38	3.0E-4	6.7388	0.23424	0.1044:0.5549:0.2452:0.0955	.	371	Q6PI47	KCD18_HUMAN	A	371	ENSP00000352941:P371A;ENSP00000386751:P371A	ENSP00000352941:P371A	P	-	1	0	KCTD18	201063238	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.089000	0.03376	-2.047000	0.00908	-0.175000	0.13238	CCT		0.647	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1		NM_152387	
KIAA1522	57648	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	33237800	33237800	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:33237800C>T	ENST00000373480.1	+	6	2946	c.2843C>T	c.(2842-2844)tCa>tTa	p.S948L	KIAA1522_ENST00000401073.2_Missense_Mutation_p.S1007L|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.S959L	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	948	Pro-rich.							p.S1007L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CGGAGCATCTCAGAGCAGCGG	0.667																																																	1	Substitution - Missense(1)	kidney(1)											24.0	31.0	29.0					1																	33237800		1953	4156	6109	SO:0001583	missense	57648			AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.2843C>T	1.37:g.33237800C>T	ENSP00000362579:p.Ser948Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	C	34	5.368537	0.95900	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.17213	2.29;2.3;2.32	4.85	4.85	0.62838	.	0.241427	0.29572	N	0.011767	T	0.40791	0.1131	M	0.61703	1.905	0.45129	D	0.998141	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.71656	0.974;0.974;0.974	T	0.21314	-1.0249	10	0.72032	D	0.01	-11.5397	18.534	0.91002	0.0:1.0:0.0:0.0	.	959;948;1007	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	L	1007;959;948	ENSP00000383851:S1007L;ENSP00000362580:S959L;ENSP00000362579:S948L	ENSP00000362579:S948L	S	+	2	0	KIAA1522	33010387	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	5.506000	0.66993	2.682000	0.91365	0.650000	0.86243	TCA		0.667	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			
KIAA1614	57710	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	180904820	180904820	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:180904820A>C	ENST00000367588.4	+	5	1830	c.1775A>C	c.(1774-1776)gAa>gCa	p.E592A	KIAA1614_ENST00000367587.1_Missense_Mutation_p.E213A	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	592								p.E592A(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CTCCACATGGAATGGATCCGG	0.637																																																	1	Substitution - Missense(1)	kidney(1)											20.0	23.0	22.0					1																	180904820		2092	4211	6303	SO:0001583	missense	57710			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.1775A>C	1.37:g.180904820A>C	ENSP00000356560:p.Glu592Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	a	12.50	1.958053	0.34565	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.58060	0.87;0.36	4.96	1.27	0.21489	.	0.479841	0.21202	N	0.078447	T	0.37625	0.1010	L	0.41824	1.3	0.31212	N	0.698528	B	0.16396	0.017	B	0.20384	0.029	T	0.27773	-1.0064	9	0.36615	T	0.2	-4.7279	5.1198	0.14854	0.6857:0.1523:0.162:0.0	.	592	Q5VZ46	K1614_HUMAN	A	592;213	ENSP00000356560:E592A;ENSP00000356559:E213A	ENSP00000356559:E213A	E	+	2	0	KIAA1614	179171443	0.047000	0.20315	0.001000	0.08648	0.040000	0.13550	1.122000	0.31295	-0.039000	0.13602	-0.386000	0.06593	GAA		0.637	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1		XM_046531	
LARP1	23367	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	154179286	154179286	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:154179286T>A	ENST00000336314.4	+	9	1306	c.1282T>A	c.(1282-1284)Ttt>Att	p.F428I		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	505	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)	p.F505I(1)|p.F428I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTGCCCTGAATTTGTTCCCCG	0.517																																																	2	Substitution - Missense(2)	kidney(2)											159.0	156.0	157.0					5																	154179286		2203	4300	6503	SO:0001583	missense	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1282T>A	5.37:g.154179286T>A	ENSP00000336721:p.Phe428Ile	Somatic		WXS	Illumina HiSeq	Phase_I	O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	T	34	5.348300	0.95807	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248;ENST00000523163;ENST00000518742	T;T;T;T;T	0.50813	1.75;1.26;1.32;0.77;0.73	6.09	6.09	0.99107	.	0.000000	0.85682	D	0.000000	T	0.68897	0.3051	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.982;0.994	T	0.66416	-0.5929	10	0.26408	T	0.33	-9.3982	16.6696	0.85262	0.0:0.0:0.0:1.0	.	505;428	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	I	428;505;300;213;112	ENSP00000336721:F428I;ENSP00000428589:F505I;ENSP00000429904:F300I;ENSP00000430438:F213I;ENSP00000431072:F112I	ENSP00000336721:F428I	F	+	1	0	LARP1	154159479	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.940000	0.87693	2.338000	0.79540	0.533000	0.62120	TTT		0.517	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1		NM_033551	
LCN1	3933	broad.mit.edu;hgsc.bcm.edu	37	9	138413417	138413417	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:138413417A>G	ENST00000263598.2	+	1	134	c.74A>G	c.(73-75)gAc>gGc	p.D25G	LCN1_ENST00000371781.3_Missense_Mutation_p.D25G	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	25					negative regulation of endopeptidase activity (GO:0010951)|proteolysis (GO:0006508)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|sensory perception of taste (GO:0050909)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.D25G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		CTGGCCTCAGACGAGGAGATT	0.662																																																	1	Substitution - Missense(1)	kidney(1)											20.0	20.0	20.0					9																	138413417		2202	4296	6498	SO:0001583	missense	3933				CCDS6991.1	9q34	2011-11-14	2011-11-01		ENSG00000160349	ENSG00000160349		"""Lipocalins"""	6525	protein-coding gene	gene with protein product	"""Von Ebner gland protein"", ""tear lipocalin"", ""lipocalin 1-like 2"", ""tear prealbumin"""	151675	"""lipocalin 1 (protein migrating faster than albumin, tear prealbumin)"", ""lipocalin 1 (tear prealbumin)"""			8276406	Standard	NM_002297		Approved	VEGP, TP, PMFA, MGC71975, TLC	uc022bpk.1	P31025	OTTHUMG00000020908	ENST00000263598.2:c.74A>G	9.37:g.138413417A>G	ENSP00000263598:p.Asp25Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T8A1	Missense_Mutation	SNP	ENST00000263598.2	37	CCDS6991.1	.	.	.	.	.	.	.	.	.	.	A	0.619	-0.822076	0.02755	.	.	ENSG00000160349	ENST00000263598;ENST00000371781	T;T	0.13089	2.62;2.62	2.78	-2.07	0.07276	Calycin-like (1);Calycin (1);	2.201110	0.01857	N	0.036341	T	0.06917	0.0176	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.29912	-0.9996	10	0.40728	T	0.16	.	3.2679	0.06871	0.4627:0.218:0.3193:0.0	.	25	P31025	LCN1_HUMAN	G	25	ENSP00000263598:D25G;ENSP00000360846:D25G	ENSP00000263598:D25G	D	+	2	0	LCN1	137553238	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.298000	0.02756	-0.338000	0.08413	-0.937000	0.02696	GAC		0.662	LCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054992.1		NM_002297	
LILRB5	10990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	54758770	54758770	+	Silent	SNP	G	G	C			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:54758770G>C	ENST00000316219.5	-	6	1190	c.1083C>G	c.(1081-1083)gcC>gcG	p.A361A	LILRB5_ENST00000449561.2_Silent_p.A361A|LILRB5_ENST00000450632.1_Silent_p.A352A|LILRB5_ENST00000345866.6_Silent_p.A261A	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	361	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.A361A(1)|p.A352A(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCGGGGGATGGGCTGCCCCCT	0.552																																																	2	Substitution - coding silent(2)	kidney(2)											69.0	68.0	68.0					19																	54758770		2203	4300	6503	SO:0001819	synonymous_variant	10990			AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1083C>G	19.37:g.54758770G>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q8N760	Silent	SNP	ENST00000316219.5	37	CCDS12885.1																																																																																				0.552	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			
MARK1	4139	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	220752837	220752837	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:220752837A>G	ENST00000366917.4	+	2	459	c.193A>G	c.(193-195)Aca>Gca	p.T65A	MARK1_ENST00000485104.1_3'UTR|MARK1_ENST00000366918.4_Missense_Mutation_p.T65A|MARK1_ENST00000402574.1_5'UTR					MAP/microtubule affinity-regulating kinase 1									p.T65A(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TTTACAAAAAACAATAGGGAA	0.428																																																	1	Substitution - Missense(1)	kidney(1)											96.0	89.0	92.0					1																	220752837		2203	4300	6503	SO:0001583	missense	4139			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.193A>G	1.37:g.220752837A>G	ENSP00000355884:p.Thr65Ala	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000366917.4	37	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	A	31	5.077407	0.94000	.	.	ENSG00000116141	ENST00000366918;ENST00000366917	T;T	0.24908	1.83;1.83	5.76	5.76	0.90799	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	L	0.42008	1.315	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.85130	0.954;0.986;0.997	T	0.38779	-0.9645	10	0.87932	D	0	.	16.0789	0.80985	1.0:0.0:0.0:0.0	.	65;65;65	B4DIB3;Q9P0L2;Q9P0L2-3	.;MARK1_HUMAN;.	A	65	ENSP00000355885:T65A;ENSP00000355884:T65A	ENSP00000355884:T65A	T	+	1	0	MARK1	218819460	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.515000	0.81761	2.192000	0.70111	0.460000	0.39030	ACA		0.428	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			
MDH1	4190	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	63834039	63834039	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:63834039T>A	ENST00000233114.8	+	9	1358	c.923T>A	c.(922-924)tTc>tAc	p.F308Y	MDH1_ENST00000539945.1_Missense_Mutation_p.F326Y|MDH1_ENST00000544381.1_Missense_Mutation_p.F219Y|MDH1_ENST00000394423.1_Missense_Mutation_p.F308Y|MDH1_ENST00000409908.1_Missense_Mutation_p.F143Y|MDH1_ENST00000409476.1_Missense_Mutation_p.F184Y	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)	308					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	diiodophenylpyruvate reductase activity (GO:0047860)|L-malate dehydrogenase activity (GO:0030060)|malic enzyme activity (GO:0004470)|NAD binding (GO:0051287)	p.F308Y(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13						ATTAATGATTTCTCACGTGAG	0.353																																																	1	Substitution - Missense(1)	kidney(1)											83.0	85.0	84.0					2																	63834039		2203	4300	6503	SO:0001583	missense	4190				CCDS1874.1, CCDS56121.1, CCDS56122.1	2p23	2012-10-02			ENSG00000014641	ENSG00000014641	1.1.1.37		6970	protein-coding gene	gene with protein product		154200					Standard	NM_005917		Approved		uc010ypv.2	P40925	OTTHUMG00000129512	ENST00000233114.8:c.923T>A	2.37:g.63834039T>A	ENSP00000233114:p.Phe308Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B2R5V5|B4DUN2|B7Z3I7|F5H098|Q6I9V0	Missense_Mutation	SNP	ENST00000233114.8	37	CCDS1874.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.985349	0.93044	.	.	ENSG00000014641	ENST00000233114;ENST00000409908;ENST00000409476;ENST00000539945;ENST00000544381;ENST00000394423	T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	5.76	5.76	0.90799	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.041315	0.85682	D	0.000000	T	0.81283	0.4790	M	0.72576	2.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.82756	-0.0300	10	0.62326	D	0.03	-24.9208	16.3786	0.83431	0.0:0.0:0.0:1.0	.	326;308	F5H098;P40925	.;MDHC_HUMAN	Y	308;143;184;326;219;308	ENSP00000233114:F308Y;ENSP00000386743:F143Y;ENSP00000386719:F184Y;ENSP00000438144:F326Y;ENSP00000446395:F219Y;ENSP00000377945:F308Y	ENSP00000233114:F308Y	F	+	2	0	MDH1	63687543	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.698000	0.84413	2.323000	0.78572	0.528000	0.53228	TTC		0.353	MDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251687.1			
