#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ABCC1	4363	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	16108476	16108476	+	Silent	SNP	C	C	T			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr16:16108476C>T	ENST00000399410.3	+	4	655	c.480C>T	c.(478-480)gcC>gcT	p.A160A	ABCC1_ENST00000351154.5_Silent_p.A160A|ABCC1_ENST00000349029.5_Silent_p.A160A|ABCC1_ENST00000399408.2_Silent_p.A160A|ABCC1_ENST00000346370.5_Silent_p.A160A|ABCC1_ENST00000345148.5_Silent_p.A160A	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	160					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.A160A(1)		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)	TTATGACAGCCTTAAAAGAGG	0.522																																																	1	Substitution - coding silent(1)	kidney(1)											117.0	112.0	114.0					16																	16108476		1997	4168	6165	SO:0001819	synonymous_variant	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.480C>T	16.37:g.16108476C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	CCDS42122.1																																																																																				0.522	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1		NM_004996	
ACTN2	88	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	236924371	236924371	+	Silent	SNP	C	C	A	rs202204431		TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr1:236924371C>A	ENST00000366578.4	+	20	2590	c.2424C>A	c.(2422-2424)acC>acA	p.T808T	ACTN2_ENST00000542672.1_Silent_p.T808T|ACTN2_ENST00000546208.1_Silent_p.T302T	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	808	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.T808T(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GGCAAGGCACCGTCACCTTCC	0.542																																																	1	Substitution - coding silent(1)	kidney(1)											176.0	144.0	155.0					1																	236924371		2203	4300	6503	SO:0001819	synonymous_variant	88			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.2424C>A	1.37:g.236924371C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	ENST00000366578.4	37	CCDS1613.1																																																																																				0.542	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1		NM_001103	
AHNAK2	113146	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	105418040	105418040	+	Nonsense_Mutation	SNP	G	G	A	rs374370326		TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr14:105418040G>A	ENST00000333244.5	-	7	3867	c.3748C>T	c.(3748-3750)Cag>Tag	p.Q1250*	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1250						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.Q1250*(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTAGGCATCTGCACCTTGGGC	0.622																																																	1	Substitution - Nonsense(1)	kidney(1)											86.0	70.0	76.0					14																	105418040		1800	3238	5038	SO:0001587	stop_gained	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3748C>T	14.37:g.105418040G>A	ENSP00000353114:p.Gln1250*	Somatic		WXS	Illumina HiSeq	Phase_I	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Nonsense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	39	7.608854	0.98387	.	.	ENSG00000185567	ENST00000333244	.	.	.	4.42	-1.38	0.09027	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.9814	0.30185	0.0:0.3331:0.2406:0.4263	.	.	.	.	X	1250	.	ENSP00000353114:Q1250X	Q	-	1	0	AHNAK2	104489085	0.000000	0.05858	0.060000	0.19600	0.017000	0.09413	-0.316000	0.08071	-0.245000	0.09625	-1.621000	0.00791	CAG		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420	
ANK2	287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	114277953	114277953	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr4:114277953C>T	ENST00000357077.4	+	38	8232	c.8179C>T	c.(8179-8181)Cag>Tag	p.Q2727*	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Nonsense_Mutation_p.Q2694*|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2727					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.Q2727*(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGAAGATACTCAGGAAGAGCC	0.423																																																	1	Substitution - Nonsense(1)	kidney(1)											73.0	73.0	73.0					4																	114277953		2203	4300	6503	SO:0001587	stop_gained	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8179C>T	4.37:g.114277953C>T	ENSP00000349588:p.Gln2727*	Somatic		WXS	Illumina HiSeq	Phase_I	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Nonsense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	47	13.584009	0.99751	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	.	.	.	5.88	3.22	0.36961	.	0.904573	0.09315	N	0.819085	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5672	0.17177	0.218:0.4841:0.2329:0.065	.	.	.	.	X	2727;2694	.	.	Q	+	1	0	ANK2	114497402	0.012000	0.17670	0.001000	0.08648	0.014000	0.08584	1.400000	0.34577	0.375000	0.24679	-0.165000	0.13383	CAG		0.423	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2		NM_001148	
ANK3	288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	61815520	61815520	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr10:61815520A>T	ENST00000280772.2	-	42	13152	c.12961T>A	c.(12961-12963)Tgt>Agt	p.C4321S	ANK3_ENST00000503366.1_Missense_Mutation_p.C1812S|ANK3_ENST00000373827.2_Missense_Mutation_p.C1805S|ANK3_ENST00000355288.2_Missense_Mutation_p.C945S|RP11-388P9.2_ENST00000414383.1_RNA	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4321					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.C4321S(1)|p.C945S(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACAGGCACACAGGGTTTAGTC	0.463																																																	2	Substitution - Missense(2)	kidney(2)											278.0	261.0	267.0					10																	61815520		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.12961T>A	10.37:g.61815520A>T	ENSP00000280772:p.Cys4321Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	A	15.22	2.769971	0.49680	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000373820;ENST00000502769;ENST00000355288;ENST00000503366;ENST00000395299;ENST00000373817	T;T;T;T;T;T	0.72725	0.17;0.09;-0.68;1.16;0.79;0.07	6.03	6.03	0.97812	.	0.162420	0.29646	N	0.011570	T	0.45236	0.1332	N	0.03608	-0.345	0.80722	D	1	B;B;B;B;B;B;B	0.27932	0.0;0.0;0.0;0.194;0.0;0.0;0.002	B;B;B;B;B;B;B	0.24541	0.0;0.0;0.0;0.054;0.001;0.0;0.001	T	0.52631	-0.8550	10	0.02654	T	1	.	16.5602	0.84551	1.0:0.0:0.0:0.0	.	1812;945;1805;4321;1046;945;344	E9PE32;A8KA62;Q5CZH9;Q12955;F5GXK0;B1AQT2;B1AQT0	.;.;.;ANK3_HUMAN;.;.;.	S	4321;1805;403;93;945;1812;1791;1046	ENSP00000280772:C4321S;ENSP00000362933:C1805S;ENSP00000362926:C403S;ENSP00000423057:C93S;ENSP00000347436:C945S;ENSP00000425236:C1812S	ENSP00000280772:C4321S	C	-	1	0	ANK3	61485526	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.865000	0.56033	2.313000	0.78055	0.454000	0.30748	TGT		0.463	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4		NM_020987	
C11orf87	399947	hgsc.bcm.edu	37	11	109294760	109294761	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr11:109294760_109294761insG	ENST00000327419.6	+	2	804_805	c.401_402insG	c.(400-405)cagcccfs	p.P135fs	RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	135						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						CTGGAGAGGCAGCCCCGGGACT	0.708																																																	0																																										SO:0001589	frameshift_variant	399947			AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"""neuronal integral membrane protein 1"""					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.402dupG	11.37:g.109294761_109294761dupG	ENSP00000331581:p.Pro135fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4E169	Frame_Shift_Ins	INS	ENST00000327419.6	37	CCDS31672.1																																																																																				0.708	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1		NM_207645	
TDRP	157695	broad.mit.edu	37	8	442623	442623	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr8:442623G>A	ENST00000324079.6	-	3	574	c.334C>T	c.(334-336)Cca>Tca	p.P112S	TDRP_ENST00000427263.2_Missense_Mutation_p.P112S|TDRP_ENST00000524229.1_5'Flank|TDRP_ENST00000523656.1_Missense_Mutation_p.P112S			Q86YL5	TDRP_HUMAN	testis development related protein	112					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P112S(1)									GCAAGTTTTGGAGGCTCCCAA	0.478																																																	1	Substitution - Missense(1)	kidney(1)											76.0	83.0	81.0					8																	442623		1856	4097	5953	SO:0001583	missense	157695			AY194292	CCDS47759.1, CCDS59090.1	8p23.3	2013-06-03	2013-06-03	2013-06-03	ENSG00000180190	ENSG00000180190			26951	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 42"""	C8orf42		20170638	Standard	NM_175075		Approved	INM01, TDRP1, TDRP2		Q86YL5	OTTHUMG00000163593	ENST00000324079.6:c.334C>T	8.37:g.442623G>A	ENSP00000315111:p.Pro112Ser	Somatic		WXS	Illumina GAIIx	Phase_I	B6VF03|B9EG53	Missense_Mutation	SNP	ENST00000324079.6	37	CCDS47759.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677681	0.88445	.	.	ENSG00000180190	ENST00000324079;ENST00000523656;ENST00000427263	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.78246	0.4253	L	0.61218	1.895	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.78445	-0.2201	9	0.87932	D	0	-27.4368	18.1586	0.89701	0.0:0.0:1.0:0.0	.	112;112	B6VF03;Q86YL5	.;CH042_HUMAN	S	112	.	ENSP00000315111:P112S	P	-	1	0	C8orf42	432623	1.000000	0.71417	0.976000	0.42696	0.932000	0.56968	6.208000	0.72165	2.890000	0.99128	0.655000	0.94253	CCA		0.478	TDRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374442.1		NM_175075	
CACNA1S	779	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	201009799	201009799	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr1:201009799A>T	ENST00000362061.3	-	42	5403	c.5177T>A	c.(5176-5178)cTg>cAg	p.L1726Q	CACNA1S_ENST00000367338.3_Missense_Mutation_p.L1707Q|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1726					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L1726Q(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTCTGGGTCAGCAGTCCCTT	0.617																																																	1	Substitution - Missense(1)	kidney(1)											56.0	51.0	53.0					1																	201009799		2203	4300	6503	SO:0001583	missense	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.5177T>A	1.37:g.201009799A>T	ENSP00000355192:p.Leu1726Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	11.41	1.630153	0.28978	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96619	-4.07;-4.01	4.79	-5.3	0.02738	.	4.183880	0.00397	N	0.000042	D	0.87669	0.6235	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.81077	-0.1096	10	0.27785	T	0.31	.	1.3313	0.02136	0.3332:0.2596:0.2793:0.1278	.	1726	Q13698	CAC1S_HUMAN	Q	1726;1707	ENSP00000355192:L1726Q;ENSP00000356307:L1707Q	ENSP00000355192:L1726Q	L	-	2	0	CACNA1S	199276422	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.268000	0.08607	-0.877000	0.04012	0.477000	0.44152	CTG		0.617	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1		NM_000069	
