#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
ASIC2	40	hgsc.bcm.edu;ucsc.edu	37	17	31438954	31438961	+	Frame_Shift_Del	DEL	CAGGTACT	CAGGTACT	-	rs145139925|rs139598307	byFrequency	TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	CAGGTACT	CAGGTACT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr17:31438954_31438961delCAGGTACT	ENST00000359872.6	-	2	1441_1448	c.680_687delAGTACCTG	c.(679-687)gagtacctgfs	p.EYL227fs	ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000225823.2_Frame_Shift_Del_p.EYL278fs|RP11-40A13.1_ENST00000584688.1_RNA	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	227					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	CCCAGATGGGCAGGTACTCATCCTGCTG	0.587																																																	0																																										SO:0001589	frameshift_variant	0			AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.680_687delAGTACCTG	17.37:g.31438954_31438961delCAGGTACT	ENSP00000352934:p.Glu227fs	Somatic		WXS	Illumina HiSeq	Phase_I	E9PBX2|Q13553|Q6DJU1|Q8N3E2	Frame_Shift_Del	DEL	ENST00000359872.6	37	CCDS42296.1																																																																																				0.587	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1		NM_183377, NM_001094	
ALG10	84920	broad.mit.edu;hgsc.bcm.edu	37	12	34178892	34178892	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr12:34178892G>A	ENST00000266483.2	+	3	783	c.464G>A	c.(463-465)gGa>gAa	p.G155E	AC046130.1_ENST00000401300.2_RNA|RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	155					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)	p.G155E(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				ACAGAAGCAGGATCTATGTTT	0.353																																																	1	Substitution - Missense(1)	kidney(1)											142.0	146.0	145.0					12																	34178892		2203	4299	6502	SO:0001583	missense	84920			AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"""derepression of ITR1 expression 2 homolog (S. cerevisiae)"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""	603313	"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)"", ""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"""				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.464G>A	12.37:g.34178892G>A	ENSP00000266483:p.Gly155Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q6NS98|Q96DU0|Q96SM6	Missense_Mutation	SNP	ENST00000266483.2	37	CCDS41769.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534283	0.64972	.	.	ENSG00000139133	ENST00000266483	T	0.55413	0.52	3.13	3.13	0.36017	.	0.000000	0.85682	D	0.000000	T	0.72128	0.3422	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.73553	-0.3946	10	0.30854	T	0.27	.	12.1223	0.53897	0.0:0.0:1.0:0.0	.	155	Q5BKT4	AG10A_HUMAN	E	155	ENSP00000266483:G155E	ENSP00000266483:G155E	G	+	2	0	ALG10	34070159	1.000000	0.71417	0.985000	0.45067	0.863000	0.49368	9.431000	0.97494	1.492000	0.48499	0.184000	0.17185	GGA		0.353	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403309.1		NM_032834	
ALLC	55821	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	3727474	3727474	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr2:3727474T>C	ENST00000252505.3	+	5	350	c.188T>C	c.(187-189)gTc>gCc	p.V63A		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	82					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)	p.V63A(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GACTGGTGTGTCCTCAGGCTG	0.572										HNSCC(21;0.051)																																							1	Substitution - Missense(1)	kidney(1)											141.0	151.0	147.0					2																	3727474		2159	4241	6400	SO:0001583	missense	55821			AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.188T>C	2.37:g.3727474T>C	ENSP00000252505:p.Val63Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.145846	0.37923	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.77	5.77	0.91146	Allantoicase domain (1);Galactose-binding domain-like (1);	0.150888	0.56097	D	0.000024	T	0.58878	0.2153	M	0.85462	2.755	0.30053	N	0.811541	P	0.39044	0.656	B	0.37198	0.243	T	0.69573	-0.5109	9	0.87932	D	0	-18.0585	14.3292	0.66541	0.0:0.0:0.0:1.0	.	82	Q8N6M5	ALLC_HUMAN	A	63	.	ENSP00000252505:V63A	V	+	2	0	ALLC	3705349	0.570000	0.26651	0.098000	0.21074	0.029000	0.11900	5.496000	0.66918	2.326000	0.78906	0.533000	0.62120	GTC		0.572	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			
ANKRD36	375248	broad.mit.edu	37	2	97864367	97864367	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr2:97864367delA	ENST00000461153.2	+	44	2971	c.2727delA	c.(2725-2727)ggafs	p.G909fs	ANKRD36_ENST00000420699.2_Frame_Shift_Del_p.G909fs			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	909										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TAGCCAGAGGAAAAAAGGATG	0.308																																																	0													19.0	10.0	12.0					2																	97864367		692	1542	2234	SO:0001589	frameshift_variant	375248			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2727delA	2.37:g.97864367delA	ENSP00000419530:p.Gly909fs	Somatic		WXS	Illumina GAIIx	Phase_I	B4E3I8|Q6UX02|Q86X62|Q9HCD1	Frame_Shift_Del	DEL	ENST00000461153.2	37	CCDS54379.1																																																																																				0.308	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			
