#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ABCC1	4363	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	16149977	16149977	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr16:16149977G>A	ENST00000399410.3	+	12	1677	c.1502G>A	c.(1501-1503)cGg>cAg	p.R501Q	ABCC1_ENST00000349029.5_Missense_Mutation_p.R501Q|ABCC1_ENST00000351154.5_Missense_Mutation_p.R501Q|ABCC1_ENST00000345148.5_Missense_Mutation_p.R501Q|ABCC1_ENST00000399408.2_Missense_Mutation_p.R501Q|ABCC1_ENST00000346370.5_Missense_Mutation_p.R501Q	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	501	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.R501Q(2)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	AAAGACAATCGGATCAAGCTG	0.522																																																	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											105.0	104.0	104.0					16																	16149977		2007	4182	6189	SO:0001583	missense	4363			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1502G>A	16.37:g.16149977G>A	ENSP00000382342:p.Arg501Gln		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	G	35	5.424589	0.96111	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	5.32	5.32	0.75619	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96803	0.8956	H	0.94582	3.555	0.54753	D	0.999981	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.997;0.996;1.0;0.999;0.996;0.999;0.999	D	0.97842	1.0269	10	0.87932	D	0	-30.289	18.0003	0.89196	0.0:0.0:1.0:0.0	.	501;501;501;501;501;501;501	P33527-6;P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;.;MRP1_HUMAN;.	Q	501;501;501;501;501;501;175	ENSP00000382342:R501Q;ENSP00000382340:R501Q;ENSP00000263019:R501Q;ENSP00000263017:R501Q;ENSP00000263014:R501Q;ENSP00000263016:R501Q	ENSP00000263014:R501Q	R	+	2	0	ABCC1	16057478	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	9.426000	0.97469	2.479000	0.83701	0.561000	0.74099	CGG		0.522	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1		NM_004996	
ABCG5	64240	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	44065039	44065039	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr2:44065039G>C	ENST00000260645.1	-	2	338	c.199C>G	c.(199-201)Cag>Gag	p.Q67E	ABCG8_ENST00000272286.2_5'Flank|ABCG5_ENST00000405322.1_5'UTR|ABCG5_ENST00000543989.1_5'UTR	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	67	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)	p.Q67E(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TTGAGGATCTGCCTGGTCCAC	0.552																																																	1	Substitution - Missense(1)	kidney(1)											112.0	100.0	104.0					2																	44065039		2203	4300	6503	SO:0001583	missense	64240			T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.199C>G	2.37:g.44065039G>C	ENSP00000260645:p.Gln67Glu		Q2T9G2|Q96QZ2|Q96QZ3	Missense_Mutation	SNP	ENST00000260645.1	37	CCDS1814.1	.	.	.	.	.	.	.	.	.	.	G	8.494	0.862616	0.17178	.	.	ENSG00000138075	ENST00000260645	T	0.38722	1.12	4.63	2.71	0.32032	ABC transporter-like (1);	0.094343	0.43260	D	0.000588	T	0.17492	0.0420	N	0.13235	0.315	0.80722	D	1	P	0.48294	0.908	B	0.35607	0.206	T	0.21518	-1.0243	10	0.02654	T	1	.	11.1958	0.48711	0.0:0.1371:0.7207:0.1422	.	67	Q9H222	ABCG5_HUMAN	E	67	ENSP00000260645:Q67E	ENSP00000260645:Q67E	Q	-	1	0	ABCG5	43918543	1.000000	0.71417	1.000000	0.80357	0.496000	0.33645	5.605000	0.67634	1.143000	0.42306	0.650000	0.86243	CAG		0.552	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1		NM_022436	
ACAD10	80724	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	112167663	112167663	+	Nonsense_Mutation	SNP	G	G	T	rs200769692	byFrequency	TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr12:112167663G>T	ENST00000313698.4	+	10	1452	c.1297G>T	c.(1297-1299)Gaa>Taa	p.E433*	ACAD10_ENST00000455480.2_Nonsense_Mutation_p.E464*|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Nonsense_Mutation_p.E433*|ACAD10_ENST00000392636.2_Nonsense_Mutation_p.E35*	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	433						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.E433*(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TCGAGCTTCCGAAACTAGCAC	0.542																																																	1	Substitution - Nonsense(1)	kidney(1)											85.0	75.0	78.0					12																	112167663		2203	4300	6503	SO:0001587	stop_gained	80724			AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1297G>T	12.37:g.112167663G>T	ENSP00000325137:p.Glu433*		G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Nonsense_Mutation	SNP	ENST00000313698.4	37	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	G	42	9.800932	0.99267	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000313698	.	.	.	5.37	5.37	0.77165	.	0.112601	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	18.6848	0.91559	0.0:0.0:1.0:0.0	.	.	.	.	X	35;433;433;464;433	.	ENSP00000325137:E433X	E	+	1	0	ACAD10	110652046	1.000000	0.71417	0.751000	0.31187	0.067000	0.16453	7.073000	0.76784	2.499000	0.84300	0.655000	0.94253	GAA		0.542	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1		NM_025247	
ACO1	48	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	32425989	32425989	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr9:32425989G>C	ENST00000309951.6	+	11	1480	c.1342G>C	c.(1342-1344)Ggg>Cgg	p.G448R	ACO1_ENST00000379923.1_Missense_Mutation_p.G448R|ACO1_ENST00000541043.1_Missense_Mutation_p.G349R	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	448					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.G448R(2)		breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TGTGATGTTAGGGGCAGGTAA	0.483																																																	2	Substitution - Missense(2)	kidney(2)											155.0	114.0	128.0					9																	32425989		2203	4300	6503	SO:0001583	missense	48			M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.1342G>C	9.37:g.32425989G>C	ENSP00000309477:p.Gly448Arg		D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085792	0.94100	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000541043	T;T;T	0.18016	2.24;2.24;2.24	5.74	5.74	0.90152	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.045466	0.85682	D	0.000000	T	0.34366	0.0895	L	0.35414	1.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.02190	-1.1198	10	0.87932	D	0	-19.3598	19.0685	0.93123	0.0:0.0:1.0:0.0	.	484;448	Q59FI0;P21399	.;ACOC_HUMAN	R	484;448;448;349	ENSP00000309477:G448R;ENSP00000369255:G448R;ENSP00000438733:G349R	ENSP00000309477:G448R	G	+	1	0	ACO1	32415989	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.929000	0.87595	2.873000	0.98535	0.563000	0.77884	GGG		0.483	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3		NM_002197	
ADAMTS13	11093	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	136290722	136290722	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr9:136290722C>T	ENST00000371929.3	+	4	848	c.404C>T	c.(403-405)aCa>aTa	p.T135I	ADAMTS13_ENST00000371916.1_Missense_Mutation_p.T135I|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.T135I|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371911.3_Missense_Mutation_p.T135I|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.T135I	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	135	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T135I(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GTCATTCTGACAGAGCCTGAG	0.572																																																	1	Substitution - Missense(1)	kidney(1)											68.0	50.0	56.0					9																	136290722		2203	4299	6502	SO:0001583	missense	11093			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.404C>T	9.37:g.136290722C>T	ENSP00000360997:p.Thr135Ile		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575687	0.28092	.	.	ENSG00000160323	ENST00000371929;ENST00000371916;ENST00000355699;ENST00000356589;ENST00000371911;ENST00000338351	D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25	4.57	2.69	0.31865	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	D	0.90700	0.7082	M	0.80982	2.52	0.80722	D	1	D;D;P;D	0.67145	0.989;0.987;0.951;0.996	D;P;P;P	0.64687	0.928;0.844;0.675;0.894	D	0.87316	0.2315	9	0.49607	T	0.09	.	4.6847	0.12752	0.1546:0.6082:0.1501:0.0871	.	135;135;135;135	Q76LX8;Q76LX8-3;Q76LX8-2;E7EV88	ATS13_HUMAN;.;.;.	I	135;135;135;135;135;5	ENSP00000360997:T135I;ENSP00000360984:T135I;ENSP00000347927:T135I;ENSP00000348997:T135I;ENSP00000360979:T135I	ENSP00000345120:T5I	T	+	2	0	ADAMTS13	135280543	0.995000	0.38212	0.011000	0.14972	0.047000	0.14425	3.266000	0.51569	0.354000	0.24105	-0.534000	0.04291	ACA		0.572	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1		NM_139025	
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs563415390|rs148509143|rs374281647	byFrequency	TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	ENST00000308860.6	+	12	1301_1311	c.1257_1267delGGGGGTGCAAGGTGA	c.(1255-1269)ctgggggtgcaaggt>ctgt	p.GVQG420del	MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'Flank	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	420						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.73														3140	0.626997	0.8109	0.562	5008	,	,		8769	0.6577		0.4205	False		,,,				2504	0.6053																2	Unknown(2)	prostate(2)								1836,894		805,226,334						4.5	0.7		dbSNP_120	4	2015,4403		639,737,1833	no	coding-near-splice	ADCK5	NM_174922.3		1444,963,2167	A1A1,A1R,RR		31.3961,32.7473,42.0966				3851,5297				SO:0001630	splice_region_variant	203054			BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.1267+1GGGGGTGCAAGGTGA>-	8.37:g.145617535_145617549delGGGGGTGCAAGGTGA			B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Splice_Site	DEL	ENST00000308860.6	37	CCDS34965.1																																																																																				0.730	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382556.2		NM_174922	In_Frame_Del
ARHGAP6	395	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	11204520	11204520	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chrX:11204520A>T	ENST00000337414.4	-	5	1981	c.1109T>A	c.(1108-1110)cTt>cAt	p.L370H	ARHGAP6_ENST00000534860.1_Missense_Mutation_p.L195H|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.L370H|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.L167H|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.L179H|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.L402H|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.L167H	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	370					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)	p.L370H(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						ATTGTCATCAAGATCGGTGAT	0.453																																																	1	Substitution - Missense(1)	kidney(1)											128.0	118.0	121.0					X																	11204520		2203	4300	6503	SO:0001583	missense	395			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1109T>A	X.37:g.11204520A>T	ENSP00000338967:p.Leu370His		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.540924	0.85917	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.27720	1.68;1.65;1.65;1.65;1.68;1.66;1.75;1.79	5.51	5.51	0.81932	.	0.000000	0.47852	D	0.000204	T	0.51295	0.1666	L	0.55990	1.75	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.988;0.992;0.994;0.997;0.998	T	0.53308	-0.8457	10	0.72032	D	0.01	.	14.6981	0.69136	1.0:0.0:0.0:0.0	.	179;167;370;370;370	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	H	195;167;167;370;206;370;179;402	ENSP00000438135:L195H;ENSP00000370112:L167H;ENSP00000302312:L167H;ENSP00000338967:L370H;ENSP00000370093:L206H;ENSP00000370094:L370H;ENSP00000389394:L179H;ENSP00000370108:L402H	ENSP00000302312:L167H	L	-	2	0	ARHGAP6	11114441	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.716000	0.91420	1.852000	0.53769	0.486000	0.48141	CTT		0.453	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2		NM_013427	
ASB1	51665	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	239353054	239353054	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr2:239353054C>T	ENST00000264607.4	+	4	813	c.566C>T	c.(565-567)aCc>aTc	p.T189I	ASB1_ENST00000409297.1_Missense_Mutation_p.T88I	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	189					intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)		p.T189I(1)		breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		CGGCGGCTCACCTCCTTGGTG	0.602																																																	1	Substitution - Missense(1)	kidney(1)											62.0	50.0	54.0					2																	239353054		2203	4300	6503	SO:0001583	missense	51665			AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"""Ankyrin repeat domain containing"""	16011	protein-coding gene	gene with protein product		605758	"""ankyrin repeat and SOCS box-containing 1"""				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.566C>T	2.37:g.239353054C>T	ENSP00000264607:p.Thr189Ile		A6NL50|Q4ZG29|Q9ULS4	Missense_Mutation	SNP	ENST00000264607.4	37	CCDS33416.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331645	0.81690	.	.	ENSG00000065802	ENST00000264607;ENST00000409297	T;T	0.58060	0.36;0.57	5.91	5.91	0.95273	Ankyrin repeat-containing domain (3);	0.146153	0.64402	D	0.000011	T	0.75273	0.3827	M	0.79926	2.475	0.58432	D	0.999999	D	0.89917	1.0	D	0.70487	0.969	T	0.74627	-0.3602	9	.	.	.	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	189	Q9Y576	ASB1_HUMAN	I	189;88	ENSP00000264607:T189I;ENSP00000387025:T88I	.	T	+	2	0	ASB1	239017793	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	4.441000	0.59981	2.793000	0.96121	0.655000	0.94253	ACC		0.602	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328294.1		NM_001040445	
ATF7IP	55729	hgsc.bcm.edu;ucsc.edu	37	12	14650805	14650805	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr12:14650805delA	ENST00000540793.1	+	14	3766	c.3611delA	c.(3610-3612)gaafs	p.E1204fs	ATF7IP_ENST00000544627.1_Frame_Shift_Del_p.E1212fs|ATF7IP_ENST00000261168.4_Frame_Shift_Del_p.E1204fs|ATF7IP_ENST00000536444.1_Frame_Shift_Del_p.E1203fs			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1204	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Interaction with MBD1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TACCATGAGGAACCCAGTGCC	0.498																																																	0													186.0	140.0	156.0					12																	14650805		2203	4300	6503	SO:0001589	frameshift_variant	55729			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.3611delA	12.37:g.14650805delA	ENSP00000444589:p.Glu1204fs		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Frame_Shift_Del	DEL	ENST00000540793.1	37	CCDS8663.1																																																																																				0.498	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1		NM_018179	
B3GNT6	192134	broad.mit.edu;hgsc.bcm.edu	37	11	76751055	76751055	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr11:76751055C>T	ENST00000533140.1	+	2	598	c.460C>T	c.(460-462)Ctc>Ttc	p.L154F	B3GNT6_ENST00000354301.5_Missense_Mutation_p.L154F|B3GNT6_ENST00000421061.1_Missense_Mutation_p.L65F			O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	0					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)	p.L154F(1)		central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						AGTGCGCCGCCTCTTTCTATT	0.746																																																	1	Substitution - Missense(1)	kidney(1)											5.0	6.0	6.0					11																	76751055		1639	3692	5331	SO:0001583	missense	192134			AB073740	CCDS53681.1	11q13.4	2013-02-19			ENSG00000198488	ENSG00000198488		"""Beta 3-glycosyltransferases"""	24141	protein-coding gene	gene with protein product		615315				11821425	Standard	NM_138706		Approved	B3Gn-T6	uc021qnp.1	Q6ZMB0		ENST00000533140.1:c.460C>T	11.37:g.76751055C>T	ENSP00000435352:p.Leu154Phe		Q4TTN0	Missense_Mutation	SNP	ENST00000533140.1	37	CCDS53681.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.140792	0.37825	.	.	ENSG00000198488	ENST00000533140;ENST00000354301;ENST00000421061	T;T;T	0.50001	0.76;0.76;0.76	3.28	2.33	0.28932	.	0.218991	0.38326	N	0.001725	T	0.54255	0.1847	L	0.55103	1.725	0.30748	N	0.745409	D	0.57257	0.979	D	0.65233	0.933	T	0.53173	-0.8476	10	0.40728	T	0.16	.	5.9007	0.18965	0.2222:0.5615:0.2162:0.0	.	154	Q6ZMB0	B3GN6_HUMAN	F	154;154;65	ENSP00000435352:L154F;ENSP00000346256:L154F;ENSP00000403463:L65F	ENSP00000346256:L154F	L	+	1	0	B3GNT6	76428703	0.000000	0.05858	1.000000	0.80357	0.180000	0.23129	-0.374000	0.07484	0.892000	0.36259	0.462000	0.41574	CTC		0.746	B3GNT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382740.2		NM_138706	
BLMH	642	hgsc.bcm.edu;ucsc.edu	37	17	28599644	28599655	+	Splice_Site	DEL	AGCCTAGAAACA	AGCCTAGAAACA	-	rs576860161	byFrequency	TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	AGCCTAGAAACA	AGCCTAGAAACA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr17:28599644_28599655delAGCCTAGAAACA	ENST00000261714.6	-	9	1135_1137	c.961_963delTGTTTCTAGGCT	c.(961-963)tgtdel	p.C321del	BLMH_ENST00000394819.3_Splice_Site_p.C234del|BLMH_ENST00000582669.1_5'Flank	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	321					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	CAAACCACACAGCCTAGAAACAGAAGAAAGAG	0.382																																					Pancreas(127;628 1772 12912 33293 36203)												0																																										SO:0001630	splice_region_variant	642			X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.961-1TGTTTCTAGGCT>-	17.37:g.28599644_28599655delAGCCTAGAAACA			B2R796|Q53F86|Q9UER9	Frame_Shift_Del	DEL	ENST00000261714.6	37	CCDS32604.1																																																																																				0.382	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447940.1		NM_000386	In_Frame_Del
BMP6	654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	7727745	7727745	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr6:7727745G>T	ENST00000283147.6	+	1	716	c.557G>T	c.(556-558)aGc>aTc	p.S186I		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	186					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)	p.S186I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					AACCGCAAGAGCCTTCTGGCC	0.716																																																	1	Substitution - Missense(1)	kidney(1)											8.0	10.0	9.0					6																	7727745		2084	4090	6174	SO:0001583	missense	654			AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.557G>T	6.37:g.7727745G>T	ENSP00000283147:p.Ser186Ile		Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.261819	0.23051	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.73363	-0.74	3.63	2.75	0.32379	Transforming growth factor-beta, N-terminal (1);	0.287491	0.32357	N	0.006218	T	0.50565	0.1623	L	0.50333	1.59	0.35290	D	0.782117	B	0.14012	0.009	B	0.15484	0.013	T	0.48990	-0.8985	10	0.45353	T	0.12	.	9.685	0.40094	0.1081:0.0:0.8919:0.0	.	186	P22004	BMP6_HUMAN	I	108;186;149	ENSP00000283147:S186I	ENSP00000283147:S186I	S	+	2	0	BMP6	7672744	.	.	0.680000	0.29994	0.058000	0.15608	.	.	0.708000	0.31955	0.455000	0.32223	AGC		0.716	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1		NM_001718	
BSDC1	55108	hgsc.bcm.edu;ucsc.edu	37	1	32842305	32842306	+	Frame_Shift_Del	DEL	CT	CT	-	rs376431699		TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr1:32842305_32842306delCT	ENST00000455895.2	-	9	746_747	c.713_714delAG	c.(712-714)gagfs	p.E238fs	BSDC1_ENST00000446293.2_Frame_Shift_Del_p.E255fs|BSDC1_ENST00000526031.1_Frame_Shift_Del_p.E143fs|BSDC1_ENST00000341071.7_Frame_Shift_Del_p.E255fs|BSDC1_ENST00000449308.1_Frame_Shift_Del_p.E238fs|BSDC1_ENST00000419121.2_Frame_Shift_Del_p.E182fs|BSDC1_ENST00000463967.1_5'Flank|BSDC1_ENST00000413080.1_Frame_Shift_Del_p.E177fs	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	238										breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GAACCTTTGCCTCTTTTGGAGA	0.52																																																	0																																										SO:0001589	frameshift_variant	55108			BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.713_714delAG	1.37:g.32842307_32842308delCT	ENSP00000412173:p.Glu238fs		B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Frame_Shift_Del	DEL	ENST00000455895.2	37	CCDS363.2																																																																																				0.520	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020056.3		NM_018045	
GAS8	2622	hgsc.bcm.edu	37	16	90095582	90095582	+	Intron	SNP	T	T	C	rs62640380	byFrequency	TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr16:90095582T>C	ENST00000268699.4	+	2	212				GAS8_ENST00000536122.1_Intron|C16orf3_ENST00000408886.2_Missense_Mutation_p.S57G|GAS8_ENST00000540721.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		acggggcagcttacggggcag	0.662																																																	0													20.0	20.0	20.0					16																	90095582		2195	4300	6495	SO:0001627	intron_variant	750			AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1452T>C	16.37:g.90095582T>C			B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	t	1.231	-0.623993	0.03636	.	.	ENSG00000221819	ENST00000408886	T	0.48836	0.8	.	.	.	.	.	.	.	.	T	0.23330	0.0564	N	0.08118	0	0.80722	P	0.0	.	.	.	.	.	.	T	0.33266	-0.9875	3	.	.	.	.	.	.	.	.	65	O95177	CP003_HUMAN	G	57	ENSP00000386218:S57G	.	S	-	1	0	C16orf3	88623083	0.042000	0.20092	0.034000	0.17996	0.035000	0.12851	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	AGC		0.662	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			
PITHD1	57095	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	24106410	24106410	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr1:24106410C>G	ENST00000246151.4	+	3	410	c.299C>G	c.(298-300)tCa>tGa	p.S100*	RP5-886K2.3_ENST00000427796.1_RNA	NM_020362.4	NP_065095.2	Q9GZP4	PITH1_HUMAN	PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1	100	PITH. {ECO:0000255|PROSITE- ProRule:PRU00864}.					nucleus (GO:0005634)		p.S100*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	6						GATGATGACTCACACCCCTCT	0.418																																																	1	Substitution - Nonsense(1)	kidney(1)											96.0	94.0	94.0					1																	24106410		2203	4300	6503	SO:0001587	stop_gained	0				CCDS240.1	1p36.11	2011-02-21	2011-02-21	2011-02-21	ENSG00000057757	ENSG00000057757			25022	protein-coding gene	gene with protein product	"""TXNL1 C-terminal like"""		"""chromosome 1 open reading frame 128"""	C1orf128		12477932	Standard	NM_020362		Approved	HT014, TXNL1CL	uc001bhq.3	Q9GZP4	OTTHUMG00000002960	ENST00000246151.4:c.299C>G	1.37:g.24106410C>G	ENSP00000246151:p.Ser100*		B2R7J4|Q5QPN6|Q5QPN7|Q9NRI8	Nonsense_Mutation	SNP	ENST00000246151.4	37	CCDS240.1	.	.	.	.	.	.	.	.	.	.	C	38	6.931285	0.97944	.	.	ENSG00000057757	ENST00000246151;ENST00000415372	.	.	.	6.06	6.06	0.98353	.	0.255560	0.41294	D	0.000908	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-0.3263	20.6227	0.99507	0.0:1.0:0.0:0.0	.	.	.	.	X	100;7	.	ENSP00000246151:S100X	S	+	2	0	PITHD1	23978997	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.129000	0.77225	2.885000	0.99019	0.643000	0.83706	TCA		0.418	PITHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008243.1		NM_020362	
C6orf58	352999	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	127901450	127901450	+	Silent	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr6:127901450G>A	ENST00000329722.7	+	3	441	c.429G>A	c.(427-429)gcG>gcA	p.A143A		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	143						extracellular vesicular exosome (GO:0070062)		p.A143A(1)		kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TTCTTGCTGCGGTTGATTCTG	0.368																																																	1	Substitution - coding silent(1)	kidney(1)											163.0	153.0	157.0					6																	127901450		2203	4299	6502	SO:0001819	synonymous_variant	352999			BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.429G>A	6.37:g.127901450G>A			B4E1I0|Q5VUP2	Silent	SNP	ENST00000329722.7	37	CCDS34533.1																																																																																				0.368	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042152.1		NM_001010905	
C9orf84	158401	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	114518734	114518734	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr9:114518734C>A	ENST00000318737.4	-	6	669	c.541G>T	c.(541-543)Gaa>Taa	p.E181*	C9orf84_ENST00000394777.4_Nonsense_Mutation_p.E142*|C9orf84_ENST00000394779.3_Nonsense_Mutation_p.E142*|C9orf84_ENST00000374283.5_Nonsense_Mutation_p.E245*|C9orf84_ENST00000374287.3_Nonsense_Mutation_p.E181*	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	181								p.E181*(1)|p.E142*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATTAAGAATTCATACTCAATA	0.313																																																	2	Substitution - Nonsense(2)	kidney(2)											60.0	63.0	62.0					9																	114518734		2202	4294	6496	SO:0001587	stop_gained	158401			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.541G>T	9.37:g.114518734C>A	ENSP00000322108:p.Glu181*		A2A2V3|Q2M1H8|Q96M73	Nonsense_Mutation	SNP	ENST00000318737.4	37	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632110	0.67015	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000374287;ENST00000318737;ENST00000374283	.	.	.	5.77	3.9	0.45041	.	0.350989	0.24681	N	0.036479	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-6.8572	8.6411	0.33978	0.0:0.8158:0.0:0.1842	.	.	.	.	X	142;142;181;181;245	.	ENSP00000322108:E181X	E	-	1	0	C9orf84	113558555	0.993000	0.37304	0.551000	0.28230	0.014000	0.08584	1.310000	0.33551	1.415000	0.47037	0.655000	0.94253	GAA		0.313	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2		NM_173521	