CDC42BPA	8476	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	227227835	227227835	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr1:227227835C>A	ENST00000366769.3	-	23	4382	c.3091G>T	c.(3091-3093)Gaa>Taa	p.E1031*	CDC42BPA_ENST00000366767.3_Nonsense_Mutation_p.E950*|CDC42BPA_ENST00000535525.1_Nonsense_Mutation_p.E1011*|CDC42BPA_ENST00000366766.2_Nonsense_Mutation_p.E1066*|CDC42BPA_ENST00000334218.5_Nonsense_Mutation_p.E1031*|CDC42BPA_ENST00000366764.2_Nonsense_Mutation_p.E1003*|CDC42BPA_ENST00000366765.3_Nonsense_Mutation_p.E1044*	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.E1066*(1)|p.E950*(1)|p.E1031*(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TTCTTACCTTCACATGAACAG	0.338																																																	3	Substitution - Nonsense(3)	kidney(3)											105.0	99.0	101.0					1																	227227835		2203	4300	6503	SO:0001587	stop_gained	8476			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.3091G>T	1.37:g.227227835C>A	ENSP00000355731:p.Glu1031*	Somatic		WXS	Illumina HiSeq	Phase_I		Nonsense_Mutation	SNP	ENST00000366769.3	37	CCDS1558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.146392|5.146392	0.94603|0.94603	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765|ENST00000448940;ENST00000442054;ENST00000441725	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.59425|.	D|.	0.04|.	.|.	19.622|19.622	0.95660|0.95660	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1031;950;1031;1066;1003;346;1011;1044|233;359;255	.|.	ENSP00000335341:E1031X|.	E|X	-|-	1|2	0|2	CDC42BPA|CDC42BPA	225294458|225294458	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.676000|0.676000	0.39594|0.39594	7.667000|7.667000	0.83888|0.83888	2.702000|2.702000	0.92279|0.92279	0.591000|0.591000	0.81541|0.81541	GAA|TGA		0.338	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1		NM_014826	
CDH20	28316	broad.mit.edu;hgsc.bcm.edu	37	18	59221899	59221899	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr18:59221899G>A	ENST00000262717.4	+	12	2775	c.2377G>A	c.(2377-2379)Gcg>Acg	p.A793T	CDH20_ENST00000538374.1_Missense_Mutation_p.A793T|CDH20_ENST00000536675.2_Missense_Mutation_p.A793T			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	793					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A793T(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GCTCTACGGGGCGTCGGAGGG	0.692																																																	1	Substitution - Missense(1)	kidney(1)											5.0	6.0	6.0					18																	59221899		2036	4034	6070	SO:0001583	missense	28316			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.2377G>A	18.37:g.59221899G>A	ENSP00000262717:p.Ala793Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958500	0.53400	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.76578	-1.03;-1.03;-1.03	5.64	5.64	0.86602	Cadherin, cytoplasmic domain (1);	0.219893	0.47455	D	0.000226	T	0.65719	0.2718	N	0.16130	0.375	0.43890	D	0.996517	B	0.02656	0.0	B	0.06405	0.002	T	0.59182	-0.7502	10	0.39692	T	0.17	.	18.2467	0.89988	0.0:0.0:1.0:0.0	.	793	Q9HBT6	CAD20_HUMAN	T	793	ENSP00000444767:A793T;ENSP00000442226:A793T;ENSP00000262717:A793T	ENSP00000262717:A793T	A	+	1	0	CDH20	57372879	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.679000	0.74513	2.826000	0.97356	0.561000	0.74099	GCG		0.692	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2		NM_031891	
CHMP7	91782	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	23118090	23118090	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr8:23118090A>C	ENST00000397677.1	+	11	1988	c.1340A>C	c.(1339-1341)gAa>gCa	p.E447A	CHMP7_ENST00000313219.7_Missense_Mutation_p.E447A	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	447					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)	p.E447A(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGGCAATTGGAACCGACTCTA	0.423																																																	1	Substitution - Missense(1)	kidney(1)											115.0	112.0	113.0					8																	23118090		2203	4300	6503	SO:0001583	missense	91782			BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"""Charged multivesicular body proteins"""	28439	protein-coding gene	gene with protein product		611130	"""CHMP family, member 7"""			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.1340A>C	8.37:g.23118090A>C	ENSP00000380794:p.Glu447Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Missense_Mutation	SNP	ENST00000397677.1	37	CCDS6040.1	.	.	.	.	.	.	.	.	.	.	A	18.12	3.553302	0.65425	.	.	ENSG00000147457	ENST00000397677;ENST00000313219	T;T	0.61510	0.1;0.1	6.07	3.61	0.41365	.	0.470194	0.24748	N	0.035935	T	0.39279	0.1072	N	0.24115	0.695	0.38899	D	0.957275	B	0.25667	0.131	B	0.24541	0.054	T	0.21008	-1.0258	10	0.44086	T	0.13	-6.4291	6.4841	0.22079	0.6195:0.304:0.0765:0.0	.	447	Q8WUX9	CHMP7_HUMAN	A	447	ENSP00000380794:E447A;ENSP00000324491:E447A	ENSP00000324491:E447A	E	+	2	0	CHMP7	23174035	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.013000	0.40942	0.491000	0.27793	-0.313000	0.08912	GAA		0.423	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1		NM_152272	
CHRM4	1132	broad.mit.edu	37	11	46407571	46407571	+	Silent	SNP	C	C	A	rs202091776		TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr11:46407571C>A	ENST00000433765.2	-	1	536	c.537G>T	c.(535-537)acG>acT	p.T179T		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	179					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.T179T(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TGTCGGGCACCGTCCGCTTAC	0.582																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)												1	Substitution - coding silent(1)	kidney(1)											37.0	42.0	41.0					11																	46407571		2164	4286	6450	SO:0001819	synonymous_variant	1132			M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1953	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 4"""	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.537G>T	11.37:g.46407571C>A		Somatic		WXS	Illumina GAIIx	Phase_I	B2RPP4|Q0VD60|Q4VBK7	Silent	SNP	ENST00000433765.2	37	CCDS44581.1																																																																																				0.582	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1		NM_000741	
COL6A6	131873	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	130289957	130289957	+	Silent	SNP	C	C	T			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr3:130289957C>T	ENST00000358511.6	+	6	2728	c.2697C>T	c.(2695-2697)ttC>ttT	p.F899F	COL6A6_ENST00000453409.2_Silent_p.F899F	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	899	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.F899F(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACCACATGTTCACTGAAGCCC	0.537																																																	1	Substitution - coding silent(1)	kidney(1)											42.0	44.0	44.0					3																	130289957		1893	4099	5992	SO:0001819	synonymous_variant	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2697C>T	3.37:g.130289957C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	CCDS46911.1																																																																																				0.537	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5		NM_001102608	
CYP3A7	1551	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99313483	99313483	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr7:99313483C>A	ENST00000336374.2	-	7	570	c.568G>T	c.(568-570)Gga>Tga	p.G190*	AC069294.1_ENST00000408560.1_RNA	NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	190					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)	p.G190*(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	ATGCTCACTCCAAATGATGTG	0.423																																																	1	Substitution - Nonsense(1)	kidney(1)											192.0	172.0	179.0					7																	99313483		2203	4300	6503	SO:0001587	stop_gained	1551			AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.568G>T	7.37:g.99313483C>A	ENSP00000337450:p.Gly190*	Somatic		WXS	Illumina HiSeq	Phase_I	A4D288|Q9H241	Nonsense_Mutation	SNP	ENST00000336374.2	37	CCDS5673.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698995	0.68501	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	.	.	.	4.1	4.1	0.47936	.	0.046375	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.1324	0.31035	0.0:0.8848:0.0:0.1152	.	.	.	.	X	190	.	ENSP00000292414:G190X	G	-	1	0	CYP3A7	99151419	1.000000	0.71417	0.987000	0.45799	0.695000	0.40330	1.920000	0.40025	1.967000	0.57214	0.555000	0.69702	GGA		0.423	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1			
DCHS2	54798	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	155253991	155253991	+	Silent	SNP	C	C	T			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr4:155253991C>T	ENST00000357232.4	-	9	1871	c.1872G>A	c.(1870-1872)tcG>tcA	p.S624S	DCHS2_ENST00000507542.1_5'Flank|DCHS2_ENST00000339452.1_Silent_p.S1123S	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	624	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S1123S(1)|p.S624S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGGTTCCAGCGAGTACCTAA	0.527																																																	2	Substitution - coding silent(2)	kidney(2)											51.0	52.0	51.0					4																	155253991		2203	4300	6503	SO:0001819	synonymous_variant	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1872G>A	4.37:g.155253991C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	CCDS3785.1																																																																																				0.527	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2		NM_001142552	