AP3D1	8943	broad.mit.edu	37	19	2115366	2115366	+	Missense_Mutation	SNP	C	C	T	rs371117784		TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr19:2115366C>T	ENST00000345016.5	-	20	2432	c.2201G>A	c.(2200-2202)cGg>cAg	p.R734Q	AP3D1_ENST00000356926.4_Missense_Mutation_p.R643Q|AP3D1_ENST00000350812.6_Missense_Mutation_p.R565Q|AP3D1_ENST00000355272.6_Missense_Mutation_p.R734Q	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	734					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.R734Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCTTCTGCCGGTGCCGCCG	0.642																																																	1	Substitution - Missense(1)	kidney(1)						C	GLN/ARG,GLN/ARG	0,4078		0,0,2039	36.0	44.0	41.0		1928,2201	-0.5	1.0	19		41	2,8354		0,2,4176	no	missense,missense	AP3D1	NM_001077523.1,NM_003938.5	43,43	0,2,6215	TT,TC,CC		0.0239,0.0,0.0161	possibly-damaging,possibly-damaging	643/1113,734/1154	2115366	2,12432	2039	4178	6217	SO:0001583	missense	8943			U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.2201G>A	19.37:g.2115366C>T	ENSP00000344055:p.Arg734Gln	Somatic		WXS	Illumina GAIIx	Phase_I	O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220423	0.39201	0.0	2.39E-4	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.62941	2.28;-0.01;1.53;-0.01	4.67	-0.523	0.11924	.	0.229367	0.41938	N	0.000783	T	0.41073	0.1143	L	0.42245	1.32	0.33621	D	0.604811	B;B;B	0.34015	0.086;0.435;0.276	B;B;B	0.28232	0.01;0.087;0.074	T	0.30736	-0.9968	10	0.27082	T	0.32	-25.6623	3.0195	0.06071	0.2062:0.2726:0.0:0.5212	.	734;734;643	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	Q	643;734;734;734;565	ENSP00000349398:R643Q;ENSP00000344055:R734Q;ENSP00000347416:R734Q;ENSP00000342321:R565Q	ENSP00000341579:R734Q	R	-	2	0	AP3D1	2066366	1.000000	0.71417	0.998000	0.56505	0.676000	0.39594	2.193000	0.42658	0.070000	0.16634	-0.448000	0.05591	CGG		0.642	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			
AQP7	364	hgsc.bcm.edu	37	9	33386465	33386465	+	Missense_Mutation	SNP	A	A	G	rs74668961		TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr9:33386465A>G	ENST00000537089.1	-	4	385	c.67T>C	c.(67-69)Tat>Cat	p.Y23H	AQP7_ENST00000541274.1_Missense_Mutation_p.Y23H|AQP7_ENST00000377425.4_Missense_Mutation_p.Y58H|AQP7_ENST00000539936.1_Missense_Mutation_p.Y115H			O14520	AQP7_HUMAN	aquaporin 7	115					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCCAGCACATAGACCGGAAAC	0.622																																																	0													31.0	30.0	31.0					9																	33386465		2203	4300	6503	SO:0001583	missense	364			AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.67T>C	9.37:g.33386465A>G	ENSP00000441619:p.Tyr23His	Somatic		WXS	Illumina HiSeq	Phase_I	Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37		.	.	.	.	.	.	.	.	.	.	-	19.28	3.796760	0.70567	.	.	ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000541274;ENST00000379503	D;D;D;D;D;D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04;-3.04;-3.04;-3.04;-3.04;-3.04	4.42	4.42	0.53409	Aquaporin-like (2);	0.054970	0.85682	D	0.000000	D	0.97158	0.9071	H	0.96889	3.9	0.58432	D	0.999999	D;P;P;P;P	0.89917	1.0;0.934;0.729;0.604;0.809	D;P;P;P;P	0.87578	0.998;0.802;0.802;0.616;0.707	D	0.97698	1.0183	10	0.66056	D	0.02	-20.8604	11.9819	0.53125	1.0:0.0:0.0:0.0	.	23;114;115;58;115	B7Z7F6;Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;.;AQP7_HUMAN	H	23;114;115;58;23;114;115;23;51	ENSP00000441619:Y23H;ENSP00000368821:Y114H;ENSP00000297988:Y115H;ENSP00000396111:Y58H;ENSP00000410138:Y23H;ENSP00000368820:Y114H;ENSP00000439534:Y115H;ENSP00000438860:Y23H;ENSP00000368817:Y51H	ENSP00000297988:Y115H	Y	-	1	0	AQP7	33376465	1.000000	0.71417	0.147000	0.22382	0.585000	0.36419	8.545000	0.90657	2.001000	0.58596	0.524000	0.50904	TAT		0.622	AQP7-202	KNOWN	basic	protein_coding	protein_coding			NM_001170	