MFRP	83552	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	119212284	119212284	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:119212284C>A	ENST00000530681.1	-	13	1858	c.1714G>T	c.(1714-1716)Gac>Tac	p.D572Y	MFRP_ENST00000360167.4_Missense_Mutation_p.D454Y|C1QTNF5_ENST00000445041.2_5'UTR|C1QTNF5_ENST00000525657.1_5'Flank|C1QTNF5_ENST00000528368.1_5'Flank|MFRP_ENST00000555262.1_Missense_Mutation_p.D572Y|MFRP_ENST00000449574.2_Missense_Mutation_p.D572Y	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	572	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D572Y(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GCTTCCAGGTCAGCTGCCTCT	0.662																																																	1	Substitution - Missense(1)	kidney(1)											19.0	24.0	23.0					11																	119212284		2192	4284	6476	SO:0001583	missense	83552			AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.1714G>T	11.37:g.119212284C>A	ENSP00000456533:p.Asp572Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	ENST00000530681.1	37	CCDS8421.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.135261	0.56828	.	.	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	T;T;T	0.58506	0.33;0.33;0.33	4.22	3.29	0.37713	Frizzled domain (4);	0.272990	0.35646	N	0.003073	T	0.67126	0.2860	M	0.72624	2.21	0.32217	N	0.575737	D;D	0.65815	0.995;0.988	P;P	0.60789	0.879;0.853	T	0.72293	-0.4336	10	0.56958	D	0.05	-9.4655	7.2081	0.25919	0.0:0.734:0.1723:0.0936	.	454;572	B4DHN8;Q9BY79	.;MFRP_HUMAN	Y	572;572;454	ENSP00000450509:D572Y;ENSP00000391664:D572Y;ENSP00000353291:D454Y	ENSP00000353291:D454Y	D	-	1	0	MFRP	118717494	0.998000	0.40836	0.992000	0.48379	0.661000	0.39034	3.428000	0.52792	0.942000	0.37525	0.561000	0.74099	GAC		0.662	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1		NM_031433	
MIER1	57708	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	67450321	67450321	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:67450321T>G	ENST00000355356.3	+	13	1426	c.1277T>G	c.(1276-1278)aTt>aGt	p.I426S	MIER1_ENST00000401041.1_Missense_Mutation_p.I479S|MIER1_ENST00000401042.3_Intron|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000371016.1_Intron|MIER1_ENST00000371018.3_Missense_Mutation_p.I443S|MIER1_ENST00000357692.2_Missense_Mutation_p.I443S|MIER1_ENST00000371014.1_Intron	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	426					positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.I479S(1)|p.I426S(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						GGGTTACACATTAATGGACCA	0.353																																																	2	Substitution - Missense(2)	kidney(2)											115.0	109.0	111.0					1																	67450321		1839	4094	5933	SO:0001583	missense	57708				CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"""mesoderm induction early response 1 homolog (Xenopus laevis)"""			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.1277T>G	1.37:g.67450321T>G	ENSP00000347514:p.Ile426Ser	Somatic		WXS	Illumina HiSeq	Phase_I	C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Missense_Mutation	SNP	ENST00000355356.3	37	CCDS41348.1	.	.	.	.	.	.	.	.	.	.	T	8.935	0.964448	0.18583	.	.	ENSG00000198160	ENST00000371017;ENST00000371018;ENST00000357692;ENST00000401041;ENST00000355356	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.58	5.58	0.84498	.	0.790343	0.12580	N	0.456518	T	0.14874	0.0359	N	0.22421	0.69	0.36447	D	0.865831	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.001;0.001	T	0.02901	-1.1096	10	0.07030	T	0.85	-28.6393	11.9259	0.52819	0.0:0.0698:0.0:0.9302	.	443;426;450;443;479	Q32NC4;Q8N108-3;Q8N108;Q8N108-10;Q5TAD5	.;.;MIER1_HUMAN;.;.	S	447;443;443;479;426	ENSP00000360057:I443S;ENSP00000350321:I443S;ENSP00000383820:I479S;ENSP00000347514:I426S	ENSP00000347514:I426S	I	+	2	0	MIER1	67222909	0.003000	0.15002	0.195000	0.23364	0.823000	0.46562	1.424000	0.34848	2.248000	0.74166	0.528000	0.53228	ATT		0.353	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025491.2		NM_020948	
MYO5A	4644	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	52646191	52646191	+	Silent	SNP	T	T	G			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:52646191T>G	ENST00000399231.3	-	26	3687	c.3444A>C	c.(3442-3444)gtA>gtC	p.V1148V	MYO5A_ENST00000399233.2_Silent_p.V1148V|MYO5A_ENST00000356338.6_Silent_p.V1148V|MYO5A_ENST00000553916.1_Silent_p.V1148V|MYO5A_ENST00000358212.6_Silent_p.V1148V	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1148					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.V1148V(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGTCCAGAGGTACCTTCTTCT	0.488																																																	1	Substitution - coding silent(1)	kidney(1)											101.0	104.0	103.0					15																	52646191		1988	4171	6159	SO:0001819	synonymous_variant	4644				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.3444A>C	15.37:g.52646191T>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	CCDS42037.1																																																																																				0.488	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1		NM_000259	
NAT2	10	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	18258243	18258243	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:18258243T>C	ENST00000286479.3	+	2	837	c.730T>C	c.(730-732)Ttc>Ctc	p.F244L	NAT2_ENST00000520116.1_Missense_Mutation_p.F114L	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	244					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	arylamine N-acetyltransferase activity (GO:0004060)	p.F244L(1)		kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	CTATAGAAAATTCAATTATAA	0.393									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																								1	Substitution - Missense(1)	kidney(1)											53.0	56.0	55.0					8																	18258243		2203	4300	6503	SO:0001583	missense	10	Familial Cancer Database	incl.: Familial Head and Neck Cancer	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2		7773298	Standard	NM_000015		Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.730T>C	8.37:g.18258243T>C	ENSP00000286479:p.Phe244Leu	Somatic		WXS	Illumina HiSeq	Phase_I	O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	Missense_Mutation	SNP	ENST00000286479.3	37	CCDS6008.1	.	.	.	.	.	.	.	.	.	.	T	12.38	1.921126	0.33908	.	.	ENSG00000156006	ENST00000286479;ENST00000520116	T;T	0.02656	4.75;4.21	2.71	2.71	0.32032	.	0.075453	0.53938	D	0.000042	T	0.11836	0.0288	M	0.83692	2.655	0.31082	N	0.711808	D	0.61697	0.99	D	0.67103	0.949	T	0.01114	-1.1447	10	0.49607	T	0.09	.	7.2672	0.26235	0.0:0.0:0.0:1.0	.	244	A4Z6T7	.	L	244;114	ENSP00000286479:F244L;ENSP00000428416:F114L	ENSP00000286479:F244L	F	+	1	0	NAT2	18302523	1.000000	0.71417	0.668000	0.29813	0.152000	0.21847	6.426000	0.73374	1.480000	0.48289	0.358000	0.22013	TTC		0.393	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253380.1		NM_000015	
NCOA5	57727	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	44693847	44693847	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:44693847C>A	ENST00000290231.6	-	6	814	c.650G>T	c.(649-651)gGg>gTg	p.G217V		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G217V(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CACCTTCCGCCCCACAGACTC	0.493																																																	1	Substitution - Missense(1)	kidney(1)											163.0	141.0	148.0					20																	44693847		2203	4300	6503	SO:0001583	missense	57727				CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.650G>T	20.37:g.44693847C>A	ENSP00000290231:p.Gly217Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	ENST00000290231.6	37	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787561	0.90367	.	.	ENSG00000124160	ENST00000290231	T	0.51574	0.7	5.38	5.38	0.77491	Anticodon-binding (2);	0.046304	0.85682	D	0.000000	T	0.65719	0.2718	L	0.55834	1.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64428	-0.6410	10	0.52906	T	0.07	-14.4793	18.3063	0.90182	0.0:1.0:0.0:0.0	.	217	Q9HCD5	NCOA5_HUMAN	V	217	ENSP00000290231:G217V	ENSP00000290231:G217V	G	-	2	0	NCOA5	44127254	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.651000	0.83577	2.804000	0.96469	0.462000	0.41574	GGG		0.493	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1		NM_020967	
NOBOX	135935	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	144098145	144098145	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr7:144098145G>C	ENST00000467773.1	-	4	837	c.838C>G	c.(838-840)Cgc>Ggc	p.R280G	NOBOX_ENST00000223140.5_Missense_Mutation_p.R195G|NOBOX_ENST00000483238.1_Missense_Mutation_p.R280G	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	280					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R280G(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TTACCTGAGCGGTATAGGGTT	0.542																																																	2	Substitution - Missense(2)	kidney(2)											76.0	72.0	73.0					7																	144098145		1844	4092	5936	SO:0001583	missense	135935					7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.838C>G	7.37:g.144098145G>C	ENSP00000419457:p.Arg280Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37		.	.	.	.	.	.	.	.	.	.	G	19.11	3.762985	0.69763	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.95518	-3.73;-3.73;-3.73	5.15	5.15	0.70609	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.135341	0.49305	D	0.000145	D	0.94739	0.8302	N	0.14661	0.345	0.36463	D	0.866787	D	0.76494	0.999	D	0.77557	0.99	D	0.96285	0.9209	10	0.62326	D	0.03	-31.9255	13.9985	0.64419	0.0:0.0:1.0:0.0	.	280	O60393	NOBOX_HUMAN	G	280;280;195;69	ENSP00000419565:R280G;ENSP00000419457:R280G;ENSP00000223140:R195G	ENSP00000223140:R195G	R	-	1	0	NOBOX	143729078	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.884000	0.48562	2.671000	0.90904	0.650000	0.86243	CGC		0.542	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1		XM_001134420	
NUP35	129401	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	184016285	184016285	+	Silent	SNP	A	A	C			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:184016285A>C	ENST00000295119.4	+	5	550	c.447A>C	c.(445-447)acA>acC	p.T149T	NUP35_ENST00000409798.1_Silent_p.T132T|NUP35_ENST00000541912.1_Silent_p.T14T	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	149					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T149T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						GAAAGACGACATTATCTCCTG	0.413																																																	1	Substitution - coding silent(1)	kidney(1)											119.0	110.0	113.0					2																	184016285		2203	4300	6503	SO:0001819	synonymous_variant	129401			AF514993	CCDS2290.1, CCDS74614.1	2q32	2008-02-05			ENSG00000163002	ENSG00000163002			29797	protein-coding gene	gene with protein product		608140					Standard	XM_005246284		Approved	MP44	uc002upf.3	Q8NFH5	OTTHUMG00000132621	ENST00000295119.4:c.447A>C	2.37:g.184016285A>C		Somatic		WXS	Illumina HiSeq	Phase_I	B4DP57|B4DYB4|Q4ZFZ9|Q53S95|Q8TDJ1	Silent	SNP	ENST00000295119.4	37	CCDS2290.1																																																																																				0.413	NUP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255865.1		NM_138285	
TENM2	57451	hgsc.bcm.edu	37	5	167545365	167545366	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:167545365_167545366insG	ENST00000518659.1	+	10	1921_1922	c.1882_1883insG	c.(1882-1884)tggfs	p.W628fs	TENM2_ENST00000545108.1_Frame_Shift_Ins_p.W628fs|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000403607.2_Frame_Shift_Ins_p.W461fs|TENM2_ENST00000519204.1_Frame_Shift_Ins_p.W507fs|TENM2_ENST00000520394.1_Frame_Shift_Ins_p.W396fs	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	628	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CTACAGCGGCTGGAAAGGTGCA	0.574																																																	0																																										SO:0001589	frameshift_variant	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1884dupG	5.37:g.167545367_167545367dupG	ENSP00000429430:p.Trp628fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q9ULU2	Frame_Shift_Ins	INS	ENST00000518659.1	37																																																																																					0.574	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1		NM_001122679	
OR1L1	26737	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	125424612	125424612	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:125424612C>T	ENST00000373686.1	+	1	768	c.768C>T	c.(766-768)gtC>gtT	p.V256V	OR1L1_ENST00000309623.1_Silent_p.V206V			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V256V(1)		breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						GCTTGGCTGTCATAATGACCC	0.398																																																	1	Substitution - coding silent(1)	kidney(1)											191.0	188.0	189.0					9																	125424612		2203	4300	6503	SO:0001819	synonymous_variant	26737				CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"""GPCR / Class A : Olfactory receptors"""	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.768C>T	9.37:g.125424612C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5T7Z3|Q6IFN2	Silent	SNP	ENST00000373686.1	37																																																																																					0.398	OR1L1-201	KNOWN	basic	protein_coding	protein_coding				