DDX5	1655	hgsc.bcm.edu	37	17	62500099	62500102	+	Splice_Site	DEL	ACAG	ACAG	-			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	ACAG	ACAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr17:62500099_62500102delACAG	ENST00000225792.5	-	4	841_843	c.440_442delCTGT	c.(439-444)tctgta>tta	p.SV147fs	DDX5_ENST00000580026.1_5'Flank|CEP95_ENST00000556440.2_5'Flank|DDX5_ENST00000578804.1_Splice_Site_p.SV147fs|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000450599.2_Intron	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	147	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCCAAACTTACAGACAATGTTTT	0.397			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)			Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	0																																										SO:0001630	splice_region_variant	1655			AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.441+1CTGT>-	17.37:g.62500099_62500102delACAG		Somatic		WXS	Illumina HiSeq	Phase_I	B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Frame_Shift_Del	DEL	ENST00000225792.5	37	CCDS11659.1																																																																																				0.397	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1		NM_004396	Frame_Shift_Del
DLG5	9231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	79553777	79553777	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr10:79553777C>G	ENST00000372391.2	-	31	5650	c.5645G>C	c.(5644-5646)aGg>aCg	p.R1882T	RP13-39P12.3_ENST00000434097.2_RNA|RP13-39P12.3_ENST00000601701.1_RNA|DLG5_ENST00000372388.2_Missense_Mutation_p.R1542T|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1882	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)	p.R1882T(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGTGAAGTACCTGCTGTACTC	0.577																																																	1	Substitution - Missense(1)	kidney(1)											229.0	182.0	198.0					10																	79553777		2203	4300	6503	SO:0001583	missense	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.5645G>C	10.37:g.79553777C>G	ENSP00000361467:p.Arg1882Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702525	0.68501	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.41400	1.0;1.0;1.0	5.72	0.839	0.18907	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.178894	0.27420	N	0.019453	T	0.36303	0.0962	L	0.36672	1.1	0.35633	D	0.810343	B;P	0.45768	0.173;0.866	B;P	0.48598	0.139;0.583	T	0.43605	-0.9381	10	0.59425	D	0.04	.	7.4516	0.27242	0.0:0.3324:0.0:0.6676	.	1882;1542	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	T	1882;843;1542	ENSP00000361467:R1882T;ENSP00000394797:R843T;ENSP00000361464:R1542T	ENSP00000361464:R1542T	R	-	2	0	DLG5	79223783	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.939000	0.40213	0.254000	0.21573	0.655000	0.94253	AGG		0.577	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			
DNAH3	55567	hgsc.bcm.edu;ucsc.edu	37	16	20966362	20966362	+	Missense_Mutation	SNP	T	T	A	rs34051490	byFrequency	TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr16:20966362T>A	ENST00000261383.3	-	55	10843	c.10844A>T	c.(10843-10845)tAt>tTt	p.Y3615F	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3615	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.Y3615F(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTCTGATGGATAGCTGGTTAG	0.438																																																	2	Substitution - Missense(2)	kidney(2)											96.0	93.0	94.0					16																	20966362		2201	4300	6501	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10844A>T	16.37:g.20966362T>A	ENSP00000261383:p.Tyr3615Phe	Somatic		WXS	Illumina HiSeq	Phase_I	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.956748	0.73902	.	.	ENSG00000158486	ENST00000261383	T	0.08634	3.07	5.43	5.43	0.79202	Dynein heavy chain (1);	0.151822	0.44688	D	0.000424	T	0.31136	0.0787	M	0.89478	3.035	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.10359	-1.0633	10	0.33940	T	0.23	.	11.4825	0.50333	0.0:0.0:0.1501:0.8499	.	3615	Q8TD57	DYH3_HUMAN	F	3615	ENSP00000261383:Y3615F	ENSP00000261383:Y3615F	Y	-	2	0	DNAH3	20873863	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.910000	0.69931	2.058000	0.61347	0.533000	0.62120	TAT		0.438	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539	
FANCF	2188	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	22646844	22646844	+	Silent	SNP	C	C	T			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr11:22646844C>T	ENST00000327470.3	-	1	543	c.513G>A	c.(511-513)ctG>ctA	p.L171L	AC103801.2_ENST00000428556.2_5'Flank	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	171					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)	p.L171L(1)		kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						GCAGACGCTCCAGCAGCAGCT	0.612			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											yes	Rec		Fanconi anaemia F	11	11p15	2188	"""Fanconi anemia, complementation group F"""		L	1	Substitution - coding silent(1)	kidney(1)											70.0	86.0	80.0					11																	22646844		2203	4299	6502	SO:0001819	synonymous_variant	2188	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"""Fanconi anemia, complementation groups"""	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.513G>A	11.37:g.22646844C>T		Somatic	757	WXS	Illumina HiSeq	Phase_I	Q52LM0	Silent	SNP	ENST00000327470.3	37	CCDS7857.1																																																																																				0.612	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2		NM_022725	
FAT3	120114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	92087535	92087535	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr11:92087535G>A	ENST00000298047.6	+	1	2274	c.2257G>A	c.(2257-2259)Gcc>Acc	p.A753T	FAT3_ENST00000409404.2_Missense_Mutation_p.A753T|FAT3_ENST00000541502.1_Missense_Mutation_p.A753T|FAT3_ENST00000525166.1_Missense_Mutation_p.A603T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	753	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A753T(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGCCTATGATGCCGACTCTGG	0.403										TCGA Ovarian(4;0.039)																																							2	Substitution - Missense(2)	kidney(2)											133.0	136.0	135.0					11																	92087535		1911	4128	6039	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2257G>A	11.37:g.92087535G>A	ENSP00000298047:p.Ala753Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	7.200	0.593198	0.13875	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.77	2.75	0.32379	.	.	.	.	.	T	0.50086	0.1595	M	0.80183	2.485	0.35727	D	0.817625	P	0.36465	0.554	B	0.34242	0.178	T	0.54476	-0.8288	9	0.13853	T	0.58	.	11.7719	0.51965	0.0:0.4403:0.4335:0.1262	.	753	Q8TDW7-3	.	T	753;753;753;603	ENSP00000298047:A753T;ENSP00000387040:A753T;ENSP00000443786:A753T;ENSP00000432586:A603T	ENSP00000298047:A753T	A	+	1	0	FAT3	91727183	1.000000	0.71417	0.673000	0.29887	0.941000	0.58515	4.412000	0.59787	0.278000	0.22164	0.467000	0.42956	GCC		0.403	FAT3-201	KNOWN	basic	protein_coding	protein_coding			NM_001008781	
GALNS	2588	broad.mit.edu	37	16	88893182	88893182	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr16:88893182G>A	ENST00000268695.5	-	10	1155	c.1067C>T	c.(1066-1068)aCg>aTg	p.T356M	AC092384.1_ENST00000593752.1_5'Flank|GALNS_ENST00000542788.1_Missense_Mutation_p.T281M	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	356	Catalytic domain.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)	p.T356M(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		GCTGGGCGGCGTCAGGCCCGC	0.657																																					GBM(129;1929 2344 25209 33204)												1	Substitution - Missense(1)	kidney(1)											33.0	30.0	31.0					16																	88893182		2191	4293	6484	SO:0001583	missense	2588			D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"""Arylsulfatase family"""	4122	protein-coding gene	gene with protein product	"""Morquio syndrome"", ""mucopolysaccharidosis type IVA"""	612222	"""galactosamine (N-acetyl)-6-sulfate sulfatase"""			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.1067C>T	16.37:g.88893182G>A	ENSP00000268695:p.Thr356Met	Somatic		WXS	Illumina GAIIx	Phase_I	Q86VK3	Missense_Mutation	SNP	ENST00000268695.5	37	CCDS10970.1	.	.	.	.	.	.	.	.	.	.	G	8.782	0.928431	0.18131	.	.	ENSG00000141012	ENST00000268695;ENST00000542788	D;D	0.94000	-3.33;-3.33	5.43	3.16	0.36331	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.998292	0.08115	N	0.995603	D	0.92443	0.7601	L	0.55213	1.73	0.09310	N	1	P;D	0.55605	0.903;0.972	P;P	0.44897	0.463;0.463	T	0.82076	-0.0636	10	0.56958	D	0.05	.	13.0067	0.58710	0.0:0.0:0.4284:0.5716	.	356;356	B2R6P1;P34059	.;GALNS_HUMAN	M	356;281	ENSP00000268695:T356M;ENSP00000438197:T281M	ENSP00000268695:T356M	T	-	2	0	GALNS	87420683	0.001000	0.12720	0.027000	0.17364	0.004000	0.04260	0.464000	0.21988	0.459000	0.27016	-0.271000	0.10264	ACG		0.657	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			
GRK6	2870	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	176860405	176860405	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr5:176860405T>A	ENST00000355472.5	+	7	759	c.591T>A	c.(589-591)ttT>ttA	p.F197L	GRK6_ENST00000528793.1_Missense_Mutation_p.F197L|GRK6_ENST00000393576.3_Missense_Mutation_p.F197L|GRK6_ENST00000355958.5_Missense_Mutation_p.F197L|GRK6_ENST00000507633.1_Missense_Mutation_p.F197L	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	197	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)	p.F197L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGGTGGCTTTGGGGAGGTGA	0.617																																																	1	Substitution - Missense(1)	kidney(1)											57.0	60.0	59.0					5																	176860405		2203	4300	6503	SO:0001583	missense	2870				CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.591T>A	5.37:g.176860405T>A	ENSP00000347655:p.Phe197Leu	Somatic		WXS	Illumina HiSeq	Phase_I	O60541|Q13652	Missense_Mutation	SNP	ENST00000355472.5	37	CCDS34303.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.358223	0.82243	.	.	ENSG00000198055	ENST00000506296;ENST00000355472;ENST00000507633;ENST00000393576;ENST00000355958;ENST00000528793	T;T;T;T;T;T	0.34275	2.68;1.37;1.37;1.37;1.37;1.37	5.4	4.25	0.50352	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67524	0.2902	H	0.94222	3.51	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.83275	0.996;0.996;0.993;0.994	T	0.75758	-0.3205	10	0.87932	D	0	-25.5002	10.6658	0.45731	0.0:0.0745:0.0:0.9255	.	197;167;197;197	P43250;B3KPS5;P43250-2;D6RHX8	GRK6_HUMAN;.;.;.	L	165;197;197;197;197;197	ENSP00000421055:F165L;ENSP00000347655:F197L;ENSP00000427581:F197L;ENSP00000377204:F197L;ENSP00000348230:F197L;ENSP00000433511:F197L	ENSP00000347655:F197L	F	+	3	2	GRK6	176793011	0.992000	0.36948	1.000000	0.80357	0.995000	0.86356	1.229000	0.32600	2.052000	0.61016	0.459000	0.35465	TTT		0.617	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1		NM_002082	