ASPSCR1	79058	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	79954308	79954308	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr17:79954308G>T	ENST00000306739.4	+	7	616	c.519G>T	c.(517-519)aaG>aaT	p.K173N	ASPSCR1_ENST00000306729.7_Missense_Mutation_p.K173N|ASPSCR1_ENST00000580534.1_Missense_Mutation_p.K96N	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	173					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)		p.K173N(1)	ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TTGTCATGAAGTGCTACGACC	0.677			T	TFE3	alveolar soft part sarcoma																																			Dom	yes		17	17q25	79058	"""alveolar soft part sarcoma chromosome region, candidate 1"""		M	1	Substitution - Missense(1)	kidney(1)											31.0	32.0	32.0					17																	79954308		2203	4300	6503	SO:0001583	missense	79058			AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.519G>T	17.37:g.79954308G>T	ENSP00000302176:p.Lys173Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Missense_Mutation	SNP	ENST00000306739.4	37	CCDS11796.1	.	.	.	.	.	.	.	.	.	.	G	4.962	0.178776	0.09443	.	.	ENSG00000169696	ENST00000306739;ENST00000306729;ENST00000344865	T;T	0.24723	1.84;1.84	4.18	3.21	0.36854	.	0.330170	0.34906	N	0.003592	T	0.40670	0.1126	M	0.81802	2.56	0.36981	D	0.894283	D;D;D;D	0.61697	0.989;0.99;0.964;0.979	P;P;P;P	0.54174	0.728;0.744;0.538;0.728	T	0.52786	-0.8529	10	0.72032	D	0.01	-22.908	8.194	0.31385	0.1115:0.0:0.8885:0.0	.	96;173;173;96	Q9BZE9-3;Q9BZE9-2;Q9BZE9;C9JAL9	.;.;ASPC1_HUMAN;.	N	173;173;96	ENSP00000302176:K173N;ENSP00000306625:K173N	ENSP00000306625:K173N	K	+	3	2	ASPSCR1	77547597	0.969000	0.33509	0.763000	0.31416	0.066000	0.16364	1.891000	0.39738	1.126000	0.42016	0.555000	0.69702	AAG		0.677	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1		NM_024083	
ATP7B	540	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	52539139	52539139	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr13:52539139G>T	ENST00000242839.4	-	5	1894	c.1738C>A	c.(1738-1740)Cac>Aac	p.H580N	ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000344297.5_Missense_Mutation_p.H580N|ATP7B_ENST00000418097.2_Missense_Mutation_p.H580N|ATP7B_ENST00000400366.3_Missense_Mutation_p.H469N|ATP7B_ENST00000448424.2_Missense_Mutation_p.H580N|ATP7B_ENST00000542656.1_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	580	HMA 6. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)	p.H580N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TCTATGTTGTGGACACAGGAC	0.517									Wilson disease																																								1	Substitution - Missense(1)	kidney(1)											89.0	91.0	90.0					13																	52539139		2057	4209	6266	SO:0001583	missense	540	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.1738C>A	13.37:g.52539139G>T	ENSP00000242839:p.His580Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610460	0.87258	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000418097	D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9	5.95	5.1	0.69264	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);Heavy-metal-associated, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.80571	0.4648	N	0.01789	-0.72	0.80722	D	1	D;P;D;B;D;P	0.76494	0.98;0.584;0.999;0.345;0.995;0.849	D;B;D;P;D;D	0.97110	0.982;0.44;1.0;0.452;0.96;0.924	T	0.81651	-0.0836	10	0.25106	T	0.35	-23.8462	15.5679	0.76309	0.0669:0.0:0.9331:0.0	.	580;580;580;469;580;580	E7ET55;B7ZLR4;F5H748;P35670-3;P35670-2;P35670	.;.;.;.;.;ATP7B_HUMAN	N	580;469;580;580;580	ENSP00000242839:H580N;ENSP00000383217:H469N;ENSP00000342559:H580N;ENSP00000416738:H580N;ENSP00000393343:H580N	ENSP00000242839:H580N	H	-	1	0	ATP7B	51437140	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.583000	0.82559	2.824000	0.97209	0.655000	0.94253	CAC		0.517	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1		NM_000053	
B3GAT2	135152	broad.mit.edu;ucsc.edu	37	6	71571408	71571408	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr6:71571408G>C	ENST00000230053.6	-	4	1538	c.930C>G	c.(928-930)aaC>aaG	p.N310K	SMAP1_ENST00000370455.3_3'UTR	NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	310		Interaction with galactose moiety of substrate glycoprotein. {ECO:0000250}.			carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)	p.N310K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						ACTTTGGCTCGTTGGCTAGAT	0.493																																																	1	Substitution - Missense(1)	kidney(1)											172.0	150.0	158.0					6																	71571408		2203	4300	6503	SO:0001583	missense	135152			AB075843	CCDS4974.1	6q12	2014-07-08	2014-07-08		ENSG00000112309	ENSG00000112309	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	922	protein-coding gene	gene with protein product	"""glucuronosyltransferase S"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2"""	607497				12383500	Standard	NM_080742		Approved	GlcAT-S	uc003pfv.3	Q9NPZ5	OTTHUMG00000014997	ENST00000230053.6:c.930C>G	6.37:g.71571408G>C	ENSP00000230053:p.Asn310Lys	Somatic		WXS	Illumina GAIIx	Phase_I	Q5JS09|Q8TF38|Q96NK4	Missense_Mutation	SNP	ENST00000230053.6	37	CCDS4974.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535614	0.45176	.	.	ENSG00000112309	ENST00000230053	T	0.39997	1.05	5.51	-2.03	0.07365	.	0.000000	0.85682	D	0.000000	T	0.12390	0.0301	L	0.40543	1.245	0.80722	D	1	B	0.31485	0.325	B	0.18263	0.021	T	0.07501	-1.0769	10	0.27082	T	0.32	-14.6017	11.9391	0.52890	0.6352:0.0:0.3648:0.0	.	310	Q9NPZ5	B3GA2_HUMAN	K	310	ENSP00000230053:N310K	ENSP00000230053:N310K	N	-	3	2	B3GAT2	71628129	0.279000	0.24239	0.989000	0.46669	0.976000	0.68499	-0.222000	0.09190	-0.534000	0.06315	-0.300000	0.09419	AAC		0.493	B3GAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041150.2		NM_080742	