ORC1	4998	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	52851529	52851529	+	Silent	SNP	T	T	A			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:52851529T>A	ENST00000371568.3	-	9	1694	c.1476A>T	c.(1474-1476)cgA>cgT	p.R492R	ORC1_ENST00000371566.1_Silent_p.R492R	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	492					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R492R(1)		breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGTACCTCAGTCGGGCTTCCT	0.542																																																	1	Substitution - coding silent(1)	kidney(1)											37.0	35.0	36.0					1																	52851529		2203	4300	6503	SO:0001819	synonymous_variant	4998				CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.1476A>T	1.37:g.52851529T>A		Somatic		WXS	Illumina HiSeq	Phase_I	D3DQ34|Q13471|Q5T0F5	Silent	SNP	ENST00000371568.3	37	CCDS566.1																																																																																				0.542	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1		NM_004153	
PDXP	57026	broad.mit.edu;hgsc.bcm.edu	37	22	38055358	38055358	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr22:38055358C>G	ENST00000215904.6	+	1	625	c.569C>G	c.(568-570)aCc>aGc	p.T190S	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000599616.1_Intron	NM_020315.4	NP_064711.1	Q96GD0	PLPP_HUMAN	pyridoxal (pyridoxine, vitamin B6) phosphatase	190					actin rod assembly (GO:0031247)|cellular response to ATP (GO:0071318)|positive regulation of actin filament depolymerization (GO:0030836)|protein dephosphorylation (GO:0006470)|pyridoxal phosphate catabolic process (GO:0032361)|regulation of cytokinesis (GO:0032465)|regulation of mitosis (GO:0007088)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heat shock protein binding (GO:0031072)|magnesium ion binding (GO:0000287)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|pyridoxal phosphatase activity (GO:0033883)	p.T190S(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(2)	9	Melanoma(58;0.0574)					GGCAGCCGGACCCCTGGTGAG	0.711																																																	1	Substitution - Missense(1)	kidney(1)											12.0	14.0	13.0					22																	38055358		2003	3968	5971	SO:0001583	missense	57026			BC064922	CCDS13953.1	22q12.3	2005-08-16			ENSG00000241360	ENSG00000241360			30259	protein-coding gene	gene with protein product		609246				14522954	Standard	NM_020315		Approved	dJ37E16.5, FLJ32703		Q96GD0	OTTHUMG00000044618	ENST00000215904.6:c.569C>G	22.37:g.38055358C>G	ENSP00000215904:p.Thr190Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q9UGY2	Missense_Mutation	SNP	ENST00000215904.6	37	CCDS13953.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.161767	0.57368	.	.	ENSG00000241360	ENST00000215904	T	0.28454	1.61	4.64	4.64	0.57946	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);Nitrophenylphosphatase-like  domain (1);	.	.	.	.	T	0.22003	0.0530	N	0.17674	0.51	0.80722	D	1	P	0.47484	0.896	B	0.37731	0.257	T	0.11641	-1.0579	9	0.62326	D	0.03	-18.9083	17.6881	0.88261	0.0:1.0:0.0:0.0	.	190	Q96GD0	PLPP_HUMAN	S	190	ENSP00000215904:T190S	ENSP00000215904:T190S	T	+	2	0	PDXP	36385304	1.000000	0.71417	0.998000	0.56505	0.713000	0.41058	2.484000	0.45242	2.412000	0.81896	0.462000	0.41574	ACC		0.711	PDXP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104105.2		NM_020315	
PITRM1	10531	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	3197825	3197825	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:3197825C>T	ENST00000224949.4	-	14	1613	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.E495K|PITRM1_ENST00000380989.2_Missense_Mutation_p.E527K|PITRM1_ENST00000380994.1_Missense_Mutation_p.E85K|PITRM1-AS1_ENST00000598280.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	527					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.E527K(1)		breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GACAGAGCCTCGACCTTCTGC	0.557																																																	1	Substitution - Missense(1)	kidney(1)											126.0	131.0	129.0					10																	3197825		2049	4204	6253	SO:0001583	missense	10531			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.1579G>A	10.37:g.3197825C>T	ENSP00000224949:p.Glu527Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	CCDS59208.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.264|0.264	-0.997331|-0.997331	0.02145|0.02145	.|.	.|.	ENSG00000107959|ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104|ENST00000430362	T;T;T;T|.	0.20881|.	2.04;2.04;2.04;2.04|.	5.37|5.37	-5.36|-5.36	0.02689|0.02689	Peptidase M16C associated (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);|.	1.189430|.	0.05448|.	N|.	0.548869|.	T|T	0.14787|0.14787	0.0357|0.0357	N|N	0.02802|0.02802	-0.49|-0.49	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B|.	0.06786|.	0.001;0.001;0.0;0.0;0.0;0.001|.	B;B;B;B;B;B|.	0.06405|.	0.001;0.002;0.001;0.002;0.002;0.002|.	T|T	0.30650|0.30650	-0.9971|-0.9971	10|5	0.07990|.	T|.	0.79|.	.|.	14.9198|14.9198	0.70829|0.70829	0.0:0.5308:0.0:0.4692|0.0:0.5308:0.0:0.4692	.|.	520;495;527;527;527;520|.	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07|.	.;.;.;.;PREP_HUMAN;.|.	K|Q	527;520;527;85;495|163	ENSP00000224949:E527K;ENSP00000370377:E527K;ENSP00000370382:E85K;ENSP00000401201:E495K|.	ENSP00000224949:E527K|.	E|R	-|-	1|2	0|0	PITRM1|PITRM1	3187825|3187825	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.503000|-1.503000	0.02277|0.02277	-0.749000|-0.749000	0.04747|0.04747	-0.214000|-0.214000	0.12660|0.12660	GAG|CGA		0.557	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			
PLA2G15	23659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	68283347	68283347	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr16:68283347C>G	ENST00000219345.5	+	2	365	c.282C>G	c.(280-282)atC>atG	p.I94M	PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000413021.2_Intron|PLA2G15_ENST00000566188.1_Missense_Mutation_p.I94M	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	94				I -> T (in Ref. 4; BAD96510). {ECO:0000305}.	ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)	p.I94M(1)		kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						TTGACAATATCAGGTGGGGGC	0.547																																																	1	Substitution - Missense(1)	kidney(1)											71.0	65.0	67.0					16																	68283347		2198	4300	6498	SO:0001583	missense	23659			AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"""lysophospholipase 3 (lysosomal phospholipase A2)"""	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.282C>G	16.37:g.68283347C>G	ENSP00000219345:p.Ile94Met	Somatic		WXS	Illumina HiSeq	Phase_I	B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Missense_Mutation	SNP	ENST00000219345.5	37	CCDS10864.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513809	0.27123	.	.	ENSG00000103066	ENST00000219345	D	0.95342	-3.68	5.38	5.38	0.77491	.	0.140698	0.64402	D	0.000005	D	0.89560	0.6750	N	0.13140	0.3	0.80722	D	1	P;B	0.39535	0.677;0.251	B;B	0.43445	0.42;0.108	D	0.87035	0.2137	10	0.05620	T	0.96	-22.8038	19.1027	0.93281	0.0:1.0:0.0:0.0	.	94;94	B4DJW4;Q8NCC3	.;PAG15_HUMAN	M	94	ENSP00000219345:I94M	ENSP00000219345:I94M	I	+	3	3	PLA2G15	66840848	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.683000	0.37638	2.692000	0.91855	0.561000	0.74099	ATC		0.547	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2		NM_012320	
POLQ	10721	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	121187276	121187276	+	Nonsense_Mutation	SNP	G	G	A	rs369712134		TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr3:121187276G>A	ENST00000264233.5	-	23	6849	c.6721C>T	c.(6721-6723)Cga>Tga	p.R2241*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2241					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.R2376*(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAGGTTATTCGTCCTAAAATC	0.333								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												1	Substitution - Nonsense(1)	kidney(1)						G	stop/ARG	0,4406		0,0,2203	105.0	114.0	111.0		6721	4.3	1.0	3		111	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	POLQ	NM_199420.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2241/2591	121187276	1,13005	2203	4300	6503	SO:0001587	stop_gained	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6721C>T	3.37:g.121187276G>A	ENSP00000264233:p.Arg2241*	Somatic		WXS	Illumina HiSeq	Phase_I	O95160|Q6VMB5	Nonsense_Mutation	SNP	ENST00000264233.5	37	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	48	13.890624	0.99768	0.0	1.16E-4	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	.	.	.	5.25	4.35	0.52113	.	0.116303	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4323	0.75112	0.0:0.0:0.86:0.14	.	.	.	.	X	1864;2241;2377	.	ENSP00000264233:R2241X	R	-	1	2	POLQ	122669966	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	3.716000	0.54904	1.542000	0.49330	0.655000	0.94253	CGA		0.333	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1		NM_199420	
PPFIA2	8499	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	81675169	81675169	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:81675169C>T	ENST00000549396.1	-	27	3239	c.3079G>A	c.(3079-3081)Gaa>Aaa	p.E1027K	PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E1012K|PPFIA2_ENST00000550584.2_Missense_Mutation_p.E1027K|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E1006K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E926K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E922K|PPFIA2_ENST00000541017.1_Missense_Mutation_p.E213K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E1021K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E874K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E1012K|PPFIA2_ENST00000541570.2_Missense_Mutation_p.E563K|RP11-121G22.3_ENST00000549161.1_lincRNA	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1027	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.E1027K(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GGAAGCCATTCATTTCCAATC	0.393																																																	1	Substitution - Missense(1)	kidney(1)											121.0	116.0	117.0					12																	81675169		1846	4118	5964	SO:0001583	missense	8499			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3079G>A	12.37:g.81675169C>T	ENSP00000450337:p.Glu1027Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.033880|4.033880	0.75504|0.75504	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000550018	T;T;T;T;T;T;T;T;T|.	0.56611|.	0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45|.	5.61|5.61	4.72|4.72	0.59763|0.59763	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71771|0.71771	0.3379|0.3379	M|M	0.68952|0.68952	2.095|2.095	0.58432|0.58432	D|D	0.999998|0.999998	D|.	0.53619|.	0.961|.	D|.	0.75020|.	0.985|.	T|T	0.71922|0.71922	-0.4446|-0.4446	10|5	0.62326|.	D|.	0.03|.	-20.6198|-20.6198	14.9868|14.9868	0.71353|0.71353	0.0:0.9311:0.0:0.0689|0.0:0.9311:0.0:0.0689	.|.	1027|.	O75334|.	LIPA2_HUMAN|.	K|I	1027;1012;563;213;926;1038;1012;1021;922;1006|129	ENSP00000450337:E1027K;ENSP00000450298:E1012K;ENSP00000438337:E563K;ENSP00000445532:E213K;ENSP00000385093:E926K;ENSP00000327416:E1012K;ENSP00000449338:E1021K;ENSP00000388373:E922K;ENSP00000447868:E1006K|.	ENSP00000327416:E1012K|.	E|M	-|-	1|3	0|0	PPFIA2|PPFIA2	80199300|80199300	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.975000|0.975000	0.68041|0.68041	7.722000|7.722000	0.84778|0.84778	1.511000|1.511000	0.48818|0.48818	0.555000|0.555000	0.69702|0.69702	GAA|ATG		0.393	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			
PPWD1	23398	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	64859225	64859225	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:64859225A>T	ENST00000261308.5	+	1	160	c.88A>T	c.(88-90)Aga>Tga	p.R30*	CENPK_ENST00000510354.1_5'Flank|PPWD1_ENST00000535264.1_5'UTR|PPWD1_ENST00000538977.1_5'UTR|CENPK_ENST00000514814.1_5'Flank|CENPK_ENST00000508421.1_5'Flank|CENPK_ENST00000506282.2_5'Flank|CENPK_ENST00000396679.1_5'Flank|CENPK_ENST00000510693.1_5'Flank	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	30					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R30*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		ACTCAGCGAAAGAGAGCTGGC	0.567																																																	1	Substitution - Nonsense(1)	kidney(1)											73.0	73.0	73.0					5																	64859225		2203	4300	6503	SO:0001587	stop_gained	23398			AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"""WD repeat domain containing"""	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.88A>T	5.37:g.64859225A>T	ENSP00000261308:p.Arg30*	Somatic		WXS	Illumina HiSeq	Phase_I	B4DWR9|Q15002|Q7KZ89	Nonsense_Mutation	SNP	ENST00000261308.5	37	CCDS3985.1	.	.	.	.	.	.	.	.	.	.	A	17.97	3.517835	0.64634	.	.	ENSG00000113593	ENST00000261308	.	.	.	4.85	-0.279	0.12890	.	0.290387	0.31821	N	0.007018	.	.	.	.	.	.	0.20489	N	0.999894	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	1.2934	0.02065	0.3925:0.2692:0.2143:0.1241	.	.	.	.	X	30	.	ENSP00000261308:R30X	R	+	1	2	PPWD1	64894981	0.000000	0.05858	0.004000	0.12327	0.106000	0.19336	-0.144000	0.10280	0.074000	0.16767	0.482000	0.46254	AGA		0.567	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2		NM_015342	