VWA8	23078	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	42440166	42440166	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr13:42440166C>T	ENST00000379310.3	-	11	1287	c.1219G>A	c.(1219-1221)Gcc>Acc	p.A407T	VWA8_ENST00000281496.6_Missense_Mutation_p.A407T	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	407						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.A407T(1)									CTGGTCCCGGCTGGCACCTAT	0.488																																																	1	Substitution - Missense(1)	kidney(1)											68.0	70.0	69.0					13																	42440166		2203	4300	6503	SO:0001583	missense	0			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.1219G>A	13.37:g.42440166C>T	ENSP00000368612:p.Ala407Thr	Somatic		WXS	Illumina HiSeq	Phase_I	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276105	0.40294	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496;ENST00000398857	T;T	0.12361	2.9;2.69	5.29	4.39	0.52855	.	0.000000	0.64402	D	0.000001	T	0.16642	0.0400	M	0.68317	2.08	0.48696	D	0.999699	P	0.37423	0.594	B	0.39185	0.293	T	0.03287	-1.1052	10	0.08381	T	0.77	.	15.0153	0.71578	0.143:0.857:0.0:0.0	.	407	A3KMH1	K0564_HUMAN	T	311;407;407;407	ENSP00000368612:A407T;ENSP00000281496:A407T	ENSP00000251030:A311T	A	-	1	0	KIAA0564	41338166	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	1.912000	0.39946	2.626000	0.88956	0.557000	0.71058	GCC		0.488	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2		NM_015058	
LRP8	7804	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	53741419	53741419	+	Missense_Mutation	SNP	C	C	T	rs149347479		TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr1:53741419C>T	ENST00000306052.6	-	6	991	c.890G>A	c.(889-891)gGc>gAc	p.G297D	LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000347547.2_Intron|LRP8_ENST00000354412.3_Missense_Mutation_p.G168D|LRP8_ENST00000371454.2_Missense_Mutation_p.G297D	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	297					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.G297D(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						ACGGCAGGTGCCCAGTGCTGC	0.592																																																	1	Substitution - Missense(1)	kidney(1)						C	ASP/GLY,ASP/GLY,ASP/GLY,	1,4405	2.1+/-5.4	0,1,2202	100.0	71.0	81.0		890,890,503,	1.9	0.0	1	dbSNP_134	81	0,8600		0,0,4300	no	missense,missense,missense,intron	LRP8	NM_001018054.2,NM_004631.4,NM_017522.4,NM_033300.3	94,94,94,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,	297/905,297/964,168/701,	53741419	1,13005	2203	4300	6503	SO:0001583	missense	7804			D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.890G>A	1.37:g.53741419C>T	ENSP00000303634:p.Gly297Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	ENST00000306052.6	37	CCDS578.1	.	.	.	.	.	.	.	.	.	.	C	9.130	1.011267	0.19277	2.27E-4	0.0	ENSG00000157193	ENST00000306052;ENST00000371454;ENST00000354412	D;D;D	0.91295	-2.82;-2.82;-2.82	4.05	1.89	0.25635	.	.	.	.	.	D	0.88403	0.6427	L	0.49126	1.545	0.25374	N	0.988676	P;P;B	0.48640	0.843;0.913;0.402	B;P;B	0.52109	0.362;0.69;0.425	T	0.77327	-0.2629	9	0.12430	T	0.62	.	5.9146	0.19048	0.3075:0.4196:0.2729:0.0	.	168;297;297	Q14114-2;Q14114-3;Q14114	.;.;LRP8_HUMAN	D	297;297;168	ENSP00000303634:G297D;ENSP00000360509:G297D;ENSP00000346391:G168D	ENSP00000303634:G297D	G	-	2	0	LRP8	53514007	0.019000	0.18553	0.019000	0.16419	0.934000	0.57294	1.298000	0.33412	0.876000	0.35872	0.462000	0.41574	GGC		0.592	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1		NM_004631	
LY9	4063	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	160769615	160769615	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr1:160769615C>G	ENST00000263285.6	+	2	227	c.197C>G	c.(196-198)cCc>cGc	p.P66R	LY9_ENST00000392203.4_Missense_Mutation_p.P66R|LY9_ENST00000368039.2_Missense_Mutation_p.P66R|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368037.5_Missense_Mutation_p.P66R|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.P26R|LY9_ENST00000341032.4_Missense_Mutation_p.P66R			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	66	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.P66R(2)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GTGACTCTCCCCCTAAACATC	0.498																																																	2	Substitution - Missense(2)	kidney(2)											83.0	81.0	82.0					1																	160769615		2203	4300	6503	SO:0001583	missense	4063			L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.197C>G	1.37:g.160769615C>G	ENSP00000263285:p.Pro66Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490155	0.44249	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000368039;ENST00000392203;ENST00000368037	T;T;T	0.67345	1.96;1.96;-0.26	4.04	2.11	0.27256	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.786440	0.02870	N	0.131428	T	0.71719	0.3373	M	0.86651	2.83	0.19300	N	0.999973	D;P;D;D;D;D	0.59357	0.97;0.845;0.985;0.982;0.969;0.985	P;B;P;P;P;P	0.61070	0.859;0.367;0.832;0.815;0.658;0.883	T	0.35301	-0.9794	10	0.87932	D	0	0.0546	4.8695	0.13625	0.2103:0.6774:0.0:0.1122	.	66;26;66;66;66;66	B4E0J5;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7;Q6P2J4	.;.;.;.;LY9_HUMAN;.	R	66;66;66;66;66;26;26	ENSP00000342921:P66R;ENSP00000263285:P66R;ENSP00000357018:P66R	ENSP00000263285:P66R	P	+	2	0	LY9	159036239	0.008000	0.16893	0.011000	0.14972	0.071000	0.16799	1.131000	0.31406	0.445000	0.26639	0.563000	0.77884	CCC		0.498	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3		NM_002348	
MAP1A	4130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43821933	43821933	+	Silent	SNP	T	T	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr15:43821933T>A	ENST00000300231.5	+	5	8571	c.8121T>A	c.(8119-8121)gcT>gcA	p.A2707A	MAP1A_ENST00000399453.1_Silent_p.A2707A|MAP1A_ENST00000382031.1_Silent_p.A2945A			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2707					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.A2707A(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCAAGACTGCTGACCTTGACT	0.572																																																	1	Substitution - coding silent(1)	kidney(1)											134.0	135.0	135.0					15																	43821933		2116	4248	6364	SO:0001819	synonymous_variant	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.8121T>A	15.37:g.43821933T>A		Somatic		WXS	Illumina HiSeq	Phase_I	O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	CCDS42031.1																																																																																				0.572	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5		NM_002373	
MTA2	9219	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	62366080	62366080	+	Silent	SNP	C	C	G			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr11:62366080C>G	ENST00000278823.2	-	4	611	c.222G>C	c.(220-222)ggG>ggC	p.G74G	MTA2_ENST00000527204.1_5'UTR|MTA2_ENST00000524902.1_5'UTR	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	74	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G74G(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GCTCAGACACCCCTGGCTGCT	0.483																																																	1	Substitution - coding silent(1)	kidney(1)											133.0	141.0	138.0					11																	62366080		2202	4299	6501	SO:0001819	synonymous_variant	9219			AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.222G>C	11.37:g.62366080C>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q68DB1|Q9UQB5	Silent	SNP	ENST00000278823.2	37	CCDS8022.1																																																																																				0.483	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1		NM_004739	
NCEH1	57552	broad.mit.edu;hgsc.bcm.edu	37	3	172365895	172365895	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr3:172365895T>A	ENST00000475381.1	-	2	381	c.148A>T	c.(148-150)Atc>Ttc	p.I50F	NCEH1_ENST00000538775.1_Missense_Mutation_p.I82F|NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000273512.3_Missense_Mutation_p.I82F			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	50					lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)	p.I82F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						AGGTAGTGGATCAGGTTACTC	0.512																																																	1	Substitution - Missense(1)	kidney(1)											57.0	59.0	58.0					3																	172365895		2203	4300	6503	SO:0001583	missense	57552			AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"""arylacetamide deacetylase-like 1"""	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.148A>T	3.37:g.172365895T>A	ENSP00000418571:p.Ile50Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Missense_Mutation	SNP	ENST00000475381.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.902|8.902	0.956491|0.956491	0.18507|0.18507	.|.	.|.	ENSG00000144959|ENSG00000144959	ENST00000475381;ENST00000538775;ENST00000273512|ENST00000424772	T;T;T|.	0.04406|.	3.66;3.63;3.63|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.540708|.	0.20437|.	N|.	0.092343|.	T|.	0.58807|.	0.2148|.	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	P;B|.	0.38767|.	0.646;0.242|.	B;B|.	0.38562|.	0.276;0.074|.	T|.	0.58482|.	-0.7629|.	10|.	0.17369|.	T|.	0.5|.	-12.4547|-12.4547	8.5685|8.5685	0.33554|0.33554	0.0:0.1429:0.0:0.8571|0.0:0.1429:0.0:0.8571	.|.	82;50|.	F5H7K4;Q6PIU2|.	.;NCEH1_HUMAN|.	F|C	50;82;82|72	ENSP00000418571:I50F;ENSP00000442464:I82F;ENSP00000273512:I82F|.	ENSP00000273512:I82F|.	I|X	-|-	1|3	0|0	NCEH1|NCEH1	173848589|173848589	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.717000|0.717000	0.41224|0.41224	2.009000|2.009000	0.40903|0.40903	2.238000|2.238000	0.73509|0.73509	0.533000|0.533000	0.62120|0.62120	ATC|TGA		0.512	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346367.3		NM_020792	