AK8	158067	broad.mit.edu	37	9	135702270	135702270	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr9:135702270T>G	ENST00000298545.3	-	8	1249	c.728A>C	c.(727-729)gAc>gCc	p.D243A	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	243	Adenylate kinase 1.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.D243A(4)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						ACATGGCTGGTCAGCACTGAT	0.557																																																	4	Substitution - Missense(4)	prostate(2)|kidney(2)											166.0	141.0	149.0					9																	135702270		2203	4300	6503	SO:0001583	missense	0			AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"""Adenylate kinases"""	26526	protein-coding gene	gene with protein product		615365	"""chromosome 9 open reading frame 98"""	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.728A>C	9.37:g.135702270T>G	ENSP00000298545:p.Asp243Ala		A8K821|Q8N9W9	Missense_Mutation	SNP	ENST00000298545.3	37	CCDS6954.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.102259	0.76983	.	.	ENSG00000165695	ENST00000298545	T	0.44881	0.91	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.61502	0.2352	M	0.68593	2.085	0.47949	D	0.999555	D	0.89917	1.0	D	0.74023	0.982	T	0.63567	-0.6608	10	0.51188	T	0.08	-38.791	14.1325	0.65263	0.0:0.0:0.0:1.0	.	243	Q96MA6	KAD8_HUMAN	A	243	ENSP00000298545:D243A	ENSP00000298545:D243A	D	-	2	0	AK8	134692091	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.044000	0.71012	1.938000	0.56188	0.379000	0.24179	GAC		0.557	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1		NM_152572	
CACYBP	27101	hgsc.bcm.edu;ucsc.edu	37	1	174977836	174977836	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr1:174977836delA	ENST00000367679.2	+	5	972	c.524delA	c.(523-525)gaafs	p.E175fs	CACYBP_ENST00000405362.1_Frame_Shift_Del_p.E132fs|MRPS14_ENST00000498253.1_5'Flank|CACYBP_ENST00000367681.2_Frame_Shift_Del_p.E132fs	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	175	Interaction with S100A6. {ECO:0000250}.|Interaction with SKP1.|SGS. {ECO:0000255|PROSITE- ProRule:PRU00386}.				aging (GO:0007568)|cardiac muscle cell differentiation (GO:0055007)|cellular response to calcium ion (GO:0071277)|negative regulation of cell death (GO:0060548)|positive regulation of DNA replication (GO:0045740)|response to growth hormone (GO:0060416)	beta-catenin destruction complex (GO:0030877)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						GAGTGCAAAGAAAAAGAGTGA	0.333																																																	0													70.0	68.0	69.0					1																	174977836		2203	4300	6503	SO:0001589	frameshift_variant	27101			BC022352	CCDS1315.1, CCDS30942.1	1q24-q25	2008-02-05			ENSG00000116161	ENSG00000116161			30423	protein-coding gene	gene with protein product		606186				11389839, 12421809	Standard	XM_005245092		Approved	SIP, S100A6BP	uc001gkj.1	Q9HB71	OTTHUMG00000034941	ENST00000367679.2:c.524delA	1.37:g.174977836delA	ENSP00000356652:p.Glu175fs		B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Frame_Shift_Del	DEL	ENST00000367679.2	37	CCDS1315.1																																																																																				0.333	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084583.3		NM_014412	
CADM2	253559	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	85851226	85851226	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr3:85851226A>G	ENST00000407528.2	+	2	153	c.91A>G	c.(91-93)Aat>Gat	p.N31D	CADM2_ENST00000405615.2_Missense_Mutation_p.N33D|CADM2_ENST00000383699.3_Missense_Mutation_p.N40D|CADM2-AS2_ENST00000467225.1_RNA	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	31	Ig-like V-type.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.N33D(1)|p.N40D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ACTAACACAGAATGTAACCGT	0.403																																																	2	Substitution - Missense(2)	kidney(2)											100.0	86.0	91.0					3																	85851226		2203	4300	6503	SO:0001583	missense	253559			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.91A>G	3.37:g.85851226A>G	ENSP00000384575:p.Asn31Asp		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	A	11.82	1.753540	0.31046	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.26223	1.75;1.75;1.75	5.08	5.08	0.68730	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.099543	0.64402	D	0.000003	T	0.27559	0.0677	N	0.12887	0.27	0.58432	D	0.99999	B;D;D	0.60575	0.006;0.985;0.988	B;D;D	0.75020	0.023;0.966;0.985	T	0.03641	-1.1017	10	0.02654	T	1	.	15.1442	0.72637	1.0:0.0:0.0:0.0	.	33;40;31	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	D	40;31;33	ENSP00000373200:N40D;ENSP00000384575:N31D;ENSP00000384193:N33D	ENSP00000373200:N40D	N	+	1	0	CADM2	85933916	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.910000	0.92685	2.037000	0.60232	0.445000	0.29226	AAT		0.403	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1		NM_153184	
CAPZA2	830	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	116538867	116538867	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr7:116538867A>G	ENST00000361183.3	+	4	336	c.197A>G	c.(196-198)aAa>aGa	p.K66R	CAPZA2_ENST00000490693.1_Missense_Mutation_p.K66R|CAPZA2_ENST00000458284.2_Missense_Mutation_p.K66R	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	66					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|WASH complex (GO:0071203)		p.K66R(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			ACTCCAGTAAAAATTGAAGGT	0.289																																																	1	Substitution - Missense(1)	kidney(1)											90.0	96.0	94.0					7																	116538867		2202	4295	6497	SO:0001583	missense	830				CCDS5768.1	7q31.2-q31.3	2008-07-18			ENSG00000198898	ENSG00000198898			1490	protein-coding gene	gene with protein product	"""F-actin capping protein alpha-2 subunit"""	601571					Standard	NM_006136		Approved	CAPZ, CAPPA2	uc003vil.3	P47755	OTTHUMG00000023185	ENST00000361183.3:c.197A>G	7.37:g.116538867A>G	ENSP00000354947:p.Lys66Arg		B4DG50	Missense_Mutation	SNP	ENST00000361183.3	37	CCDS5768.1	.	.	.	.	.	.	.	.	.	.	A	16.42	3.119221	0.56505	.	.	ENSG00000198898	ENST00000361183;ENST00000458284;ENST00000490693	.	.	.	5.66	5.66	0.87406	.	0.093057	0.64402	D	0.000001	T	0.70176	0.3194	M	0.83223	2.63	0.80722	D	1	B	0.09022	0.002	B	0.19148	0.024	T	0.67070	-0.5763	8	.	.	.	-8.3349	15.8862	0.79251	1.0:0.0:0.0:0.0	.	66	P47755	CAZA2_HUMAN	R	66	.	.	K	+	2	0	CAPZA2	116326103	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.748000	0.91615	2.140000	0.66376	0.460000	0.39030	AAA		0.289	CAPZA2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059506.4		NM_006136	
CASKIN1	57524	broad.mit.edu	37	16	2230531	2230532	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr16:2230531_2230532insG	ENST00000343516.6	-	18	2929_2930	c.2837_2838insC	c.(2836-2838)ccgfs	p.P946fs	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	946	Pro-rich.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GTGGGGGCGGCGGGGGCCCCTT	0.723																																																	0																																										SO:0001589	frameshift_variant	57524			AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.2838dupC	16.37:g.2230536_2230536dupG	ENSP00000345436:p.Pro946fs		Q9P2P0	Frame_Shift_Ins	INS	ENST00000343516.6	37	CCDS42103.1																																																																																				0.723	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1		NM_020764	
TRMT13	54482	hgsc.bcm.edu;ucsc.edu	37	1	100613814	100613814	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr1:100613814delT	ENST00000370141.2	+	10	1188	c.1182delT	c.(1180-1182)aatfs	p.N394fs		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	394					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										ATAATCAGAATGATGATAGTG	0.408																																																	0													130.0	125.0	127.0					1																	100613814		2203	4300	6503	SO:0001589	frameshift_variant	0			BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.1182delT	1.37:g.100613814delT	ENSP00000359160:p.Asn394fs		Q5VVL0|Q9NW65	Frame_Shift_Del	DEL	ENST00000370141.2	37	CCDS765.1																																																																																				0.408	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1		NM_019083	
CCNDBP1	23582	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43482264	43482264	+	Silent	SNP	A	A	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr15:43482264A>C	ENST00000300213.4	+	5	585	c.343A>C	c.(343-345)Aga>Cga	p.R115R	CCNDBP1_ENST00000356633.5_Intron|EPB42_ENST00000563128.1_Intron	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1	115	Interaction with RPLP0.|Interaction with TCF3.|Required for interaction with CCND1.				cell cycle (GO:0007049)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R115R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		GATCACCCTGAGAAAGCTGGT	0.507																																																	1	Substitution - coding silent(1)	kidney(1)											73.0	66.0	69.0					15																	43482264		2203	4299	6502	SO:0001819	synonymous_variant	23582			AF082569	CCDS10092.1	15q14-q15	2008-07-18			ENSG00000166946	ENSG00000166946			1587	protein-coding gene	gene with protein product	"""D-type cyclin-interacting protein 1"", ""MAID protein"", ""HHM Protein"", ""grap2 cyclin interacting protein"""	607089				10801854	Standard	NM_012142		Approved	DIP1, GCIP	uc001zqv.3	O95273	OTTHUMG00000130703	ENST00000300213.4:c.343A>C	15.37:g.43482264A>C			A8K3Q0|A8K3U2|Q6ZQN9|Q7Z519|Q8NBS7|Q8NBY2|Q9NS19|Q9NYH3|Q9UHX9	Silent	SNP	ENST00000300213.4	37	CCDS10092.1																																																																																				0.507	CCNDBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253203.1		NM_012142	
CHI3L1	1116	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	203155750	203155750	+	Start_Codon_SNP	SNP	A	A	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr1:203155750A>G	ENST00000255409.3	-	1	127	c.2T>C	c.(1-3)aTg>aCg	p.M1T		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	1					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.M1T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						CTTCACACCCATTCTGGCTGC	0.602																																																	1	Substitution - Missense(1)	kidney(1)											128.0	121.0	123.0					1																	203155750		2203	4300	6503	SO:0001582	initiator_codon_variant	1116			BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.2T>C	1.37:g.203155750A>G	ENSP00000255409:p.Met1Thr		B2R7B0|P30923|Q8IVA4|Q96HI7	Missense_Mutation	SNP	ENST00000255409.3	37	CCDS1435.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.317754	0.40996	.	.	ENSG00000133048	ENST00000255409	T	0.06849	3.25	4.05	2.93	0.34026	.	0.977000	0.08386	N	0.953696	T	0.11239	0.0274	.	.	.	0.80722	D	1	P	0.47409	0.895	P	0.44518	0.452	T	0.15407	-1.0438	9	0.87932	D	0	-16.4443	6.1634	0.20376	0.8867:0.0:0.1133:0.0	.	1	P36222	CH3L1_HUMAN	T	1	ENSP00000255409:M1T	ENSP00000255409:M1T	M	-	2	0	CHI3L1	201422373	0.887000	0.30362	0.180000	0.23079	0.017000	0.09413	1.585000	0.36600	0.903000	0.36546	0.533000	0.62120	ATG		0.602	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100265.1		NM_001276	Missense_Mutation
CLEC12A	160364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	10132016	10132016	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr12:10132016T>C	ENST00000304361.4	+	3	454	c.272T>C	c.(271-273)cTa>cCa	p.L91P	CLEC12A_ENST00000434319.2_Missense_Mutation_p.L91P|CLEC12A_ENST00000350667.4_Missense_Mutation_p.L58P|CLEC12A_ENST00000355690.4_Missense_Mutation_p.L101P	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.L101P(1)|p.L91P(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						AATATTTCTCTACAACTGATG	0.348																																					Melanoma(197;1487 2125 16611 22221 34855)												2	Substitution - Missense(2)	kidney(2)											68.0	63.0	64.0					12																	10132016		2203	4300	6503	SO:0001583	missense	160364			AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"""C-type lectin domain containing"""	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.272T>C	12.37:g.10132016T>C	ENSP00000302804:p.Leu91Pro		B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Missense_Mutation	SNP	ENST00000304361.4	37	CCDS8608.1	.	.	.	.	.	.	.	.	.	.	T	12.77	2.037260	0.35893	.	.	ENSG00000172322	ENST00000355690;ENST00000396507;ENST00000304361;ENST00000434319;ENST00000350667	T;T;T;T;T	0.08193	4.44;3.12;4.45;3.88;4.37	4.62	3.43	0.39272	C-type lectin-like (1);	.	.	.	.	T	0.23649	0.0572	M	0.75447	2.3	0.20489	N	0.999894	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.977;0.95;0.977	T	0.06250	-1.0837	9	0.32370	T	0.25	.	7.8021	0.29180	0.1859:0.0:0.0:0.8141	.	58;91;101	Q5QGZ9-4;Q5QGZ9;Q5QGZ9-1	.;CL12A_HUMAN;.	P	101;91;91;91;58	ENSP00000347916:L101P;ENSP00000379764:L91P;ENSP00000302804:L91P;ENSP00000405244:L91P;ENSP00000345448:L58P	ENSP00000302804:L91P	L	+	2	0	CLEC12A	10023283	0.001000	0.12720	0.003000	0.11579	0.040000	0.13550	0.824000	0.27379	0.830000	0.34757	0.528000	0.53228	CTA		0.348	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399545.1		NM_138337	
CLEC12A	160364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	10132045	10132045	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr12:10132045A>T	ENST00000304361.4	+	3	483	c.301A>T	c.(301-303)Aac>Tac	p.N101Y	CLEC12A_ENST00000434319.2_Missense_Mutation_p.N101Y|CLEC12A_ENST00000350667.4_Missense_Mutation_p.N68Y|CLEC12A_ENST00000355690.4_Missense_Mutation_p.N111Y	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.N101Y(1)|p.N111Y(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						GAATATCTCCAACAAGATCAG	0.358																																					Melanoma(197;1487 2125 16611 22221 34855)												2	Substitution - Missense(2)	kidney(2)											83.0	75.0	78.0					12																	10132045		2203	4300	6503	SO:0001583	missense	160364			AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"""C-type lectin domain containing"""	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.301A>T	12.37:g.10132045A>T	ENSP00000302804:p.Asn101Tyr		B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Missense_Mutation	SNP	ENST00000304361.4	37	CCDS8608.1	.	.	.	.	.	.	.	.	.	.	A	15.24	2.775678	0.49786	.	.	ENSG00000172322	ENST00000355690;ENST00000396507;ENST00000304361;ENST00000434319;ENST00000350667	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	4.41	-8.82	0.00810	C-type lectin-like (1);	.	.	.	.	T	0.09468	0.0233	N	0.08118	0	0.09310	N	1	D;D;D	0.57899	0.981;0.968;0.981	P;B;P	0.48454	0.578;0.374;0.578	T	0.46638	-0.9177	9	0.54805	T	0.06	.	9.1077	0.36707	0.5304:0.3697:0.0999:0.0	.	68;101;111	Q5QGZ9-4;Q5QGZ9;Q5QGZ9-1	.;CL12A_HUMAN;.	Y	111;101;101;101;68	ENSP00000347916:N111Y;ENSP00000379764:N101Y;ENSP00000302804:N101Y;ENSP00000405244:N101Y;ENSP00000345448:N68Y	ENSP00000302804:N101Y	N	+	1	0	CLEC12A	10023312	0.000000	0.05858	0.000000	0.03702	0.291000	0.27294	-2.591000	0.00899	-2.899000	0.00312	0.528000	0.53228	AAC		0.358	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399545.1		NM_138337	
CLIP1	6249	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	122826194	122826194	+	Silent	SNP	T	T	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr12:122826194T>G	ENST00000540338.1	-	10	1598	c.1557A>C	c.(1555-1557)ctA>ctC	p.L519L	CLIP1_ENST00000361654.4_Silent_p.L473L|CLIP1_ENST00000545889.1_Silent_p.L209L|CLIP1_ENST00000537178.1_Silent_p.L473L|CLIP1_ENST00000302528.7_Silent_p.L508L|CLIP1_ENST00000358808.2_Silent_p.L508L			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	519					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.L508L(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTCTCAATGCTAGGTCTTTCT	0.408																																																	1	Substitution - coding silent(1)	kidney(1)											128.0	130.0	129.0					12																	122826194		2203	4300	6503	SO:0001819	synonymous_variant	6249				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.1557A>C	12.37:g.122826194T>G			A0AVD3|Q17RS4|Q29RG0	Silent	SNP	ENST00000540338.1	37	CCDS58285.1																																																																																				0.408	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1		NM_002956	
CNRIP1	25927	broad.mit.edu	37	2	68546472	68546472	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr2:68546472C>A	ENST00000263655.3	-	1	666	c.61G>T	c.(61-63)Ggc>Tgc	p.G21C	CNRIP1_ENST00000409559.3_Missense_Mutation_p.G21C|CNRIP1_ENST00000409862.1_Missense_Mutation_p.G21C|CNRIP1_ENST00000481714.1_Intron	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	21								p.G21C(2)		kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						AAGACCGGGCCGTCATTAGGC	0.662																																																	2	Substitution - Missense(2)	kidney(2)											42.0	33.0	36.0					2																	68546472		2181	4279	6460	SO:0001583	missense	25927			AL110235	CCDS1886.1, CCDS46311.1	2p13	2008-02-05	2007-11-29	2007-11-29	ENSG00000119865	ENSG00000119865			24546	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 32"""	C2orf32		12477932	Standard	NM_015463		Approved	DKFZP566K1924, CRIP1, CRIP1a, CRIP1b	uc002sek.4	Q96F85	OTTHUMG00000129565	ENST00000263655.3:c.61G>T	2.37:g.68546472C>A	ENSP00000263655:p.Gly21Cys		B2R4D0|Q49AN4|Q9UFZ0	Missense_Mutation	SNP	ENST00000263655.3	37	CCDS1886.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104686	0.77096	.	.	ENSG00000119865	ENST00000409559;ENST00000263655;ENST00000409862	.	.	.	4.83	3.02	0.34903	.	0.213804	0.43579	D	0.000556	T	0.66587	0.2804	L	0.54323	1.7	0.52501	D	0.999957	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.70487	0.969;0.958;0.951	T	0.65734	-0.6096	9	0.72032	D	0.01	-4.7061	8.0598	0.30627	0.1572:0.7621:0.0:0.0807	.	21;21;21	B8ZZB8;Q96F85;Q96F85-2	.;CNRP1_HUMAN;.	C	21	.	ENSP00000263655:G21C	G	-	1	0	CNRIP1	68399976	1.000000	0.71417	0.676000	0.29932	0.961000	0.63080	4.289000	0.59013	0.623000	0.30267	0.491000	0.48974	GGC		0.662	CNRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251758.1		NM_015463	
COL4A1	1282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	110835582	110835582	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr13:110835582G>A	ENST00000375820.4	-	27	2060	c.1939C>T	c.(1939-1941)Ccc>Tcc	p.P647S		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	647	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)	p.P647S(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GCTCCAGGGGGGCCTGGTAAA	0.537																																																	1	Substitution - Missense(1)	kidney(1)											26.0	27.0	27.0					13																	110835582		2203	4300	6503	SO:0001583	missense	1282			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.1939C>T	13.37:g.110835582G>A	ENSP00000364979:p.Pro647Ser		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	G	8.441	0.850762	0.17034	.	.	ENSG00000187498	ENST00000375820	D	0.98649	-5.05	4.17	4.17	0.49024	.	0.119516	0.56097	D	0.000021	D	0.97626	0.9222	L	0.45422	1.42	0.80722	D	1	D	0.65815	0.995	P	0.59012	0.85	D	0.96304	0.9223	10	0.07030	T	0.85	.	12.9944	0.58638	0.0:0.0:0.8382:0.1618	.	647	P02462	CO4A1_HUMAN	S	647	ENSP00000364979:P647S	ENSP00000364979:P647S	P	-	1	0	COL4A1	109633583	1.000000	0.71417	0.827000	0.32855	0.118000	0.20060	6.192000	0.72069	2.328000	0.79073	0.561000	0.74099	CCC		0.537	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			
COLEC10	10584	broad.mit.edu;hgsc.bcm.edu	37	8	120101991	120101991	+	Splice_Site	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr8:120101991G>A	ENST00000332843.2	+	2	261		c.e2+1		COLEC10_ENST00000521788.1_Splice_Site	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)							collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.?(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GGGCCGAAAGGTAACTAAAAT	0.423																																																	1	Unknown(1)	kidney(1)											114.0	99.0	104.0					8																	120101991		2203	4300	6503	SO:0001630	splice_region_variant	10584			AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"""Collectins"""	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.220+1G>A	8.37:g.120101991G>A			Q3SYH6|Q6UW19	Splice_Site	SNP	ENST00000332843.2	37	CCDS6327.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052535	0.36181	.	.	ENSG00000184374	ENST00000332843	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7986	0.78433	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COLEC10	120171172	1.000000	0.71417	1.000000	0.80357	0.185000	0.23345	5.095000	0.64529	2.793000	0.96121	0.655000	0.94253	.		0.423	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1			Intron
CPXM1	56265	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	2775211	2775211	+	Silent	SNP	C	C	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr20:2775211C>T	ENST00000380605.2	-	13	1999	c.1935G>A	c.(1933-1935)gtG>gtA	p.V645V		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	645					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.V645V(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TAATCCCATCCACGGCAATGA	0.577																																																	1	Substitution - coding silent(1)	kidney(1)											170.0	113.0	132.0					20																	2775211		2203	4300	6503	SO:0001819	synonymous_variant	56265			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1935G>A	20.37:g.2775211C>T			Q6P4G8|Q6UW65|Q9NUB5	Silent	SNP	ENST00000380605.2	37	CCDS13033.1																																																																																				0.577	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2		NM_019609	
CPNE1	8904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	34219486	34219486	+	Silent	SNP	A	A	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr20:34219486A>G	ENST00000317619.3	-	10	1036	c.642T>C	c.(640-642)gaT>gaC	p.D214D	CPNE1_ENST00000397442.1_Silent_p.D214D|CPNE1_ENST00000397443.1_Silent_p.D214D|CPNE1_ENST00000397446.1_Silent_p.D214D|CPNE1_ENST00000317677.5_Silent_p.D219D|CPNE1_ENST00000397445.1_Silent_p.D214D|CPNE1_ENST00000352393.4_Silent_p.D214D			Q99829	CPNE1_HUMAN	copine I	214	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.D214D(1)		breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CACTGTCATAATCGGAGCATT	0.567																																																	1	Substitution - coding silent(1)	kidney(1)											69.0	50.0	57.0					20																	34219486		2203	4300	6503	SO:0001819	synonymous_variant	8904			U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.642T>C	20.37:g.34219486A>G			E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Silent	SNP	ENST00000317619.3	37	CCDS13260.1																																																																																				0.567	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078909.3		NM_152930	
CSF2RA	1438	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	1422842	1422842	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chrX:1422842G>C	ENST00000381524.3	+	11	1159	c.973G>C	c.(973-975)Gtg>Ctg	p.V325L	CSF2RA_ENST00000501036.2_Missense_Mutation_p.V192L|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000381500.1_Intron|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000417535.2_Missense_Mutation_p.V359L|CSF2RA_ENST00000432318.2_Missense_Mutation_p.V325L|CSF2RA_ENST00000381529.3_Missense_Mutation_p.V325L|CSF2RA_ENST00000381509.3_Missense_Mutation_p.V325L			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	325					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.V325L(2)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCTCGGCTCTGTGTACATTTA	0.512																																					Esophageal Squamous(131;723 1707 25334 40494 41806)												2	Substitution - Missense(2)	kidney(2)											484.0	427.0	447.0					X																	1422842		2203	4296	6499	SO:0001583	missense	1438			M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.973G>C	X.37:g.1422842G>C	ENSP00000370935:p.Val325Leu		A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	1.670	-0.509166	0.04231	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000501036;ENST00000381524;ENST00000381509;ENST00000417535	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51	0.806	0.806	0.18708	.	2.056800	0.03791	U	0.262831	T	0.18173	0.0436	.	.	.	0.19300	N	0.999975	B;B;B	0.21225	0.045;0.031;0.053	B;B;B	0.14023	0.01;0.008;0.01	T	0.18650	-1.0330	8	.	.	.	.	4.8831	0.13690	0.0:0.0:1.0:0.0	.	325;359;325	P15509-2;A7J003;P15509	.;.;CSF2R_HUMAN	L	325;325;192;325;325;359	ENSP00000370940:V325L;ENSP00000416437:V325L;ENSP00000440491:V192L;ENSP00000370935:V325L;ENSP00000370920:V325L;ENSP00000394227:V359L	.	V	+	1	0	CSF2RA	1382842	0.000000	0.05858	0.004000	0.12327	0.070000	0.16714	-0.100000	0.10990	0.736000	0.32559	0.100000	0.15512	GTG		0.512	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			