PQLC3	130814	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	11304356	11304356	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:11304356C>A	ENST00000295083.3	+	4	498	c.323C>A	c.(322-324)gCc>gAc	p.A108D	PQLC3_ENST00000476787.1_Intron|PQLC3_ENST00000402361.1_Missense_Mutation_p.A108D|PQLC3_ENST00000441908.2_Missense_Mutation_p.A108D	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	108						integral component of membrane (GO:0016021)		p.A108D(1)		kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		TTCATCCTTGCCCTGCAGAAG	0.458																																																	1	Substitution - Missense(1)	kidney(1)											207.0	152.0	171.0					2																	11304356		2203	4300	6503	SO:0001583	missense	130814			BC027625	CCDS1679.1, CCDS62856.1, CCDS62857.1	2p25.1	2004-02-05	2005-07-19	2005-07-19	ENSG00000162976	ENSG00000162976			28503	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 22"""	C2orf22		12477932	Standard	NM_001282711		Approved	MGC33602	uc002rbc.3	Q8N755	OTTHUMG00000119055	ENST00000295083.3:c.323C>A	2.37:g.11304356C>A	ENSP00000295083:p.Ala108Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B2R8K1|B4DWA4	Missense_Mutation	SNP	ENST00000295083.3	37	CCDS1679.1	.	.	.	.	.	.	.	.	.	.	C	7.080	0.570038	0.13560	.	.	ENSG00000162976	ENST00000445402;ENST00000295083;ENST00000441908;ENST00000402361	D;T;D;D	0.86769	-2.17;-0.57;-2.14;-2.1	5.68	3.86	0.44501	.	0.267496	0.42294	D	0.000733	T	0.80319	0.4601	L	0.38175	1.15	0.09310	N	0.999999	B;B	0.29341	0.242;0.242	B;B	0.24541	0.054;0.054	T	0.66810	-0.5829	10	0.34782	T	0.22	-27.8055	13.2975	0.60305	0.0:0.603:0.397:0.0	.	108;108	B4DWA4;Q8N755	.;PQLC3_HUMAN	D	131;108;108;108	ENSP00000410430:A131D;ENSP00000295083:A108D;ENSP00000406148:A108D;ENSP00000384129:A108D	ENSP00000295083:A108D	A	+	2	0	PQLC3	11221807	0.775000	0.28604	0.016000	0.15963	0.566000	0.35808	2.938000	0.48987	0.724000	0.32296	0.561000	0.74099	GCC		0.458	PQLC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239266.4		NM_152391	
PRELID1	27166	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	176733119	176733119	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:176733119C>G	ENST00000303204.4	+	4	665	c.453C>G	c.(451-453)ttC>ttG	p.F151L	RAB24_ENST00000393611.2_5'Flank|MXD3_ENST00000427908.2_3'UTR|RAB24_ENST00000303251.6_5'Flank|RAB24_ENST00000303270.6_5'Flank|PRELID1_ENST00000503216.1_Missense_Mutation_p.F151L			Q9Y255	PRLD1_HUMAN	PRELI domain containing 1	151	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				apoptotic process (GO:0006915)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitochondrial membrane potential (GO:0010917)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|phospholipid transport (GO:0015914)|positive regulation of cellular respiration (GO:1901857)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of phospholipid transport (GO:2001140)|positive regulation of T cell apoptotic process (GO:0070234)|regulation of membrane lipid distribution (GO:0097035)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of T cell differentiation (GO:0045580)	mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.F151L(1)		endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	7	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGCCCGATTCAAAAGCAACG	0.498																																																	1	Substitution - Missense(1)	kidney(1)											103.0	102.0	102.0					5																	176733119		2203	4300	6503	SO:0001583	missense	27166			BC013748	CCDS4415.1, CCDS64328.1	5q35.3	2010-01-18			ENSG00000169230	ENSG00000169230			30255	protein-coding gene	gene with protein product	"""protein of relevant evolutionary and lymphoid interest"", ""px19-like protein"""	605733				10784606, 14640972	Standard	NM_013237		Approved	CGI-106, PX19, PRELI	uc003mfx.4	Q9Y255	OTTHUMG00000130847	ENST00000303204.4:c.453C>G	5.37:g.176733119C>G	ENSP00000302114:p.Phe151Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B2R5F7|D6RD25|Q549N2|Q9UI13|Q9UJS9	Missense_Mutation	SNP	ENST00000303204.4	37	CCDS4415.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.79|17.79	3.475682|3.475682	0.63737|0.63737	.|.	.|.	ENSG00000169230|ENSG00000169230	ENST00000303204;ENST00000503216|ENST00000503853	T;T|.	0.29397|.	1.57;1.57|.	4.27|4.27	3.1|3.1	0.35709|0.35709	PRELI/MSF1 (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78304|0.78304	0.4262|0.4262	M|M	0.92169|0.92169	3.28|3.28	0.80722|0.80722	D|D	1|1	P;P|.	0.50943|.	0.94;0.885|.	P;P|.	0.58391|.	0.838;0.734|.	T|T	0.79624|0.79624	-0.1726|-0.1726	10|5	0.66056|.	D|.	0.02|.	-11.0755|-11.0755	8.1898|8.1898	0.31361|0.31361	0.0:0.7885:0.0:0.2115|0.0:0.7885:0.0:0.2115	.|.	151;151|.	D6RD25;Q9Y255|.	.;PRLD1_HUMAN|.	L|E	151|100	ENSP00000302114:F151L;ENSP00000427097:F151L|.	ENSP00000302114:F151L|.	F|Q	+|+	3|1	2|0	PRELID1|PRELID1	176665725|176665725	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.515000|0.515000	0.34225|0.34225	1.910000|1.910000	0.39927|0.39927	0.907000|0.907000	0.36646|0.36646	0.561000|0.561000	0.74099|0.74099	TTC|CAA		0.498	PRELID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253414.1		NM_013237	
PTEN	5728	hgsc.bcm.edu;ucsc.edu	37	10	89692920	89692921	+	Frame_Shift_Ins	INS	-	-	A	rs398123323|rs370795352		TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr10:89692920_89692921insA	ENST00000371953.3	+	5	1761_1762	c.404_405insA	c.(403-408)atatgtfs	p.C136fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	136	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		C -> Y (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P3). {ECO:0000269|PubMed:9735393}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.I135fs*44(3)|p.I135K(3)|p.I135fs*45(3)|p.Y27fs*1(2)|p.I135_A137>T(1)|p.I135del(1)|p.I135fs*6(1)|p.A121_F145del(1)|p.I135fs*12(1)|p.I135M(1)|p.T131fs*42(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGTGTAATGATATGTGCATATT	0.386		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	66	Whole gene deletion(37)|Deletion - Frameshift(11)|Insertion - Frameshift(6)|Unknown(5)|Substitution - Missense(4)|Deletion - In frame(2)|Complex - deletion inframe(1)	central_nervous_system(16)|prostate(16)|endometrium(8)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|ovary(4)|soft_tissue(1)|urinary_tract(1)|bone(1)	GRCh37	CM064180	PTEN	M																																				SO:0001589	frameshift_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.405dupA	10.37:g.89692921_89692921dupA	ENSP00000361021:p.Cys136fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	CCDS31238.1																																																																																				0.386	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1		NM_000314	
RARA	5914	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	38506145	38506145	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr17:38506145A>G	ENST00000254066.5	+	4	892	c.437A>G	c.(436-438)cAg>cGg	p.Q146R	RARA_ENST00000394086.3_Missense_Mutation_p.Q162R|RARA_ENST00000394081.3_Missense_Mutation_p.Q141R|RARA_ENST00000425707.3_Intron|RARA_ENST00000394089.2_Missense_Mutation_p.Q146R	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	146					apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)	p.Q146R(1)		breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TGCCGACTGCAGAAGTGCTTT	0.577			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL																																			Dom	yes		17	17q12	5914	"""retinoic acid receptor, alpha"""		L	1	Substitution - Missense(1)	kidney(1)											111.0	90.0	97.0					17																	38506145		2203	4300	6503	SO:0001583	missense	5914			X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"""Nuclear hormone receptors"""	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.437A>G	17.37:g.38506145A>G	ENSP00000254066:p.Gln146Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Missense_Mutation	SNP	ENST00000254066.5	37	CCDS11366.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.700325	0.48307	.	.	ENSG00000131759	ENST00000254066;ENST00000394089;ENST00000394086;ENST00000394081;ENST00000319149	D;D;D;D	0.96992	-4.2;-4.2;-4.2;-4.2	5.28	4.17	0.49024	Nuclear hormone receptor, ligand-binding (2);Zinc finger, nuclear hormone receptor-type (4);	0.120697	0.64402	D	0.000020	D	0.94637	0.8271	L	0.53729	1.69	0.58432	D	0.999998	B;B	0.18461	0.028;0.025	B;B	0.30646	0.118;0.05	D	0.91468	0.5194	10	0.62326	D	0.03	.	11.2068	0.48773	0.8457:0.1543:0.0:0.0	.	141;146	F1D8N9;P10276	.;RARA_HUMAN	R	146;146;162;141;141	ENSP00000254066:Q146R;ENSP00000377649:Q146R;ENSP00000377648:Q162R;ENSP00000377643:Q141R	ENSP00000254066:Q146R	Q	+	2	0	RARA	35759671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.332000	0.96446	0.810000	0.34279	0.533000	0.62120	CAG		0.577	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257136.2			
RBM47	54502	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	40428110	40428110	+	Silent	SNP	A	A	G			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:40428110A>G	ENST00000381793.2	-	6	1989	c.1593T>C	c.(1591-1593)atT>atC	p.I531I	RBM47_ENST00000381795.6_Silent_p.I462I|RP11-588L15.2_ENST00000514187.1_RNA|RBM47_ENST00000514014.1_Silent_p.I493I|RBM47_ENST00000295971.7_Silent_p.I531I|RBM47_ENST00000319592.4_Silent_p.I462I			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	531	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.I462I(2)|p.I531I(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGGCAGTAGGAATTCTCTGAA	0.562																																																	3	Substitution - coding silent(3)	kidney(3)											57.0	55.0	56.0					4																	40428110		2203	4300	6503	SO:0001819	synonymous_variant	54502			AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1593T>C	4.37:g.40428110A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	37	CCDS43223.1																																																																																				0.562	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2		NM_019027	
RASSF6	166824	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	74442420	74442420	+	Silent	SNP	A	A	T			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:74442420A>T	ENST00000342081.3	-	9	976	c.846T>A	c.(844-846)atT>atA	p.I282I	RASSF6_ENST00000335049.5_Silent_p.I238I|RASSF6_ENST00000307439.5_Silent_p.I250I|RASSF6_ENST00000395777.2_Silent_p.I216I	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	282	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)			p.I250I(1)|p.I282I(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GCAGTAGCGGAATGTCTGTCT	0.403																																																	2	Substitution - coding silent(2)	kidney(2)											216.0	225.0	222.0					4																	74442420		2203	4300	6503	SO:0001819	synonymous_variant	166824			AY217664	CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1	4q21.1	2008-02-22	2008-02-22		ENSG00000169435	ENSG00000169435			20796	protein-coding gene	gene with protein product		612620					Standard	NM_177532		Approved		uc003hhd.2	Q6ZTQ3	OTTHUMG00000130007	ENST00000342081.3:c.846T>A	4.37:g.74442420A>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q68DT2|Q6PDA6|Q86WG9|Q86WH0	Silent	SNP	ENST00000342081.3	37	CCDS3558.1																																																																																				0.403	RASSF6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252279.1		NM_177532	