NMRAL1	57407	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4519369	4519369	+	Silent	SNP	C	C	T			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr16:4519369C>T	ENST00000574733.1	-	3	867	c.138G>A	c.(136-138)gaG>gaA	p.E46E	NMRAL1_ENST00000574425.1_Silent_p.E46E|NMRAL1_ENST00000404295.3_Silent_p.E46E|NMRAL1_ENST00000283429.6_Silent_p.E46E|NMRAL1_ENST00000572391.1_Intron			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	46						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E46E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						GCAGCCTCAGCTCCTTTGCTG	0.582																																																	1	Substitution - coding silent(1)	kidney(1)											310.0	235.0	261.0					16																	4519369		2197	4300	6497	SO:0001819	synonymous_variant	57407			AF225419	CCDS10516.1	16p13.3	2013-10-11			ENSG00000153406	ENSG00000153406		"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	24987	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 48A, member 1"""					19027726	Standard	NM_020677		Approved	FLJ25918, HSCARG, SDR48A1	uc002cwo.3	Q9HBL8	OTTHUMG00000129468	ENST00000574733.1:c.138G>A	16.37:g.4519369C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000574733.1	37	CCDS10516.1																																																																																				0.582	NMRAL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438579.1		NM_020677	
OXSM	54995	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	25832713	25832713	+	Missense_Mutation	SNP	G	G	C	rs202016313		TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr3:25832713G>C	ENST00000280701.3	+	2	301	c.202G>C	c.(202-204)Gga>Cga	p.G68R	OXSM_ENST00000420173.2_Missense_Mutation_p.G68R|OXSM_ENST00000449808.1_3'UTR|NGLY1_ENST00000417874.2_5'Flank	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	68					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)	p.G68R(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TCGTCTTATCGGAGGAGAGAG	0.463																																																	1	Substitution - Missense(1)	kidney(1)											167.0	153.0	158.0					3																	25832713		2203	4300	6503	SO:0001583	missense	54995			BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.202G>C	3.37:g.25832713G>C	ENSP00000280701:p.Gly68Arg	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000280701.3	37	CCDS2643.1	.	.	.	.	.	.	.	.	.	.	G	1.031	-0.681817	0.03353	.	.	ENSG00000151093	ENST00000452098;ENST00000280701;ENST00000420173;ENST00000428266	.	.	.	5.14	4.26	0.50523	Beta-ketoacyl synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.922420	0.09398	N	0.807610	T	0.28101	0.0693	N	0.08118	0	0.18873	N	0.999981	B;B	0.02656	0.0;0.0	B;B	0.08055	0.0;0.003	T	0.19192	-1.0313	9	0.33141	T	0.24	0.296	15.6746	0.77307	0.0:0.738:0.262:0.0	.	68;68	Q9NWU1-2;Q9NWU1	.;OXSM_HUMAN	R	68	.	ENSP00000280701:G68R	G	+	1	0	OXSM	25807717	0.075000	0.21258	0.638000	0.29380	0.129000	0.20672	1.898000	0.39809	1.391000	0.46566	-0.270000	0.10280	GGA		0.463	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2		NM_017897	
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52620685	52620685	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr3:52620685G>C	ENST00000296302.7	-	20	3144	c.3143C>G	c.(3142-3144)cCa>cGa	p.P1048R	PBRM1_ENST00000394830.3_Missense_Mutation_p.P1023R|PBRM1_ENST00000409057.1_Missense_Mutation_p.P1048R|PBRM1_ENST00000337303.4_Missense_Mutation_p.P1048R|PBRM1_ENST00000409767.1_Missense_Mutation_p.P1063R|PBRM1_ENST00000410007.1_Missense_Mutation_p.P1023R|PBRM1_ENST00000356770.4_Missense_Mutation_p.P1016R|PBRM1_ENST00000409114.3_Missense_Mutation_p.P1063R			Q86U86	PB1_HUMAN	polybromo 1	1048	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				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)	p.P1048R(2)|p.P1016R(1)		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)		GAAGTTTTCTGGGCATAACTT	0.363			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Missense(3)	kidney(3)											55.0	60.0	58.0					3																	52620685		2203	4300	6503	SO:0001583	missense	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.3143C>G	3.37:g.52620685G>C	ENSP00000296302:p.Pro1048Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	18.52	3.642717	0.67244	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	D;D;D;D;D;D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05;-2.05	5.24	5.24	0.73138	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.93776	0.8010	M	0.89163	3.01	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;0.997;1.0;1.0;1.0;1.0;1.0;1.0	D	0.94767	0.7941	10	0.87932	D	0	.	18.8065	0.92040	0.0:0.0:1.0:0.0	.	1023;1047;1023;1048;1063;1063;1048;1016;1048	Q86U86-9;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	R	1016;1023;1048;1048;1048;1023;1063;1063;1047;1006	ENSP00000349213:P1016R;ENSP00000378307:P1023R;ENSP00000296302:P1048R;ENSP00000338302:P1048R;ENSP00000386593:P1048R;ENSP00000386529:P1023R;ENSP00000386643:P1063R;ENSP00000386601:P1063R;ENSP00000387775:P1047R;ENSP00000397662:P1006R	ENSP00000296302:P1048R	P	-	2	0	PBRM1	52595725	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.410000	0.97335	2.435000	0.82474	0.555000	0.69702	CCA		0.363	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PCDHA5	56143	hgsc.bcm.edu	37	5	140202821	140202821	+	Silent	SNP	C	C	G	rs80008076	byFrequency	TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr5:140202821C>G	ENST00000529859.1	+	1	1461	c.1461C>G	c.(1459-1461)gcC>gcG	p.A487A	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.A487A|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.A487A	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	487	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A487A(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGAACGCCCTGGTGTCCT	0.667													.|||	72	0.014377	0.0537	0.0014	5008	,	,		18355	0.0		0.0	False		,,,				2504	0.0																2	Substitution - coding silent(2)	lung(2)						G	,,,,,,	227,4179	797.7+/-415.4	9,209,1985	68.0	73.0	71.0		,,,,1461,,1461	2.0	1.0	5	dbSNP_131	71	1,8599	814.7+/-407.0	0,1,4299	no	intron,intron,intron,intron,coding-synonymous,intron,coding-synonymous	PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_031411.1,NM_031501.1	,,,,,,	9,210,6284	GG,GC,CC		0.0116,5.1521,1.753	,,,,,,	,,,,487/937,,487/817	140202821	228,12778	2203	4300	6503	SO:0001819	synonymous_variant	56143			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1461C>G	5.37:g.140202821C>G		Somatic		WXS	Illumina HiSeq	Phase_I	O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	CCDS54917.1																																																																																				0.667	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2		NM_018908	
PCDHB7	56129	broad.mit.edu;hgsc.bcm.edu	37	5	140553991	140553991	+	Silent	SNP	G	G	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr5:140553991G>A	ENST00000231137.3	+	1	1749	c.1575G>A	c.(1573-1575)caG>caA	p.Q525Q		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	525	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q525Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCCCTGCAGGCGTTCGAGT	0.706																																																	1	Substitution - coding silent(1)	kidney(1)											65.0	70.0	69.0					5																	140553991		2203	4300	6503	SO:0001819	synonymous_variant	56129			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1575G>A	5.37:g.140553991G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A1L3Y8	Silent	SNP	ENST00000231137.3	37	CCDS4249.1																																																																																				0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2		NM_018940	
PIKFYVE	200576	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	209169642	209169642	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr2:209169642C>A	ENST00000264380.4	+	12	1699	c.1541C>A	c.(1540-1542)tCt>tAt	p.S514Y	PIKFYVE_ENST00000308862.6_Missense_Mutation_p.S428Y|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.S514Y|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.S417Y	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	514					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.S514Y(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TCAGCCGCTTCTATCAGCCTG	0.517																																																	1	Substitution - Missense(1)	kidney(1)											126.0	118.0	121.0					2																	209169642		2203	4300	6503	SO:0001583	missense	200576			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.1541C>A	2.37:g.209169642C>A	ENSP00000264380:p.Ser514Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806004	0.70682	.	.	ENSG00000115020	ENST00000392202;ENST00000264380;ENST00000407449;ENST00000308862	T;T	0.68331	1.5;-0.32	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.72574	0.3477	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.71674	0.998;0.997;0.995;0.994	D;D;D;D	0.80764	0.991;0.994;0.979;0.989	T	0.68808	-0.5311	10	0.27082	T	0.32	-17.8392	20.009	0.97446	0.0:1.0:0.0:0.0	.	514;428;514;417	Q9Y2I7;Q9Y2I7-3;Q08AR7;Q9Y2I7-2	FYV1_HUMAN;.;.;.	Y	417;514;514;428	ENSP00000264380:S514Y;ENSP00000384356:S514Y	ENSP00000264380:S514Y	S	+	2	0	PIKFYVE	208877887	1.000000	0.71417	0.964000	0.40570	0.994000	0.84299	7.818000	0.86416	2.733000	0.93635	0.563000	0.77884	TCT		0.517	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2		NM_015040	
PLA2G4D	283748	broad.mit.edu	37	15	42363002	42363002	+	Silent	SNP	G	G	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr15:42363002G>A	ENST00000290472.3	-	18	2050	c.1956C>T	c.(1954-1956)atC>atT	p.I652I		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	652	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)	p.I652I(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		AGCTGGTGTTGATGAAGTAGG	0.632																																																	1	Substitution - coding silent(1)	kidney(1)											78.0	72.0	74.0					15																	42363002		2202	4299	6501	SO:0001819	synonymous_variant	283748			AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1956C>T	15.37:g.42363002G>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q8N176	Silent	SNP	ENST00000290472.3	37	CCDS32203.1																																																																																				0.632	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1		NM_178034	