BHLHB9	80823	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	102004677	102004677	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chrX:102004677G>T	ENST00000372735.1	+	4	1339	c.754G>T	c.(754-756)Gct>Tct	p.A252S	BHLHB9_ENST00000447531.1_Missense_Mutation_p.A252S|BHLHB9_ENST00000361229.4_Missense_Mutation_p.A252S|BHLHB9_ENST00000457056.1_Missense_Mutation_p.A252S|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A252S			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	252					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.A252S(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCTGGCCTCCGCTGAAGAAAA	0.517																																																	1	Substitution - Missense(1)	kidney(1)											65.0	60.0	61.0					X																	102004677		2202	4299	6501	SO:0001583	missense	80823			AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.754G>T	X.37:g.102004677G>T	ENSP00000361820:p.Ala252Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.597011	0.00857	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73	4.68	1.91	0.25777	.	0.558447	0.15248	N	0.272513	T	0.09555	0.0235	L	0.44542	1.39	0.09310	N	1	B	0.21905	0.062	B	0.15870	0.014	T	0.32877	-0.9890	9	.	.	.	-16.6086	3.1333	0.06430	0.2302:0.0:0.558:0.2118	.	252	Q6PI77	BHLH9_HUMAN	S	252	ENSP00000403226:A252S;ENSP00000354675:A252S;ENSP00000405893:A252S;ENSP00000391722:A252S;ENSP00000361820:A252S	.	A	+	1	0	BHLHB9	101891333	0.928000	0.31464	0.001000	0.08648	0.107000	0.19398	0.466000	0.22019	0.266000	0.21894	0.597000	0.82753	GCT		0.517	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1		NM_030639	
BRCA2	675	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	32911477	32911477	+	Silent	SNP	A	A	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr13:32911477A>T	ENST00000380152.3	+	11	3218	c.2985A>T	c.(2983-2985)ggA>ggT	p.G995G	BRCA2_ENST00000544455.1_Silent_p.G995G			P51587	BRCA2_HUMAN	breast cancer 2, early onset	995	Interaction with NPM1.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.G995G(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AATGGGCAGGACTCTTAGGTC	0.323			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	2	Substitution - coding silent(2)	kidney(2)											52.0	58.0	56.0					13																	32911477		2203	4294	6497	SO:0001819	synonymous_variant	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.2985A>T	13.37:g.32911477A>T		Somatic		WXS	Illumina HiSeq	Phase_I	O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	37	CCDS9344.1																																																																																				0.323	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2		NM_000059	
FAM210A	125228	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	13681730	13681730	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr18:13681730T>C	ENST00000322247.3	-	3	734	c.347A>G	c.(346-348)cAa>cGa	p.Q116R	FAM210A_ENST00000402563.1_Missense_Mutation_p.Q116R|FAM210A_ENST00000588475.1_5'UTR	NM_001098801.1	NP_001092271.1	Q96ND0	F210A_HUMAN	family with sequence similarity 210, member A	116						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.Q116R(1)									AGATTTGTCTTGCAAAGGATC	0.398																																																	1	Substitution - Missense(1)	kidney(1)											130.0	134.0	133.0					18																	13681730		2203	4300	6503	SO:0001583	missense	0			AK055618	CCDS11866.1	18p11.21	2011-11-24	2011-11-24	2011-11-24	ENSG00000177150	ENSG00000177150			28346	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 19"""	C18orf19		14702039	Standard	NM_152352		Approved	MGC24180, HsT2329	uc010dli.3	Q96ND0	OTTHUMG00000131719	ENST00000322247.3:c.347A>G	18.37:g.13681730T>C	ENSP00000323635:p.Gln116Arg	Somatic		WXS	Illumina HiSeq	Phase_I	D3DUJ4	Missense_Mutation	SNP	ENST00000322247.3	37	CCDS11866.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.856295	0.91355	.	.	ENSG00000177150	ENST00000322247;ENST00000402563	T;T	0.25414	1.8;1.8	5.37	5.37	0.77165	.	0.053389	0.85682	D	0.000000	T	0.48333	0.1494	M	0.71581	2.175	0.58432	D	0.999998	D	0.76494	0.999	D	0.64144	0.922	T	0.48681	-0.9014	10	0.51188	T	0.08	-15.1636	15.3684	0.74541	0.0:0.0:0.0:1.0	.	116	Q96ND0	CR019_HUMAN	R	116	ENSP00000323635:Q116R;ENSP00000386115:Q116R	ENSP00000323635:Q116R	Q	-	2	0	C18orf19	13671730	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.061000	0.71148	2.016000	0.59253	0.533000	0.62120	CAA		0.398	FAM210A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254637.1		NM_152352	