RCAN1	1827	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	35893901	35893901	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:35893901A>T	ENST00000313806.4	-	3	612	c.482T>A	c.(481-483)cTg>cAg	p.L161Q	RCAN1_ENST00000487990.1_Missense_Mutation_p.L26Q|RCAN1_ENST00000381135.3_Missense_Mutation_p.L151Q|RCAN1_ENST00000481448.1_Missense_Mutation_p.L151Q|RCAN1_ENST00000482533.1_Missense_Mutation_p.L26Q|RCAN1_ENST00000443408.2_Missense_Mutation_p.L26Q|RCAN1_ENST00000492600.1_Missense_Mutation_p.L106Q|RCAN1_ENST00000399272.1_Missense_Mutation_p.L80Q|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000381132.2_Missense_Mutation_p.L106Q	NM_004414.5	NP_004405.3	P53805	RCAN1_HUMAN	regulator of calcineurin 1	161					blood circulation (GO:0008015)|calcineurin-NFAT signaling cascade (GO:0033173)|central nervous system development (GO:0007417)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|response to ischemia (GO:0002931)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)|signal transduction (GO:0007165)|skeletal muscle fiber development (GO:0048741)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L106Q(1)|p.L161Q(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						AGGGGAGATCAGAAACTGCTT	0.512																																																	2	Substitution - Missense(2)	kidney(2)											81.0	83.0	82.0					21																	35893901		2203	4300	6503	SO:0001583	missense	1827				CCDS13637.1, CCDS33551.1, CCDS42921.1, CCDS74788.1, CCDS74790.1	21q22.1-q22.2	2010-08-11	2007-06-26	2007-06-26	ENSG00000159200	ENSG00000159200			3040	protein-coding gene	gene with protein product		602917	"""Down syndrome critical region gene 1"""	DSCR1		8595418	Standard	XM_005260929		Approved		uc002yue.3	P53805	OTTHUMG00000086235	ENST00000313806.4:c.482T>A	21.37:g.35893901A>T	ENSP00000320768:p.Leu161Gln	Somatic		WXS	Illumina HiSeq	Phase_I	D3DSF9|O00582|O00583|Q53XT0|Q6IBC6|Q7Z555|Q96R03|Q9BU69|Q9UF15|Q9UME4	Missense_Mutation	SNP	ENST00000313806.4	37	CCDS13637.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.720107	0.89205	.	.	ENSG00000159200	ENST00000487990;ENST00000313806;ENST00000381132;ENST00000399272;ENST00000481448;ENST00000482533;ENST00000381135;ENST00000443408	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.84000	0.5376	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.97110	1.0;0.997;0.997;0.998	D	0.87042	0.2141	9	0.87932	D	0	-26.6531	15.4681	0.75419	1.0:0.0:0.0:0.0	.	106;161;80;106	B7Z1F0;P53805;P53805-3;Q6FGP2	.;RCAN1_HUMAN;.;.	Q	26;161;106;80;151;26;151;26	.	ENSP00000320768:L161Q	L	-	2	0	RCAN1	34815771	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.924000	0.92827	2.131000	0.65755	0.533000	0.62120	CTG		0.512	RCAN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194142.1			
S100A14	57402	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	153587436	153587436	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:153587436C>A	ENST00000368702.1	-	5	512	c.240G>T	c.(238-240)gaG>gaT	p.E80D	S100A16_ENST00000368706.4_5'Flank|S100A14_ENST00000368700.3_5'UTR|S100A14_ENST00000368701.1_Missense_Mutation_p.E80D|S100A14_ENST00000344616.2_Missense_Mutation_p.E80D|S100A14_ENST00000476873.1_Missense_Mutation_p.E80D|S100A16_ENST00000474991.1_5'Flank			Q9HCY8	S10AE_HUMAN	S100 calcium binding protein A14	80					apoptotic process (GO:0006915)|calcium ion homeostasis (GO:0055074)|defense response to bacterium (GO:0042742)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)	extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|chemokine receptor binding (GO:0042379)	p.E80D(1)		kidney(2)|large_intestine(1)|lung(1)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACTCCTGAACTCCAGTTTAG	0.557																																																	1	Substitution - Missense(1)	kidney(1)											76.0	76.0	76.0					1																	153587436		2203	4300	6503	SO:0001583	missense	57402			AY007220	CCDS1046.1	1q21.1	2008-02-05			ENSG00000189334	ENSG00000189334		"""S100 calcium binding proteins"""	18901	protein-coding gene	gene with protein product		607986				11944983	Standard	NM_020672		Approved	S100A15, BCMP84	uc001fce.3	Q9HCY8	OTTHUMG00000035030	ENST00000368702.1:c.240G>T	1.37:g.153587436C>A	ENSP00000357691:p.Glu80Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q5RHT0	Missense_Mutation	SNP	ENST00000368702.1	37	CCDS1046.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217975	0.58560	.	.	ENSG00000189334	ENST00000476873;ENST00000368701;ENST00000368702;ENST00000344616	T;T;T;T	0.04083	3.71;3.71;3.71;3.71	4.86	2.99	0.34606	EF-hand-like domain (1);	0.066166	0.64402	D	0.000004	T	0.02888	0.0086	L	0.44542	1.39	0.27397	N	0.954976	D	0.58970	0.984	D	0.65443	0.935	T	0.09862	-1.0655	10	0.02654	T	1	-29.9666	7.2222	0.25994	0.0:0.7978:0.0:0.2022	.	80	Q9HCY8	S10AE_HUMAN	D	80	ENSP00000420296:E80D;ENSP00000357690:E80D;ENSP00000357691:E80D;ENSP00000340463:E80D	ENSP00000340463:E80D	E	-	3	2	S100A14	151854060	1.000000	0.71417	0.995000	0.50966	0.510000	0.34073	0.386000	0.20702	0.640000	0.30582	-0.192000	0.12808	GAG		0.557	S100A14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084788.2		NM_020672	
SERPINB7	8710	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	61463591	61463591	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr18:61463591A>G	ENST00000398019.2	+	5	753	c.428A>G	c.(427-429)aAt>aGt	p.N143S	SERPINB7_ENST00000336429.2_Missense_Mutation_p.N143S|SERPINB7_ENST00000540675.1_Missense_Mutation_p.N126S|SERPINB7_ENST00000546027.1_Missense_Mutation_p.N143S	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	143					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.N143S(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CGTAATATTAATAAGTGGGTT	0.353																																																	1	Substitution - Missense(1)	kidney(1)											78.0	80.0	79.0					18																	61463591		2203	4299	6502	SO:0001583	missense	8710			AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.428A>G	18.37:g.61463591A>G	ENSP00000381101:p.Asn143Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Missense_Mutation	SNP	ENST00000398019.2	37	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.812234	0.50527	.	.	ENSG00000166396	ENST00000336429;ENST00000398019;ENST00000540675;ENST00000447428;ENST00000546027	D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-2.96;-3.13	5.56	5.56	0.83823	Serpin domain (3);	0.000000	0.56097	D	0.000024	D	0.97256	0.9103	H	0.95504	3.68	0.43029	D	0.994595	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.98662	1.0684	9	.	.	.	.	15.1782	0.72931	1.0:0.0:0.0:0.0	.	126;143	F5GZC0;O75635	.;SPB7_HUMAN	S	143;143;126;143;143	ENSP00000337212:N143S;ENSP00000381101:N143S;ENSP00000444572:N126S;ENSP00000402362:N143S;ENSP00000444861:N143S	.	N	+	2	0	SERPINB7	59614571	1.000000	0.71417	0.995000	0.50966	0.010000	0.07245	7.356000	0.79445	2.239000	0.73571	0.528000	0.53228	AAT		0.353	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1		NM_003784	
SMAD9	4093	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	37453538	37453538	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr13:37453538G>A	ENST00000399275.2	-	1	428	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	SMAD9_ENST00000379826.4_Missense_Mutation_p.R97C|SMAD9_ENST00000483941.1_5'Flank|SMAD9_ENST00000350148.5_Missense_Mutation_p.R97C			O15198	SMAD9_HUMAN	SMAD family member 9	97	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)	p.R97C(2)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TCCGGCCAGCGCCACACGCGA	0.612																																																	2	Substitution - Missense(2)	kidney(2)											33.0	36.0	35.0					13																	37453538		2203	4300	6503	SO:0001583	missense	4093				CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.289C>T	13.37:g.37453538G>A	ENSP00000382216:p.Arg97Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	ENST00000399275.2	37	CCDS45032.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615679	0.66672	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	T;T;T	0.80738	-1.41;-1.41;-1.41	5.53	5.53	0.82687	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.91778	0.7399	H	0.95539	3.685	0.80722	D	1	D;D	0.71674	0.998;0.997	P;D	0.64877	0.801;0.93	D	0.93621	0.6948	10	0.87932	D	0	.	13.4247	0.61018	0.0:0.0:0.8432:0.1568	.	97;97	O15198-2;O15198	.;SMAD9_HUMAN	C	97	ENSP00000382216:R97C;ENSP00000239885:R97C;ENSP00000369154:R97C	ENSP00000239885:R97C	R	-	1	0	SMAD9	36351538	1.000000	0.71417	1.000000	0.80357	0.259000	0.26198	6.460000	0.73518	2.599000	0.87857	0.563000	0.77884	CGC		0.612	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2		NM_005905	
SOBP	55084	broad.mit.edu;hgsc.bcm.edu	37	6	107955403	107955403	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:107955403A>G	ENST00000317357.5	+	6	2014	c.1355A>G	c.(1354-1356)cAc>cGc	p.H452R		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)									p.H452R(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		AGCCCCATGCACCGGCCCATG	0.751																																																	1	Substitution - Missense(1)	kidney(1)											13.0	16.0	15.0					6																	107955403		1811	4031	5842	SO:0001583	missense	55084			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.1355A>G	6.37:g.107955403A>G	ENSP00000318900:p.His452Arg	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000317357.5	37	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	a	17.22	3.334404	0.60853	.	.	ENSG00000112320	ENST00000317357;ENST00000230065	T	0.31510	1.49	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.36496	0.0969	L	0.48642	1.525	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.07908	-1.0748	10	0.29301	T	0.29	-12.1797	14.8249	0.70104	1.0:0.0:0.0:0.0	.	452	A7XYQ1	SOBP_HUMAN	R	452;49	ENSP00000318900:H452R	ENSP00000230065:H49R	H	+	2	0	SOBP	108062096	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.826000	0.92034	1.895000	0.54865	0.454000	0.30748	CAC		0.751	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2		NM_018013	
SPZ1	84654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	79616637	79616637	+	Silent	SNP	C	C	T			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:79616637C>T	ENST00000296739.4	+	1	848	c.603C>T	c.(601-603)aaC>aaT	p.N201N		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	201	Basic motif. {ECO:0000255}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N201N(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		ACTCTGAGAACACCGCACAAG	0.353																																																	1	Substitution - coding silent(1)	kidney(1)											70.0	64.0	66.0					5																	79616637		1826	4078	5904	SO:0001819	synonymous_variant	84654				CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.603C>T	5.37:g.79616637C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RA21|Q8N4P1|Q8N7E9	Silent	SNP	ENST00000296739.4	37	CCDS43336.1																																																																																				0.353	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1		NM_032567	
SSFA2	6744	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	182766972	182766972	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:182766972G>C	ENST00000431877.2	+	8	1371	c.1192G>C	c.(1192-1194)Gaa>Caa	p.E398Q	SSFA2_ENST00000428267.2_Missense_Mutation_p.E245Q|SSFA2_ENST00000409001.1_Missense_Mutation_p.E398Q|SSFA2_ENST00000320370.7_Missense_Mutation_p.E398Q	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	398						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E398Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ACAAAGTAAAGAAACTCAAAG	0.363																																																	1	Substitution - Missense(1)	kidney(1)											66.0	71.0	69.0					2																	182766972		2201	4298	6499	SO:0001583	missense	6744			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.1192G>C	2.37:g.182766972G>C	ENSP00000388731:p.Glu398Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	G	7.223	0.597826	0.13875	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267	T;T;T;T	0.15487	2.65;2.42;2.65;2.65	5.61	2.87	0.33458	.	1.257190	0.05280	N	0.519226	T	0.18383	0.0441	M	0.63428	1.95	0.09310	N	1	P;P;P;P	0.35272	0.493;0.493;0.493;0.493	B;B;B;B	0.31101	0.124;0.124;0.079;0.124	T	0.31166	-0.9953	10	0.23891	T	0.37	-0.5456	7.3748	0.26823	0.3913:0.0:0.6087:0.0	.	245;398;398;398	E7END2;E9PHV5;P28290;P28290-3	.;.;SSFA2_HUMAN;.	Q	398;398;398;245	ENSP00000388731:E398Q;ENSP00000314669:E398Q;ENSP00000387319:E398Q;ENSP00000409867:E245Q	ENSP00000314669:E398Q	E	+	1	0	SSFA2	182475217	0.562000	0.26586	0.146000	0.22360	0.282000	0.26991	1.410000	0.34691	0.425000	0.26087	0.650000	0.86243	GAA		0.363	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2		NM_006751	
SSTR1	6751	broad.mit.edu;hgsc.bcm.edu	37	14	38678641	38678641	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr14:38678641C>A	ENST00000267377.2	+	3	664	c.47C>A	c.(46-48)cCc>cAc	p.P16H		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	16					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.P16H(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	TCTCCTAGCCCCAGCCCGGGC	0.731																																																	1	Substitution - Missense(1)	kidney(1)											13.0	13.0	13.0					14																	38678641		2181	4227	6408	SO:0001583	missense	6751				CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.47C>A	14.37:g.38678641C>A	ENSP00000267377:p.Pro16His	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000267377.2	37	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261485	0.39995	.	.	ENSG00000139874	ENST00000267377	T	0.70631	-0.5	5.17	4.25	0.50352	.	0.665940	0.12550	N	0.459121	T	0.49575	0.1565	N	0.08118	0	0.30881	N	0.731428	B	0.20368	0.044	B	0.18561	0.022	T	0.50841	-0.8780	10	0.87932	D	0	.	7.7991	0.29164	0.1838:0.6423:0.1738:0.0	.	16	P30872	SSR1_HUMAN	H	16	ENSP00000267377:P16H	ENSP00000267377:P16H	P	+	2	0	SSTR1	37748392	0.977000	0.34250	1.000000	0.80357	0.996000	0.88848	1.100000	0.31025	2.700000	0.92200	0.563000	0.77884	CCC		0.731	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			