PRMT1	3276	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50185319	50185319	+	Silent	SNP	C	C	T	rs143554083	byFrequency	TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr19:50185319C>T	ENST00000391851.4	+	3	420	c.291C>T	c.(289-291)atC>atT	p.I97I	PRMT1_ENST00000454376.2_Silent_p.I115I|MIR5088_ENST00000581740.1_RNA|PRMT1_ENST00000532489.1_Silent_p.I69I	NM_198318.4	NP_938074.2	Q99873	ANM1_HUMAN	protein arginine methyltransferase 1	105	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell surface receptor signaling pathway (GO:0007166)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of megakaryocyte differentiation (GO:0045653)|neuron projection development (GO:0031175)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|protein methylation (GO:0006479)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|identical protein binding (GO:0042802)|methyltransferase activity (GO:0008168)|N-methyltransferase activity (GO:0008170)|poly(A) RNA binding (GO:0044822)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)	p.I91I(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		GCAAGGTCATCGGGGTGAGTC	0.667																																																	1	Substitution - coding silent(1)	kidney(1)						C	,,	2,4402	4.2+/-10.8	0,2,2200	35.0	39.0	38.0		291,345,291	-6.4	0.9	19	dbSNP_134	38	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	PRMT1	NM_001207042.1,NM_001536.4,NM_198318.3	,,	0,3,6499	TT,TC,CC		0.0116,0.0454,0.0231	,,	97/286,115/372,97/354	50185319	3,13001	2202	4300	6502	SO:0001819	synonymous_variant	3276			D66904	CCDS42592.1, CCDS46145.1, CCDS74425.1	19q13	2014-06-12	2006-02-16	2006-02-16	ENSG00000126457	ENSG00000126457	2.1.1.125	"""Protein arginine methyltransferases"""	5187	protein-coding gene	gene with protein product		602950	"""HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2"", ""HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae)"""	HRMT1L2		9545638	Standard	NM_001207042		Approved	HCP1, ANM1	uc010enf.2	Q99873	OTTHUMG00000167568	ENST00000391851.4:c.291C>T	19.37:g.50185319C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4E3C3|G5E9B6|Q15529|Q2VP93|Q6LEU5|Q8WUW5|Q99872|Q99874|Q9NZ04|Q9NZ05|Q9NZ06	Silent	SNP	ENST00000391851.4	37	CCDS42592.1	.	.	.	.	.	.	.	.	.	.	C	5.956	0.360454	0.11296	4.54E-4	1.16E-4	ENSG00000126457	ENST00000524771	.	.	.	5.04	-6.41	0.01938	.	.	.	.	.	T	0.60038	0.2238	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63435	-0.6638	4	.	.	.	-0.5276	13.4751	0.61303	0.0:0.3661:0.0:0.6339	.	.	.	.	L	125	.	.	S	+	2	0	PRMT1	54877131	0.017000	0.18338	0.924000	0.36721	0.407000	0.30961	-1.009000	0.03660	-0.914000	0.03827	-1.214000	0.01621	TCG		0.667	PRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395065.1		NM_001536	
PTGFR	5737	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	78958841	78958841	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr1:78958841C>G	ENST00000370757.3	+	2	650	c.413C>G	c.(412-414)aCa>aGa	p.T138R	PTGFR_ENST00000370758.1_Missense_Mutation_p.T138R|PTGFR_ENST00000370756.3_Missense_Mutation_p.T138R	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	138					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)	p.T138R(2)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	ATTGGAGTCACAAAACCAATA	0.408																																																	2	Substitution - Missense(2)	kidney(2)											161.0	154.0	156.0					1																	78958841		2203	4300	6503	SO:0001583	missense	5737			AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.413C>G	1.37:g.78958841C>G	ENSP00000359793:p.Thr138Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	CCDS686.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874686	0.72180	.	.	ENSG00000122420	ENST00000370758;ENST00000370757;ENST00000370756	T;T;T	0.37752	1.18;1.18;1.18	5.85	5.85	0.93711	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.44603	0.1301	L	0.35542	1.07	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.13845	-1.0494	10	0.41790	T	0.15	-16.8512	20.5471	0.99284	0.0:1.0:0.0:0.0	.	138;138	P43088;P43088-2	PF2R_HUMAN;.	R	138	ENSP00000359794:T138R;ENSP00000359793:T138R;ENSP00000359792:T138R	ENSP00000359792:T138R	T	+	2	0	PTGFR	78731429	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.558000	0.60789	2.941000	0.99782	0.655000	0.94253	ACA		0.408	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1		NM_000959	
RAD51	5888	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	41011016	41011016	+	Missense_Mutation	SNP	G	G	A	rs121917739	byFrequency	TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr15:41011016G>A	ENST00000267868.3	+	6	717	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	RAD51_ENST00000423169.2_Missense_Mutation_p.R150Q|RAD51_ENST00000557850.1_Intron|RAD51_ENST00000382643.3_Missense_Mutation_p.R151Q|RAD51_ENST00000532743.1_Missense_Mutation_p.R151Q	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	150			R -> Q (in BC; familial; dbSNP:rs121917739). {ECO:0000269|PubMed:10807537}.		ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA unwinding involved in DNA replication (GO:0006268)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|mitotic recombination (GO:0006312)|positive regulation of DNA ligation (GO:0051106)|protein homooligomerization (GO:0051260)|reciprocal meiotic recombination (GO:0007131)|regulation of double-strand break repair via homologous recombination (GO:0010569)	condensed chromosome (GO:0000793)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|lateral element (GO:0000800)|mitochondrion (GO:0005739)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|PML body (GO:0016605)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA polymerase binding (GO:0070182)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|single-stranded DNA binding (GO:0003697)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.R150Q(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		CCCATTGACCGGGGTGGAGGT	0.453								Homologous recombination					G|||	4	0.000798722	0.003	0.0	5008	,	,		17833	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)	GRCh37	CM002094	RAD51	M	rs121917739	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	18,4388	25.3+/-52.1	1,16,2186	136.0	127.0	130.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	452,449,449,452	5.6	1.0	15	dbSNP_133	130	0,8600		0,0,4300	yes	missense,missense,missense,missense	RAD51	NM_001164269.1,NM_001164270.1,NM_002875.4,NM_133487.3	43,43,43,43	1,16,6486	AA,AG,GG		0.0,0.4085,0.1384	benign,benign,benign,benign	151/341,150/281,150/340,151/341	41011016	18,12988	2203	4300	6503	SO:0001583	missense	5888			D13804	CCDS10062.1, CCDS53931.1, CCDS53932.1	15q15.1	2014-06-12	2013-07-02		ENSG00000051180	ENSG00000051180			9817	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 5"""	179617	"""RAD51 (S. cerevisiae) homolog (E coli RecA homolog)"", ""RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)"", ""RAD51 homolog (S. cerevisiae)"""	RAD51A, RECA		8358431, 8479919	Standard	NM_002875		Approved	HsRad51, HsT16930, BRCC5	uc010bbx.3	Q06609	OTTHUMG00000130067	ENST00000267868.3:c.449G>A	15.37:g.41011016G>A	ENSP00000267868:p.Arg150Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B0FXP0|B2R8T6|Q6FHX9|Q6ZNA8|Q9BV60	Missense_Mutation	SNP	ENST00000267868.3	37	CCDS10062.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	9.975	1.226462	0.22542	0.004085	0.0	ENSG00000051180	ENST00000527860;ENST00000423169;ENST00000267868;ENST00000532743;ENST00000382643	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15	5.63	5.63	0.86233	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.059789	0.64402	D	0.000002	T	0.09158	0.0226	N	0.00661	-1.28	0.54753	A	0.999988	B;B;B	0.17038	0.02;0.009;0.0	B;B;B	0.12156	0.003;0.007;0.004	T	0.26538	-1.0100	9	0.06236	T	0.91	-7.0689	19.2722	0.94015	0.0:0.0:1.0:0.0	.	150;151;150	Q06609-3;Q6ZNA8;Q06609	.;.;RAD51_HUMAN	Q	150;150;150;151;151	ENSP00000432759:R150Q;ENSP00000406602:R150Q;ENSP00000267868:R150Q;ENSP00000433924:R151Q;ENSP00000372088:R151Q	ENSP00000267868:R150Q	R	+	2	0	RAD51	38798308	1.000000	0.71417	0.993000	0.49108	0.872000	0.50106	4.573000	0.60893	2.656000	0.90262	0.655000	0.94253	CGG		0.453	RAD51-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252358.1		NM_002875, NM_133487	
RREB1	6239	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	7231266	7231266	+	Silent	SNP	T	T	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr6:7231266T>A	ENST00000349384.6	+	10	3248	c.2934T>A	c.(2932-2934)tcT>tcA	p.S978S	RREB1_ENST00000379933.3_Silent_p.S978S|RREB1_ENST00000334984.6_Silent_p.S978S|RREB1_ENST00000379938.2_Silent_p.S978S	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	978	Pro-rich.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S978S(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCGGCCCTTCTCTTCCTGTAA	0.682																																																	2	Substitution - coding silent(2)	kidney(2)											19.0	22.0	21.0					6																	7231266		2203	4300	6503	SO:0001819	synonymous_variant	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2934T>A	6.37:g.7231266T>A		Somatic		WXS	Illumina HiSeq	Phase_I	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	CCDS34336.1																																																																																				0.682	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			
RSAD2	91543	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	7023597	7023597	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr2:7023597C>T	ENST00000382040.3	+	2	578	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	RSAD2_ENST00000541728.1_Missense_Mutation_p.R41W	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2									p.R148W(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		AGTAGAGTTGCGGCTGCCCAG	0.512																																																	1	Substitution - Missense(1)	kidney(1)											109.0	102.0	104.0					2																	7023597		2203	4300	6503	SO:0001583	missense	91543			AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.442C>T	2.37:g.7023597C>T	ENSP00000371471:p.Arg148Trp	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000382040.3	37	CCDS1656.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633729	0.47049	.	.	ENSG00000134321	ENST00000442639;ENST00000382040;ENST00000541728	D;D;D	0.91996	-2.95;-2.95;-2.95	6.04	-7.55	0.01327	Elongator protein 3/MiaB/NifB (1);Radical SAM (1);	2.567660	0.01184	N	0.007165	D	0.85902	0.5805	N	0.19112	0.55	0.09310	N	1	D	0.61080	0.989	P	0.49301	0.606	T	0.79811	-0.1646	10	0.36615	T	0.2	0.4973	5.3499	0.16030	0.2756:0.1198:0.4739:0.1307	.	148	Q8WXG1	RSAD2_HUMAN	W	80;148;41	ENSP00000406427:R80W;ENSP00000371471:R148W;ENSP00000440859:R41W	ENSP00000371471:R148W	R	+	1	2	RSAD2	6941048	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.377000	0.20552	-1.111000	0.02988	0.563000	0.77884	CGG		0.512	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2		NM_080657	