CSMD1	64478	hgsc.bcm.edu;ucsc.edu	37	8	3141831	3141831	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr8:3141831delC	ENST00000520002.1	-	27	4546	c.3991delG	c.(3991-3993)gacfs	p.D1331fs	CSMD1_ENST00000542608.1_Frame_Shift_Del_p.D1330fs|CSMD1_ENST00000602723.1_Frame_Shift_Del_p.D1331fs|CSMD1_ENST00000602557.1_Frame_Shift_Del_p.D1331fs|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Frame_Shift_Del_p.D1331fs|CSMD1_ENST00000539096.1_Frame_Shift_Del_p.D1330fs|CSMD1_ENST00000537824.1_Frame_Shift_Del_p.D1330fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1331	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTGAGGATGTCGTGAGCCATC	0.572											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													85.0	90.0	88.0					8																	3141831		2120	4227	6347	SO:0001589	frameshift_variant	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3991delG	8.37:g.3141831delC	ENSP00000430733:p.Asp1331fs	608	Q0H0J5|Q96QU9|Q96RM4	Frame_Shift_Del	DEL	ENST00000520002.1	37																																																																																					0.572	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2		NM_033225	
CSMD3	114788	broad.mit.edu;hgsc.bcm.edu	37	8	113421242	113421242	+	Silent	SNP	T	T	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr8:113421242T>C	ENST00000297405.5	-	33	5659	c.5415A>G	c.(5413-5415)gtA>gtG	p.V1805V	CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000343508.3_Silent_p.V1765V|CSMD3_ENST00000455883.2_Silent_p.V1701V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1805	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V1805V(1)|p.V1765V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTGGAAAAATACAAACTGGC	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							2	Substitution - coding silent(2)	kidney(2)											132.0	121.0	125.0					8																	113421242		2203	4300	6503	SO:0001819	synonymous_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5415A>G	8.37:g.113421242T>C			Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900	
DFNA5	1687	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	24738852	24738852	+	Silent	SNP	T	T	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr7:24738852T>C	ENST00000342947.3	-	10	1709	c.1284A>G	c.(1282-1284)gtA>gtG	p.V428V	DFNA5_ENST00000545231.1_Silent_p.V264V|DFNA5_ENST00000409970.1_Silent_p.V264V|DFNA5_ENST00000409775.3_Silent_p.V428V|DFNA5_ENST00000419307.1_Silent_p.V264V	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	428					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)		p.V428V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CAAGATCAGATACTCCATCAT	0.408																																					GBM(78;184 1250 20134 20900 23600)												1	Substitution - coding silent(1)	kidney(1)											61.0	57.0	58.0					7																	24738852		2203	4300	6503	SO:0001819	synonymous_variant	1687			AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.1284A>G	7.37:g.24738852T>C			A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Silent	SNP	ENST00000342947.3	37	CCDS5389.1																																																																																				0.408	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2		NM_004403	
DHRS4L2	317749	broad.mit.edu;hgsc.bcm.edu	37	14	24459472	24459472	+	Silent	SNP	C	C	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr14:24459472C>T	ENST00000335125.6	+	2	336	c.210C>T	c.(208-210)gaC>gaT	p.D70D	DHRS4L2_ENST00000543805.1_5'UTR|DHRS4L2_ENST00000534993.1_5'UTR|DHRS4L2_ENST00000397071.1_Silent_p.D70D|DHRS4L2_ENST00000382755.4_Silent_p.D68D|DHRS4L2_ENST00000537912.1_Silent_p.D70D|DHRS4L2_ENST00000545240.1_Silent_p.D70D|DHRS4L2_ENST00000558753.1_Silent_p.D70D	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	68						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)	p.D70D(1)		breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		AGAATGTGGACCAGGCGGTGG	0.677																																																	1	Substitution - coding silent(1)	kidney(1)											42.0	46.0	45.0					14																	24459472		2202	4299	6501	SO:0001819	synonymous_variant	317749				CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	19731	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 3"""	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.210C>T	14.37:g.24459472C>T			Q3YLD4	Silent	SNP	ENST00000335125.6	37	CCDS9606.2																																																																																				0.677	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4			
DRD3	1814	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	113858392	113858392	+	Silent	SNP	T	T	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr3:113858392T>A	ENST00000460779.1	-	6	967	c.678A>T	c.(676-678)cgA>cgT	p.R226R	DRD3_ENST00000383673.2_Silent_p.R226R|DRD3_ENST00000467632.1_Silent_p.R226R|DRD3_ENST00000295881.7_Silent_p.R226R	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	226					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)	p.R226R(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GACTGTTCTGTCGAGTGAGGA	0.527																																																	1	Substitution - coding silent(1)	kidney(1)											192.0	189.0	190.0					3																	113858392		2203	4300	6503	SO:0001819	synonymous_variant	1814				CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.678A>T	3.37:g.113858392T>A			A1A4V5|Q4VBM8	Silent	SNP	ENST00000460779.1	37	CCDS2978.1																																																																																				0.527	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1		NM_000796.3	
EDC4	23644	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67912713	67912713	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr16:67912713T>C	ENST00000358933.5	+	11	1497	c.1258T>C	c.(1258-1260)Tac>Cac	p.Y420H	EDC4_ENST00000574770.1_3'UTR|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	420					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.Y420H(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTCAGCAGAATACCTGATTCT	0.557																																																	1	Substitution - Missense(1)	kidney(1)											124.0	130.0	128.0					16																	67912713		2198	4300	6498	SO:0001583	missense	23644			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1258T>C	16.37:g.67912713T>C	ENSP00000351811:p.Tyr420His		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.034917	0.75617	.	.	ENSG00000038358	ENST00000358933;ENST00000536072	T	0.07021	3.23	6.17	6.17	0.99709	.	0.117339	0.64402	D	0.000011	T	0.20780	0.0500	L	0.47190	1.495	0.48040	D	0.999573	D;D;D	0.71674	0.998;0.983;0.996	P;P;P	0.62014	0.897;0.773;0.853	T	0.00380	-1.1776	10	0.34782	T	0.22	-11.138	16.4837	0.84171	0.0:0.0:0.0:1.0	.	352;39;420	B7Z7V8;Q6P2E9-2;Q6P2E9	.;.;EDC4_HUMAN	H	420;352	ENSP00000351811:Y420H	ENSP00000351811:Y420H	Y	+	1	0	EDC4	66470214	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	7.662000	0.83803	2.371000	0.80710	0.533000	0.62120	TAC		0.557	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2		NM_014329	
EPS8L2	64787	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	710481	710481	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr11:710481G>C	ENST00000533256.1	+	5	535	c.160G>C	c.(160-162)Gtc>Ctc	p.V54L	EPS8L2_ENST00000318562.8_Missense_Mutation_p.V54L|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Missense_Mutation_p.V54L|EPS8L2_ENST00000526198.1_Missense_Mutation_p.V54L			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	54	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)	p.V54L(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGTACCACGTCCAGGTAAG	0.577																																																	1	Substitution - Missense(1)	kidney(1)											148.0	122.0	131.0					11																	710481		2203	4300	6503	SO:0001583	missense	64787			AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.160G>C	11.37:g.710481G>C	ENSP00000435585:p.Val54Leu		B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Missense_Mutation	SNP	ENST00000533256.1	37	CCDS31328.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988391	0.93106	.	.	ENSG00000177106	ENST00000524763;ENST00000318562;ENST00000533256;ENST00000534755;ENST00000533500;ENST00000531348;ENST00000530636;ENST00000526198	T;T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53	3.89	3.89	0.44902	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.000000	0.64402	D	0.000001	T	0.71048	0.3294	M	0.78801	2.425	0.58432	D	0.999999	D;D;D	0.76494	0.993;0.999;0.991	P;D;P	0.71184	0.883;0.972;0.787	T	0.74438	-0.3665	10	0.48119	T	0.1	-45.7822	15.1795	0.72945	0.0:0.0:1.0:0.0	.	54;82;54	B7ZKL3;B4DFD2;Q9H6S3	.;.;ES8L2_HUMAN	L	54	ENSP00000435128:V54L;ENSP00000320828:V54L;ENSP00000435585:V54L;ENSP00000432923:V54L;ENSP00000433223:V54L;ENSP00000432765:V54L;ENSP00000436035:V54L;ENSP00000436230:V54L	ENSP00000320828:V54L	V	+	1	0	EPS8L2	700481	1.000000	0.71417	0.974000	0.42286	0.723000	0.41478	8.574000	0.90763	2.187000	0.69744	0.555000	0.69702	GTC		0.577	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1		NM_022772	
FAM101A	144347	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	124798830	124798830	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr12:124798830C>T	ENST00000389727.3	+	3	410	c.410C>T	c.(409-411)aCc>aTc	p.T137I	FAM101A_ENST00000324038.3_Missense_Mutation_p.T56I|FAM101A_ENST00000546355.1_Missense_Mutation_p.T56I|FAM101A_ENST00000338359.4_Missense_Mutation_p.T56I			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	137								p.T56I(1)		endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		TACAGCGAGACCATCGTGGCA	0.632																																																	1	Substitution - Missense(1)	kidney(1)											104.0	91.0	95.0					12																	124798830		2203	4300	6503	SO:0001583	missense	144347				CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000389727.3:c.410C>T	12.37:g.124798830C>T	ENSP00000374377:p.Thr137Ile		A5D8T5	Missense_Mutation	SNP	ENST00000389727.3	37		.	.	.	.	.	.	.	.	.	.	C	18.11	3.551183	0.65311	.	.	ENSG00000178882	ENST00000324038;ENST00000541200;ENST00000389727;ENST00000546355;ENST00000338359	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.80607	0.4655	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84257	0.0481	9	0.87932	D	0	-0.6572	17.6136	0.88061	0.0:1.0:0.0:0.0	.	137	Q6ZTI6	F101A_HUMAN	I	56;56;137;56;56	.	ENSP00000315626:T56I	T	+	2	0	FAM101A	123364783	1.000000	0.71417	0.977000	0.42913	0.084000	0.17831	7.361000	0.79497	2.148000	0.66965	0.555000	0.69702	ACC		0.632	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_181709	
FASTKD2	22868	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	207639092	207639092	+	Silent	SNP	C	C	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr2:207639092C>A	ENST00000236980.6	+	7	1746	c.1398C>A	c.(1396-1398)ctC>ctA	p.L466L	FASTKD2_ENST00000402774.3_Silent_p.L466L|FASTKD2_ENST00000403094.3_Silent_p.L466L	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	466					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.L466L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		ACTCTTCTCTCAATCATGTCT	0.303																																																	1	Substitution - coding silent(1)	kidney(1)											108.0	112.0	110.0					2																	207639092		2202	4298	6500	SO:0001819	synonymous_variant	22868			BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"""KIAA0971"""	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.1398C>A	2.37:g.207639092C>A			Q9NVX6|Q9Y2H7	Silent	SNP	ENST00000236980.6	37	CCDS2371.1																																																																																				0.303	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2		NM_014929	
FAM86B3P	286042	broad.mit.edu	37	8	8096026	8096026	+	RNA	SNP	T	T	G	rs200485466		TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr8:8096026T>G	ENST00000310542.3	+	0	0				ALG1L13P_ENST00000523017.1_RNA					family with sequence similarity 86, member B3, pseudogene																		TGACCCCTGATGCATAGCCCT	0.667																																																	0																																												0					8p23.1	2013-06-10			ENSG00000173295	ENSG00000173295			44371	pseudogene	pseudogene							Standard	NR_024361		Approved		uc011kwt.2		OTTHUMG00000163669		8.37:g.8096026T>G				RNA	SNP	ENST00000310542.3	37																																																																																					0.667	FAM86B3P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000448496.1			
MROH5	389690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	142445230	142445230	+	RNA	SNP	G	G	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr8:142445230G>C	ENST00000606664.1	+	0	586				MROH5_ENST00000430863.1_RNA																							CTCTCACCAGGCAGGTCCAGA	0.682																																																	0													21.0	27.0	25.0					8																	142445230		2005	4154	6159			0																															8.37:g.142445230G>C				Missense_Mutation	SNP	ENST00000606664.1	37																																																																																					0.682	CTD-3064M3.7-001	KNOWN	non_canonical_TEC|basic	antisense	antisense	OTTHUMT00000470872.1			
FPGS	2356	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	130575544	130575544	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr9:130575544C>G	ENST00000373247.2	+	15	1475	c.1425C>G	c.(1423-1425)aaC>aaG	p.N475K	FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000460181.1_3'UTR|RP11-228B15.4_ENST00000439298.1_RNA|FPGS_ENST00000373225.3_Missense_Mutation_p.N425K|FPGS_ENST00000393706.2_Missense_Mutation_p.N449K	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	475					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)	p.N475K(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	AGCACTGGAACCACCTGGACG	0.652																																																	1	Substitution - Missense(1)	kidney(1)											52.0	47.0	49.0					9																	130575544		2203	4300	6503	SO:0001583	missense	2356				CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.1425C>G	9.37:g.130575544C>G	ENSP00000362344:p.Asn475Lys		B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	37	CCDS35148.1	.	.	.	.	.	.	.	.	.	.	C	1.294	-0.606795	0.03717	.	.	ENSG00000136877	ENST00000373247;ENST00000393706;ENST00000373225	T;T;T	0.12672	3.07;3.07;2.66	5.03	3.18	0.36537	.	0.463106	0.25211	N	0.032306	T	0.07458	0.0188	L	0.28274	0.84	0.58432	D	0.999992	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.007	T	0.22871	-1.0204	10	0.13853	T	0.58	-10.8719	4.3001	0.10920	0.0:0.5418:0.1877:0.2705	.	449;475	Q05932-4;Q05932	.;FOLC_HUMAN	K	475;449;425	ENSP00000362344:N475K;ENSP00000377309:N449K;ENSP00000362322:N425K	ENSP00000362322:N425K	N	+	3	2	FPGS	129615365	0.000000	0.05858	0.894000	0.35097	0.785000	0.44390	0.055000	0.14229	1.117000	0.41842	0.555000	0.69702	AAC		0.652	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1			
FYB	2533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	39202847	39202847	+	Silent	SNP	T	T	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr5:39202847T>C	ENST00000351578.6	-	2	406	c.216A>G	c.(214-216)gaA>gaG	p.E72E	FYB_ENST00000512982.1_Silent_p.E72E|FYB_ENST00000515010.1_Silent_p.E72E|FYB_ENST00000505428.1_Silent_p.E72E|FYB_ENST00000540520.1_Silent_p.E82E	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	72					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.E72E(3)|p.E82E(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGTCAGGCTTTTCCTCAGAAG	0.557																																																	4	Substitution - coding silent(4)	kidney(4)											48.0	45.0	46.0					5																	39202847		1869	4115	5984	SO:0001819	synonymous_variant	2533			U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.216A>G	5.37:g.39202847T>C			A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Silent	SNP	ENST00000351578.6	37	CCDS47200.1																																																																																				0.557	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1		NM_001465	
GDAP1L1	78997	hgsc.bcm.edu	37	20	42876070	42876070	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr20:42876070C>G	ENST00000342560.5	+	1	184	c.96C>G	c.(94-96)gaC>gaG	p.D32E	GDAP1L1_ENST00000372952.3_Missense_Mutation_p.D32E|GDAP1L1_ENST00000537864.1_5'UTR	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	32										endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGGCCCCCGACGCTCCCGAGG	0.692																																																	0													9.0	10.0	10.0					20																	42876070		2176	4271	6447	SO:0001583	missense	78997				CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194			4213	protein-coding gene	gene with protein product							Standard	NM_024034		Approved		uc010zwl.3	Q96MZ0	OTTHUMG00000032530	ENST00000342560.5:c.96C>G	20.37:g.42876070C>G	ENSP00000341782:p.Asp32Glu		B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Missense_Mutation	SNP	ENST00000342560.5	37	CCDS13328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.349|7.349	0.622532|0.622532	0.14193|0.14193	.|.	.|.	ENSG00000124194|ENSG00000124194	ENST00000342560;ENST00000372946;ENST00000438466;ENST00000372952|ENST00000372947;ENST00000545149	D;D;T|.	0.98792|.	-5.14;-4.64;-0.92|.	4.2|4.2	2.12|2.12	0.27331|0.27331	Thioredoxin-like fold (1);|.	0.771673|.	0.12273|.	N|.	0.483612|.	T|T	0.20618|0.20618	0.0496|0.0496	N|N	0.04508|0.04508	-0.205|-0.205	0.80722|0.80722	D|D	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.04013|.	0.0;0.0;0.001|.	T|T	0.04522|0.04522	-1.0945|-1.0945	10|6	0.02654|0.22109	T|T	1|0.4	.|.	2.1183|2.1183	0.03719|0.03719	0.287:0.3632:0.2495:0.1002|0.287:0.3632:0.2495:0.1002	.|.	32;32;32|.	B7Z1I3;B7Z621;Q96MZ0|.	.;.;GD1L1_HUMAN|.	E|G	32|32;3	ENSP00000341782:D32E;ENSP00000392881:D32E;ENSP00000362043:D32E|.	ENSP00000341782:D32E|ENSP00000362038:R32G	D|R	+|+	3|1	2|0	GDAP1L1|GDAP1L1	42309484|42309484	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	0.407000|0.407000	0.21049|0.21049	0.991000|0.991000	0.38814|0.38814	0.462000|0.462000	0.41574|0.41574	GAC|CGC		0.692	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079356.1		NM_024034	
GRAMD1C	54762	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	113627861	113627861	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr3:113627861delA	ENST00000358160.4	+	9	1338	c.846delA	c.(844-846)ccafs	p.P282fs	GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Frame_Shift_Del_p.P77fs|GRAMD1C_ENST00000472026.1_Frame_Shift_Del_p.P115fs	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	282						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						GTCTCTTACCAACTTTGGAAA	0.363																																																	0													79.0	84.0	82.0					3																	113627861		2203	4300	6503	SO:0001589	frameshift_variant	54762				CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.846delA	3.37:g.113627861delA	ENSP00000350881:p.Pro282fs		A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Frame_Shift_Del	DEL	ENST00000358160.4	37	CCDS33826.1																																																																																				0.363	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1		NM_017577	
GTF3C1	2975	hgsc.bcm.edu;ucsc.edu	37	16	27500985	27500986	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr16:27500985_27500986insT	ENST00000356183.4	-	20	3245_3246	c.3230_3231insA	c.(3229-3231)gagfs	p.E1077fs	GTF3C1_ENST00000561623.1_Frame_Shift_Ins_p.E1077fs	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1077					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CGCTCTCCTGCTCCTTCTGCAG	0.653																																																	0																																										SO:0001589	frameshift_variant	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.3231dupA	16.37:g.27500986_27500986dupT	ENSP00000348510:p.Glu1077fs		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Frame_Shift_Ins	INS	ENST00000356183.4	37	CCDS32414.1																																																																																				0.653	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1		NM_001520	
H3F3C	440093	broad.mit.edu;hgsc.bcm.edu	37	12	31944927	31944927	+	Silent	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr12:31944927G>A	ENST00000340398.3	-	1	248	c.174C>T	c.(172-174)acC>acT	p.T58T		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	58					positive regulation of cell growth (GO:0030307)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	nucleosomal DNA binding (GO:0031492)	p.T58T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						TGAGCAGCTCGGTCGACTTCT	0.607										HNSCC(67;0.2)																																							1	Substitution - coding silent(1)	kidney(1)											79.0	73.0	75.0					12																	31944927		2203	4298	6501	SO:0001819	synonymous_variant	440093			BC066906	CCDS31769.1	12p11.21	2012-02-15			ENSG00000188375	ENSG00000188375		"""Histones / Replication-independent"""	33164	protein-coding gene	gene with protein product						21274551	Standard	NM_001013699		Approved	H3.5	uc001rkr.3	Q6NXT2	OTTHUMG00000157811	ENST00000340398.3:c.174C>T	12.37:g.31944927G>A			E9P281	Silent	SNP	ENST00000340398.3	37	CCDS31769.1																																																																																				0.607	H3F3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349653.1		NM_001013699	
HMCN1	83872	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	186151399	186151399	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr1:186151399A>T	ENST00000271588.4	+	105	16623	c.16394A>T	c.(16393-16395)cAc>cTc	p.H5465L	HMCN1_ENST00000367492.2_Missense_Mutation_p.H5348L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5465	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.H5465L(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAACTCACACACAATGGAAAG	0.383																																																	1	Substitution - Missense(1)	kidney(1)											116.0	108.0	111.0					1																	186151399		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.16394A>T	1.37:g.186151399A>T	ENSP00000271588:p.His5465Leu		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	9.797	1.179366	0.21787	.	.	ENSG00000143341	ENST00000271588;ENST00000367492;ENST00000414277	D;D;D	0.94232	-3.38;-3.38;-3.38	5.42	3.07	0.35406	Growth factor, receptor (1);EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.414610	0.28544	N	0.014964	T	0.81635	0.4864	N	0.14661	0.345	0.18873	N	0.999988	B	0.02656	0.0	B	0.01281	0.0	T	0.64313	-0.6437	10	0.17832	T	0.49	.	1.4411	0.02354	0.3128:0.2744:0.0:0.4128	.	5465	Q96RW7	HMCN1_HUMAN	L	5465;5348;140	ENSP00000271588:H5465L;ENSP00000356462:H5348L;ENSP00000406205:H140L	ENSP00000271588:H5465L	H	+	2	0	HMCN1	184418022	0.988000	0.35896	1.000000	0.80357	0.984000	0.73092	2.613000	0.46351	0.882000	0.36016	-0.389000	0.06534	CAC		0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935	
IDI2	91734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	1066837	1066837	+	Splice_Site	SNP	C	C	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr10:1066837C>G	ENST00000277517.1	-	4	300	c.236G>C	c.(235-237)gGg>gCg	p.G79A	IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000434470.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000420381.1_RNA	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	79	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isopentenyl diphosphate metabolic process (GO:0046490)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|metal ion binding (GO:0046872)	p.G79A(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		GGTAAAATACCCTGGAAAAAA	0.443																																																	1	Substitution - Missense(1)	kidney(1)											89.0	86.0	87.0					10																	1066837		2203	4300	6503	SO:0001630	splice_region_variant	91734			AF271725	CCDS7055.1	10p15.3	2003-11-19			ENSG00000148377	ENSG00000148377			23487	protein-coding gene	gene with protein product		615389				12477932	Standard	NM_033261		Approved	IPPI2	uc001ifv.1	Q9BXS1	OTTHUMG00000017537	ENST00000277517.1:c.236-1G>C	10.37:g.1066837C>G				Missense_Mutation	SNP	ENST00000277517.1	37	CCDS7055.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869926	0.33069	.	.	ENSG00000148377	ENST00000277517	T	0.11495	2.77	3.93	3.01	0.34805	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.054535	0.64402	U	0.000001	T	0.26882	0.0658	M	0.77103	2.36	0.45318	D	0.998317	D	0.89917	1.0	D	0.74023	0.982	T	0.02821	-1.1106	10	0.26408	T	0.33	.	7.668	0.28443	0.0:0.7331:0.0:0.2669	.	79	Q9BXS1	IDI2_HUMAN	A	79	ENSP00000277517:G79A	ENSP00000277517:G79A	G	-	2	0	IDI2	1056837	0.984000	0.35163	0.396000	0.26296	0.231000	0.25187	2.520000	0.45554	0.763000	0.33175	0.185000	0.17295	GGG		0.443	IDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046411.1		NM_033261	Missense_Mutation