THOC2	57187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	122758390	122758390	+	Splice_Site	SNP	A	A	G			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:122758390A>G	ENST00000245838.8	-	26	3218		c.e26+1		THOC2_ENST00000355725.4_Splice_Site|THOC2_ENST00000491737.1_Splice_Site	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2						mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.?(2)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TATTAGTCATACCTTTTCATA	0.358																																																	2	Unknown(2)	kidney(2)											155.0	143.0	147.0					X																	122758390		1863	4080	5943	SO:0001630	splice_region_variant	57187			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.3186+1T>C	X.37:g.122758390A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Splice_Site	SNP	ENST00000245838.8	37	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	A	8.590	0.884327	0.17467	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000438358	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4951	0.67680	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	THOC2	122586071	1.000000	0.71417	0.996000	0.52242	0.246000	0.25737	9.339000	0.96797	1.802000	0.52723	0.486000	0.48141	.		0.358	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			Intron
TLN2	83660	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	63000819	63000819	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr15:63000819G>C	ENST00000561311.1	+	20	2521	c.2291G>C	c.(2290-2292)aGt>aCt	p.S764T	TLN2_ENST00000306829.6_Missense_Mutation_p.S764T			Q9Y4G6	TLN2_HUMAN	talin 2	764					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.S764T(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACTACCGATAGTGAGCTCCTG	0.652																																																	1	Substitution - Missense(1)	kidney(1)											56.0	49.0	52.0					15																	63000819		2203	4300	6503	SO:0001583	missense	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.2291G>C	15.37:g.63000819G>C	ENSP00000453508:p.Ser764Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	g	0.359	-0.940288	0.02322	.	.	ENSG00000171914	ENST00000306829	T	0.67865	-0.29	4.96	0.297	0.15762	.	0.577627	0.20403	N	0.093006	T	0.44138	0.1279	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21484	-1.0244	10	0.15952	T	0.53	0.1218	12.1616	0.54107	0.0:0.5016:0.3107:0.1877	.	764	Q9Y4G6	TLN2_HUMAN	T	764	ENSP00000303476:S764T	ENSP00000303476:S764T	S	+	2	0	TLN2	60788111	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-0.031000	0.12287	0.169000	0.19679	0.655000	0.94253	AGT		0.652	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			
TMEM131	23505	broad.mit.edu;hgsc.bcm.edu	37	2	98418894	98418894	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:98418894G>A	ENST00000186436.5	-	24	2876	c.2648C>T	c.(2647-2649)tCa>tTa	p.S883L		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	883						integral component of membrane (GO:0016021)		p.S770L(1)|p.S883L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TACTTACCTTGATACTAACTT	0.328																																																	2	Substitution - Missense(2)	kidney(2)											95.0	90.0	91.0					2																	98418894		1837	4089	5926	SO:0001583	missense	23505			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.2648C>T	2.37:g.98418894G>A	ENSP00000186436:p.Ser883Leu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000186436.5	37	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213766	0.39102	.	.	ENSG00000075568	ENST00000186436	T	0.32515	1.45	5.97	5.02	0.67125	.	0.292243	0.36932	N	0.002325	T	0.15869	0.0382	N	0.08118	0	0.80722	D	1	B	0.31125	0.309	B	0.29785	0.107	T	0.09335	-1.0679	10	0.29301	T	0.29	.	11.7237	0.51698	0.0:0.0:0.6236:0.3764	.	883	Q92545	TM131_HUMAN	L	883	ENSP00000186436:S883L	ENSP00000186436:S883L	S	-	2	0	TMEM131	97785326	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	5.420000	0.66441	2.835000	0.97688	0.591000	0.81541	TCA		0.328	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2		XM_371542	
TMEM68	137695	hgsc.bcm.edu;ucsc.edu	37	8	56675226	56675227	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:56675226_56675227insT	ENST00000434581.2	-	3	491_492	c.292_293insA	c.(292-294)actfs	p.T98fs	TMEM68_ENST00000522576.1_Frame_Shift_Ins_p.T98fs|TMEM68_ENST00000523073.1_Intron|TMEM68_ENST00000519784.1_Intron|TMEM68_ENST00000334667.2_Frame_Shift_Ins_p.T98fs|TMEM68_ENST00000521229.1_Frame_Shift_Ins_p.T98fs			Q96MH6	TMM68_HUMAN	transmembrane protein 68	98						integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			ATCCCACAGAGTTGCCACTGTT	0.401																																																	0																																										SO:0001589	frameshift_variant	137695			AK056932	CCDS6161.1, CCDS75740.1, CCDS75741.1, CCDS75742.1	8q12.1	2011-12-12			ENSG00000167904	ENSG00000167904			26510	protein-coding gene	gene with protein product						12477932	Standard	XM_005251150		Approved	FLJ32370	uc003xsh.1	Q96MH6	OTTHUMG00000164293	ENST00000434581.2:c.293dupA	8.37:g.56675228_56675228dupT	ENSP00000395204:p.Thr98fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q658X6|Q8WUD2	Frame_Shift_Ins	INS	ENST00000434581.2	37																																																																																					0.401	TMEM68-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000378137.1		NM_152417	
TMPRSS15	5651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	19666661	19666661	+	Silent	SNP	A	A	G			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:19666661A>G	ENST00000284885.3	-	21	2445	c.2412T>C	c.(2410-2412)taT>taC	p.Y804Y		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	804	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.Y804Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GTCGGCCGCCATAATACAGAC	0.557																																																	1	Substitution - coding silent(1)	kidney(1)											94.0	101.0	98.0					21																	19666661		2203	4300	6503	SO:0001819	synonymous_variant	5651				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2412T>C	21.37:g.19666661A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q2NKL7	Silent	SNP	ENST00000284885.3	37	CCDS13571.1																																																																																				0.557	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2		NM_002772	
TONSL	4796	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	145666428	145666428	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr8:145666428A>T	ENST00000409379.3	-	8	961	c.932T>A	c.(931-933)aTg>aAg	p.M311K	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	311					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)	p.M311K(1)|p.M152K(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						ACAGATGACCATGGCACCCTG	0.637																																																	2	Substitution - Missense(2)	kidney(2)											92.0	87.0	89.0					8																	145666428		2203	4300	6503	SO:0001583	missense	4796				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.932T>A	8.37:g.145666428A>T	ENSP00000386239:p.Met311Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	A	6.912	0.537951	0.13188	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.75589	-0.95	5.45	5.45	0.79879	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.293777	0.38720	N	0.001594	T	0.69878	0.3160	L	0.56769	1.78	0.43953	D	0.996627	P	0.38335	0.627	B	0.35114	0.196	T	0.72757	-0.4197	10	0.51188	T	0.08	-17.2256	13.4696	0.61276	1.0:0.0:0.0:0.0	.	311	Q96HA7	TONSL_HUMAN	K	311	ENSP00000386239:M311K	ENSP00000386239:M311K	M	-	2	0	TONSL	145637236	1.000000	0.71417	0.998000	0.56505	0.020000	0.10135	8.316000	0.89985	2.077000	0.62373	0.459000	0.35465	ATG		0.637	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2		NM_013432	
PHLDB1	23187	hgsc.bcm.edu	37	11	118529044	118529045	+	IGR	INS	-	-	G	rs11448549|rs35912300|rs72525549|rs72488014		TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr11:118529044_118529045insG	ENST00000361417.2	+	0	5753				TREH_ENST00000397925.1_Splice_Site|TREH_ENST00000525958.1_Frame_Shift_Ins_p.G538fs|TREH_ENST00000264029.4_Splice_Site|TREH_ENST00000530256.1_Frame_Shift_Ins_p.G446fs|TREH_ENST00000529101.1_Frame_Shift_Ins_p.G569fs	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1											breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GAAGGGTGGCCCCAGGCAGTGG	0.639													G|-|G|deletion	5007	0.9998	0.9992	1.0	5008	,	,		17558	1.0		1.0	False		,,,				2504	1.0																0																																										SO:0001628	intergenic_variant	11181				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341		11.37:g.118529044_118529045insG		Somatic		WXS	Illumina HiSeq	Phase_I	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Frame_Shift_Ins	INS	ENST00000361417.2	37	CCDS8401.1																																																																																				0.639	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1		NM_015157	
TUBA4A	7277	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	220116808	220116808	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:220116808T>G	ENST00000248437.4	-	2	321	c.148A>C	c.(148-150)Acc>Ccc	p.T50P	TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000392088.2_Missense_Mutation_p.T35P|TUBA4A_ENST00000498660.1_Intron	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	50					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.T50P(1)|p.T35P(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	AAGAAGGTGGTGAAGGAGTCG	0.542																																																	2	Substitution - Missense(2)	kidney(2)											96.0	81.0	86.0					2																	220116808		2203	4300	6503	SO:0001583	missense	7277			AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.148A>C	2.37:g.220116808T>G	ENSP00000248437:p.Thr50Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A8MUB1|B3KNQ6|P05215	Missense_Mutation	SNP	ENST00000248437.4	37	CCDS2438.1	.	.	.	.	.	.	.	.	.	.	T	13.34	2.207333	0.39003	.	.	ENSG00000127824	ENST00000248437;ENST00000392088;ENST00000427737;ENST00000456818;ENST00000447205;ENST00000425551	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	4.31	4.31	0.51392	Tubulin/FtsZ, GTPase domain (4);	0.065363	0.64402	D	0.000016	T	0.65207	0.2669	L	0.58583	1.82	0.58432	D	0.999999	B	0.21071	0.051	B	0.28784	0.094	T	0.67734	-0.5594	10	0.87932	D	0	.	13.9316	0.63998	0.0:0.0:0.0:1.0	.	50	P68366	TBA4A_HUMAN	P	50;35;35;73;35;52	ENSP00000248437:T50P;ENSP00000375938:T35P;ENSP00000408194:T35P;ENSP00000416992:T73P;ENSP00000396061:T35P;ENSP00000404740:T52P	ENSP00000248437:T50P	T	-	1	0	TUBA4A	219825052	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.131000	0.71670	1.942000	0.56320	0.459000	0.35465	ACC		0.542	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3		NM_006000	
TXNDC15	79770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	134232036	134232037	+	Missense_Mutation	DNP	GG	GG	CA			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:134232036_134232037GG>CA	ENST00000358387.4	+	4	1433_1434	c.808_809GG>CA	c.(808-810)GGa>CAa	p.G270Q	TXNDC15_ENST00000546290.1_Missense_Mutation_p.G247Q	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	270	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)		p.G270E(1)|p.G270R(1)|p.G270>?(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATTATTTCAAGGAGCTAAACCA	0.356																																																	3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	79770			AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 14"""	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	Exception_encountered	5.37:g.134232036_134232037delinsCA	ENSP00000351157:p.Gly270Gln	Somatic		WXS	Illumina HiSeq	Phase_I	D3DQA9|Q96MT2|Q9H639	Missense_Mutation	SNP	ENST00000358387.4	37	CCDS4180.1																																																																																				0.356	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251160.1		NM_024715	