CC2D1B	200014	hgsc.bcm.edu	37	1	52824974	52824975	+	Frame_Shift_Ins	INS	-	-	G	rs139316013		TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr1:52824974_52824975insG	ENST00000371586.2	-	10	1211_1212	c.1073_1074insC	c.(1072-1074)ccafs	p.P358fs	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Frame_Shift_Ins_p.P358fs	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	358						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GCTCCACGGCTGGGGGAATGAC	0.658																																																	0																																										SO:0001589	frameshift_variant	200014			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.1074dupC	1.37:g.52824979_52824979dupG	ENSP00000360642:p.Pro358fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Frame_Shift_Ins	INS	ENST00000371586.2	37	CCDS30714.1																																																																																				0.658	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1		NM_032449	
CCDC47	57003	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	61841511	61841511	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr17:61841511G>C	ENST00000225726.5	-	4	794	c.412C>G	c.(412-414)Cta>Gta	p.L138V	CCDC47_ENST00000403162.3_Missense_Mutation_p.L138V|CCDC47_ENST00000582252.1_Missense_Mutation_p.L138V	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	138					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.L138V(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						AAAATTTCTAGATAATAACTC	0.393																																																	1	Substitution - Missense(1)	kidney(1)											110.0	110.0	110.0					17																	61841511		2203	4300	6503	SO:0001583	missense	57003			AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.412C>G	17.37:g.61841511G>C	ENSP00000225726:p.Leu138Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Missense_Mutation	SNP	ENST00000225726.5	37	CCDS11643.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.934041	0.34096	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	6.08	3.99	0.46301	.	0.042044	0.85682	D	0.000000	T	0.29684	0.0741	N	0.11023	0.085	0.43678	D	0.996116	B;B	0.26147	0.143;0.015	B;B	0.28638	0.092;0.02	T	0.09015	-1.0694	9	0.26408	T	0.33	-8.6853	6.8461	0.23988	0.0892:0.0:0.5857:0.3252	.	138;138	Q96A33-2;Q96A33	.;CCD47_HUMAN	V	138	.	ENSP00000225726:L138V	L	-	1	2	CCDC47	59195243	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	3.808000	0.55598	1.579000	0.49836	0.591000	0.81541	CTA		0.393	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2		NM_020198	
CHD7	55636	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	61769234	61769234	+	Silent	SNP	T	T	C			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr8:61769234T>C	ENST00000423902.2	+	34	7874	c.7395T>C	c.(7393-7395)ttT>ttC	p.F2465F	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000529472.1_3'UTR	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2465					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.F2465F(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTTCAAAGTTTATCTTGCCTA	0.423																																																	2	Substitution - coding silent(2)	kidney(2)											166.0	161.0	162.0					8																	61769234		1879	4098	5977	SO:0001819	synonymous_variant	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.7395T>C	8.37:g.61769234T>C		Somatic		WXS	Illumina HiSeq	Phase_I	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	CCDS47865.1																																																																																				0.423	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2		XM_098762	
CLRN3	119467	hgsc.bcm.edu;ucsc.edu	37	10	129682022	129682023	+	Frame_Shift_Ins	INS	-	-	TGCG			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr10:129682022_129682023insTGCG	ENST00000368671.3	-	2	508_509	c.346_347insCGCA	c.(346-348)atcfs	p.I116fs		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	116						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				AGGGTTGCTGATGCTGTTGTAG	0.54																																																	0																																										SO:0001589	frameshift_variant	119467			BC029478	CCDS7656.1	10q26.2	2006-11-24	2006-11-23	2006-11-23	ENSG00000180745	ENSG00000180745			20795	protein-coding gene	gene with protein product			"""transmembrane protein 12"""	TMEM12		12145752, 12080385	Standard	NM_152311		Approved	MGC32871, USH3AL1	uc001lka.1	Q8NCR9	OTTHUMG00000019253	ENST00000368671.3:c.346_347insCGCA	10.37:g.129682022_129682023insTGCG	ENSP00000357660:p.Ile116fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q6MZX8	Frame_Shift_Ins	INS	ENST00000368671.3	37	CCDS7656.1																																																																																				0.540	CLRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050987.1		NM_152311	