IDE	3416	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	94297189	94297189	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr10:94297189T>A	ENST00000265986.6	-	2	273	c.217A>T	c.(217-219)Atc>Ttc	p.I73F		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	73					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.I73F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	AGTACTTTGATACCATTGGCC	0.403																																																	1	Substitution - Missense(1)	kidney(1)											230.0	204.0	213.0					10																	94297189		2203	4300	6503	SO:0001583	missense	3416			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.217A>T	10.37:g.94297189T>A	ENSP00000265986:p.Ile73Phe		B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.508438	0.64410	.	.	ENSG00000119912	ENST00000265986;ENST00000436178	T;T	0.31247	1.5;1.5	5.58	5.58	0.84498	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.066143	0.64402	D	0.000004	T	0.24470	0.0593	N	0.19112	0.55	0.80722	D	1	B	0.29627	0.252	B	0.30401	0.115	T	0.07770	-1.0755	10	0.87932	D	0	-10.4466	15.7482	0.77962	0.0:0.0:0.0:1.0	.	73	P14735	IDE_HUMAN	F	73;59	ENSP00000265986:I73F;ENSP00000408850:I59F	ENSP00000265986:I73F	I	-	1	0	IDE	94287169	1.000000	0.71417	0.922000	0.36590	0.960000	0.62799	6.163000	0.71880	2.120000	0.65058	0.533000	0.62120	ATC		0.403	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1		NM_004969	
HPS6	79803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	103827518	103827518	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr10:103827518G>T	ENST00000299238.5	+	1	2372	c.2287G>T	c.(2287-2289)Gac>Tac	p.D763Y		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	763					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)	p.D763Y(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CATCCTATGGGACCCCAGCAC	0.607									Hermansky-Pudlak syndrome																																								1	Substitution - Missense(1)	kidney(1)											37.0	40.0	39.0					10																	103827518		2194	4275	6469	SO:0001583	missense	79803	Familial Cancer Database	HPS, HPS1-8	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.2287G>T	10.37:g.103827518G>T	ENSP00000299238:p.Asp763Tyr		Q5VV69|Q9H685	Missense_Mutation	SNP	ENST00000299238.5	37	CCDS7527.1	.	.	.	.	.	.	.	.	.	.	G	8.052	0.766173	0.15983	.	.	ENSG00000166189	ENST00000299238	T	0.81415	-1.49	4.98	4.09	0.47781	.	0.338109	0.31156	N	0.008158	D	0.82761	0.5107	L	0.57536	1.79	0.27572	N	0.949852	P	0.39940	0.696	P	0.51355	0.667	T	0.77043	-0.2734	10	0.72032	D	0.01	-11.436	9.2782	0.37711	0.17:0.0:0.83:0.0	.	763	Q86YV9	HPS6_HUMAN	Y	763	ENSP00000299238:D763Y	ENSP00000299238:D763Y	D	+	1	0	HPS6	103817508	1.000000	0.71417	0.512000	0.27736	0.005000	0.04900	3.491000	0.53252	1.333000	0.45449	-0.137000	0.14449	GAC		0.607	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2		NM_024747	
ITSN2	50618	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	24535240	24535240	+	Silent	SNP	A	A	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr2:24535240A>G	ENST00000355123.4	-	5	636	c.193T>C	c.(193-195)Tta>Cta	p.L65L	ITSN2_ENST00000406921.3_Silent_p.L65L|ITSN2_ENST00000407704.1_5'UTR|ITSN2_ENST00000361999.3_Silent_p.L65L	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	65	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.L65L(1)|p.L64L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGTCTGATAAAGCCCTAAAA	0.423																																																	2	Substitution - coding silent(2)	kidney(2)											174.0	145.0	155.0					2																	24535240		2203	4300	6503	SO:0001819	synonymous_variant	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.193T>C	2.37:g.24535240A>G			O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	ENST00000355123.4	37	CCDS1710.2																																																																																				0.423	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2		NM_006277	
KHK	3795	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27320383	27320383	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr2:27320383T>C	ENST00000260599.6	+	5	943	c.430T>C	c.(430-432)Tcg>Ccg	p.S144P	KHK_ENST00000260598.5_Missense_Mutation_p.S144P|KHK_ENST00000490823.1_3'UTR	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	144					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)	p.S144P(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGGAACGCATCGGAGCAGGT	0.622																																																	2	Substitution - Missense(2)	kidney(2)											59.0	53.0	55.0					2																	27320383		2203	4300	6503	SO:0001583	missense	3795				CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.430T>C	2.37:g.27320383T>C	ENSP00000260599:p.Ser144Pro		Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Missense_Mutation	SNP	ENST00000260599.6	37	CCDS1734.1	.	.	.	.	.	.	.	.	.	.	T	8.897	0.955415	0.18507	.	.	ENSG00000138030	ENST00000260599;ENST00000260598;ENST00000429697	T;T;T	0.78707	-1.2;-1.2;-0.06	5.93	1.9	0.25705	Carbohydrate/purine kinase (1);	0.395065	0.27068	N	0.021082	T	0.67627	0.2913	L	0.40543	1.245	0.09310	N	0.999993	B;B;P;B	0.38280	0.005;0.186;0.625;0.186	B;B;B;B	0.36885	0.009;0.235;0.137;0.235	T	0.58109	-0.7694	10	0.39692	T	0.17	-17.2928	12.5392	0.56158	0.0:0.0:0.5705:0.4295	.	144;144;144;144	Q53G56;Q6IBK2;P50053-2;P50053	.;.;.;KHK_HUMAN	P	144;144;189	ENSP00000260599:S144P;ENSP00000260598:S144P;ENSP00000404741:S189P	ENSP00000260598:S144P	S	+	1	0	KHK	27173887	0.633000	0.27181	0.004000	0.12327	0.046000	0.14306	2.695000	0.47043	0.447000	0.26695	-0.313000	0.08912	TCG		0.622	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214196.1			
CAMSAP3	57662	hgsc.bcm.edu	37	19	7675454	7675455	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr19:7675454_7675455insG	ENST00000160298.4	+	6	954_955	c.853_854insG	c.(853-855)tgcfs	p.C285fs	CAMSAP3_ENST00000446248.2_Frame_Shift_Ins_p.C312fs	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	285	CH.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						TCCTCGTGGCTGCCCCCTGTCC	0.649																																																	0																																										SO:0001589	frameshift_variant	0			AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.854dupG	19.37:g.7675455_7675455dupG	ENSP00000160298:p.Cys285fs		Q8NDF1	Frame_Shift_Ins	INS	ENST00000160298.4	37	CCDS42489.1																																																																																				0.649	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1		XM_048362	
LACTB	114294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	63419762	63419762	+	Silent	SNP	C	C	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr15:63419762C>A	ENST00000261893.4	+	4	898	c.826C>A	c.(826-828)Cgg>Agg	p.R276R	LACTB_ENST00000413507.2_Silent_p.R276R|RPS27L_ENST00000559763.1_Intron	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	276						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)	p.R276R(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						AGCCAAATGCCGGAATTCAAA	0.303																																					Melanoma(85;443 1381 6215 27308 35583)												1	Substitution - coding silent(1)	kidney(1)											39.0	43.0	42.0					15																	63419762		2197	4298	6495	SO:0001819	synonymous_variant	114294			AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"""Mitochondrial ribosomal proteins / large subunits"""	16468	protein-coding gene	gene with protein product		608440	"""mitochondrial ribosomal protein L56"""	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.826C>A	15.37:g.63419762C>A			P83096	Silent	SNP	ENST00000261893.4	37	CCDS10182.1																																																																																				0.303	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1		NM_032857	
LAMC3	10319	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	133914405	133914405	+	Silent	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr9:133914405G>A	ENST00000361069.4	+	5	1264	c.1131G>A	c.(1129-1131)cgG>cgA	p.R377R	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	377	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.R377R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GGGACCCGCGGATGCCATGCC	0.647																																																	1	Substitution - coding silent(1)	kidney(1)											41.0	43.0	42.0					9																	133914405		2203	4300	6503	SO:0001819	synonymous_variant	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1131G>A	9.37:g.133914405G>A			B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	CCDS6938.1																																																																																				0.647	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3		NM_006059	
LARP1	23367	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	154191178	154191185	+	Frame_Shift_Del	DEL	GTCTTGAA	GTCTTGAA	-			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	GTCTTGAA	GTCTTGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr5:154191178_154191185delGTCTTGAA	ENST00000336314.4	+	18	2852_2859	c.2828_2835delGTCTTGAA	c.(2827-2835)cgtcttgaafs	p.RLE943fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	1020					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)			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)			AAATTCCGACGTCTTGAAGACTTCCGAG	0.447											OREG0016971	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001589	frameshift_variant	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.2828_2835delGTCTTGAA	5.37:g.154191178_154191185delGTCTTGAA	ENSP00000336721:p.Arg943fs	1761	O94836|Q8N4M2|Q8NB73|Q9UFD7	Frame_Shift_Del	DEL	ENST00000336314.4	37	CCDS4328.1																																																																																				0.447	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1		NM_033551	
LMBR1L	55716	broad.mit.edu	37	12	49496928	49496928	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr12:49496928A>G	ENST00000267102.8	-	7	919	c.577T>C	c.(577-579)Tat>Cat	p.Y193H	LMBR1L_ENST00000395141.4_Missense_Mutation_p.Y188H|LMBR1L_ENST00000553204.1_5'Flank|LMBR1L_ENST00000547382.1_Missense_Mutation_p.Y193H	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	193					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y193H(1)|p.Y188H(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TAGGGGAGATAGTACTCCCAA	0.527																																																	2	Substitution - Missense(2)	kidney(2)											79.0	75.0	76.0					12																	49496928		2203	4300	6503	SO:0001583	missense	55716			AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"""limb region 1 homolog (mouse)-like"""			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.577T>C	12.37:g.49496928A>G	ENSP00000267102:p.Tyr193His		Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Missense_Mutation	SNP	ENST00000267102.8	37	CCDS8780.2	.	.	.	.	.	.	.	.	.	.	A	23.5	4.428743	0.83667	.	.	ENSG00000139636	ENST00000267102;ENST00000547382;ENST00000395141	T;T;T	0.33438	1.41;1.41;1.41	6.06	6.06	0.98353	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.51058	0.1652	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.994;0.998;0.996;0.999;0.998	T	0.38564	-0.9655	10	0.25106	T	0.35	.	15.5919	0.76537	1.0:0.0:0.0:0.0	.	191;193;193;193;188	Q6UX01-2;Q6UX01-5;Q6UX01-3;Q6UX01;Q6UX01-4	.;.;.;LMBRL_HUMAN;.	H	193;193;188	ENSP00000267102:Y193H;ENSP00000447329:Y193H;ENSP00000378573:Y188H	ENSP00000267102:Y193H	Y	-	1	0	LMBR1L	47783195	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.090000	0.94144	2.324000	0.78689	0.533000	0.62120	TAT		0.527	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318696.1		NM_018113	
LOC645166	645166	broad.mit.edu	37	1	148933289	148933289	+	lincRNA	SNP	A	A	G	rs9729175	byFrequency	TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr1:148933289A>G	ENST00000539543.1	+	0	176					NR_027355.2																						TGCTGCCCGCAGGATATTGTG	0.562													.|||	630	0.125799	0.112	0.1282	5008	,	,		27649	0.1796		0.0656	False		,,,				2504	0.1493																0																																												645166																															1.37:g.148933289A>G				Splice_Site	SNP	ENST00000539543.1	37																																																																																					0.562	RP11-14N7.2-201	KNOWN	basic	lincRNA	lincRNA				
LPCAT3	10162	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	7086391	7086391	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr12:7086391A>T	ENST00000261407.4	-	12	1466	c.1381T>A	c.(1381-1383)Ttc>Atc	p.F461I	U47924.30_ENST00000606112.1_lincRNA|LPCAT3_ENST00000535021.1_5'UTR	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	461					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)	p.F461I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						CTCAGGAAGAAGATGTGGCCA	0.433																																																	1	Substitution - Missense(1)	kidney(1)											91.0	92.0	92.0					12																	7086391		2203	4300	6503	SO:0001583	missense	10162			U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"""O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5"""	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.1381T>A	12.37:g.7086391A>T	ENSP00000261407:p.Phe461Ile		B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	37	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.264168	0.59431	.	.	ENSG00000111684	ENST00000261407	T	0.69806	-0.43	4.77	3.59	0.41128	.	0.105263	0.64402	D	0.000003	T	0.38081	0.1027	N	0.05078	-0.115	0.54753	D	0.999986	P	0.35077	0.483	B	0.30943	0.122	T	0.26258	-1.0108	10	0.07990	T	0.79	-11.4778	11.4817	0.50328	0.8493:0.1507:0.0:0.0	.	461	Q6P1A2	MBOA5_HUMAN	I	461	ENSP00000261407:F461I	ENSP00000261407:F461I	F	-	1	0	LPCAT3	6956652	0.994000	0.37717	1.000000	0.80357	0.932000	0.56968	1.453000	0.35167	0.822000	0.34565	0.459000	0.35465	TTC		0.433	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1		NM_005768	
LRRC8B	23507	broad.mit.edu;ucsc.edu	37	1	90048980	90048980	+	Silent	SNP	A	A	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr1:90048980A>G	ENST00000330947.2	+	5	1131	c.771A>G	c.(769-771)gtA>gtG	p.V257V	LRRC8B_ENST00000439853.1_Silent_p.V257V|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Silent_p.V257V	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	257					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V257V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TTTATAGAGTATATCTGAAAC	0.383																																																	1	Substitution - coding silent(1)	kidney(1)											96.0	94.0	95.0					1																	90048980		2203	4300	6503	SO:0001819	synonymous_variant	23507			AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.771A>G	1.37:g.90048980A>G			D3DT28|Q6UY21|Q8N106|Q92627	Silent	SNP	ENST00000330947.2	37	CCDS724.1																																																																																				0.383	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1		NM_015350	
LRRIQ4	344657	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	169555371	169555371	+	Silent	SNP	A	A	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr3:169555371A>G	ENST00000340806.6	+	5	1635	c.1635A>G	c.(1633-1635)aaA>aaG	p.K545K		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	545								p.K545K(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AAGATAAGAAAGGAAAGAAGG	0.373																																																	1	Substitution - coding silent(1)	kidney(1)											51.0	47.0	48.0					3																	169555371		1816	4083	5899	SO:0001819	synonymous_variant	344657				CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.1635A>G	3.37:g.169555371A>G				Silent	SNP	ENST00000340806.6	37	CCDS46951.1																																																																																				0.373	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1		NM_001080460	
MAML1	9794	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	179193308	179193308	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr5:179193308A>T	ENST00000292599.3	+	2	1560	c.1297A>T	c.(1297-1299)Acg>Tcg	p.T433S	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)									p.T470S(1)|p.T433S(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGGCAGCAGACGGGGCCCTC	0.607																																																	2	Substitution - Missense(2)	kidney(2)											75.0	88.0	84.0					5																	179193308		2203	4300	6503	SO:0001583	missense	9794			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1297A>T	5.37:g.179193308A>T	ENSP00000292599:p.Thr433Ser			Missense_Mutation	SNP	ENST00000292599.3	37	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	A	6.826	0.521590	0.13005	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.21734	1.99	4.89	-3.24	0.05094	.	0.426911	0.23960	N	0.042874	T	0.03011	0.0089	N	0.00583	-1.355	0.24401	N	0.994706	B;B	0.15141	0.012;0.001	B;B	0.12837	0.008;0.001	T	0.38373	-0.9664	10	0.05351	T	0.99	-0.8574	2.9265	0.05786	0.1951:0.1025:0.4481:0.2543	.	470;433	Q59GH4;Q92585	.;MAML1_HUMAN	S	433;470	ENSP00000292599:T433S	ENSP00000292599:T433S	T	+	1	0	MAML1	179125914	0.227000	0.23707	0.978000	0.43139	0.692000	0.40212	0.064000	0.14437	-0.133000	0.11537	0.260000	0.18958	ACG		0.607	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2		NM_014757	
MAP1S	55201	broad.mit.edu	37	19	17838751	17838751	+	Missense_Mutation	SNP	C	C	A	rs138807804		TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr19:17838751C>A	ENST00000324096.4	+	5	2709	c.2558C>A	c.(2557-2559)gCa>gAa	p.A853E	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Missense_Mutation_p.A827E|MAP1S_ENST00000597681.1_3'UTR	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	853	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.A853E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CCCAAGACAGCACGGCAAACG	0.677																																																	1	Substitution - Missense(1)	kidney(1)											22.0	21.0	22.0					19																	17838751		2203	4300	6503	SO:0001583	missense	55201			BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2558C>A	19.37:g.17838751C>A	ENSP00000325313:p.Ala853Glu		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.679944	0.29783	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.24151	1.87;1.87	4.67	2.1	0.27182	.	0.742942	0.11422	N	0.565673	T	0.17238	0.0414	N	0.25647	0.755	0.09310	N	1	P;P	0.42518	0.782;0.782	B;B	0.43701	0.428;0.117	T	0.03335	-1.1047	10	0.05525	T	0.97	-6.0916	9.6911	0.40129	0.0:0.7881:0.0:0.2119	.	827;853	B4DH53;Q66K74	.;MAP1S_HUMAN	E	853;827	ENSP00000325313:A853E;ENSP00000439243:A827E	ENSP00000325313:A853E	A	+	2	0	MAP1S	17699751	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.987000	0.29603	0.949000	0.37715	-0.150000	0.13652	GCA		0.677	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1		NM_018174	
MFAP3L	9848	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	170913100	170913100	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr4:170913100G>T	ENST00000361618.3	-	3	966	c.659C>A	c.(658-660)gCc>gAc	p.A220D	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.A117D	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A220D(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		GGTGACTTTGGCAAGCTCTAG	0.527																																																	1	Substitution - Missense(1)	kidney(1)											95.0	103.0	100.0					4																	170913100		2203	4300	6503	SO:0001583	missense	9848			AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"""Immunoglobulin superfamily / I-set domain containing"""	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.659C>A	4.37:g.170913100G>T	ENSP00000354583:p.Ala220Asp		A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Missense_Mutation	SNP	ENST00000361618.3	37	CCDS34103.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.441727	0.83993	.	.	ENSG00000198948	ENST00000393704;ENST00000361618;ENST00000512698	D;D;D	0.99232	-5.6;-2.78;-5.24	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.99281	0.9749	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99850	1.1070	10	0.87932	D	0	-23.5052	19.1622	0.93537	0.0:0.0:1.0:0.0	.	220	O75121	MFA3L_HUMAN	D	117;220;117	ENSP00000377307:A117D;ENSP00000354583:A220D;ENSP00000422791:A117D	ENSP00000354583:A220D	A	-	2	0	MFAP3L	171149675	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	9.869000	0.99810	2.522000	0.85027	0.555000	0.69702	GCC		0.527	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2		NM_021647	
KMT2A	4297	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118352713	118352713	+	Silent	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr11:118352713G>A	ENST00000389506.5	+	7	3918	c.3918G>A	c.(3916-3918)ccG>ccA	p.P1306P	KMT2A_ENST00000534358.1_Silent_p.P1306P|KMT2A_ENST00000354520.4_Silent_p.P1306P|KMT2A_ENST00000420751.2_3'UTR			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1306					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.P1306P(2)									TGGTCATCCCGCCTCAGCCAC	0.562																																																	2	Substitution - coding silent(2)	kidney(2)											48.0	49.0	49.0					11																	118352713		2200	4296	6496	SO:0001819	synonymous_variant	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.3918G>A	11.37:g.118352713G>A			E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	CCDS31686.1																																																																																				0.562	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2		NM_005933	
MLXIPL	51085	broad.mit.edu	37	7	73011708	73011708	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr7:73011708delG	ENST00000313375.3	-	9	1454	c.1407delC	c.(1405-1407)cccfs	p.P469fs	MLXIPL_ENST00000354613.1_Frame_Shift_Del_p.P469fs|MLXIPL_ENST00000434326.1_Frame_Shift_Del_p.P376fs|MLXIPL_ENST00000395189.1_Frame_Shift_Del_p.P376fs|MLXIPL_ENST00000414749.2_Frame_Shift_Del_p.P469fs|MLXIPL_ENST00000429400.2_Frame_Shift_Del_p.P469fs	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	469					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTATGGGGAAGGGGGTGGGGG	0.677																																																	0													2.0	3.0	3.0					7																	73011708		1738	3511	5249	SO:0001589	frameshift_variant	51085			AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.1407delC	7.37:g.73011708delG	ENSP00000320886:p.Pro469fs		C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Frame_Shift_Del	DEL	ENST00000313375.3	37	CCDS5553.1																																																																																				0.677	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1		NM_032951	
MMP11	4320	hgsc.bcm.edu;ucsc.edu	37	22	24121517	24121517	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr22:24121517delC	ENST00000215743.3	+	2	304	c.252delC	c.(250-252)gacfs	p.D84fs	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	84					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	GCGTGCCCGACCCATCTGATG	0.697																																																	0													20.0	21.0	21.0					22																	24121517		2203	4300	6503	SO:0001589	frameshift_variant	4320				CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"""matrix metalloproteinase 11 (stromelysin 3)"""	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.252delC	22.37:g.24121517delC	ENSP00000215743:p.Asp84fs		Q5FX24|Q6PEZ6|Q9UC26	Frame_Shift_Del	DEL	ENST00000215743.3	37	CCDS13816.1																																																																																				0.697	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2		NM_005940	
MSL1	339287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	38285875	38285875	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr17:38285875T>A	ENST00000398532.4	+	3	1685	c.1370T>A	c.(1369-1371)gTa>gAa	p.V457E	MSL1_ENST00000579565.1_Missense_Mutation_p.V194E|MSL1_ENST00000577454.1_Missense_Mutation_p.V457E|MSL1_ENST00000578648.1_Missense_Mutation_p.V457E	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	457					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.V256E(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						GAGGAGACTGTAGCAAGTAAG	0.463																																																	1	Substitution - Missense(1)	kidney(1)											17.0	17.0	17.0					17																	38285875		1910	4119	6029	SO:0001583	missense	339287				CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895			27905	protein-coding gene	gene with protein product		614801				16227571, 16543150	Standard	NM_001012241		Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.1370T>A	17.37:g.38285875T>A	ENSP00000381543:p.Val457Glu		Q0VF46|Q69Z03	Missense_Mutation	SNP	ENST00000398532.4	37		.	.	.	.	.	.	.	.	.	.	T	10.85	1.466345	0.26335	.	.	ENSG00000188895	ENST00000339569;ENST00000398532	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.73697	0.3620	L	0.43923	1.385	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.75921	-0.3147	9	0.87932	D	0	-3.6199	16.2619	0.82550	0.0:0.0:0.0:1.0	.	457	Q68DK7	MSL1_HUMAN	E	194;457	.	ENSP00000341409:V194E	V	+	2	0	MSL1	35539401	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.317000	0.78254	0.460000	0.39030	GTA		0.463	MSL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000447409.2		NM_001012241	