UBE2N	7334	hgsc.bcm.edu	37	12	93804524	93804532	+	In_Frame_Del	DEL	TGGGCTTCG	TGGGCTTCG	-			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	TGGGCTTCG	TGGGCTTCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr12:93804524_93804532delTGGGCTTCG	ENST00000318066.2	-	3	773_781	c.396_404delCGAAGCCCA	c.(394-405)aacgaagcccaa>aaa	p.132_135NEAQ>K	UBE2N_ENST00000552442.1_Intron|UBE2N_ENST00000550657.1_3'UTR|UBE2N_ENST00000549833.1_In_Frame_Del_p.69_72NEAQ>K	NM_003348.3	NP_003339.1	P61088	UBE2N_HUMAN	ubiquitin-conjugating enzyme E2N	132					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|DNA double-strand break processing (GO:0000729)|double-strand break repair via homologous recombination (GO:0000724)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone ubiquitination (GO:0016574)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone modification (GO:0031058)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|postreplication repair (GO:0006301)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of DNA repair (GO:0006282)|regulation of histone ubiquitination (GO:0033182)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-MMS2 complex (GO:0031372)|UBC13-UEV1A complex (GO:0035370)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|liver(2)|lung(5)	10						TTCTATGGCTTGGGCTTCGTTGGTCTTCC	0.431								Direct reversal of damage;Rad6 pathway																													Pancreas(197;738 2228 30225 32034 33454)												0																																										SO:0001651	inframe_deletion	7334			D83004	CCDS31875.1	12q22	2011-05-19	2011-05-19			ENSG00000177889		"""Ubiquitin-conjugating enzymes E2"""	12492	protein-coding gene	gene with protein product		603679	"""ubiquitin-conjugating enzyme E2N (homologous to yeast UBC13)"", ""ubiquitin-conjugating enzyme E2N (UBC13 homolog, yeast)"""			8902611	Standard	NM_003348		Approved	UbcH-ben, UBC13, MGC8489	uc001tcp.3	P61088	OTTHUMG00000170156	ENST00000318066.2:c.396_404delCGAAGCCCA	12.37:g.93804524_93804532delTGGGCTTCG	ENSP00000316176:p.Asn132_Gln135delinsLys	Somatic		WXS	Illumina HiSeq	Phase_I	Q16781|Q53Y81	In_Frame_Del	DEL	ENST00000318066.2	37	CCDS31875.1																																																																																				0.431	UBE2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407710.1		NM_003348	
USP26	83844	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	132161721	132161721	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chrX:132161721C>A	ENST00000511190.1	-	6	997	c.528G>T	c.(526-528)caG>caT	p.Q176H	USP26_ENST00000406273.1_Missense_Mutation_p.Q176H|USP26_ENST00000370832.1_Missense_Mutation_p.Q176H	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	176					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.Q176H(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCTTCTTGTGCTGATTTTCTG	0.383																																					NSCLC(104;342 1621 36940 47097 52632)												1	Substitution - Missense(1)	kidney(1)											102.0	85.0	91.0					X																	132161721		2203	4299	6502	SO:0001583	missense	83844			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.528G>T	X.37:g.132161721C>A	ENSP00000423390:p.Gln176His	Somatic		WXS	Illumina HiSeq	Phase_I	B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.611224	0.28712	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.55930	0.49;0.49;0.49	3.79	-5.31	0.02730	.	1.944920	0.03599	N	0.233167	T	0.57755	0.2075	L	0.34521	1.04	0.09310	N	1	D	0.61697	0.99	P	0.61800	0.894	T	0.62248	-0.6894	10	0.72032	D	0.01	4.371	11.7888	0.52057	0.0:0.6662:0.0:0.3338	.	176	Q9BXU7	UBP26_HUMAN	H	176	ENSP00000359869:Q176H;ENSP00000423390:Q176H;ENSP00000384360:Q176H	ENSP00000359869:Q176H	Q	-	3	2	USP26	131989387	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.650000	0.00858	-1.340000	0.02227	-0.505000	0.04504	CAG		0.383	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1		NM_031907	
YIPF3	25844	hgsc.bcm.edu	37	6	43483424	43483425	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:43483424_43483425insC	ENST00000372422.2	-	3	485_486	c.303_304insG	c.(301-306)gggaaafs	p.K102fs	POLR1C_ENST00000372344.2_5'Flank|POLR1C_ENST00000372389.3_5'Flank|YIPF3_ENST00000506469.1_Frame_Shift_Ins_p.K108fs|POLR1C_ENST00000304004.3_5'Flank	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	102					cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GCTTGTCTTTTCCCAGCCTGCC	0.5																																																	0																																										SO:0001589	frameshift_variant	25844			AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"""Yip1 domain family"""	21023	protein-coding gene	gene with protein product		609775	"""chromosome 6 open reading frame 109"""	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.304dupG	6.37:g.43483427_43483427dupC	ENSP00000361499:p.Lys102fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Frame_Shift_Ins	INS	ENST00000372422.2	37	CCDS4899.1																																																																																				0.500	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040639.2		NM_015388	
ZMYM6	9204	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	35480663	35480663	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:35480663T>C	ENST00000357182.4	-	5	756	c.529A>G	c.(529-531)Aag>Gag	p.K177E	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Missense_Mutation_p.K177E|ZMYM6_ENST00000373340.2_Missense_Mutation_p.K177E	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	177					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K177E(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GGTTTTTTCTTTAGCTCATAA	0.348																																																	1	Substitution - Missense(1)	kidney(1)											93.0	88.0	90.0					1																	35480663		2203	4300	6503	SO:0001583	missense	9204			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.529A>G	1.37:g.35480663T>C	ENSP00000349708:p.Lys177Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	CCDS387.2	.	.	.	.	.	.	.	.	.	.	T	20.4	3.978637	0.74360	.	.	ENSG00000163867	ENST00000373340;ENST00000357182;ENST00000415531	T;T;T	0.36878	1.78;2.9;1.23	4.51	3.36	0.38483	TRASH (1);	0.112824	0.56097	D	0.000021	T	0.51787	0.1695	L	0.55990	1.75	0.36623	D	0.875888	D;D	0.65815	0.995;0.995	D;D	0.70227	0.952;0.968	T	0.60944	-0.7162	10	0.87932	D	0	-7.2588	11.5467	0.50698	0.0:0.0:0.15:0.85	.	177;177	O95789;O95789-1	ZMYM6_HUMAN;.	E	177	ENSP00000362437:K177E;ENSP00000349708:K177E;ENSP00000391337:K177E	ENSP00000349708:K177E	K	-	1	0	ZMYM6	35253250	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	4.398000	0.59697	0.844000	0.35094	0.460000	0.39030	AAG		0.348	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1		NM_007167	
ZBTB21	49854	hgsc.bcm.edu;ucsc.edu	37	21	43411090	43411098	+	In_Frame_Del	DEL	ATGTGATTG	ATGTGATTG	-			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	ATGTGATTG	ATGTGATTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:43411090_43411098delATGTGATTG	ENST00000310826.5	-	3	3290_3298	c.3107_3115delCAATCACAT	c.(3106-3117)gcaatcacattt>gtt	p.1036_1039AITF>V	ZBTB21_ENST00000398499.1_In_Frame_Del_p.1036_1039AITF>V|ZBTB21_ENST00000465968.1_5'Flank|ZBTB21_ENST00000398511.3_In_Frame_Del_p.1036_1039AITF>V|ZBTB21_ENST00000398505.3_In_Frame_Del_p.835_838AITF>V	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	1036					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										TGTCTTTTAAATGTGATTGCTGAAAGGGG	0.44																																																	0																																										SO:0001651	inframe_deletion	0			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.3107_3115delCAATCACAT	21.37:g.43411090_43411098delATGTGATTG	ENSP00000308759:p.Ala1036_Phe1039delinsVal	Somatic		WXS	Illumina HiSeq	Phase_I	Q5R2W1|Q5R2W2|Q6P4R0	In_Frame_Del	DEL	ENST00000310826.5	37	CCDS13678.1																																																																																				0.440	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1		NM_020727	
ZNF512B	57473	broad.mit.edu;ucsc.edu	37	20	62599261	62599261	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr20:62599261A>T	ENST00000450537.1	-	2	103	c.43T>A	c.(43-45)Tcc>Acc	p.S15T	ZNF512B_ENST00000217130.3_Missense_Mutation_p.S15T|ZNF512B_ENST00000369888.1_Missense_Mutation_p.S15T			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	15					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S15T(1)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CTCTTGCTGGACCCCGGGAGC	0.602																																																	1	Substitution - Missense(1)	kidney(1)											88.0	81.0	83.0					20																	62599261		2203	4300	6503	SO:0001583	missense	57473			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.43T>A	20.37:g.62599261A>T	ENSP00000393795:p.Ser15Thr	Somatic		WXS	Illumina GAIIx	Phase_I	Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.175249	0.57692	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.26373	1.74;1.74;1.74	4.36	0.825	0.18824	.	0.339325	0.25487	N	0.030336	T	0.12987	0.0315	L	0.27053	0.805	0.18873	N	0.999989	P	0.37781	0.608	B	0.29176	0.099	T	0.14615	-1.0466	10	0.59425	D	0.04	-26.8405	7.2365	0.26072	0.7056:0.0:0.2944:0.0	.	15	Q96KM6	Z512B_HUMAN	T	15	ENSP00000358904:S15T;ENSP00000393795:S15T;ENSP00000217130:S15T	ENSP00000217130:S15T	S	-	1	0	ZNF512B	62069705	0.625000	0.27111	0.439000	0.26833	0.804000	0.45430	0.966000	0.29331	0.299000	0.22661	0.254000	0.18369	TCC		0.602	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1		NM_020713	
ZNF846	162993	hgsc.bcm.edu;ucsc.edu	37	19	9869150	9869150	+	Frame_Shift_Del	DEL	T	T	-	rs118035535	byFrequency	TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:9869150delT	ENST00000397902.2	-	6	1016	c.603delA	c.(601-603)aaafs	p.K201fs	ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Frame_Shift_Del_p.K72fs|ZNF846_ENST00000588267.1_Frame_Shift_Del_p.K72fs	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TCCAACAGTCTTTGCATTCAC	0.358																																																	0													122.0	126.0	125.0					19																	9869150		1968	4170	6138	SO:0001589	frameshift_variant	162993			AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.603delA	19.37:g.9869150delT	ENSP00000380999:p.Lys201fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K0H1|B3KUP1	Frame_Shift_Del	DEL	ENST00000397902.2	37	CCDS42496.1																																																																																				0.358	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1		NM_001077624	
ZYG11B	79699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	53245634	53245634	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:53245634T>A	ENST00000294353.6	+	4	1206	c.1061T>A	c.(1060-1062)gTg>gAg	p.V354E	ZYG11B_ENST00000443756.2_Missense_Mutation_p.V354E|ZYG11B_ENST00000545132.1_Missense_Mutation_p.V354E	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	354								p.V354E(1)		breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						CTGACTCATGTGATGGAAAAA	0.363																																																	1	Substitution - Missense(1)	kidney(1)											136.0	132.0	134.0					1																	53245634		2203	4300	6503	SO:0001583	missense	79699			AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.1061T>A	1.37:g.53245634T>A	ENSP00000294353:p.Val354Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N2X3|Q9H8L8	Missense_Mutation	SNP	ENST00000294353.6	37	CCDS30717.1	.	.	.	.	.	.	.	.	.	.	T	6.345	0.431839	0.12045	.	.	ENSG00000162378	ENST00000443756;ENST00000545132;ENST00000294353	T;T;T	0.07021	3.23;3.23;3.23	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.054749	0.64402	D	0.000001	T	0.06280	0.0162	L	0.31294	0.92	0.49483	D	0.999799	B;B	0.32467	0.372;0.006	B;B	0.29077	0.098;0.006	T	0.07809	-1.0753	10	0.02654	T	1	.	15.6846	0.77400	0.0:0.0:0.0:1.0	.	354;354	B4DK95;Q9C0D3	.;ZY11B_HUMAN	E	354	ENSP00000400522:V354E;ENSP00000441315:V354E;ENSP00000294353:V354E	ENSP00000294353:V354E	V	+	2	0	ZYG11B	53018222	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.008000	0.57103	2.098000	0.63641	0.528000	0.53228	GTG		0.363	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1		NM_024646	
ASAP2	8853	broad.mit.edu	37	2	9533614	9533614	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr2:9533614C>A	ENST00000281419.3	+	24	2862	c.2522C>A	c.(2521-2523)cCc>cAc	p.P841H	ASAP2_ENST00000315273.4_Missense_Mutation_p.P796H|ASAP2_ENST00000491413.1_3'UTR	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	841	Pro-rich.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)	p.P841H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TCCGCAGATCCCCTGACCCCC	0.637																																																	1	Substitution - Missense(1)	kidney(1)											11.0	13.0	12.0					2																	9533614		2195	4286	6481	SO:0001583	missense	8853			AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2522C>A	2.37:g.9533614C>A	ENSP00000281419:p.Pro841His	Somatic		WXS	Illumina GAIIx	Phase_I	D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	C	8.589	0.884153	0.17467	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.60171	0.37;0.21	5.36	5.36	0.76844	.	2.943930	0.00812	N	0.001516	T	0.53029	0.1771	N	0.19112	0.55	0.37596	D	0.920376	P;P	0.42620	0.785;0.681	B;B	0.43950	0.437;0.315	T	0.45673	-0.9245	10	0.46703	T	0.11	.	10.2708	0.43481	0.0:0.8782:0.0:0.1218	.	796;841	O43150-2;O43150	.;ASAP2_HUMAN	H	841;796	ENSP00000281419:P841H;ENSP00000316404:P796H	ENSP00000281419:P841H	P	+	2	0	ASAP2	9451065	0.979000	0.34478	0.998000	0.56505	0.323000	0.28346	2.857000	0.48349	2.515000	0.84797	0.462000	0.41574	CCC		0.637	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1		NM_003887	