CLSTN3	9746	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	7301668	7301668	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr12:7301668C>A	ENST00000266546.6	+	13	2398	c.1948C>A	c.(1948-1950)Cat>Aat	p.H650N	CLSTN3_ENST00000537408.1_Missense_Mutation_p.H662N	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	650					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.H650N(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGGCACTGCTCATTTTGCCCG	0.582																																																	1	Substitution - Missense(1)	kidney(1)											85.0	68.0	74.0					12																	7301668		2203	4300	6503	SO:0001583	missense	9746			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1948C>A	12.37:g.7301668C>A	ENSP00000266546:p.His650Asn	Somatic		WXS	Illumina HiSeq	Phase_I	D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.579083	0.65878	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.32753	1.44;1.44	5.56	5.56	0.83823	.	0.052276	0.85682	D	0.000000	T	0.32556	0.0833	L	0.46157	1.445	0.80722	D	1	P;B	0.43477	0.808;0.112	B;B	0.39706	0.307;0.097	T	0.05209	-1.0899	10	0.44086	T	0.13	-18.8984	19.5349	0.95247	0.0:1.0:0.0:0.0	.	662;650	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	N	650;662	ENSP00000266546:H650N;ENSP00000440679:H662N	ENSP00000266546:H650N	H	+	1	0	CLSTN3	7192935	1.000000	0.71417	0.964000	0.40570	0.945000	0.59286	6.089000	0.71384	2.618000	0.88619	0.561000	0.74099	CAT		0.582	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2		NM_014718	
CNTNAP2	26047	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	146829512	146829512	+	Missense_Mutation	SNP	G	G	A	rs200673864		TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr7:146829512G>A	ENST00000361727.3	+	8	1775	c.1259G>A	c.(1258-1260)gGc>gAc	p.G420D		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	420	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.G420D(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GATAATTTGGGCAATGTGGAG	0.478										HNSCC(39;0.1)																																							1	Substitution - Missense(1)	kidney(1)											125.0	110.0	115.0					7																	146829512		2203	4300	6503	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1259G>A	7.37:g.146829512G>A	ENSP00000354778:p.Gly420Asp	Somatic		WXS	Illumina HiSeq	Phase_I	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640482	0.87859	.	.	ENSG00000174469	ENST00000361727	T	0.72725	-0.68	5.7	5.7	0.88788	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000008	D	0.82393	0.5027	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.77718	-0.2483	10	0.21540	T	0.41	.	18.3986	0.90507	0.0:0.0:1.0:0.0	.	420	Q9UHC6	CNTP2_HUMAN	D	420	ENSP00000354778:G420D	ENSP00000354778:G420D	G	+	2	0	CNTNAP2	146460445	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.318000	0.96334	2.686000	0.91538	0.591000	0.81541	GGC		0.478	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			
CUL3	8452	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	225368421	225368421	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr2:225368421G>C	ENST00000264414.4	-	9	1663	c.1325C>G	c.(1324-1326)aCa>aGa	p.T442R	CUL3_ENST00000409096.1_Missense_Mutation_p.T418R|CUL3_ENST00000409777.1_Missense_Mutation_p.T418R|CUL3_ENST00000344951.4_Missense_Mutation_p.T376R	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	442					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.T442R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ACTTTTATTTGTGAGAAGTCT	0.313																																																	1	Substitution - Missense(1)	kidney(1)											131.0	117.0	122.0					2																	225368421		2202	4298	6500	SO:0001583	missense	8452			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1325C>G	2.37:g.225368421G>C	ENSP00000264414:p.Thr442Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.054148	0.55218	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	5.67	5.67	0.87782	Cullin, N-terminal (1);Cullin homology (3);	0.044682	0.85682	D	0.000000	T	0.63094	0.2482	N	0.19112	0.55	0.80722	D	1	P;P;P	0.44090	0.826;0.469;0.469	B;B;B	0.39258	0.195;0.295;0.295	T	0.62978	-0.6739	10	0.29301	T	0.29	.	19.7689	0.96353	0.0:0.0:1.0:0.0	.	376;420;442	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	R	442;376;418;418	ENSP00000264414:T442R;ENSP00000343601:T376R;ENSP00000387200:T418R;ENSP00000386525:T418R	ENSP00000264414:T442R	T	-	2	0	CUL3	225076665	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.757000	0.62213	2.656000	0.90262	0.650000	0.86243	ACA		0.313	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			
DDX46	9879	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	134126242	134126242	+	Splice_Site	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr5:134126242G>A	ENST00000354283.4	+	13	1761	c.1626G>A	c.(1624-1626)caG>caA	p.Q542Q	DDX46_ENST00000452510.2_Splice_Site_p.Q542Q|DDX46_ENST00000509178.1_3'UTR			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	542	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.Q542Q(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTGAACCCCAGGTAATCATTA	0.338																																					Colon(13;391 453 4901 21675 24897)												1	Substitution - coding silent(1)	kidney(1)											74.0	76.0	75.0					5																	134126242		2203	4300	6503	SO:0001630	splice_region_variant	9879				CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.1626+1G>A	5.37:g.134126242G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O94894|Q96EI0|Q9Y658	Silent	SNP	ENST00000354283.4	37	CCDS34240.1																																																																																				0.338	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1		NM_014829	Silent