MUC6	4588	broad.mit.edu;hgsc.bcm.edu	37	11	1017614	1017614	+	Silent	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr11:1017614G>A	ENST00000421673.2	-	31	5237	c.5187C>T	c.(5185-5187)acC>acT	p.T1729T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1729	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.T1729T(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCCCACTGGTGGTCACTGTCA	0.537																																																	2	Substitution - coding silent(2)	kidney(2)											426.0	437.0	433.0					11																	1017614		2178	4264	6442	SO:0001819	synonymous_variant	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5187C>T	11.37:g.1017614G>A			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.537	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2		XM_290540	
MYBPC1	4604	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	102067221	102067221	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr12:102067221A>T	ENST00000550270.1	+	24	2609	c.2609A>T	c.(2608-2610)gAa>gTa	p.E870V	MYBPC1_ENST00000545503.2_Missense_Mutation_p.E852V|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E833V|MYBPC1_ENST00000551300.1_Missense_Mutation_p.E753V|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E870V|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E877V|MYBPC1_ENST00000547405.1_Missense_Mutation_p.E826V|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E877V|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E852V|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E840V|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E839V|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E838V|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E870V|MYBPC1_ENST00000549145.1_Missense_Mutation_p.E883V|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E870V			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	870	Ig-like C2-type 6.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.E870V(1)|p.E877V(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CCAAGACCAGAATTAACTTGG	0.358																																																	2	Substitution - Missense(2)	kidney(2)											107.0	113.0	111.0					12																	102067221		2203	4300	6503	SO:0001583	missense	4604				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2609A>T	12.37:g.102067221A>T	ENSP00000449702:p.Glu870Val		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.312513	0.40895	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.75	5.75	0.90469	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.123330	0.36234	N	0.002711	T	0.54838	0.1883	N	0.02665	-0.54	0.48087	D	0.99958	B;P;B;B;B;B;P;P;B;B	0.39044	0.018;0.656;0.001;0.008;0.325;0.014;0.454;0.65;0.002;0.007	B;P;B;B;B;B;P;P;B;B	0.51550	0.039;0.609;0.012;0.02;0.342;0.032;0.474;0.673;0.007;0.026	T	0.60337	-0.7283	10	0.20519	T	0.43	.	16.0506	0.80760	1.0:0.0:0.0:0.0	.	833;840;870;852;839;826;852;870;877;877	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	V	826;870;870;870;839;838;877;883;852;852;833;840;877;753;870	ENSP00000448175:E826V;ENSP00000400908:E870V;ENSP00000388989:E870V;ENSP00000353822:E870V;ENSP00000376665:E839V;ENSP00000447362:E838V;ENSP00000354845:E877V;ENSP00000447660:E883V;ENSP00000447900:E852V;ENSP00000440034:E852V;ENSP00000446128:E833V;ENSP00000442847:E840V;ENSP00000354849:E877V;ENSP00000447116:E753V;ENSP00000449702:E870V	ENSP00000353822:E870V	E	+	2	0	MYBPC1	100591352	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.065000	0.76727	2.189000	0.69895	0.454000	0.30748	GAA		0.358	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			
MYCBP	26292	broad.mit.edu	37	1	39338699	39338700	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr1:39338699_39338700delGC	ENST00000397572.2	-	2	877_878	c.78_79delGC	c.(76-81)acgctgfs	p.L27fs	RP5-864K19.4_ENST00000433671.2_RNA|RP5-864K19.4_ENST00000456813.1_RNA|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000454994.2_3'UTR	NM_012333.4	NP_036465.2	Q99417	MYCBP_HUMAN	MYC binding protein	27					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(1)|skin(1)	3	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)				CCCTTGGTCAGCGTGTCCAGCA	0.688																																					Esophageal Squamous(155;912 1855 21572 25911 44247)												0																																										SO:0001589	frameshift_variant	26292			AB007191	CCDS431.1	1p33-p32.2	2013-07-09	2013-07-09		ENSG00000214114	ENSG00000214114			7554	protein-coding gene	gene with protein product	"""associate of myc-1"""	606535	"""c-myc binding protein"""			9797456	Standard	NM_012333		Approved	AMY-1	uc001ccs.3	Q99417	OTTHUMG00000000484	ENST00000397572.2:c.78_79delGC	1.37:g.39338699_39338700delGC	ENSP00000380702:p.Leu27fs		B2R4N0|Q5TA64|Q96HE2	Frame_Shift_Del	DEL	ENST00000397572.2	37	CCDS431.1																																																																																				0.688	MYCBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001209.1		NM_012333	
MYO5C	55930	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	52521378	52521378	+	Silent	SNP	A	A	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr15:52521378A>T	ENST00000261839.7	-	25	3320	c.3159T>A	c.(3157-3159)acT>acA	p.T1053T		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1053						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.T1053T(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		AGCCATCAGAAGTGACGTGCT	0.517																																																	1	Substitution - coding silent(1)	kidney(1)											131.0	130.0	131.0					15																	52521378		1933	4121	6054	SO:0001819	synonymous_variant	55930			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.3159T>A	15.37:g.52521378A>T			Q6P1W8	Silent	SNP	ENST00000261839.7	37	CCDS42036.1																																																																																				0.517	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1		NM_018728	
NCAPH	23397	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	97024901	97024901	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr2:97024901G>C	ENST00000240423.4	+	10	1370	c.1327G>C	c.(1327-1329)Gat>Cat	p.D443H	NCAPH_ENST00000427946.1_Missense_Mutation_p.D307H|NCAPH_ENST00000455200.1_Missense_Mutation_p.D432H	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	443					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.D443H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GGCTGGCCCGGATCACTGGCG	0.488																																																	1	Substitution - Missense(1)	kidney(1)											117.0	113.0	114.0					2																	97024901		2203	4300	6503	SO:0001583	missense	23397			BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.1327G>C	2.37:g.97024901G>C	ENSP00000240423:p.Asp443His		B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705050	0.88924	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.85	5.85	0.93711	.	0.145914	0.64402	D	0.000009	T	0.67021	0.2849	M	0.72118	2.19	0.50313	D	0.999861	D;D;D;D	0.64830	0.989;0.989;0.96;0.994	D;P;D;P	0.62955	0.909;0.908;0.909;0.908	T	0.67628	-0.5622	10	0.59425	D	0.04	-12.24	17.6572	0.88181	0.0:0.0:1.0:0.0	.	419;432;432;443	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	H	443;307;432;432	ENSP00000240423:D443H;ENSP00000400774:D307H;ENSP00000405237:D432H;ENSP00000407308:D432H	ENSP00000240423:D443H	D	+	1	0	NCAPH	96388628	1.000000	0.71417	0.977000	0.42913	0.929000	0.56500	9.028000	0.93712	2.773000	0.95371	0.655000	0.94253	GAT		0.488	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2		NM_015341	
NCOA2	10499	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	71050557	71050557	+	Silent	SNP	T	T	C	rs377408628		TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr8:71050557T>C	ENST00000452400.2	-	15	3220	c.3039A>G	c.(3037-3039)gaA>gaG	p.E1013E	NCOA2_ENST00000267974.4_Silent_p.E101E	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1013					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)	p.E1013E(1)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TCATCTCTAATTCAGATGGCC	0.418			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																			Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	1	Substitution - coding silent(1)	kidney(1)											82.0	77.0	79.0					8																	71050557		1825	4082	5907	SO:0001819	synonymous_variant	10499			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.3039A>G	8.37:g.71050557T>C			Q14CD2	Silent	SNP	ENST00000452400.2	37	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	T	8.666	0.901604	0.17760	.	.	ENSG00000140396	ENST00000518363	.	.	.	5.88	0.389	0.16269	.	.	.	.	.	T	0.57844	0.2081	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51973	-0.8637	4	.	.	.	.	10.0974	0.42484	0.0:0.4051:0.0:0.5949	.	.	.	.	S	114	.	.	N	-	2	0	NCOA2	71213111	0.980000	0.34600	0.990000	0.47175	0.988000	0.76386	0.764000	0.26532	0.048000	0.15891	0.533000	0.62120	AAT		0.418	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			
NFIX	4784	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	13192531	13192531	+	Silent	SNP	C	C	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr19:13192531C>T	ENST00000592199.1	+	8	1116	c.1116C>T	c.(1114-1116)ccC>ccT	p.P372P	NFIX_ENST00000585575.1_Silent_p.P364P|NFIX_ENST00000358552.3_Silent_p.P330P|NFIX_ENST00000588228.1_Silent_p.P325P|NFIX_ENST00000397661.2_Silent_p.P372P|NFIX_ENST00000360105.4_Silent_p.P334P|NFIX_ENST00000587260.1_Silent_p.P371P|NFIX_ENST00000587760.1_Silent_p.P364P			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	372					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P372P(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			TGCACTTCCCCTCCACGTCCA	0.637																																																	2	Substitution - coding silent(2)	kidney(2)											57.0	67.0	64.0					19																	13192531		2154	4242	6396	SO:0001819	synonymous_variant	4784			U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.1116C>T	19.37:g.13192531C>T			B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Silent	SNP	ENST00000592199.1	37																																																																																					0.637	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1		NM_002501	
NID2	22795	broad.mit.edu;hgsc.bcm.edu	37	14	52534720	52534720	+	Silent	SNP	G	G	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr14:52534720G>C	ENST00000216286.5	-	2	389	c.390C>G	c.(388-390)ccC>ccG	p.P130P	NID2_ENST00000541773.1_Silent_p.P77P	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	130	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)	p.P130P(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CCAGCACTGCGGGGGAGGTGT	0.682																																																	1	Substitution - coding silent(1)	kidney(1)											28.0	33.0	31.0					14																	52534720		2202	4300	6502	SO:0001819	synonymous_variant	22795			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.390C>G	14.37:g.52534720G>C			A8K6I7|B4DU19|O43710	Silent	SNP	ENST00000216286.5	37	CCDS9706.1																																																																																				0.682	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			
NKX2-2	4821	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	21494259	21494259	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr20:21494259C>G	ENST00000377142.4	-	1	405	c.49G>C	c.(49-51)Gac>Cac	p.D17H	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	17					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.D17H(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TCCGGCAGGTCTAAGATGTCC	0.577																																																	1	Substitution - Missense(1)	kidney(1)											62.0	62.0	62.0					20																	21494259		2203	4300	6503	SO:0001583	missense	4821			AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.49G>C	20.37:g.21494259C>G	ENSP00000366347:p.Asp17His			Missense_Mutation	SNP	ENST00000377142.4	37	CCDS13145.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810574	0.70797	.	.	ENSG00000125820	ENST00000377142	D	0.91740	-2.9	4.75	3.79	0.43588	.	0.296749	0.37393	N	0.002111	D	0.93969	0.8069	L	0.55481	1.735	0.58432	D	0.999994	D	0.76494	0.999	D	0.64042	0.921	D	0.93779	0.7082	10	0.56958	D	0.05	.	14.481	0.67582	0.0:0.8517:0.1483:0.0	.	17	O95096	NKX22_HUMAN	H	17	ENSP00000366347:D17H	ENSP00000366347:D17H	D	-	1	0	NKX2-2	21442259	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.687000	0.68219	0.969000	0.38237	0.563000	0.77884	GAC		0.577	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			
NOXA1	10811	broad.mit.edu	37	9	140323753	140323754	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr9:140323753_140323754insG	ENST00000341349.2	+	5	710_711	c.530_531insG	c.(529-534)caggtcfs	p.V178fs	NOXA1_ENST00000392815.2_Intron	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	178	Mediates interaction with RAC1.				positive regulation of catalytic activity (GO:0043085)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|Rac GTPase binding (GO:0048365)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activator activity (GO:0016176)	p.V178fs*54(1)		cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		CCGCCACGGCAGGTCCCCAGGG	0.678																																																	1	Insertion - Frameshift(1)	upper_aerodigestive_tract(1)																																								SO:0001589	frameshift_variant	10811			AF039697	CCDS7042.1, CCDS59157.1	9q34.3	2013-09-20	2002-12-09	2002-12-13	ENSG00000188747	ENSG00000188747			10668	protein-coding gene	gene with protein product		611255	"""serologically defined colon cancer antigen 31"""	SDCCAG31		9610721	Standard	NM_001256067		Approved	NY-CO-31, FLJ25475	uc004cmu.3	Q86UR1	OTTHUMG00000131781	ENST00000341349.2:c.532dupG	9.37:g.140323755_140323755dupG	ENSP00000342848:p.Val178fs		O60533|Q29VU9|Q29VV0|Q2TAM1|Q8IUS3	Frame_Shift_Ins	INS	ENST00000341349.2	37	CCDS7042.1																																																																																				0.678	NOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254713.1			
NPNT	255743	broad.mit.edu;ucsc.edu	37	4	106861265	106861265	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr4:106861265G>T	ENST00000379987.2	+	6	755	c.539G>T	c.(538-540)tGc>tTc	p.C180F	NPNT_ENST00000453617.2_Missense_Mutation_p.C197F|NPNT_ENST00000305572.8_Missense_Mutation_p.C180F|NPNT_ENST00000427316.2_Missense_Mutation_p.C210F|NPNT_ENST00000514622.1_Missense_Mutation_p.C180F|NPNT_ENST00000506666.1_Missense_Mutation_p.C210F	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	180	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.C180F(1)		kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AGAGCCTCCTGCCCTAGATTT	0.398																																																	1	Substitution - Missense(1)	kidney(1)											167.0	143.0	151.0					4																	106861265		2203	4300	6503	SO:0001583	missense	255743				CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.539G>T	4.37:g.106861265G>T	ENSP00000369323:p.Cys180Phe		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	ENST00000379987.2	37	CCDS34046.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177879	0.57692	.	.	ENSG00000168743	ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451	D;D;D;D;D;D;D	0.99445	-5.14;-5.14;-5.91;-5.14;-5.14;-5.91;-5.91	5.44	5.44	0.79542	EGF-like calcium-binding, conserved site (1);Epidermal growth factor-like (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99677	0.9879	M	0.93808	3.46	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;0.999;0.999	D	0.97698	1.0183	10	0.87932	D	0	.	19.2495	0.93917	0.0:0.0:1.0:0.0	.	180;210;210;197;227;180;180	E9PF04;E9PE64;E9PCQ1;E9PCK8;D6RH31;Q6UXI9-2;Q6UXI9	.;.;.;.;.;.;NPNT_HUMAN	F	180;197;210;180;180;210;227	ENSP00000369323:C180F;ENSP00000402884:C197F;ENSP00000389252:C210F;ENSP00000422044:C180F;ENSP00000302557:C180F;ENSP00000422474:C210F;ENSP00000426146:C227F	ENSP00000302557:C180F	C	+	2	0	NPNT	107080714	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	9.357000	0.97099	2.553000	0.86117	0.655000	0.94253	TGC		0.398	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1		NM_198278	
NXPH3	11248	hgsc.bcm.edu;ucsc.edu	37	17	47656509	47656509	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr17:47656509delC	ENST00000328741.5	+	2	968	c.606delC	c.(604-606)gacfs	p.D202fs	NXPH3_ENST00000513748.1_Frame_Shift_Del_p.D202fs|RP5-1029K10.4_ENST00000503624.1_RNA	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	202	V (Cys-rich).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					GCTCCCGAGACCACGCTCAGA	0.602																																																	0													81.0	79.0	80.0					17																	47656509		2203	4300	6503	SO:0001589	frameshift_variant	11248			AF043468	CCDS11550.1	17q	2008-07-03				ENSG00000182575			8077	protein-coding gene	gene with protein product		604636				9570794	Standard	NM_007225		Approved	NPH3	uc002ipa.3	O95157		ENST00000328741.5:c.606delC	17.37:g.47656509delC	ENSP00000329295:p.Asp202fs		Q8NDC3|Q8TBF6|Q9ULR1	Frame_Shift_Del	DEL	ENST00000328741.5	37	CCDS11550.1																																																																																				0.602	NXPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365143.1			
OBSCN	84033	hgsc.bcm.edu	37	1	228505318	228505318	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr1:228505318G>T	ENST00000422127.1	+	52	13759	c.13715G>T	c.(13714-13716)tGc>tTc	p.C4572F	OBSCN_ENST00000366709.4_Missense_Mutation_p.C1691F|OBSCN_ENST00000570156.2_Missense_Mutation_p.C5529F|OBSCN_ENST00000284548.11_Missense_Mutation_p.C4572F|OBSCN_ENST00000366707.4_Missense_Mutation_p.C2206F	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4572	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGCGGCTGTGCCACGAGCTG	0.682																																																	0													24.0	30.0	28.0					1																	228505318		2098	4210	6308	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.13715G>T	1.37:g.228505318G>T	ENSP00000409493:p.Cys4572Phe		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	g	22.9	4.345606	0.82022	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	4.51	4.51	0.55191	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.066826	0.64402	D	0.000015	T	0.72011	0.3408	M	0.70595	2.14	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.991	T	0.67929	-0.5543	10	0.09843	T	0.71	.	17.4347	0.87548	0.0:0.0:1.0:0.0	.	4572;4572	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	F	4572;4572;2206;1691	ENSP00000284548:C4572F;ENSP00000409493:C4572F;ENSP00000355668:C2206F;ENSP00000355670:C1691F	ENSP00000284548:C4572F	C	+	2	0	OBSCN	226571941	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.314000	0.78988	2.368000	0.80403	0.479000	0.44913	TGC		0.682	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_052843	
OBSCN	84033	broad.mit.edu;hgsc.bcm.edu	37	1	228559759	228559759	+	Silent	SNP	T	T	C	rs369928421		TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr1:228559759T>C	ENST00000422127.1	+	94	21324	c.21280T>C	c.(21280-21282)Ttg>Ctg	p.L7094L	OBSCN_ENST00000570156.2_Silent_p.L8051L|OBSCN_ENST00000366707.4_Silent_p.L4728L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7094	Pro-rich.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.L7676L(1)|p.L7806L(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AAGCCCCCCATTGGACTCTAA	0.632													T|||	1	0.000199681	0.0008	0.0	5008	,	,		14890	0.0		0.0	False		,,,				2504	0.0																2	Substitution - coding silent(2)	kidney(2)						T		0,3632		0,0,1816	21.0	23.0	22.0		21280	-0.7	0.0	1		22	2,8158		0,2,4078	no	coding-synonymous	OBSCN	NM_001098623.1		0,2,5894	CC,CT,TT		0.0245,0.0,0.017		7094/7969	228559759	2,11790	1816	4080	5896	SO:0001819	synonymous_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.21280T>C	1.37:g.228559759T>C			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	T	10.37	1.332683	0.24167	0.0	2.45E-4	ENSG00000154358	ENST00000441106	.	.	.	4.63	-0.701	0.11269	.	.	.	.	.	T	0.23806	0.0576	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28332	-1.0047	4	.	.	.	.	4.8224	0.13398	0.0:0.4943:0.1487:0.357	.	.	.	.	T	1710	.	.	I	+	2	0	OBSCN	226626382	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.934000	0.01552	-0.036000	0.13669	-0.253000	0.11424	ATT		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_052843	
OR1B1	347169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	125391234	125391234	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr9:125391234G>A	ENST00000304833.3	-	1	618	c.581C>T	c.(580-582)tCt>tTt	p.S194F	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S194F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GTCAGAACAAGAGGCTCGCAG	0.527																																																	1	Substitution - Missense(1)	kidney(1)											47.0	46.0	46.0					9																	125391234		2203	4300	6503	SO:0001583	missense	347169			AC006313	CCDS35126.1	9q33.2	2012-08-09			ENSG00000171484	ENSG00000171484		"""GPCR / Class A : Olfactory receptors"""	8181	protein-coding gene	gene with protein product							Standard	NM_001004450		Approved	OR9-B	uc011lyz.2	Q8NGR6	OTTHUMG00000020616	ENST00000304833.3:c.581C>T	9.37:g.125391234G>A	ENSP00000303151:p.Ser194Phe		Q6IFN3	Missense_Mutation	SNP	ENST00000304833.3	37	CCDS35126.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.888409	0.72524	.	.	ENSG00000171484	ENST00000304833	T	0.00299	8.22	4.63	4.63	0.57726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	D	0.000475	T	0.00815	0.0027	M	0.85945	2.785	0.34928	D	0.749083	D	0.89917	1.0	D	0.83275	0.996	T	0.63765	-0.6563	10	0.72032	D	0.01	-14.1575	16.7882	0.85579	0.0:0.0:1.0:0.0	.	194	Q8NGR6	OR1B1_HUMAN	F	194	ENSP00000303151:S194F	ENSP00000303151:S194F	S	-	2	0	OR1B1	124431055	0.062000	0.20869	0.941000	0.38009	0.914000	0.54420	2.348000	0.44045	2.549000	0.85964	0.650000	0.86243	TCT		0.527	OR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053947.2		NM_001004450	
OR51A2	401667	broad.mit.edu;hgsc.bcm.edu	37	11	4976107	4976107	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr11:4976107A>C	ENST00000380371.1	-	1	836	c.837T>G	c.(835-837)aaT>aaG	p.N279K	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N279K(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTAGGAGAACATTTGCCATGA	0.438																																																	1	Substitution - Missense(1)	kidney(1)											91.0	73.0	79.0					11																	4976107		2076	3808	5884	SO:0001583	missense	401667			AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"""GPCR / Class A : Olfactory receptors"""	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.837T>G	11.37:g.4976107A>C	ENSP00000369729:p.Asn279Lys			Missense_Mutation	SNP	ENST00000380371.1	37	CCDS31368.1	.	.	.	.	.	.	.	.	.	.	-	12.11	1.838187	0.32513	.	.	ENSG00000205496	ENST00000380371	T	0.37915	1.17	3.26	0.866	0.19079	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.44953	0.1318	M	0.88512	2.96	0.09310	N	1	P	0.37731	0.607	B	0.42692	0.395	T	0.47142	-0.9140	9	0.72032	D	0.01	.	3.0609	0.06199	0.4607:0.0:0.3451:0.1942	.	279	Q8NGJ7	O51A2_HUMAN	K	279	ENSP00000369729:N279K	ENSP00000369729:N279K	N	-	3	2	OR51A2	4932683	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.302000	0.02746	0.057000	0.16193	0.412000	0.27726	AAT		0.438	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1		NM_001004748	
Unknown	0	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	124095984	124095984	+	IGR	SNP	C	C	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr11:124095984C>T								OR10D3 (39032 upstream) : OR8G1 (24438 downstream)																							GATCTCTTCCCTCTCTTGGGG	0.428																																																	0													174.0	178.0	177.0					11																	124095984		1955	4174	6129	SO:0001628	intergenic_variant	26492																															11.37:g.124095984C>T				Missense_Mutation	SNP		37																																																																																				0	0.428									
OTUD4	54726	hgsc.bcm.edu	37	4	146076739	146076739	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr4:146076739delA	ENST00000447906.2	-	9	977	c.790delT	c.(790-792)tggfs	p.W264fs	OTUD4_ENST00000454497.2_Frame_Shift_Del_p.W199fs|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	264					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GACTTCAGCCAAATTTCATAT	0.348																																																	0													99.0	99.0	99.0					4																	146076739		2203	4300	6503	SO:0001589	frameshift_variant	54726				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.790delT	4.37:g.146076739delA	ENSP00000395487:p.Trp264fs		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Frame_Shift_Del	DEL	ENST00000447906.2	37																																																																																					0.348	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2		NM_017493	