SLC7A2	6542	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	17412117	17412117	+	Silent	SNP	G	G	A	rs1134978		TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr8:17412117G>A	ENST00000494857.1	+	8	1322	c.1104G>A	c.(1102-1104)gcG>gcA	p.A368A	SLC7A2_ENST00000004531.10_Silent_p.A408A|SLC7A2_ENST00000522656.1_Silent_p.A368A|SLC7A2_ENST00000398090.3_Intron|SLC7A2_ENST00000470360.1_Intron	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	368					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)	p.A368A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	ATGCTATGGCGGAGGATGGGT	0.413																																																	1	Substitution - coding silent(1)	kidney(1)						G	,,	0,4406		0,0,2203	200.0	186.0	191.0		1104,1224,	4.7	1.0	8		191	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron	SLC7A2	NM_001008539.3,NM_001164771.1,NM_003046.5	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	368/659,408/699,	17412117	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6542			D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1104G>A	8.37:g.17412117G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Silent	SNP	ENST00000494857.1	37	CCDS34852.1																																																																																				0.413	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3		NM_003046	
SLC8A3	6547	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	70634851	70634851	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr14:70634851G>A	ENST00000381269.2	-	2	1042	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	SLC8A3_ENST00000528359.1_Missense_Mutation_p.R97C|SLC8A3_ENST00000534137.1_Missense_Mutation_p.R97C|SLC8A3_ENST00000357887.3_Missense_Mutation_p.R97C|SLC8A3_ENST00000356921.2_Missense_Mutation_p.R97C	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	97					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)	p.R97C(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GCCATGAAGCGGTCAGCAATG	0.488																																																	2	Substitution - Missense(2)	kidney(2)											87.0	76.0	80.0					14																	70634851		2203	4300	6503	SO:0001583	missense	6547			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.289C>T	14.37:g.70634851G>A	ENSP00000370669:p.Arg97Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477613	0.63849	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	4.96	4.96	0.65561	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.84745	0.5540	M	0.93550	3.43	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.995;0.997	D	0.88596	0.3146	10	0.66056	D	0.02	.	18.3961	0.90499	0.0:0.0:1.0:0.0	.	97;97;97;97	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	C	97	ENSP00000349392:R97C;ENSP00000370669:R97C;ENSP00000350560:R97C;ENSP00000436688:R97C;ENSP00000433531:R97C	ENSP00000349392:R97C	R	-	1	0	SLC8A3	69704604	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.648000	0.98483	2.573000	0.86826	0.650000	0.86243	CGC		0.488	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			
SPAM1	6677	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	123593857	123593857	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr7:123593857G>A	ENST00000439500.1	+	4	846	c.233G>A	c.(232-234)aGc>aAc	p.S78N	SPAM1_ENST00000223028.7_Missense_Mutation_p.S78N|SPAM1_ENST00000340011.5_Missense_Mutation_p.S78N|SPAM1_ENST00000402183.2_Missense_Mutation_p.S78N|SPAM1_ENST00000460182.1_Missense_Mutation_p.S78N	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	78					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.S78N(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTCATAGGAAGCCCCCGAATA	0.428																																																	2	Substitution - Missense(2)	kidney(2)											46.0	44.0	45.0					7																	123593857		2203	4300	6503	SO:0001583	missense	6677			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.233G>A	7.37:g.123593857G>A	ENSP00000402123:p.Ser78Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313784	0.60414	.	.	ENSG00000106304	ENST00000402183;ENST00000413927;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73	6.03	3.2	0.36748	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.139520	0.64402	D	0.000004	T	0.26448	0.0646	L	0.38175	1.15	0.31847	N	0.622745	P;P	0.46578	0.88;0.88	P;P	0.50659	0.647;0.647	T	0.16837	-1.0389	10	0.19590	T	0.45	-16.6087	10.5211	0.44920	0.0675:0.3785:0.5541:0.0	.	78;78	Q8TC30;P38567	.;HYALP_HUMAN	N	78	ENSP00000386028:S78N;ENSP00000391491:S78N;ENSP00000417934:S78N;ENSP00000345849:S78N;ENSP00000402123:S78N;ENSP00000223028:S78N	ENSP00000223028:S78N	S	+	2	0	SPAM1	123381093	0.022000	0.18835	0.992000	0.48379	0.344000	0.29017	0.387000	0.20718	0.401000	0.25424	0.655000	0.94253	AGC		0.428	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			
SVEP1	79987	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	113212507	113212507	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr9:113212507T>C	ENST00000401783.2	-	24	4271	c.3935A>G	c.(3934-3936)cAg>cGg	p.Q1312R	SVEP1_ENST00000374469.1_Missense_Mutation_p.Q1289R|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.Q1312R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1312	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.Q1312R(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGGGTTTGACTGGCATTCATT	0.458																																																	1	Substitution - Missense(1)	kidney(1)											124.0	116.0	119.0					9																	113212507		1886	4111	5997	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.3935A>G	9.37:g.113212507T>C	ENSP00000384917:p.Gln1312Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.478185	0.26511	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;D	0.87412	-0.98;-0.99;-2.25	5.74	4.6	0.57074	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.423925	0.25981	N	0.027070	T	0.75975	0.3923	N	0.17631	0.505	0.24982	N	0.991591	P;B	0.43231	0.801;0.239	B;B	0.40741	0.339;0.07	T	0.64761	-0.6331	10	0.13470	T	0.59	.	9.6949	0.40152	0.42:0.0:0.0:0.58	.	1312;1312	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	R	1312;1289;1312	ENSP00000384917:Q1312R;ENSP00000363593:Q1289R;ENSP00000304118:Q1312R	ENSP00000304118:Q1312R	Q	-	2	0	SVEP1	112252328	0.998000	0.40836	0.987000	0.45799	0.907000	0.53573	2.767000	0.47637	0.984000	0.38629	-0.414000	0.06135	CAG		0.458	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				
TEC	7006	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	48147523	48147523	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr4:48147523C>A	ENST00000381501.3	-	13	1312	c.1155G>T	c.(1153-1155)agG>agT	p.R385S	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	385	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.R385S(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						ATTTGCCAAGCCTCACCACTC	0.458																																																	1	Substitution - Missense(1)	kidney(1)											156.0	136.0	143.0					4																	48147523		2203	4300	6503	SO:0001583	missense	100124696			D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.1155G>T	4.37:g.48147523C>A	ENSP00000370912:p.Arg385Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.331700	0.41297	.	.	ENSG00000135605	ENST00000381501	T	0.62105	0.05	5.62	3.65	0.41850	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.53658	0.1810	N	0.22421	0.69	0.44619	D	0.997598	D	0.56521	0.976	P	0.60286	0.872	T	0.54417	-0.8297	10	0.21540	T	0.41	.	1.2784	0.02035	0.2444:0.4213:0.1413:0.193	.	385	P42680	TEC_HUMAN	S	385	ENSP00000370912:R385S	ENSP00000370912:R385S	R	-	3	2	TEC	47842280	0.762000	0.28451	1.000000	0.80357	0.992000	0.81027	0.088000	0.14979	0.547000	0.28938	0.491000	0.48974	AGG		0.458	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			
TLR2	7097	hgsc.bcm.edu	37	4	154626180	154626188	+	In_Frame_Del	DEL	TGTGAAGAG	TGTGAAGAG	-	rs5743705	byFrequency	TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	TGTGAAGAG	TGTGAAGAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr4:154626180_154626188delTGTGAAGAG	ENST00000260010.6	+	1	3529_3537	c.2121_2129delTGTGAAGAG	c.(2119-2130)tttgtgaagagt>ttt	p.VKS708del		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	708	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	CTGAAAACTTTGTGAAGAGTGAGTGGTGC	0.407																																																	0																																										SO:0001651	inframe_deletion	7097			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.2121_2129delTGTGAAGAG	4.37:g.154626180_154626188delTGTGAAGAG	ENSP00000260010:p.Val708_Ser710del	Somatic		WXS	Illumina HiSeq	Phase_I	B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	In_Frame_Del	DEL	ENST00000260010.6	37	CCDS3784.1																																																																																				0.407	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			
TPCN2	219931	broad.mit.edu	37	11	68853399	68853399	+	Splice_Site	SNP	G	G	A	rs145113932		TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr11:68853399G>A	ENST00000294309.3	+	22	2104		c.e22+1		MIR3164_ENST00000581178.1_RNA|TPCN2_ENST00000542467.1_Intron|TPCN2_ENST00000442692.2_Splice_Site	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2						calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)	p.?(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACTCAGGCCCGTGAGTCCTCG	0.637													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18178	0.0		0.0	False		,,,				2504	0.0																1	Unknown(1)	kidney(1)						G		1,4399	2.1+/-5.4	0,1,2199	111.0	93.0	99.0			3.4	1.0	11	dbSNP_134	99	0,8588		0,0,4294	no	splice-5	TPCN2	NM_139075.3		0,1,6493	AA,AG,GG		0.0,0.0227,0.0077			68853399	1,12987	2200	4294	6494	SO:0001630	splice_region_variant	219931			AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.2003+1G>A	11.37:g.68853399G>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q9NT82	Splice_Site	SNP	ENST00000294309.3	37	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031015	0.35797	2.27E-4	0.0	ENSG00000162341	ENST00000294309	.	.	.	4.29	3.37	0.38596	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8047	0.52147	0.0882:0.0:0.9118:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TPCN2	68609975	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	6.311000	0.72835	0.937000	0.37394	0.491000	0.48974	.		0.637	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2		NM_139075	Intron