DNAJC2	27000	broad.mit.edu;hgsc.bcm.edu	37	7	102982243	102982243	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr7:102982243T>C	ENST00000379263.3	-	2	473	c.223A>G	c.(223-225)Atg>Gtg	p.M75V	DNAJC2_ENST00000412522.1_Missense_Mutation_p.M75V|DNAJC2_ENST00000249270.7_Missense_Mutation_p.M75V	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	75					'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)	p.M75V(2)		endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						GTTTTCAGCATGGGAAACTCT	0.368																																																	2	Substitution - Missense(2)	kidney(2)											133.0	123.0	126.0					7																	102982243		1827	4088	5915	SO:0001583	missense	27000			X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.223A>G	7.37:g.102982243T>C	ENSP00000368565:p.Met75Val	Somatic		WXS	Illumina HiSeq	Phase_I	A4VCI0|Q9BVX1	Missense_Mutation	SNP	ENST00000379263.3	37	CCDS43628.1	.	.	.	.	.	.	.	.	.	.	T	12.84	2.059966	0.36373	.	.	ENSG00000105821	ENST00000249270;ENST00000379263;ENST00000537811;ENST00000454277;ENST00000412522	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.01	5.01	0.66863	Heat shock protein DnaJ, N-terminal (2);	0.041854	0.85682	D	0.000000	T	0.23133	0.0559	M	0.71581	2.175	0.53005	D	0.999969	B;B;B	0.19200	0.026;0.008;0.034	B;B;B	0.17098	0.012;0.014;0.017	T	0.04693	-1.0933	10	0.20046	T	0.44	-10.9008	10.8415	0.46718	0.0:0.0:0.158:0.8419	.	75;75;75	Q99543-2;F2Z3H0;Q99543	.;.;DNJC2_HUMAN	V	75;75;75;1;75	ENSP00000249270:M75V;ENSP00000368565:M75V;ENSP00000399058:M1V;ENSP00000406275:M75V	ENSP00000249270:M75V	M	-	1	0	DNAJC2	102769479	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.688000	0.46984	1.899000	0.54978	0.377000	0.23210	ATG		0.368	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			
DOCK8	81704	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	340260	340261	+	Missense_Mutation	DNP	CC	CC	AA	rs377334031		TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr9:340260_340261CC>AA	ENST00000453981.1	+	14	1730_1731	c.1618_1619CC>AA	c.(1618-1620)CCg>AAg	p.P540K	DOCK8_ENST00000469391.1_Missense_Mutation_p.P472K|DOCK8_ENST00000432829.2_Missense_Mutation_p.P472K			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	540					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.P472T(1)|p.P472Q(1)|p.P540>?(1)|p.P472>?(1)|p.P540Q(1)|p.P540T(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCGGACACGCCCGCACAAAGAG	0.495																																																	6	Substitution - Missense(4)|Complex(2)	kidney(6)																																								SO:0001583	missense	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	Exception_encountered	9.37:g.340260_340261delinsAA	ENSP00000408464:p.Pro540Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	CCDS6440.2																																																																																				0.495	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5		XM_036307	
DONSON	29980	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	34956957	34956957	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr21:34956957C>T	ENST00000303071.5	-	4	790	c.724G>A	c.(724-726)Gct>Act	p.A242T	DONSON_ENST00000303113.6_Missense_Mutation_p.A228T|DONSON_ENST00000432378.1_Missense_Mutation_p.A242T|DONSON_ENST00000453626.1_Missense_Mutation_p.A242T	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	242					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)		p.A242T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						GTCTTTCCAGCCATTTTTCTA	0.433																																																	1	Substitution - Missense(1)	kidney(1)											112.0	103.0	106.0					21																	34956957		2203	4300	6503	SO:0001583	missense	29980			AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.724G>A	21.37:g.34956957C>T	ENSP00000307143:p.Ala242Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Missense_Mutation	SNP	ENST00000303071.5	37	CCDS13632.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	14.78|14.78|14.78	2.637442|2.637442|2.637442	0.47049|0.47049|0.47049	.|.|.	.|.|.	ENSG00000159147|ENSG00000159147|ENSG00000159147	ENST00000303113;ENST00000453626;ENST00000303071;ENST00000432378|ENST00000440810|ENST00000437395	.|.|.	.|.|.	.|.|.	5.99|5.99|5.99	-1.42|-1.42|-1.42	0.08913|0.08913|0.08913	.|.|.	0.570720|.|.	0.19909|.|.	N|.|.	0.103338|.|.	T|T|.	0.31167|0.31167|.	0.0788|0.0788|.	N|N|N	0.25890|0.25890|0.25890	0.77|0.77|0.77	0.33228|0.33228|0.33228	D|D|D	0.55561|0.55561|0.55561	B;B;B|.|.	0.12013|.|.	0.001;0.005;0.001|.|.	B;B;B|.|.	0.13407|.|.	0.005;0.009;0.005|.|.	T|T|.	0.38134|0.38134|.	-0.9675|-0.9675|.	9|5|.	0.17832|.|.	T|.