OTUD6B	51633	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	92083453	92083453	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr8:92083453A>C	ENST00000285420.4	+	2	359	c.260A>C	c.(259-261)aAa>aCa	p.K87T	GS1-251I9.4_ENST00000522817.1_RNA|OTUD6B_ENST00000404789.3_5'UTR|GS1-251I9.4_ENST00000524003.1_RNA	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	57							cysteine-type peptidase activity (GO:0008234)	p.K87T(1)|p.K57T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			AAGTTGGAAAAAGAAATGGAA	0.413																																																	2	Substitution - Missense(2)	kidney(2)											136.0	131.0	133.0					8																	92083453		2203	4300	6503	SO:0001583	missense	51633				CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"""OTU domain containing"""	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.260A>C	8.37:g.92083453A>C	ENSP00000285420:p.Lys87Thr		A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Missense_Mutation	SNP	ENST00000285420.4	37	CCDS6253.2	.	.	.	.	.	.	.	.	.	.	A	5.527	0.282178	0.10458	.	.	ENSG00000155100	ENST00000285420	D	0.95588	-3.75	5.73	-0.134	0.13481	.	0.514651	0.22646	N	0.057397	D	0.84995	0.5596	N	0.02916	-0.46	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.71427	-0.4596	10	0.14656	T	0.56	-1.6563	13.2838	0.60230	0.1157:0.6023:0.282:0.0	.	57	Q8N6M0	OTU6B_HUMAN	T	87	ENSP00000285420:K87T	ENSP00000285420:K87T	K	+	2	0	OTUD6B	92152629	1.000000	0.71417	0.989000	0.46669	0.002000	0.02628	1.843000	0.39259	0.019000	0.15079	-0.466000	0.05196	AAA		0.413	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319968.1		NM_016023	
PACS2	23241	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	105843253	105843253	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr14:105843253C>G	ENST00000325438.8	+	9	1454	c.950C>G	c.(949-951)cCg>cGg	p.P317R	PACS2_ENST00000447393.1_Missense_Mutation_p.P317R|PACS2_ENST00000430725.2_Missense_Mutation_p.P242R|PACS2_ENST00000458164.2_Missense_Mutation_p.P317R|PACS2_ENST00000547217.1_Missense_Mutation_p.P287R			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	317					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)		p.P317R(1)		endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		ACCCCCAAGCCGAAGCTGCGG	0.662																																																	1	Substitution - Missense(1)	kidney(1)											49.0	49.0	49.0					14																	105843253		2202	4300	6502	SO:0001583	missense	23241			AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.950C>G	14.37:g.105843253C>G	ENSP00000321834:p.Pro317Arg		A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	37	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.011072	0.54361	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	4.8	3.91	0.45181	.	0.000000	0.85682	D	0.000000	T	0.42337	0.1198	M	0.81802	2.56	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.996	T	0.40942	-0.9536	10	0.87932	D	0	-16.708	11.6847	0.51479	0.0:0.912:0.0:0.088	.	317;317;317;318	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	R	242;317;317;317;287	ENSP00000393524:P242R;ENSP00000321834:P317R;ENSP00000399732:P317R;ENSP00000393559:P317R;ENSP00000449525:P287R	ENSP00000321834:P317R	P	+	2	0	PACS2	104914298	1.000000	0.71417	0.881000	0.34555	0.177000	0.22998	7.657000	0.83745	1.010000	0.39314	0.467000	0.42956	CCG		0.662	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1		XM_377355	
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52623262	52623262	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr3:52623262delT	ENST00000296302.7	-	18	2790	c.2789delA	c.(2788-2790)aagfs	p.K930fs	PBRM1_ENST00000410007.1_Frame_Shift_Del_p.K930fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.K898fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.K945fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.K930fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.K945fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.K930fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.K930fs			Q86U86	PB1_HUMAN	polybromo 1	930					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATCTTCACTCTTTTCAGCTTC	0.398			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	0													93.0	94.0	94.0					3																	52623262		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2789delA	3.37:g.52623262delT	ENSP00000296302:p.Lys930fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.398	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PBRM1	55193	hgsc.bcm.edu	37	3	52623267	52623267	+	Silent	SNP	A	A	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr3:52623267A>G	ENST00000296302.7	-	18	2785	c.2784T>C	c.(2782-2784)gcT>gcC	p.A928A	PBRM1_ENST00000410007.1_Silent_p.A928A|PBRM1_ENST00000356770.4_Silent_p.A896A|PBRM1_ENST00000409114.3_Silent_p.A943A|PBRM1_ENST00000394830.3_Silent_p.A928A|PBRM1_ENST00000409767.1_Silent_p.A943A|PBRM1_ENST00000409057.1_Silent_p.A928A|PBRM1_ENST00000337303.4_Silent_p.A928A			Q86U86	PB1_HUMAN	polybromo 1	928					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CACTCTTTTCAGCTTCTTAGG	0.398			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	0													83.0	85.0	84.0					3																	52623267		2203	4300	6503	SO:0001819	synonymous_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2784T>C	3.37:g.52623267A>G			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP	ENST00000296302.7	37																																																																																					0.398	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PCDHB13	56123	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140596070	140596070	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr5:140596070A>G	ENST00000341948.4	+	1	2562	c.2375A>G	c.(2374-2376)aAc>aGc	p.N792S		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	792					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N792S(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCCCAATAACTTTGGGTTC	0.413																																																	1	Substitution - Missense(1)	kidney(1)											77.0	83.0	81.0					5																	140596070		2203	4300	6503	SO:0001583	missense	56123			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.2375A>G	5.37:g.140596070A>G	ENSP00000345491:p.Asn792Ser		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	-	0.018	-1.479416	0.01035	.	.	ENSG00000187372	ENST00000341948;ENST00000419217	T	0.43688	0.94	4.21	-3.71	0.04424	.	.	.	.	.	T	0.07143	0.0181	N	0.00135	-2.02	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29119	-1.0022	9	0.02654	T	1	.	5.7633	0.18213	0.2969:0.3681:0.335:0.0	.	792	Q9Y5F0	PCDBD_HUMAN	S	792;738	ENSP00000345491:N792S	ENSP00000345491:N792S	N	+	2	0	PCDHB13	140576254	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.367000	0.20382	-1.062000	0.03181	-0.736000	0.03550	AAC		0.413	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1		NM_018933	
PDE4DIP	9659	hgsc.bcm.edu	37	1	145039594	145039594	+	Missense_Mutation	SNP	T	T	C	rs111958438	byFrequency	TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr1:145039594T>C	ENST00000493130.2	-	1	177	c.16A>G	c.(16-18)Acg>Gcg	p.T6A	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.T6A|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000478649.2_Missense_Mutation_p.T6A			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACCTACCTCGTCCAGGTCTGC	0.617			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													79.0	80.0	80.0					1																	145039594		876	1991	2867	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000493130.2:c.16A>G	1.37:g.145039594T>C	ENSP00000432251:p.Thr6Ala		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000493130.2	37		.	.	.	.	.	.	.	.	.	.	T	11.17	1.560174	0.27827	.	.	ENSG00000178104	ENST00000313382;ENST00000532801;ENST00000530078;ENST00000493130;ENST00000478649	T;T	0.46063	4.7;0.88	4.4	2.11	0.27256	.	.	.	.	.	T	0.08179	0.0204	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.10847	-1.0612	9	0.42905	T	0.14	.	4.7526	0.13068	0.0:0.3309:0.0:0.6691	.	6;6	Q5VU43-3;E9PQH9	.;.	A	6	ENSP00000327209:T6A;ENSP00000436751:T6A	ENSP00000327209:T6A	T	-	1	0	PDE4DIP	143750951	0.974000	0.33945	0.944000	0.38274	0.633000	0.38033	0.722000	0.25925	0.262000	0.21774	0.454000	0.30748	ACG		0.617	PDE4DIP-027	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000099618.2		NM_022359	
PEX1	5189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	92132412	92132414	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	AAC	AAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr7:92132412_92132414delAAC	ENST00000248633.4	-	13	2262_2264	c.2167_2169delGTT	c.(2167-2169)gttdel	p.V723del	PEX1_ENST00000438045.1_In_Frame_Del_p.V401del|PEX1_ENST00000428214.1_In_Frame_Del_p.V666del|PEX1_ENST00000541751.1_In_Frame_Del_p.V140del	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	723					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CTTGAGCAGAAACAAGTAAAGGA	0.384																																																	0																																										SO:0001651	inframe_deletion	5189			AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.2167_2169delGTT	7.37:g.92132412_92132414delAAC	ENSP00000248633:p.Val723del		A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	In_Frame_Del	DEL	ENST00000248633.4	37	CCDS5627.1																																																																																				0.384	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3		NM_000466	
PLAT	5327	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	42036456	42036456	+	Missense_Mutation	SNP	G	G	C	rs538933951	byFrequency	TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr8:42036456G>C	ENST00000220809.4	-	13	1745	c.1489C>G	c.(1489-1491)Cgg>Ggg	p.R497G	PLAT_ENST00000270189.6_3'UTR|PLAT_ENST00000524009.1_Missense_Mutation_p.R408G|PLAT_ENST00000429710.2_Missense_Mutation_p.R371G|PLAT_ENST00000429089.2_Missense_Mutation_p.R497G|PLAT_ENST00000352041.3_Missense_Mutation_p.R451G|PLAT_ENST00000519510.1_Missense_Mutation_p.R434G	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	497	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)	p.R497G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	CCGCCGCTCCGAGTGTCTCCA	0.597																																																	1	Substitution - Missense(1)	kidney(1)											83.0	83.0	83.0					8																	42036456		2203	4300	6503	SO:0001583	missense	5327				CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.1489C>G	8.37:g.42036456G>C	ENSP00000220809:p.Arg497Gly		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331591	0.41297	.	.	ENSG00000104368	ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009	D;D;D;D;D;D	0.89196	-2.32;-2.32;-2.48;-2.32;-2.34;-2.32	5.5	4.51	0.55191	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.87188	0.6115	N	0.05199	-0.095	0.80722	D	1	D;D;D;P;B;D	0.89917	0.997;0.974;1.0;0.649;0.39;0.995	D;P;D;B;B;D	0.97110	0.939;0.751;1.0;0.408;0.114;0.981	D	0.88943	0.3381	10	0.62326	D	0.03	.	13.4424	0.61121	0.0:0.0:0.7685:0.2315	.	371;408;434;497;451;497	B4DNJ1;B4DN26;B4DV92;B8ZX62;P00750-3;P00750	.;.;.;.;.;TPA_HUMAN	G	497;497;451;434;371;408	ENSP00000392045:R497G;ENSP00000220809:R497G;ENSP00000270188:R451G;ENSP00000428886:R434G;ENSP00000407861:R371G;ENSP00000429401:R408G	ENSP00000220809:R497G	R	-	1	2	PLAT	42155613	0.592000	0.26832	0.021000	0.16686	0.001000	0.01503	2.598000	0.46223	2.735000	0.93741	0.655000	0.94253	CGG		0.597	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1		NM_000930	
POLE3	54107	broad.mit.edu;hgsc.bcm.edu	37	9	116171064	116171064	+	3'UTR	SNP	C	C	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr9:116171064C>T	ENST00000374171.4	-	0	641				C9orf43_ENST00000374165.1_5'Flank|C9orf43_ENST00000288462.4_5'Flank|POLE3_ENST00000479871.1_5'UTR|POLE3_ENST00000374169.3_3'UTR	NM_001278255.1|NM_017443.4	NP_001265184.1|NP_059139.3	Q9NRF9	DPOE3_HUMAN	polymerase (DNA directed), epsilon 3, accessory subunit						DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|epsilon DNA polymerase complex (GO:0008622)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)			large_intestine(2)|lung(1)	3					Cladribine(DB00242)	GTGGTACCTTCCAAGGTGCCA	0.453																																																	0													187.0	144.0	159.0					9																	116171064		2203	4300	6503	SO:0001624	3_prime_UTR_variant	54107			AF261689	CCDS6795.1	9q33	2012-05-18	2012-05-18		ENSG00000148229	ENSG00000148229		"""DNA polymerases"""	13546	protein-coding gene	gene with protein product	"""histone fold protein CHRAC17"", ""DNA polymerase epsilon p17 subunit"", ""chromatin accessibility complex 17"", ""arsenic transactivated protein"""	607267	"""polymerase (DNA directed), epsilon 3 (p17 subunit)"""			10801849, 10880450	Standard	NM_017443		Approved	CHRAC17, Ybl1, p17, CHARAC17	uc031tet.1	Q9NRF9	OTTHUMG00000020523	ENST00000374171.4:c.*27G>A	9.37:g.116171064C>T			Q5W0U1|Q8N758|Q8NCE5|Q9NR32	RNA	SNP	ENST00000374171.4	37	CCDS6795.1																																																																																				0.453	POLE3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053730.1		NM_017443	
PPP1R10	5514	broad.mit.edu;hgsc.bcm.edu	37	6	30569885	30569885	+	Silent	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr6:30569885G>A	ENST00000376511.2	-	19	3093	c.2541C>T	c.(2539-2541)ccC>ccT	p.P847P		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	847	Gly-rich.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)	p.P847P(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GGCCTTCATGGGGACGATGTC	0.677																																																	1	Substitution - coding silent(1)	kidney(1)											85.0	87.0	86.0					6																	30569885		1508	2708	4216	SO:0001819	synonymous_variant	5514			Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2541C>T	6.37:g.30569885G>A			O00405	Silent	SNP	ENST00000376511.2	37	CCDS4681.1																																																																																				0.677	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2		NM_002714	
PTPN13	5783	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	87679432	87679432	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr4:87679432G>A	ENST00000411767.2	+	21	3306	c.3243G>A	c.(3241-3243)tgG>tgA	p.W1081*	PTPN13_ENST00000427191.2_Nonsense_Mutation_p.W1062*|PTPN13_ENST00000436978.1_Nonsense_Mutation_p.W1081*|PTPN13_ENST00000316707.6_Nonsense_Mutation_p.W890*|PTPN13_ENST00000511467.1_Nonsense_Mutation_p.W1081*			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1081					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.W1081*(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACAAAAGATGGAGCATAGTAT	0.348																																																	1	Substitution - Nonsense(1)	kidney(1)											88.0	82.0	84.0					4																	87679432		1857	4092	5949	SO:0001587	stop_gained	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.3243G>A	4.37:g.87679432G>A	ENSP00000407249:p.Trp1081*		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Nonsense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	45	12.068237	0.99632	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	.	.	.	5.57	5.57	0.84162	.	0.313092	0.23474	N	0.047793	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	12.8376	0.57782	0.0746:0.0:0.9254:0.0	.	.	.	.	X	1062;1081;890;1081;1081;1030	.	ENSP00000322675:W890X	W	+	3	0	PTPN13	87898456	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	1.704000	0.37857	2.604000	0.88044	0.650000	0.86243	TGG		0.348	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			
PTPRN2	5799	broad.mit.edu;hgsc.bcm.edu	37	7	157985188	157985188	+	Splice_Site	SNP	C	C	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr7:157985188C>T	ENST00000389418.4	-	5	390		c.e5-1		PTPRN2_ENST00000389416.4_Splice_Site|PTPRN2_ENST00000409483.1_Splice_Site|PTPRN2_ENST00000389413.3_Splice_Site|PTPRN2_ENST00000404321.2_Splice_Site	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2						negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TTTTGAGGGCCTGAAAAAGCA	0.632																																																	1	Unknown(1)	kidney(1)											47.0	54.0	52.0					7																	157985188		2203	4299	6502	SO:0001630	splice_region_variant	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.381-1G>A	7.37:g.157985188C>T			E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Splice_Site	SNP	ENST00000389418.4	37	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	.	13.90	2.375737	0.42105	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	.	.	.	4.17	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7262	0.57173	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPRN2	157677949	0.993000	0.37304	0.818000	0.32626	0.019000	0.09904	3.062000	0.49971	2.245000	0.73994	0.591000	0.81541	.		0.632	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			Intron
PVRL3	25945	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	110837735	110837735	+	Silent	SNP	T	T	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr3:110837735T>A	ENST00000485303.1	+	3	1010	c.735T>A	c.(733-735)acT>acA	p.T245T	PVRL3_ENST00000493615.1_Silent_p.T222T|PVRL3_ENST00000319792.3_Silent_p.T245T	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	245	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)	p.T245T(1)|p.T222T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						GGCGAATTACTTGTGTTGTAA	0.353																																																	2	Substitution - coding silent(2)	kidney(2)											76.0	74.0	75.0					3																	110837735		2203	4300	6503	SO:0001819	synonymous_variant	25945			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.735T>A	3.37:g.110837735T>A			E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Silent	SNP	ENST00000485303.1	37	CCDS2957.1																																																																																				0.353	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1		NM_015480	
RAB2B	84932	broad.mit.edu;hgsc.bcm.edu	37	14	21944786	21944786	+	Intron	SNP	C	C	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr14:21944786C>T	ENST00000397762.1	-	2	147				TOX4_ENST00000262709.3_5'Flank|TOX4_ENST00000448790.2_5'Flank|RAB2B_ENST00000461909.1_5'UTR|TOX4_ENST00000405508.1_5'Flank	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family						positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		CTCCCGGAATCACGCAGCCCT	0.627											OREG0022569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(131;1007 1750 28652 34486 42672)												0													70.0	69.0	69.0					14																	21944786		2203	4300	6503	SO:0001627	intron_variant	84932			AK027730	CCDS9570.1	14q11.1	2006-12-18			ENSG00000129472	ENSG00000129472		"""RAB, member RAS oncogene"""	20246	protein-coding gene	gene with protein product		607466				12376746	Standard	NM_032846		Approved	FLJ14824	uc010tlt.2	Q8WUD1	OTTHUMG00000029693	ENST00000397762.1:c.47-28G>A	14.37:g.21944786C>T		752	B2RD03|D3DS24|Q6NZ33	RNA	SNP	ENST00000397762.1	37	CCDS9570.1																																																																																				0.627	RAB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074053.4			
RABGGTA	5875	hgsc.bcm.edu;ucsc.edu	37	14	24740082	24740084	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	CAG	CAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr14:24740082_24740084delCAG	ENST00000399409.3	-	2	556_558	c.73_75delCTG	c.(73-75)ctgdel	p.L25del	RABGGTA_ENST00000559586.1_5'UTR|RABGGTA_ENST00000560777.1_5'Flank|RABGGTA_ENST00000216840.6_In_Frame_Del_p.L25del	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	25					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GGTATAGCTTCAGCTTCTGCTCT	0.576																																																	0																																										SO:0001651	inframe_deletion	5875				CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"""Prenyltransferase alpha subunit repeat containing"""	9795	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 3"""	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.73_75delCTG	14.37:g.24740082_24740084delCAG	ENSP00000382341:p.Leu25del		A8K5N2|D3DS69	In_Frame_Del	DEL	ENST00000399409.3	37	CCDS45088.1																																																																																				0.576	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5		NM_182836	
RBAK	57786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	5104366	5104366	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr7:5104366A>G	ENST00000353796.3	+	6	1603	c.1279A>G	c.(1279-1281)Aag>Gag	p.K427E	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK_ENST00000396912.1_Missense_Mutation_p.K427E	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	427	Interaction with AR.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.K427E(1)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		CACGGGAGAGAAGCCCTATCA	0.403																																																	1	Substitution - Missense(1)	kidney(1)											56.0	54.0	54.0					7																	5104366		2203	4300	6503	SO:0001583	missense	57786			AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.1279A>G	7.37:g.5104366A>G	ENSP00000275423:p.Lys427Glu		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	37	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	A	19.69	3.874811	0.72180	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.27104	1.69;1.69	3.76	3.76	0.43208	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000075	T	0.50905	0.1643	M	0.82630	2.6	0.32936	D	0.517770	D	0.55605	0.972	D	0.75484	0.986	T	0.65516	-0.6149	8	.	.	.	.	11.0559	0.47918	1.0:0.0:0.0:0.0	.	427	Q9NYW8	RBAK_HUMAN	E	427	ENSP00000275423:K427E;ENSP00000380120:K427E	.	K	+	1	0	RBAK	5070892	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.641000	0.74324	1.931000	0.55961	0.454000	0.30748	AAG		0.403	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2		NM_021163	
RPH3A	22895	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	113285641	113285641	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr12:113285641G>A	ENST00000389385.4	+	5	721	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	RPH3A_ENST00000551052.1_Missense_Mutation_p.R71Q|RPH3A_ENST00000447659.2_Intron|RPH3A_ENST00000415485.3_Missense_Mutation_p.R75Q|RPH3A_ENST00000420983.2_Missense_Mutation_p.R75Q|RPH3A_ENST00000548866.1_Intron|RPH3A_ENST00000543106.2_Missense_Mutation_p.R75Q	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	75	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)	p.R71Q(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GAGCAGGAGCGAATCGGGTGA	0.562																																																	1	Substitution - Missense(1)	kidney(1)											78.0	62.0	68.0					12																	113285641		2203	4300	6503	SO:0001583	missense	22895			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.224G>A	12.37:g.113285641G>A	ENSP00000374036:p.Arg75Gln		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	G	34	5.309726	0.95629	.	.	ENSG00000089169	ENST00000548197;ENST00000547686;ENST00000543106;ENST00000551593;ENST00000551748;ENST00000546703;ENST00000547840;ENST00000547728;ENST00000549769;ENST00000552667;ENST00000389385;ENST00000550901;ENST00000551198;ENST00000551052;ENST00000415485;ENST00000553114;ENST00000420983	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09	5.07	5.07	0.68467	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Rabphilin-3A effector, zinc-binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.56097	D	0.000021	D	0.93792	0.8015	M	0.83223	2.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.93909	0.7195	9	.	.	.	.	17.5808	0.87968	0.0:0.0:1.0:0.0	.	75;75;71	B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;RP3A_HUMAN;.	Q	75;75;75;75;75;75;75;75;75;75;75;8;75;71;75;75;75	ENSP00000446570:R75Q;ENSP00000449705:R75Q;ENSP00000440384:R75Q;ENSP00000446780:R75Q;ENSP00000447306:R75Q;ENSP00000446556:R75Q;ENSP00000450382:R75Q;ENSP00000449613:R75Q;ENSP00000447505:R75Q;ENSP00000449650:R75Q;ENSP00000374036:R75Q;ENSP00000448100:R8Q;ENSP00000447083:R75Q;ENSP00000448297:R71Q;ENSP00000405357:R75Q;ENSP00000450216:R75Q;ENSP00000408889:R75Q	.	R	+	2	0	RPH3A	111770024	1.000000	0.71417	0.939000	0.37840	0.969000	0.65631	8.797000	0.91882	2.492000	0.84095	0.655000	0.94253	CGA		0.562	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1		NM_014954	