ZGRF1	55345	broad.mit.edu	37	4	113539199	113539199	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr4:113539199G>T	ENST00000505019.1	-	6	2124	c.1999C>A	c.(1999-2001)Caa>Aaa	p.Q667K	C4orf21_ENST00000445203.2_Missense_Mutation_p.Q636K|C4orf21_ENST00000309071.5_Missense_Mutation_p.Q667K	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		667						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.Q667K(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTGACTTCTTGAATAGGTTTA	0.313																																																	2	Substitution - Missense(2)	kidney(2)											89.0	93.0	91.0					4																	113539199		2202	4300	6502	SO:0001583	missense	55345																														ENST00000505019.1:c.1999C>A	4.37:g.113539199G>T	ENSP00000424737:p.Gln667Lys	Somatic		WXS	Illumina GAIIx	Phase_I	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37		.	.	.	.	.	.	.	.	.	.	G	10.22	1.291374	0.23564	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.83075	-1.68;1.83;1.4	5.14	3.33	0.38152	.	2.305190	0.01565	N	0.020300	T	0.81034	0.4739	L	0.56769	1.78	0.09310	N	1	B;B	0.17465	0.022;0.007	B;B	0.14023	0.01;0.005	T	0.57106	-0.7868	10	0.11794	T	0.64	8.4652	10.3546	0.43956	0.0:0.1307:0.5991:0.2702	.	667;667	Q86YA3;G5EA02	CD021_HUMAN;.	K	667;667;636	ENSP00000424737:Q667K;ENSP00000309095:Q667K;ENSP00000390505:Q636K	ENSP00000309095:Q667K	Q	-	1	0	C4orf21	113758648	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.143000	0.16115	0.609000	0.30018	0.557000	0.71058	CAA		0.313	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			
ESPNP	284729	broad.mit.edu	37	1	17023110	17023110	+	RNA	SNP	G	G	A	rs11260887|rs201639447	byFrequency	TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr1:17023110G>A	ENST00000492551.1	-	0	1753					NR_026567.1				espin pseudogene																		GTTGAGCAGCGGCTGAAACCC	0.687													g|||	1622	0.323882	0.1233	0.3703	5008	,	,		35506	0.4792		0.3429	False		,,,				2504	0.3824																0																																												284729			AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17023110G>A		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000492551.1	37																																																																																					0.687	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			
FAM124A	220108	broad.mit.edu	37	13	51825776	51825776	+	Silent	SNP	G	G	T			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr13:51825776G>T	ENST00000322475.8	+	3	408	c.273G>T	c.(271-273)cgG>cgT	p.R91R	FAM124A_ENST00000280057.6_Silent_p.R127R	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	91								p.R127R(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		GGCGGCGGCGGAAGCCCCCCA	0.706																																																	1	Substitution - coding silent(1)	kidney(1)											7.0	9.0	8.0					13																	51825776		2141	4187	6328	SO:0001819	synonymous_variant	220108			AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.273G>T	13.37:g.51825776G>T		Somatic		WXS	Illumina GAIIx	Phase_I	A2A324|Q8N8P9|Q8NE66|Q96NJ9	Silent	SNP	ENST00000322475.8	37	CCDS55900.1																																																																																				0.706	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3		NM_145019	
PAXBP1	94104	broad.mit.edu	37	21	34143766	34143767	+	Missense_Mutation	DNP	CG	CG	TA			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	C|G	C|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr21:34143766_34143767CG>TA	ENST00000331923.4	-	1	402_403	c.213_214CG>TA	c.(211-216)ctCGgg>ctTAgg	p.G72R	C21orf49_ENST00000453404.1_5'Flank|C21orf49_ENST00000477513.1_5'Flank|C21orf49_ENST00000382375.4_5'Flank|C21orf49_ENST00000382378.1_5'Flank|PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.G72R	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	72					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G72R(2)|p.L71L(1)									GCCTCAGCCCCGAGGCCCGGGG	0.802																																																	3	Substitution - Missense(2)|Substitution - coding silent(1)	kidney(3)																																								SO:0001583	missense	0			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.213_214delinsTA	21.37:g.34143766_34143767delinsTA	ENSP00000328992:p.Gly72Arg	Somatic		WXS	Illumina GAIIx	Phase_I	D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation|Silent	SNP	ENST00000331923.4	37	CCDS13619.1																																																																																				0.802	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1		NM_013329	
HIST1H2AK	8330	broad.mit.edu	37	6	27805883	27805883	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr6:27805883T>G	ENST00000330180.2	-	1	234	c.235A>C	c.(235-237)Atc>Ctc	p.I79L	HIST1H2BN_ENST00000606613.1_5'Flank|HIST1H2BN_ENST00000396980.3_5'Flank	NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	79						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.I79L(1)		breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						CGCGGGATGATGCGGGTCTTC	0.627																																																	1	Substitution - Missense(1)	kidney(1)											108.0	110.0	109.0					6																	27805883		2203	4300	6503	SO:0001583	missense	8330			Z83739	CCDS4632.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000184348	ENSG00000275221		"""Histones / Replication-dependent"""	4726	protein-coding gene	gene with protein product		602788	"""H2A histone family, member D"", ""histone 1, H2ak"""	H2AFD		9439656, 12408966	Standard	NM_003510		Approved	H2A/d	uc003njs.3	P0C0S8	OTTHUMG00000016382	ENST00000330180.2:c.235A>C	6.37:g.27805883T>G	ENSP00000330307:p.Ile79Leu	Somatic		WXS	Illumina GAIIx	Phase_I	P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000330180.2	37	CCDS4632.1	.	.	.	.	.	.	.	.	.	.	.	22.2	4.257302	0.80246	.	.	ENSG00000184348	ENST00000330180	T	0.69685	-0.42	4.28	4.28	0.50868	.	0.000000	0.31507	U	0.007535	T	0.67468	0.2896	.	.	.	0.34434	D	0.69886	.	.	.	.	.	.	T	0.74222	-0.3735	7	0.87932	D	0	.	13.277	0.60191	0.0:0.0:0.0:1.0	.	.	.	.	L	79	ENSP00000330307:I79L	ENSP00000330307:I79L	I	-	1	0	HIST1H2AK	27913862	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.949000	0.70257	1.860000	0.53959	0.454000	0.30748	ATC		0.627	HIST1H2AK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043814.1		NM_003510	
KGFLP2	654466	broad.mit.edu	37	9	41962424	41962424	+	lincRNA	SNP	T	T	A			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr9:41962424T>A	ENST00000454645.1	-	0	1080					NR_003670.1																						GCTTGATCAGTTTTTCAGTAG	0.318																																																	0																																												654466																															9.37:g.41962424T>A		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000454645.1	37																																																																																					0.318	RP11-204M4.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143738.1			
TCF7	6932	broad.mit.edu	37	5	133451702	133451702	+	Missense_Mutation	SNP	A	A	C	rs552034914		TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:133451702A>C	ENST00000321584.4	+	3	615	c.419A>C	c.(418-420)cAc>cCc	p.H140P	TCF7_ENST00000395023.1_Missense_Mutation_p.H25P|TCF7_ENST00000378564.1_Missense_Mutation_p.H140P|TCF7_ENST00000518915.1_Missense_Mutation_p.H25P|TCF7_ENST00000342854.5_Missense_Mutation_p.H140P|TCF7_ENST00000432532.2_Missense_Mutation_p.H25P|TCF7_ENST00000520958.1_Missense_Mutation_p.H25P|TCF7_ENST00000395029.1_Missense_Mutation_p.H140P|TCF7_ENST00000378560.4_Missense_Mutation_p.H25P|TCF7_ENST00000321603.6_Missense_Mutation_p.H140P			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	140					alpha-beta T cell differentiation (GO:0046632)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cellular response to interleukin-4 (GO:0071353)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|generation of neurons (GO:0048699)|immune response (GO:0006955)|neural tube development (GO:0021915)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor V(D)J recombination (GO:0033153)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.H140P(4)|p.H25P(2)		kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCAGGGCAGCACCCCCAGCCG	0.652																																																	6	Substitution - Missense(6)	kidney(6)											34.0	34.0	34.0					5																	133451702		2202	4300	6502	SO:0001583	missense	6932			Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059			11639	protein-coding gene	gene with protein product		189908					Standard	NM_003202		Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000321584.4:c.419A>C	5.37:g.133451702A>C	ENSP00000326540:p.His140Pro	Somatic		WXS	Illumina GAIIx	Phase_I	B3KSH3|Q86WR9|Q9UKI4	Missense_Mutation	SNP	ENST00000321584.4	37		.	.	.	.	.	.	.	.	.	.	A	16.20	3.055423	0.55325	.	.	ENSG00000081059	ENST00000342854;ENST00000361590;ENST00000321603;ENST00000321584;ENST00000378564;ENST00000395029;ENST00000518887;ENST00000517851;ENST00000521639;ENST00000522375;ENST00000378560;ENST00000432532;ENST00000520958;ENST00000518915;ENST00000395023	D;D;D;D;D;D;D;D;D;D	0.99121	-5.38;-5.39;-5.39;-5.41;-5.4;-5.45;-5.44;-5.42;-5.39;-5.42	5.2	1.09	0.20402	CTNNB1 binding, N-teminal (1);	0.548777	0.18063	N	0.152870	D	0.91646	0.7360	N	0.00771	-1.2	0.25619	N	0.986426	B;B;B;B	0.23442	0.085;0.0;0.0;0.0	B;B;B;B	0.25759	0.063;0.0;0.0;0.0	D	0.89337	0.3651	10	0.23302	T	0.38	.	5.3059	0.15803	0.5584:0.3475:0.0941:0.0	.	140;140;140;140	P36402-9;B7WNT5;P36402;P36402-5	.;.;TCF7_HUMAN;.	P	140;140;140;140;140;140;25;25;25;25;25;25;25;25;25	ENSP00000340347:H140P;ENSP00000326654:H140P;ENSP00000326540:H140P;ENSP00000367827:H140P;ENSP00000378472:H140P;ENSP00000367822:H25P;ENSP00000397946:H25P;ENSP00000429547:H25P;ENSP00000430179:H25P;ENSP00000378469:H25P	ENSP00000326540:H140P	H	+	2	0	TCF7	133479601	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.767000	0.38501	0.791000	0.33826	0.456000	0.33151	CAC		0.652	TCF7-201	KNOWN	basic	protein_coding	protein_coding			NM_201634	
PCDHGB3	56102	broad.mit.edu	37	5	140751901	140751901	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr5:140751901G>A	ENST00000576222.1	+	1	2071	c.1940G>A	c.(1939-1941)cGt>cAt	p.R647H	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	647	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCACTGTGCGTGATGGAGGA	0.647																																																	0													46.0	52.0	50.0					5																	140751901		2115	4243	6358	SO:0001583	missense	56102			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1940G>A	5.37:g.140751901G>A	ENSP00000461862:p.Arg647His	Somatic		WXS	Illumina GAIIx	Phase_I	A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.647	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1		NM_018924	
ZNF737	100129842	broad.mit.edu	37	19	20727828	20727828	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3346-01A-01D-0966-08	TCGA-A3-3346-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8a52c11-2278-4f15-80bb-c7115c2cd737	4a91a470-3bee-458d-bc64-6d4d99f34620	g.chr19:20727828T>C	ENST00000427401.4	-	4	1275	c.1181A>G	c.(1180-1182)gAg>gGg	p.E394G		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	394					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E393G(1)		breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GTAGGGTTTCTCTCCAGTATG	0.408																																																	1	Substitution - Missense(1)	kidney(1)											76.0	76.0	76.0					19																	20727828		692	1591	2283	SO:0001583	missense	100129842			BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.1181A>G	19.37:g.20727828T>C	ENSP00000395733:p.Glu394Gly	Somatic		WXS	Illumina GAIIx	Phase_I	C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	N	11.22	1.575053	0.28092	.	.	ENSG00000237440	ENST00000427401	T	0.27557	1.66	0.801	0.801	0.18679	.	.	.	.	.	T	0.31009	0.0783	M	0.67625	2.065	0.27757	N	0.943952	P	0.37141	0.584	B	0.39339	0.297	T	0.27191	-1.0081	9	0.72032	D	0.01	.	5.4149	0.16368	0.0:0.0:0.0:1.0	.	394	C9JHM3	.	G	394	ENSP00000395733:E394G	ENSP00000395733:E394G	E	-	2	0	ZNF737	20519668	0.965000	0.33210	0.578000	0.28575	0.580000	0.36256	2.046000	0.41260	0.147000	0.19030	0.145000	0.16022	GAG		0.408	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2		NM_145289	