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179454614	179454614	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr2:179454614T>A	ENST00000591111.1	-	254	57139	c.56915A>T	c.(56914-56916)cAg>cTg	p.Q18972L	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q11673L|TTN_ENST00000460472.2_Missense_Mutation_p.Q11548L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q11740L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q20613L|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q18045L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18972	Fibronectin type-III 37. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Q18043L(1)|p.Q11548L(1)|p.Q11673L(1)|p.Q11740L(1)|p.Q18045L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGCCTTTCTGGTTTGGTTT	0.373																																																	5	Substitution - Missense(5)	kidney(5)											142.0	128.0	132.0					2																	179454614		1847	4097	5944	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.56915A>T	2.37:g.179454614T>A	ENSP00000465570:p.Gln18972Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	9.784	1.176187	0.21704	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	6.1	4.94	0.65067	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38532	0.1044	N	0.16266	0.395	0.46954	D	0.999261	B;B;B;B	0.20671	0.047;0.047;0.047;0.047	B;B;B;B	0.21917	0.037;0.037;0.037;0.037	T	0.22977	-1.0201	9	0.87932	D	0	.	12.3151	0.54951	0.0:0.0658:0.0:0.9342	.	11548;11673;11740;18972	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	18045;11548;11740;11673;11546	ENSP00000343764:Q18045L;ENSP00000434586:Q11548L;ENSP00000340554:Q11740L;ENSP00000352154:Q11673L	ENSP00000340554:Q11740L	Q	-	2	0	TTN	179162860	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.131000	0.64751	1.123000	0.41961	0.528000	0.53228	CAG		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
UBE2Q1	55585	broad.mit.edu;ucsc.edu	37	1	154522941	154522941	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr1:154522941C>T	ENST00000292211.4	-	13	1321	c.1242G>A	c.(1240-1242)tgG>tgA	p.W414*	UBE2Q1_ENST00000497453.1_5'Flank	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	414					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.W414*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGGTGTGTACCAGCCTGCAA	0.537																																																	1	Substitution - Nonsense(1)	kidney(1)											227.0	198.0	208.0					1																	154522941		2203	4300	6503	SO:0001587	stop_gained	55585			AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"""Ubiquitin-conjugating enzymes E2"""	15698	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2Q (putative)"""	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.1242G>A	1.37:g.154522941C>T	ENSP00000292211:p.Trp414*	Somatic		WXS	Illumina GAIIx	Phase_I	B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Nonsense_Mutation	SNP	ENST00000292211.4	37	CCDS1069.1	.	.	.	.	.	.	.	.	.	.	C	35	5.539018	0.96474	.	.	ENSG00000160714	ENST00000292211	.	.	.	5.31	5.31	0.75309	.	0.236509	0.41500	D	0.000871	.	.	.	.	.	.	0.53688	D	0.999976	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2075	17.7137	0.88330	0.0:1.0:0.0:0.0	.	.	.	.	X	414	.	ENSP00000292211:W414X	W	-	3	0	UBE2Q1	152789565	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.406000	0.80017	2.759000	0.94783	0.561000	0.74099	TGG		0.537	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090704.1		NM_017582	
UGGT1	56886	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	128927889	128927889	+	Silent	SNP	G	G	T			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr2:128927889G>T	ENST00000259253.6	+	27	2996	c.2949G>T	c.(2947-2949)ggG>ggT	p.G983G	UGGT1_ENST00000375990.3_Silent_p.G959G	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	983					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.G983G(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CGAAGGAAGGGGAGACATACT	0.443																																																	1	Substitution - coding silent(1)	kidney(1)											154.0	123.0	133.0					2																	128927889		2203	4300	6503	SO:0001819	synonymous_variant	56886			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.2949G>T	2.37:g.128927889G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Silent	SNP	ENST00000259253.6	37	CCDS2154.1																																																																																				0.443	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2		NM_020120	
VEZT	55591	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	95694240	95694240	+	Missense_Mutation	SNP	C	C	T	rs373340086		TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr12:95694240C>T	ENST00000436874.1	+	12	2236	c.2131C>T	c.(2131-2133)Cct>Tct	p.P711S	VEZT_ENST00000261219.6_Missense_Mutation_p.P663S|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	711					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)		p.P711S(2)		endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GACCACTGCCCCTCCAACTCC	0.507																																																	2	Substitution - Missense(2)	kidney(2)						C	SER/PRO	0,4002		0,0,2001	57.0	58.0	58.0		2131	3.7	0.0	12		58	1,8325		0,1,4162	no	missense	VEZT	NM_017599.3	74	0,1,6163	TT,TC,CC		0.012,0.0,0.0081	benign	711/780	95694240	1,12327	2001	4163	6164	SO:0001583	missense	55591			AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.2131C>T	12.37:g.95694240C>T	ENSP00000410083:p.Pro711Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.546612	0.00926	0.0	1.2E-4	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397792;ENST00000397796	T;T;T	0.13657	2.57;2.57;2.57	5.51	3.69	0.42338	.	0.870454	0.10728	N	0.640964	T	0.11367	0.0277	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37911	-0.9685	10	0.18276	T	0.48	-12.6324	9.682	0.40076	0.0:0.8009:0.0:0.1991	.	711	Q9HBM0	VEZA_HUMAN	S	711;663;667;711	ENSP00000410083:P711S;ENSP00000261219:P663S;ENSP00000380894:P667S	ENSP00000261219:P663S	P	+	1	0	VEZT	94218371	0.000000	0.05858	0.007000	0.13788	0.019000	0.09904	0.680000	0.25306	0.690000	0.31570	0.650000	0.86243	CCT		0.507	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2		NM_017599	
VHL	7428	broad.mit.edu	37	3	10183734	10183734	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr3:10183734C>A	ENST00000256474.2	+	1	1043	c.203C>A	c.(202-204)tCg>tAg	p.S68*	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Nonsense_Mutation_p.S68*	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	68			Missing (in VHLD; type I).|S -> W (in pheochromocytoma and VHLD; type II). {ECO:0000269|PubMed:10627136, ECO:0000269|PubMed:12000816}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S68*(15)|p.N67fs*59(1)|p.A56_R69>G(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.S68L(1)|p.N67fs*64(1)|p.N67fs*63(1)|p.P61fs*61(1)|p.R69fs*63(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCGGTGAACTCGCGCGAGCCC	0.716		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	24	Substitution - Nonsense(15)|Deletion - Frameshift(3)|Complex - frameshift(2)|Deletion - In frame(1)|Insertion - Frameshift(1)|Complex - deletion inframe(1)|Substitution - Missense(1)	kidney(24)	GRCh37	CM003058|CM971566	VHL	M							8.0	11.0	10.0					3																	10183734		2146	4213	6359	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.203C>A	3.37:g.10183734C>A	ENSP00000256474:p.Ser68*	Somatic		WXS	Illumina GAIIx	Phase_I	B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	31	5.088584	0.94100	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.45	4.53	0.55603	.	0.369470	0.28203	N	0.016215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8236	13.5532	0.61745	0.0:0.7597:0.2403:0.0	.	.	.	.	X	68	.	ENSP00000256474:S68X	S	+	2	0	VHL	10158734	0.146000	0.22672	0.981000	0.43875	0.672000	0.39443	0.351000	0.20096	2.567000	0.86603	0.550000	0.68814	TCG		0.716	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
ZNF438	220929	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	31134199	31134199	+	Silent	SNP	C	C	T			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr10:31134199C>T	ENST00000361310.3	-	7	2507	c.2178G>A	c.(2176-2178)ctG>ctA	p.L726L	ZNF438_ENST00000413025.1_Silent_p.L726L|ZNF438_ENST00000452305.1_Silent_p.L716L|ZNF438_ENST00000442986.1_Silent_p.L726L|ZNF438_ENST00000444692.2_Silent_p.L716L|ZNF438_ENST00000538351.2_Silent_p.L677L|ZNF438_ENST00000436087.2_Silent_p.L726L|ZNF438_ENST00000331737.6_Silent_p.L716L|ZNF438_ENST00000375311.1_Silent_p.L290L			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	726					negative regulation of transcription, DNA-templated (GO:0045892)|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.L726L(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GCTGCCTTTTCAGTCTTGGAC	0.547																																																	1	Substitution - coding silent(1)	kidney(1)											94.0	93.0	93.0					10																	31134199		2203	4300	6503	SO:0001819	synonymous_variant	220929			AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.2178G>A	10.37:g.31134199C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Silent	SNP	ENST00000361310.3	37	CCDS7168.1																																																																																				0.547	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1		NM_182755	
ZNF521	25925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	22804557	22804557	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4995-01A-01D-1462-08	TCGA-BP-4995-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b9afac-e12e-49d2-96ac-274da6581d76	7e603e4c-0053-49f2-b4f3-07daa946fd34	g.chr18:22804557C>T	ENST00000361524.3	-	4	3473	c.3325G>A	c.(3325-3327)Gtc>Atc	p.V1109I	ZNF521_ENST00000538137.2_Missense_Mutation_p.V1109I|ZNF521_ENST00000584787.1_Missense_Mutation_p.V889I	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1109					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.V1109I(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CCGGGAGGGACGTTAATGCCT	0.547			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	1	Substitution - Missense(1)	kidney(1)											106.0	95.0	99.0					18																	22804557		2203	4300	6503	SO:0001583	missense	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3325G>A	18.37:g.22804557C>T	ENSP00000354794:p.Val1109Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	8.598	0.886081	0.17540	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.08102	3.15;3.13	5.98	-10.6	0.00265	.	0.906780	0.09669	N	0.771322	T	0.02494	0.0076	N	0.03608	-0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.46247	-0.9205	10	0.17832	T	0.49	-6.518	10.3168	0.43743	0.0:0.4136:0.2971:0.2893	.	1109	Q96K83	ZN521_HUMAN	I	1109;1143;1109	ENSP00000354794:V1109I;ENSP00000382352:V1109I	ENSP00000354794:V1109I	V	-	1	0	ZNF521	21058555	0.818000	0.29161	0.001000	0.08648	0.707000	0.40811	-0.039000	0.12124	-2.089000	0.00860	-0.312000	0.09012	GTC		0.547	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2		NM_015461	