RRM2	6241	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	10269379	10269379	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr2:10269379C>T	ENST00000304567.5	+	10	1105	c.1036C>T	c.(1036-1038)Cca>Tca	p.P346S	RRM2_ENST00000360566.2_Missense_Mutation_p.P406S	NM_001034.3	NP_001025.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	346					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)	p.P406S(1)|p.P346S(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	Cladribine(DB00242)|Gallium nitrate(DB05260)	AGTAGAGAACCCATTTGACTT	0.383																																																	2	Substitution - Missense(2)	kidney(2)											70.0	71.0	70.0					2																	10269379		2203	4300	6503	SO:0001583	missense	6241				CCDS1669.1, CCDS54334.1	2p25-p24	2012-10-02	2009-07-10		ENSG00000171848	ENSG00000171848	1.17.4.1		10452	protein-coding gene	gene with protein product		180390	"""ribonucleotide reductase M2 polypeptide"""				Standard	NM_001034		Approved		uc021vdr.1	P31350	OTTHUMG00000090449	ENST00000304567.5:c.1036C>T	2.37:g.10269379C>T	ENSP00000302955:p.Pro346Ser		B2R9B5|J3KP43|Q5WRU7	Missense_Mutation	SNP	ENST00000304567.5	37	CCDS1669.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212239	0.79240	.	.	ENSG00000171848	ENST00000360566;ENST00000304567	D;D	0.99735	-6.58;-6.58	5.67	4.8	0.61643	Ferritin/ribonucleotide reductase-like (1);Ribonucleotide reductase-related (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.96722	0.9533	10	0.87932	D	0	-22.5664	14.3723	0.66849	0.0:0.9293:0.0:0.0707	.	346	P31350	RIR2_HUMAN	S	406;346	ENSP00000353770:P406S;ENSP00000302955:P346S	ENSP00000302955:P346S	P	+	1	0	RRM2	10186830	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.631000	0.83237	1.401000	0.46761	0.557000	0.71058	CCA		0.383	RRM2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364902.2			
SACS	26278	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	23909182	23909182	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr13:23909182G>T	ENST00000382292.3	-	9	9106	c.8833C>A	c.(8833-8835)Cag>Aag	p.Q2945K	SACS_ENST00000382298.3_Missense_Mutation_p.Q2945K|SACS_ENST00000402364.1_Missense_Mutation_p.Q2195K			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2945					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.Q2798K(1)|p.Q2945K(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGGGTGTTCTGTAACACTGAT	0.348																																																	2	Substitution - Missense(2)	kidney(2)											108.0	108.0	108.0					13																	23909182		2203	4300	6503	SO:0001583	missense	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8833C>A	13.37:g.23909182G>T	ENSP00000371729:p.Gln2945Lys		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	27.6	4.841921	0.91197	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87103	-2.06;-2.21;-2.06	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.85168	0.5635	L	0.46157	1.445	0.49130	D	0.999757	D	0.54207	0.965	B	0.43990	0.438	T	0.82540	-0.0406	10	0.19590	T	0.45	.	19.7024	0.96060	0.0:0.0:1.0:0.0	.	2945	Q9NZJ4	SACS_HUMAN	K	2945;2195;2945	ENSP00000371729:Q2945K;ENSP00000385844:Q2195K;ENSP00000371735:Q2945K	ENSP00000371729:Q2945K	Q	-	1	0	SACS	22807182	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.476000	0.97823	2.653000	0.90120	0.555000	0.69702	CAG		0.348	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3		NM_014363	
SCRIB	23513	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	144874929	144874929	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr8:144874929G>A	ENST00000320476.3	-	30	4132	c.4126C>T	c.(4126-4128)Cgc>Tgc	p.R1376C	RP11-429J17.8_ENST00000532625.1_RNA|SCRIB_ENST00000377533.3_Missense_Mutation_p.R1295C|SCRIB_ENST00000546337.1_5'UTR|RP11-429J17.8_ENST00000534089.1_RNA|SCRIB_ENST00000356994.2_Missense_Mutation_p.R1376C|RP11-429J17.8_ENST00000527139.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1376					activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)		p.R1376C(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGGGACACGCGCTTAGGGGGG	0.697																																					Pancreas(51;966 1133 10533 14576 29674)												2	Substitution - Missense(2)	kidney(2)											18.0	17.0	17.0					8																	144874929		2197	4291	6488	SO:0001583	missense	23513			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.4126C>T	8.37:g.144874929G>A	ENSP00000322938:p.Arg1376Cys		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	CCDS6411.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.47|15.47	2.843139|2.843139	0.51057|0.51057	.|.	.|.	ENSG00000180900|ENSG00000180900	ENST00000526832|ENST00000356994;ENST00000320476;ENST00000377533	.|T;T;T	.|0.48201	.|1.03;0.98;0.82	4.71|4.71	2.64|2.64	0.31445|0.31445	.|.	.|.	.|.	.|.	.|.	T|T	0.64472|0.64472	0.2601|0.2601	M|M	0.74258|0.74258	2.255|2.255	0.58432|0.58432	D|D	0.999992|0.999992	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.85130	.|0.993;0.966;0.997	T|T	0.65940|0.65940	-0.6046|-0.6046	5|9	.|0.72032	.|D	.|0.01	.|.	9.3159|9.3159	0.37934|0.37934	0.0896:0.0:0.7562:0.1542|0.0896:0.0:0.7562:0.1542	.|.	.|1376;1376;1295	.|Q14160;Q14160-3;Q14160-2	.|SCRIB_HUMAN;.;.	V|C	371|1376;1376;1295	.|ENSP00000349486:R1376C;ENSP00000322938:R1376C;ENSP00000366756:R1295C	.|ENSP00000322938:R1376C	A|R	-|-	2|1	0|0	SCRIB|SCRIB	144946917|144946917	1.000000|1.000000	0.71417|0.71417	0.789000|0.789000	0.31954|0.31954	0.205000|0.205000	0.24178|0.24178	3.774000|3.774000	0.55341|0.55341	0.976000|0.976000	0.38417|0.38417	0.491000|0.491000	0.48974|0.48974	GCG|CGC		0.697	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1		NM_015356	
SCRT2	85508	broad.mit.edu	37	20	656174	656174	+	Silent	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr20:656174G>A	ENST00000246104.6	-	1	649	c.72C>T	c.(70-72)acC>acT	p.T24T	RP5-850E9.3_ENST00000488788.2_Silent_p.T24T	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN	scratch family zinc finger 2	24					negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron migration (GO:2001222)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.T24T(1)		kidney(1)|liver(1)|ovary(1)	3						AGGGGTGGTAGGTGGGGGCCG	0.731																																																	1	Substitution - coding silent(1)	kidney(1)											6.0	9.0	8.0					20																	656174		2142	4197	6339	SO:0001819	synonymous_variant	85508				CCDS13006.1	20p13	2013-10-09	2013-10-09		ENSG00000215397	ENSG00000215397		"""Zinc fingers, C2H2-type"""	15952	protein-coding gene	gene with protein product			"""scratch (drosophila homolog) 2, zinc finger protein"", ""scratch homolog 2, zinc finger protein (Drosophila)"""			11274425	Standard	NM_033129		Approved	ZNF898B	uc002wec.3	Q9NQ03	OTTHUMG00000130829	ENST00000246104.6:c.72C>T	20.37:g.656174G>A				Silent	SNP	ENST00000246104.6	37	CCDS13006.1																																																																																				0.731	SCRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253383.2		NM_033129	
SETD4	54093	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	37418054	37418054	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr21:37418054A>T	ENST00000399215.1	-	5	1924	c.552T>A	c.(550-552)ttT>ttA	p.F184L	SETD4_ENST00000332131.4_Missense_Mutation_p.F184L|SETD4_ENST00000399212.1_Missense_Mutation_p.F160L|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399205.1_Missense_Mutation_p.F160L|SETD4_ENST00000399207.1_Missense_Mutation_p.F184L|SETD4_ENST00000399208.2_Missense_Mutation_p.F184L|SETD4_ENST00000399201.1_Missense_Mutation_p.F160L			Q9NVD3	SETD4_HUMAN	SET domain containing 4	184	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)	p.F184L(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						CAGCCTCCGCAAACAGAGGCT	0.542																																																	1	Substitution - Missense(1)	kidney(1)											65.0	72.0	69.0					21																	37418054		2203	4300	6503	SO:0001583	missense	54093			AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 27"", ""chromosome 21 open reading frame 18"""	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.552T>A	21.37:g.37418054A>T	ENSP00000382163:p.Phe184Leu		B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Missense_Mutation	SNP	ENST00000399215.1	37	CCDS13640.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.948020	0.34377	.	.	ENSG00000185917	ENST00000399215;ENST00000399212;ENST00000332131;ENST00000399205;ENST00000399208;ENST00000399201;ENST00000399207;ENST00000424303;ENST00000429161	T;T;T;T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56	4.96	1.23	0.21249	SET domain (1);	0.108055	0.64402	N	0.000004	T	0.13586	0.0329	L	0.59912	1.85	0.46849	D	0.999227	B;B;B;B	0.31730	0.077;0.337;0.146;0.276	B;B;B;B	0.35114	0.196;0.162;0.058;0.137	T	0.07908	-1.0748	10	0.25106	T	0.35	-5.6889	8.7436	0.34571	0.7771:0.0:0.2229:0.0	.	160;184;160;184	A8MTS1;C9JWV5;Q9NVD3-3;Q9NVD3	.;.;.;SETD4_HUMAN	L	184;160;184;160;184;160;184;184;184	ENSP00000382163:F184L;ENSP00000382161:F160L;ENSP00000329189:F184L;ENSP00000382156:F160L;ENSP00000382159:F184L;ENSP00000382152:F160L;ENSP00000382158:F184L;ENSP00000399998:F184L;ENSP00000396837:F184L	ENSP00000329189:F184L	F	-	3	2	SETD4	36339924	0.340000	0.24792	0.606000	0.28943	0.780000	0.44128	0.833000	0.27504	0.315000	0.23110	0.533000	0.62120	TTT		0.542	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1		NM_017438	
SKIV2L2	23517	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	54701366	54701366	+	Silent	SNP	T	T	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr5:54701366T>A	ENST00000230640.5	+	22	2849	c.2595T>A	c.(2593-2595)acT>acA	p.T865T	SKIV2L2_ENST00000545714.1_Silent_p.T764T	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	865					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.T865T(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GATTTGCTACTTCTTCTGATG	0.348																																					Melanoma(2;92 134 23744 29976 33782)												1	Substitution - coding silent(1)	kidney(1)											144.0	146.0	145.0					5																	54701366		2203	4300	6503	SO:0001819	synonymous_variant	23517			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.2595T>A	5.37:g.54701366T>A			Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Silent	SNP	ENST00000230640.5	37	CCDS3967.1																																																																																				0.348	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			
SLC16A14	151473	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	230910577	230910577	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr2:230910577delA	ENST00000295190.4	-	4	1723	c.1265delT	c.(1264-1266)ttcfs	p.F422fs		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	422						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CATTAGGGAGAAATAACCACT	0.498																																																	0													82.0	75.0	77.0					2																	230910577		2203	4300	6503	SO:0001589	frameshift_variant	151473			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.1265delT	2.37:g.230910577delA	ENSP00000295190:p.Phe422fs		A8KA08|Q53R92|Q96NI7	Frame_Shift_Del	DEL	ENST00000295190.4	37	CCDS2473.1																																																																																				0.498	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2		NM_152527	
SON	6651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	34925507	34925507	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr21:34925507G>C	ENST00000356577.4	+	3	4445	c.3970G>C	c.(3970-3972)Gaa>Caa	p.E1324Q	SON_ENST00000290239.6_Missense_Mutation_p.E1324Q|SON_ENST00000381679.4_Missense_Mutation_p.E1324Q|SON_ENST00000300278.4_Missense_Mutation_p.E1324Q|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1324					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E1324Q(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGTTGCCTCAGAAGTATCTAC	0.502																																																	2	Substitution - Missense(2)	kidney(2)											72.0	61.0	65.0					21																	34925507		2203	4300	6503	SO:0001583	missense	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.3970G>C	21.37:g.34925507G>C	ENSP00000348984:p.Glu1324Gln		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	CCDS13629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.087|8.087	0.773718|0.773718	0.16051|0.16051	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679|ENST00000436227	T;T;T;T|.	0.13420|.	2.77;2.77;2.76;2.59|.	5.48|5.48	4.59|4.59	0.56863|0.56863	.|.	0.226713|.	0.31156|.	N|.	0.008155|.	T|T	0.37265|0.37265	0.0997|0.0997	L|L	0.27053|0.27053	0.805|0.805	0.24281|0.24281	N|N	0.995208|0.995208	P;P;B;P;P|.	0.39181|.	0.663;0.533;0.037;0.663;0.663|.	B;B;B;B;B|.	0.37888|.	0.172;0.123;0.022;0.26;0.243|.	T|T	0.24476|0.24476	-1.0159|-1.0159	10|5	0.49607|.	T|.	0.09|.	.|.	14.1418|14.1418	0.65325|0.65325	0.0:0.151:0.849:0.0|0.0:0.151:0.849:0.0	.|.	1324;1324;1005;1324;1324|.	P18583-10;P18583;P18583-2;P18583-3;P18583-6|.	.;SON_HUMAN;.;.;.|.	Q|H	1324|318	ENSP00000348984:E1324Q;ENSP00000290239:E1324Q;ENSP00000300278:E1324Q;ENSP00000371095:E1324Q|.	ENSP00000290239:E1324Q|.	E|Q	+|+	1|3	0|2	SON|SON	33847377|33847377	0.992000|0.992000	0.36948|0.36948	0.746000|0.746000	0.31095|0.31095	0.090000|0.090000	0.18270|0.18270	3.072000|3.072000	0.50049|0.50049	1.533000|1.533000	0.49186|0.49186	0.609000|0.609000	0.83330|0.83330	GAA|CAG		0.502	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2		NM_138927	
SCAF11	9169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	46322466	46322466	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr12:46322466T>A	ENST00000369367.3	-	11	1251	c.1018A>T	c.(1018-1020)Ata>Tta	p.I340L	SCAF11_ENST00000549162.1_Missense_Mutation_p.I148L|SCAF11_ENST00000465950.1_Missense_Mutation_p.I25L|SCAF11_ENST00000419565.2_Missense_Mutation_p.I340L	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	340					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.I340L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TTGTCTGATATTGGGGATCTC	0.458																																																	1	Substitution - Missense(1)	kidney(1)											191.0	189.0	190.0					12																	46322466		2203	4300	6503	SO:0001583	missense	0			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.1018A>T	12.37:g.46322466T>A	ENSP00000358374:p.Ile340Leu		A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	T	10.69	1.421961	0.25639	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.42900	1.56;2.3;1.56;2.3;0.96	5.92	2.41	0.29592	.	0.594244	0.16140	N	0.227793	T	0.22589	0.0545	N	0.19112	0.55	0.09310	N	1	B;B	0.18968	0.032;0.01	B;B	0.12837	0.008;0.002	T	0.13124	-1.0521	10	0.26408	T	0.33	-1.958	4.2999	0.10920	0.0:0.3094:0.1943:0.4964	.	148;340	F8VXG7;Q99590	.;SCAFB_HUMAN	L	25;340;148;340;280	ENSP00000449812:I25L;ENSP00000358374:I340L;ENSP00000448864:I148L;ENSP00000413036:I340L;ENSP00000446746:I280L	ENSP00000358374:I340L	I	-	1	0	SCAF11	44608733	0.015000	0.18098	0.208000	0.23602	0.680000	0.39746	0.251000	0.18257	0.688000	0.31529	-0.334000	0.08254	ATA		0.458	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2		NM_004719	
SUOX	6821	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56396036	56396036	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr12:56396036A>G	ENST00000394109.3	+	1	755	c.31A>G	c.(31-33)Agg>Ggg	p.R11G	SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000356124.4_Missense_Mutation_p.R11G|SUOX_ENST00000551841.2_Missense_Mutation_p.R11G|SUOX_ENST00000394115.2_Missense_Mutation_p.R11G|SUOX_ENST00000548274.1_Missense_Mutation_p.R11G|SUOX_ENST00000266971.3_Missense_Mutation_p.R11G			P51687	SUOX_HUMAN	sulfite oxidase	11					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)	p.R11G(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			TGTGGTCCTCAGGCTCCAACA	0.542																																																	1	Substitution - Missense(1)	kidney(1)											84.0	77.0	79.0					12																	56396036		2203	4300	6503	SO:0001583	missense	6821			BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.31A>G	12.37:g.56396036A>G	ENSP00000377668:p.Arg11Gly			Missense_Mutation	SNP	ENST00000394109.3	37	CCDS8901.2	.	.	.	.	.	.	.	.	.	.	A	10.53	1.375644	0.24857	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000547586;ENST00000552258;ENST00000548274;ENST00000546833;ENST00000551841;ENST00000394109	D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85	4.41	0.322	0.15888	.	1.256650	0.05702	N	0.594292	T	0.75867	0.3908	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.62807	-0.6776	10	0.19590	T	0.45	-1.5852	4.4705	0.11710	0.2859:0.1797:0.5344:0.0	.	11;11	F8VRK9;P51687	.;SUOX_HUMAN	G	11	ENSP00000348440:R11G;ENSP00000266971:R11G;ENSP00000377674:R11G;ENSP00000450245:R11G;ENSP00000377668:R11G	ENSP00000266971:R11G	R	+	1	2	SUOX	54682303	0.001000	0.12720	0.000000	0.03702	0.665000	0.39181	0.701000	0.25616	-0.039000	0.13602	-0.353000	0.07706	AGG		0.542	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1		NM_000456	
SUZ12	23512	hgsc.bcm.edu	37	17	30310087	30310088	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr17:30310087_30310088insA	ENST00000322652.5	+	9	1216_1217	c.987_988insA	c.(988-990)aaafs	p.K330fs	SUZ12_ENST00000580398.1_Frame_Shift_Ins_p.K307fs	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	330					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CAATAAGCAAGAAAAGAGCAAC	0.381			T	JAZF1	endometrial stromal tumours																																			Dom	yes		17	17q11.2	23512	suppressor of zeste 12 homolog (Drosophila)		M	0																																										SO:0001589	frameshift_variant	23512			D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.991dupA	17.37:g.30310091_30310091dupA	ENSP00000316578:p.Lys330fs		Q96BD9	Frame_Shift_Ins	INS	ENST00000322652.5	37	CCDS11270.1																																																																																				0.381	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2		NM_015355	
SYNE1	23345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	152757208	152757208	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr6:152757208G>A	ENST00000367255.5	-	33	4779	c.4178C>T	c.(4177-4179)gCa>gTa	p.A1393V	SYNE1_ENST00000448038.1_Missense_Mutation_p.A1400V|SYNE1_ENST00000413186.2_Missense_Mutation_p.A1393V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1459V|SYNE1_ENST00000367248.3_Missense_Mutation_p.A1383V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1393V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1400V|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1393V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1393					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.A1393V(2)|p.A1400V(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCCTGGACTGCAATACTTTC	0.398										HNSCC(10;0.0054)																																							3	Substitution - Missense(3)	kidney(3)											106.0	98.0	101.0					6																	152757208		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4178C>T	6.37:g.152757208G>A	ENSP00000356224:p.Ala1393Val		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	17.24	3.340196	0.60963	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.88046	0.6;0.6;0.5;0.59;0.65;-2.23;-2.33;-2.33	5.91	5.91	0.95273	.	0.000000	0.56097	D	0.000026	D	0.87565	0.6209	L	0.55103	1.725	0.80722	D	1	D;B;B;P;B;B	0.71674	0.998;0.101;0.162;0.566;0.101;0.162	P;B;B;B;B;B	0.62649	0.905;0.028;0.058;0.138;0.028;0.102	T	0.82938	-0.0209	10	0.06757	T	0.87	.	20.2956	0.98549	0.0:0.0:1.0:0.0	.	1376;1393;1383;1393;1393;1400	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	V	1393;1400;1393;1400;1459;1393;1383;1393	ENSP00000356224:A1393V;ENSP00000396024:A1400V;ENSP00000265368:A1393V;ENSP00000390975:A1400V;ENSP00000341887:A1459V;ENSP00000356222:A1393V;ENSP00000356217:A1383V;ENSP00000414510:A1393V	ENSP00000265368:A1393V	A	-	2	0	SYNE1	152798901	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	6.536000	0.73842	2.805000	0.96524	0.460000	0.39030	GCA		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961	
TACR2	6865	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	71166878	71166878	+	Silent	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr10:71166878G>A	ENST00000373306.4	-	4	1443	c.900C>T	c.(898-900)acC>acT	p.T300T	TACR2_ENST00000373307.1_Silent_p.T88T	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	300					excretion (GO:0007588)|intestine smooth muscle contraction (GO:0014827)|muscle contraction (GO:0006936)|negative regulation of luteinizing hormone secretion (GO:0033685)|operant conditioning (GO:0035106)|positive regulation of acetylcholine secretion, neurotransmission (GO:0014057)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|prolactin secretion (GO:0070459)|tachykinin receptor signaling pathway (GO:0007217)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance K receptor activity (GO:0016497)|tachykinin receptor activity (GO:0004995)	p.T300T(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						GATTGTACATGGTAGAGCTCA	0.587																																																	1	Substitution - coding silent(1)	kidney(1)											229.0	192.0	205.0					10																	71166878		2203	4300	6503	SO:0001819	synonymous_variant	6865				CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073		"""GPCR / Class A : Tachykinin receptors"""	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR			Standard	NM_001057		Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.900C>T	10.37:g.71166878G>A			A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Silent	SNP	ENST00000373306.4	37	CCDS7293.1																																																																																				0.587	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048411.1			
TAF1A	9015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	222750908	222750908	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr1:222750908C>G	ENST00000352967.4	-	5	671	c.483G>C	c.(481-483)gaG>gaC	p.E161D	TAF1A_ENST00000350027.4_Missense_Mutation_p.E161D|TAF1A_ENST00000366890.1_Missense_Mutation_p.E47D|TAF1A_ENST00000391882.1_Missense_Mutation_p.E47D|TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000543857.1_Missense_Mutation_p.E161D	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	161					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)	p.E161D(1)		kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		GTCTCCATGTCTCTGCCTCAC	0.383																																																	1	Substitution - Missense(1)	kidney(1)											152.0	147.0	149.0					1																	222750908		2203	4300	6503	SO:0001583	missense	9015			L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"""			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.483G>C	1.37:g.222750908C>G	ENSP00000327072:p.Glu161Asp		B2RDZ8|D3DTB7|Q9NWA1	Missense_Mutation	SNP	ENST00000352967.4	37	CCDS1531.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875114	0.72180	.	.	ENSG00000143498	ENST00000366890;ENST00000350027;ENST00000352967;ENST00000391882;ENST00000433270;ENST00000391883;ENST00000543857	T;T;T;T	0.52295	0.7;0.7;0.69;0.67	6.08	2.8	0.32819	.	0.092366	0.85682	D	0.000000	T	0.61640	0.2363	M	0.69248	2.105	0.40200	D	0.977504	D;D	0.89917	1.0;0.993	D;P	0.83275	0.996;0.879	T	0.62558	-0.6829	10	0.59425	D	0.04	-1.6033	8.0917	0.30805	0.0:0.6752:0.0:0.3248	.	161;161	B4DS21;Q15573	.;TAF1A_HUMAN	D	47;161;161;47;123;123;161	ENSP00000339976:E161D;ENSP00000327072:E161D;ENSP00000375755:E123D;ENSP00000437725:E161D	ENSP00000339976:E161D	E	-	3	2	TAF1A	220817531	0.998000	0.40836	1.000000	0.80357	0.804000	0.45430	0.324000	0.19610	0.908000	0.36671	-0.140000	0.14226	GAG		0.383	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091493.2		NM_005681	
THAP5	168451	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	108205177	108205177	+	Missense_Mutation	SNP	G	G	T	rs192004311		TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr7:108205177G>T	ENST00000415914.3	-	3	799	c.646C>A	c.(646-648)Cat>Aat	p.H216N	THAP5_ENST00000313516.5_Missense_Mutation_p.H174N|THAP5_ENST00000438865.1_3'UTR|THAP5_ENST00000493722.1_5'UTR	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	216					cell cycle (GO:0007049)|negative regulation of cell cycle (GO:0045786)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protease binding (GO:0002020)	p.H216N(1)|p.H54N(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						AAAGATTGATGAATACTTTCT	0.333																																																	2	Substitution - Missense(2)	kidney(2)											52.0	52.0	52.0					7																	108205177		2202	4295	6497	SO:0001583	missense	168451			AL833137	CCDS34734.2, CCDS47687.1	7q22.3	2013-01-25			ENSG00000177683	ENSG00000177683		"""THAP (C2CH-type zinc finger) domain containing"""	23188	protein-coding gene	gene with protein product		612534				12575992	Standard	NM_001287598		Approved	DKFZp313O1132	uc003vfm.3	Q7Z6K1	OTTHUMG00000154951	ENST00000415914.3:c.646C>A	7.37:g.108205177G>T	ENSP00000400500:p.His216Asn			Missense_Mutation	SNP	ENST00000415914.3	37	CCDS47687.1	.	.	.	.	.	.	.	.	.	.	G	0.251	-1.006632	0.02112	.	.	ENSG00000177683	ENST00000415914;ENST00000313516	D;D	0.95980	-3.87;-2.38	4.6	2.73	0.32206	.	3.332770	0.01460	N	0.015825	D	0.88507	0.6455	N	0.08118	0	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.80455	-0.1375	9	.	.	.	.	4.5126	0.11919	0.0884:0.1444:0.5977:0.1694	.	216	Q7Z6K1	THAP5_HUMAN	N	216;174	ENSP00000400500:H216N;ENSP00000322440:H174N	.	H	-	1	0	THAP5	107992413	0.003000	0.15002	0.181000	0.23098	0.308000	0.27856	0.350000	0.20079	1.048000	0.40298	0.650000	0.86243	CAT		0.333	THAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337777.2		NM_182529	
TMEM179B	374395	broad.mit.edu;ucsc.edu	37	11	62557433	62557433	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr11:62557433A>G	ENST00000333449.4	+	5	579	c.574A>G	c.(574-576)Acc>Gcc	p.T192A	TMEM223_ENST00000527073.1_Intron|NXF1_ENST00000533048.1_5'Flank|TMEM179B_ENST00000533861.1_3'UTR|TMEM223_ENST00000525631.1_Intron	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	192						integral component of membrane (GO:0016021)		p.T192A(1)		kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						GTCTGAAGCCACCCCATACCG	0.552																																																	1	Substitution - Missense(1)	kidney(1)											147.0	142.0	144.0					11																	62557433		2201	4299	6500	SO:0001583	missense	374395			BC051355	CCDS8036.1	11q12.3	2007-11-26			ENSG00000185475	ENSG00000185475			33744	protein-coding gene	gene with protein product							Standard	NM_199337		Approved		uc001nvd.4	Q7Z7N9	OTTHUMG00000167611	ENST00000333449.4:c.574A>G	11.37:g.62557433A>G	ENSP00000333697:p.Thr192Ala			Missense_Mutation	SNP	ENST00000333449.4	37	CCDS8036.1	.	.	.	.	.	.	.	.	.	.	A	11.59	1.684838	0.29872	.	.	ENSG00000185475	ENST00000333449	.	.	.	5.71	-2.93	0.05598	.	0.926326	0.09282	N	0.823529	T	0.35885	0.0947	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.31613	-0.9937	9	0.38643	T	0.18	.	6.1055	0.20071	0.3258:0.3323:0.3419:0.0	.	192	Q7Z7N9	T179B_HUMAN	A	192	.	ENSP00000333697:T192A	T	+	1	0	TMEM179B	62314009	0.000000	0.05858	0.000000	0.03702	0.979000	0.70002	-0.561000	0.05957	-0.413000	0.07507	0.459000	0.35465	ACC		0.552	TMEM179B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395362.2		NM_199337	
TMEM67	91147	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	94821184	94821184	+	Splice_Site	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr8:94821184G>A	ENST00000453321.3	+	24	2614	c.2556G>A	c.(2554-2556)agG>agA	p.R852R	TMEM67_ENST00000409623.3_Splice_Site_p.R771R	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	852					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)	p.R852R(1)|p.R842R(1)		breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			CACTAATAAGGGTTTGTATAA	0.318																																																	2	Substitution - coding silent(2)	kidney(2)											56.0	54.0	55.0					8																	94821184		2203	4300	6503	SO:0001630	splice_region_variant	91147			BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.2556+1G>A	8.37:g.94821184G>A			B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Silent	SNP	ENST00000453321.3	37	CCDS6258.2																																																																																				0.318	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2		NM_153704	Silent
TMPRSS11D	9407	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	68692994	68692994	+	Missense_Mutation	SNP	C	C	T	rs370881465		TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr4:68692994C>T	ENST00000283916.6	-	8	1035	c.937G>A	c.(937-939)Gct>Act	p.A313T	TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.A196T|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	313	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.A313T(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TATTCTTGAGCGCCCCATCCT	0.378																																																	1	Substitution - Missense(1)	kidney(1)						C	THR/ALA	1,4405		0,1,2202	107.0	106.0	106.0		937	3.0	0.0	4		106	2,8596	2.2+/-6.3	0,2,4297	no	missense	TMPRSS11D	NM_004262.2	58	0,3,6499	TT,TC,CC		0.0233,0.0227,0.0231	benign	313/419	68692994	3,13001	2203	4299	6502	SO:0001583	missense	9407			AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.937G>A	4.37:g.68692994C>T	ENSP00000283916:p.Ala313Thr		Q08AF6	Missense_Mutation	SNP	ENST00000283916.6	37	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	C	9.351	1.065640	0.20067	2.27E-4	2.33E-4	ENSG00000153802	ENST00000283916;ENST00000545541	D;D	0.88124	-2.34;-2.34	5.38	2.99	0.34606	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.119039	0.38326	N	0.001729	T	0.66607	0.2806	N	0.12422	0.21	0.09310	N	1	P	0.48162	0.906	B	0.30716	0.119	T	0.60627	-0.7226	10	0.27785	T	0.31	.	7.1451	0.25579	0.6816:0.1897:0.0:0.1288	.	313	O60235	TM11D_HUMAN	T	313;196	ENSP00000283916:A313T;ENSP00000442045:A196T	ENSP00000283916:A313T	A	-	1	0	TMPRSS11D	68375589	0.952000	0.32445	0.012000	0.15200	0.002000	0.02628	1.927000	0.40094	0.446000	0.26666	-0.181000	0.13052	GCT		0.378	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3		NM_004262	
TOP1MT	116447	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	144411529	144411529	+	Silent	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr8:144411529G>A	ENST00000329245.4	-	3	385	c.351C>T	c.(349-351)gaC>gaT	p.D117D	TOP1MT_ENST00000521193.1_Silent_p.D19D|TOP1MT_ENST00000519148.1_Silent_p.D19D|TOP1MT_ENST00000523676.1_Silent_p.D19D	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	117					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)	p.D117D(1)		endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CCTTTCGCCAGTCATTGAAGA	0.567																																																	1	Substitution - coding silent(1)	kidney(1)											150.0	134.0	140.0					8																	144411529		2203	4300	6503	SO:0001819	synonymous_variant	116447			AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.351C>T	8.37:g.144411529G>A			B7ZAR5|E7ES89|Q86ST4|Q86V82	Silent	SNP	ENST00000329245.4	37	CCDS6400.1																																																																																				0.567	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3		NM_052963	
TRHDE	29953	broad.mit.edu;ucsc.edu	37	12	72956769	72956769	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr12:72956769T>A	ENST00000261180.4	+	9	1952	c.1856T>A	c.(1855-1857)tTt>tAt	p.F619Y	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	619					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.F619Y(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CAACAGCATTTTATCTATGAT	0.318																																																	1	Substitution - Missense(1)	kidney(1)											87.0	93.0	91.0					12																	72956769		2203	4295	6498	SO:0001583	missense	29953			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1856T>A	12.37:g.72956769T>A	ENSP00000261180:p.Phe619Tyr		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	T	32	5.144281	0.94603	.	.	ENSG00000072657	ENST00000261180	T	0.02158	4.42	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.11836	0.0288	M	0.71296	2.17	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.00157	-1.1977	10	0.56958	D	0.05	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	619	Q9UKU6	TRHDE_HUMAN	Y	619	ENSP00000261180:F619Y	ENSP00000261180:F619Y	F	+	2	0	TRHDE	71243036	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.306000	0.72810	2.371000	0.80710	0.533000	0.62120	TTT		0.318	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1		NM_013381	
TTC37	9652	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	94860289	94860289	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr5:94860289C>G	ENST00000358746.2	-	16	1630	c.1332G>C	c.(1330-1332)caG>caC	p.Q444H		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	444						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)		p.Q444H(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CAAGAGCTCTCTGAAAACTAA	0.368																																																	1	Substitution - Missense(1)	kidney(1)											85.0	85.0	85.0					5																	94860289		2203	4300	6503	SO:0001583	missense	9652			AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.1332G>C	5.37:g.94860289C>G	ENSP00000351596:p.Gln444His		O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854700	0.51376	.	.	ENSG00000198677	ENST00000358746;ENST00000514952	T;T	0.60672	0.17;0.17	5.78	1.9	0.25705	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.132175	0.52532	D	0.000063	T	0.66247	0.2770	L	0.57536	1.79	0.29963	N	0.819206	D;D	0.76494	0.999;0.998	D;D	0.70935	0.951;0.971	T	0.62709	-0.6797	10	0.59425	D	0.04	.	7.2502	0.26146	0.0:0.5719:0.2252:0.203	.	396;444	D6RCE2;Q6PGP7	.;TTC37_HUMAN	H	444;396	ENSP00000351596:Q444H;ENSP00000423742:Q396H	ENSP00000351596:Q444H	Q	-	3	2	TTC37	94886045	0.989000	0.36119	0.730000	0.30809	0.928000	0.56348	1.746000	0.38288	0.054000	0.16065	0.650000	0.86243	CAG		0.368	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1		NM_014639	
TUBGCP3	10426	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	113242269	113242269	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr13:113242269G>A	ENST00000261965.3	-	1	212	c.26C>T	c.(25-27)cCg>cTg	p.P9L	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.P9L	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	9					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.P9L(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CAGAACGTTCGGCGACTTCTG	0.736																																																	1	Substitution - Missense(1)	kidney(1)											29.0	28.0	29.0					13																	113242269		2203	4299	6502	SO:0001583	missense	10426			AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.26C>T	13.37:g.113242269G>A	ENSP00000261965:p.Pro9Leu		O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	g	34	5.376285	0.95945	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.37584	1.24;1.19	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.61286	0.2335	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	P;D;D;D	0.91635	0.874;0.999;0.999;0.999	T	0.67814	-0.5573	10	0.72032	D	0.01	-26.4943	17.023	0.86439	0.0:0.0:1.0:0.0	.	9;9;9;9	B4DYP7;Q96CW5-3;Q96CW5-2;Q96CW5	.;.;.;GCP3_HUMAN	L	9	ENSP00000261965:P9L;ENSP00000364821:P9L	ENSP00000261965:P9L	P	-	2	0	TUBGCP3	112290270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.001000	0.58596	0.479000	0.44913	CCG		0.736	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2		NM_006322	
USP9X	8239	broad.mit.edu;hgsc.bcm.edu	37	X	41088595	41088595	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chrX:41088595C>A	ENST00000324545.8	+	42	7784	c.7151C>A	c.(7150-7152)gCa>gAa	p.A2384E	USP9X_ENST00000378308.2_Missense_Mutation_p.A2384E	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2384					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.A2377E(1)|p.A2384E(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAAAAAAGAGCATACCAGTGT	0.363																																					Ovarian(172;1807 2695 35459 49286)												2	Substitution - Missense(2)	kidney(2)											39.0	36.0	37.0					X																	41088595		2096	4253	6349	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.7151C>A	X.37:g.41088595C>A	ENSP00000316357:p.Ala2384Glu		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742964	0.89573	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03745	3.83;3.82	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.18215	0.0437	M	0.78049	2.395	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.65233	0.933;0.859	T	0.00379	-1.1777	10	0.49607	T	0.09	.	18.153	0.89682	0.0:1.0:0.0:0.0	.	2384;2384	Q93008-1;Q93008	.;USP9X_HUMAN	E	2384	ENSP00000367558:A2384E;ENSP00000316357:A2384E	ENSP00000316357:A2384E	A	+	2	0	USP9X	40973539	1.000000	0.71417	0.974000	0.42286	0.995000	0.86356	7.356000	0.79445	2.311000	0.77944	0.600000	0.82982	GCA		0.363	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4		NM_004652	
VNN2	8875	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	133065439	133065439	+	Silent	SNP	C	C	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr6:133065439C>T	ENST00000326499.6	-	7	1687	c.1563G>A	c.(1561-1563)taG>taA	p.*521*	VNN2_ENST00000525270.1_Silent_p.*468*|VNN2_ENST00000525289.1_Silent_p.*300*	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	0					cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)	p.*521*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		AAGAGACGCCCTATAACATTA	0.368																																																	1	Substitution - coding silent(1)	kidney(1)											85.0	92.0	89.0					6																	133065439		2203	4300	6503	SO:0001819	synonymous_variant	8875			AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.1563G>A	6.37:g.133065439C>T			A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Silent	SNP	ENST00000326499.6	37	CCDS5161.1																																																																																				0.368	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			
VRK3	51231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50512604	50512604	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr19:50512604G>C	ENST00000599538.1	-	4	842	c.178C>G	c.(178-180)Cct>Gct	p.P60A	VRK3_ENST00000377011.2_Intron|VRK3_ENST00000594948.1_Missense_Mutation_p.P60A|VRK3_ENST00000594092.1_Missense_Mutation_p.P60A|VRK3_ENST00000593919.1_Missense_Mutation_p.P60A|VRK3_ENST00000601341.1_Intron|VRK3_ENST00000316763.3_Missense_Mutation_p.P60A|VRK3_ENST00000443401.2_Intron|VRK3_ENST00000601912.1_Intron|VRK3_ENST00000424804.2_5'UTR			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	60					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.P60A(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		ACTTTCTTAGGAGAGGTTTCA	0.488																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)												1	Substitution - Missense(1)	kidney(1)											148.0	139.0	142.0					19																	50512604		2203	4300	6503	SO:0001583	missense	51231			AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.178C>G	19.37:g.50512604G>C	ENSP00000469880:p.Pro60Ala		A6NEG5|A8KA53|Q502Y2|Q9P2V8	Missense_Mutation	SNP	ENST00000599538.1	37	CCDS12791.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369563	0.24771	.	.	ENSG00000105053	ENST00000316763;ENST00000424804	T	0.29142	1.58	4.54	-0.401	0.12407	.	0.596473	0.18151	N	0.150095	T	0.17365	0.0417	L	0.48362	1.52	0.22330	N	0.999199	P;B;B	0.37061	0.58;0.4;0.278	B;B;B	0.31946	0.138;0.121;0.084	T	0.12016	-1.0564	10	0.22706	T	0.39	-2.7533	2.9407	0.05829	0.381:0.0:0.4245:0.1945	.	60;60;60	E7EMG6;Q8IV63-2;Q8IV63	.;.;VRK3_HUMAN	A	60	ENSP00000324636:P60A	ENSP00000324636:P60A	P	-	1	0	VRK3	55204416	0.243000	0.23878	0.099000	0.21106	0.060000	0.15804	0.166000	0.16583	0.026000	0.15269	0.655000	0.94253	CCT		0.488	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464815.1		NM_016440	
WDR19	57728	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	39206807	39206807	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr4:39206807T>A	ENST00000399820.3	+	8	791	c.637T>A	c.(637-639)Ttt>Att	p.F213I	WDR19_ENST00000506503.1_Missense_Mutation_p.F213I|WDR19_ENST00000288634.7_Missense_Mutation_p.F53I	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	213					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)		p.F213I(1)		large_intestine(1)	1						AACTTTGTTTTTTTTAAATCT	0.358																																																	1	Substitution - Missense(1)	kidney(1)											89.0	77.0	81.0					4																	39206807		1822	4074	5896	SO:0001583	missense	57728			AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.637T>A	4.37:g.39206807T>A	ENSP00000382717:p.Phe213Ile		B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	37	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	T	11.29	1.595574	0.28445	.	.	ENSG00000157796	ENST00000399820;ENST00000288634;ENST00000506503;ENST00000399836	T;T;T	0.61980	3.66;0.06;3.66	5.65	3.95	0.45737	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.057116	0.64402	D	0.000001	T	0.39655	0.1086	N	0.05078	-0.115	0.27423	N	0.954243	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.003	T	0.32877	-0.9890	10	0.52906	T	0.07	-7.4625	10.6487	0.45636	0.0:0.7933:0.0:0.2067	.	213;213	Q8NEZ3;D6R9P6	WDR19_HUMAN;.	I	213;53;213;212	ENSP00000382717:F213I;ENSP00000288634:F53I;ENSP00000423491:F213I	ENSP00000288634:F53I	F	+	1	0	WDR19	38883202	1.000000	0.71417	0.985000	0.45067	0.025000	0.11179	2.776000	0.47709	0.744000	0.32741	-1.059000	0.02297	TTT		0.358	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			
WDR81	124997	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	1634217	1634217	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr17:1634217A>T	ENST00000409644.1	+	3	3944	c.3944A>T	c.(3943-3945)tAc>tTc	p.Y1315F	WDR81_ENST00000437219.2_Missense_Mutation_p.Y112F|WDR81_ENST00000419248.1_Missense_Mutation_p.Y88F|WDR81_ENST00000309182.5_Missense_Mutation_p.Y264F|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_5'UTR|WDR81_ENST00000545662.1_Missense_Mutation_p.T10S	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1315					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.Y1315F(1)|p.Y264F(1)|p.Y112F(1)		cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACCTACCAGTACCTGCCCTAC	0.667																																																	3	Substitution - Missense(3)	kidney(3)											66.0	66.0	66.0					17																	1634217		2203	4300	6503	SO:0001583	missense	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.3944A>T	17.37:g.1634217A>T	ENSP00000386609:p.Tyr1315Phe		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	CCDS54062.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	36|36	5.652831|5.652831	0.96724|0.96724	.|.	.|.	ENSG00000167716|ENSG00000167716	ENST00000545662|ENST00000455636;ENST00000437219;ENST00000309182;ENST00000419248;ENST00000409644;ENST00000354680	T|T;T;T;T	0.53640|0.73152	0.61|1.11;0.95;1.17;-0.72	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83815|0.83815	0.5336|0.5336	M|M	0.75085|0.75085	2.285|2.285	0.31991|0.31991	N|N	0.604627|0.604627	P|D;D;D	0.52692|0.76494	0.955|0.999;0.997;0.999	P|D;D;D	0.48952|0.80764	0.596|0.991;0.985;0.994	D|D	0.87195|0.87195	0.2237|0.2237	9|10	0.02654|0.72032	T|D	1|0.01	.|.	16.1864|16.1864	0.81955|0.81955	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	10|112;442;264	B7Z6V3|B7Z579;Q8TEL1;Q562E7	.|.;.;WDR81_HUMAN	S|F	10|112;112;264;88;1315;66	ENSP00000442726:T10S|ENSP00000391074:Y112F;ENSP00000312074:Y264F;ENSP00000407845:Y88F;ENSP00000386609:Y1315F	ENSP00000442726:T10S|ENSP00000312074:Y264F	T|Y	+|+	1|2	0|0	WDR81|WDR81	1580967|1580967	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.193000|9.193000	0.94954|0.94954	2.225000|2.225000	0.72522|0.72522	0.533000|0.533000	0.62120|0.62120	ACC|TAC		0.667	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2		NM_152348	
ZCCHC3	85364	hgsc.bcm.edu	37	20	278733	278734	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr20:278733_278734GC>AT	ENST00000382352.3	+	1	997_998	c.506_507GC>AT	c.(505-507)cGC>cAT	p.R169H		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	169							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			TTCCTCGTCCGCATCTGTTTCC	0.733																																																	0																																										SO:0001583	missense	85364			AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315		"""Zinc fingers, CCHC domain containing"""	16230	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 99"""	C20orf99			Standard	NM_033089		Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	Exception_encountered	20.37:g.278733_278734delinsAT	ENSP00000371789:p.Arg169His		Q3B7J3|Q6NT79	Missense_Mutation|Silent	SNP	ENST00000382352.3	37	CCDS42844.1																																																																																				0.733	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1			
ZDHHC16	84287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	99213291	99213292	+	Missense_Mutation	DNP	GC	GC	TA			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr10:99213291_99213292GC>TA	ENST00000370854.3	+	6	750_751	c.561_562GC>TA	c.(559-564)tgGCta>tgTAta	p.187_188WL>CI	ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.122_123WL>CI|ZDHHC16_ENST00000393760.1_Missense_Mutation_p.187_188WL>CI|ZDHHC16_ENST00000370846.4_Intron|ZDHHC16_ENST00000352634.4_Missense_Mutation_p.187_188WL>CI|ZDHHC16_ENST00000370842.2_Missense_Mutation_p.187_188WL>CI|ZDHHC16_ENST00000353979.3_Intron	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	187					apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.W187>?(1)|p.L188I(1)|p.W187C(1)		kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		AACCAGCCTGGCTAAACAATTG	0.475																																																	3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	84287			AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"""Zinc fingers, DHHC-type"""	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	Exception_encountered	10.37:g.99213291_99213292delinsTA	ENSP00000359891:p.W187_L188delinsCI		D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	Missense_Mutation	SNP	ENST00000370854.3	37	CCDS7460.1																																																																																				0.475	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049658.2		NM_032327	
ZNF561	93134	broad.mit.edu;hgsc.bcm.edu	37	19	9724746	9724746	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr19:9724746G>A	ENST00000302851.3	-	5	638	c.275C>T	c.(274-276)tCa>tTa	p.S92L	ZNF561_ENST00000424629.1_Missense_Mutation_p.S23L|ZNF561_ENST00000354661.4_Intron|ZNF561_ENST00000326044.5_Intron|ZNF561_ENST00000495503.1_5'UTR	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	92	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.S23L(1)|p.S92L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						CTGCTGAAGTGATGACCGTTT	0.318																																																	2	Substitution - Missense(2)	kidney(2)											131.0	131.0	131.0					19																	9724746		2203	4300	6503	SO:0001583	missense	93134			AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"""Zinc fingers, C2H2-type"", ""-"""	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.275C>T	19.37:g.9724746G>A	ENSP00000303915:p.Ser92Leu		B4E2Q8|Q6PJS0	Missense_Mutation	SNP	ENST00000302851.3	37	CCDS12216.2	.	.	.	.	.	.	.	.	.	.	G	7.898	0.733722	0.15574	.	.	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000444611	T;T;T	0.08193	3.12;5.79;5.79	1.69	0.528	0.17089	Krueppel-associated box (3);	.	.	.	.	T	0.08980	0.0222	N	0.20357	0.565	0.09310	N	1	D	0.54601	0.967	P	0.60789	0.879	T	0.21690	-1.0238	9	0.08837	T	0.75	.	5.6974	0.17863	0.0:0.3454:0.6546:0.0	.	92	Q8N587	ZN561_HUMAN	L	23;92;98	ENSP00000393074:S23L;ENSP00000303915:S92L;ENSP00000392013:S98L	ENSP00000303915:S92L	S	-	2	0	ZNF561	9585746	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	-0.076000	0.11412	0.234000	0.21139	0.313000	0.20887	TCA		0.318	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347272.2		NM_152289	
ZNF492	57615	broad.mit.edu	37	19	22847963	22847963	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr19:22847963A>T	ENST00000456783.2	+	4	1736	c.1492A>T	c.(1492-1494)Att>Ttt	p.I498F	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	498					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.I498F(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ACATAAGATGATTCATACTGG	0.353																																																	1	Substitution - Missense(1)	kidney(1)											12.0	16.0	15.0					19																	22847963		1842	4125	5967	SO:0001583	missense	57615			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1492A>T	19.37:g.22847963A>T	ENSP00000413660:p.Ile498Phe		Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	7.571	0.666770	0.14710	.	.	ENSG00000229676	ENST00000456783	T	0.07567	3.18	1.06	1.06	0.20224	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21307	0.0513	M	0.76433	2.335	0.27487	N	0.952404	D	0.63046	0.992	D	0.63703	0.917	T	0.06127	-1.0844	9	0.66056	D	0.02	.	5.6717	0.17725	1.0:0.0:0.0:0.0	.	498	Q9P255	ZN492_HUMAN	F	498	ENSP00000413660:I498F	ENSP00000413660:I498F	I	+	1	0	ZNF492	22639803	0.000000	0.05858	0.673000	0.29887	0.706000	0.40770	-0.780000	0.04654	0.129000	0.18514	0.128000	0.15822	ATT		0.353	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1		NM_020855	
ZNF677	342926	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	53740381	53740381	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5168-01A-01D-1421-08	TCGA-BP-5168-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9930560d-22e6-43aa-a6f0-02515f7af8f0	e250a536-2616-4483-8fd8-ceb70790d262	g.chr19:53740381G>C	ENST00000598513.1	-	5	1749	c.1599C>G	c.(1597-1599)caC>caG	p.H533Q	ZNF677_ENST00000333952.4_Missense_Mutation_p.H533Q	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	533					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H533Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		GTATTTTCTGGTGTCTAGTGA	0.318																																																	1	Substitution - Missense(1)	kidney(1)											134.0	127.0	130.0					19																	53740381		2203	4299	6502	SO:0001583	missense	342926			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.1599C>G	19.37:g.53740381G>C	ENSP00000469391:p.His533Gln			Missense_Mutation	SNP	ENST00000598513.1	37	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	A	12.10	1.836855	0.32421	.	.	ENSG00000197928	ENST00000333952	T	0.77489	-1.1	2.12	1.1	0.20463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35207	N	0.003365	D	0.86468	0.5940	M	0.92077	3.27	0.23862	N	0.99663	D	0.76494	0.999	P	0.62298	0.9	T	0.77446	-0.2585	10	0.87932	D	0	.	5.5362	0.17013	0.7129:0.0:0.2871:0.0	.	533	Q86XU0	ZN677_HUMAN	Q	533	ENSP00000334394:H533Q	ENSP00000334394:H533Q	H	-	3	2	ZNF677	58432193	0.450000	0.25697	0.391000	0.26233	0.866000	0.49608	0.540000	0.23191	-0.068000	0.12953	-0.332000	0.08345	CAC		0.318	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1		NM_182609	