|.	0.49|.|.	4.4198|4.4198|4.4198	5.1758|5.1758|5.1758	0.15133|0.15133|0.15133	0.2099:0.4935:0.0:0.2966|0.2099:0.4935:0.0:0.2966|0.2099:0.4935:0.0:0.2966	.|.|.	228;242;242|.|.	F8W8A5;C9J4K5;Q9NYP3|.|.	.;.;DONS_HUMAN|.|.	T|D|X	228;242;242;242|100|212	.|.|.	ENSP00000307143:A242T|.|.	A|G|W	-|-|-	1|2|3	0|0|0	DONSON|DONSON|DONSON	33878827|33878827|33878827	0.724000|0.724000|0.724000	0.28038|0.28038|0.28038	0.946000|0.946000|0.946000	0.38457|0.38457|0.38457	0.980000|0.980000|0.980000	0.70556|0.70556|0.70556	0.005000|0.005000|0.005000	0.13129|0.13129|0.13129	-0.624000|-0.624000|-0.624000	0.05611|0.05611|0.05611	-0.812000|-0.812000|-0.812000	0.03155|0.03155|0.03155	GCT|GGC|TGG		0.433	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141184.1		NM_017613	
DUOX1	53905	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	45454451	45454451	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr15:45454451A>T	ENST00000321429.4	+	32	4531	c.4124A>T	c.(4123-4125)cAg>cTg	p.Q1375L	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.Q1375L|DUOX1_ENST00000561166.1_Missense_Mutation_p.Q1021L	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1375	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.Q1375L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GAGGGCCACCAGGAGTGGCAT	0.542																																																	1	Substitution - Missense(1)	kidney(1)											121.0	102.0	108.0					15																	45454451		2198	4298	6496	SO:0001583	missense	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.4124A>T	15.37:g.45454451A>T	ENSP00000317997:p.Gln1375Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.410784	0.83340	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.87103	-2.21;-2.21	4.23	4.23	0.50019	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.93966	0.8068	M	0.92268	3.29	0.80722	D	1	D	0.67145	0.996	D	0.68039	0.955	D	0.94834	0.7999	10	0.87932	D	0	-25.7778	11.5699	0.50829	1.0:0.0:0.0:0.0	.	1375	Q9NRD9	DUOX1_HUMAN	L	1375	ENSP00000317997:Q1375L;ENSP00000373689:Q1375L	ENSP00000317997:Q1375L	Q	+	2	0	DUOX1	43241743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.076000	0.94009	1.903000	0.55091	0.459000	0.35465	CAG		0.542	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1		NM_017434	
EDDM3B	64184	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	21238699	21238699	+	Silent	SNP	C	C	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr14:21238699C>T	ENST00000326783.3	+	2	488	c.390C>T	c.(388-390)gaC>gaT	p.D130D		NM_022360.4	NP_071755.1	P56851	EP3B_HUMAN	epididymal protein 3B	130						extracellular region (GO:0005576)		p.D130D(1)		central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						GTAGCATGGACGGGTATGTTG	0.413																																																	1	Substitution - coding silent(1)	kidney(1)											87.0	76.0	80.0					14																	21238699		2203	4300	6503	SO:0001819	synonymous_variant	64184			X76386	CCDS9557.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181552	ENSG00000181552			19223	protein-coding gene	gene with protein product		611582	"""family with sequence similarity 12, member B (epididymal)"""	FAM12B		7514008	Standard	NM_022360		Approved	HE3-BETA	uc001vyd.3	P56851	OTTHUMG00000029583	ENST00000326783.3:c.390C>T	14.37:g.21238699C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A0PK89	Silent	SNP	ENST00000326783.3	37	CCDS9557.1																																																																																				0.413	EDDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073745.2			
EIF2AK2	5610	hgsc.bcm.edu;ucsc.edu	37	2	37368712	37368712	+	Frame_Shift_Del	DEL	C	C	-	rs138439257		TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr2:37368712delC	ENST00000233057.4	-	5	695	c.373delG	c.(373-375)gtgfs	p.V125fs	EIF2AK2_ENST00000405334.1_Frame_Shift_Del_p.V125fs|EIF2AK2_ENST00000395127.2_Frame_Shift_Del_p.V125fs	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	125	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				GGCCCATGCACCCCCGATGCA	0.363																																																	0													143.0	140.0	141.0					2																	37368712		2203	4300	6503	SO:0001589	frameshift_variant	5610			BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 83"""	176871	"""protein kinase, interferon-inducible double stranded RNA dependent"""	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.373delG	2.37:g.37368712delC	ENSP00000233057:p.Val125fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Frame_Shift_Del	DEL	ENST00000233057.4	37	CCDS1786.1																																																																																				0.363	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2		NM_002759	
EMR3	84658	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	14740973	14740973	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr19:14740973T>A	ENST00000253673.5	-	14	1790	c.1690A>T	c.(1690-1692)Aca>Tca	p.T564S	EMR3_ENST00000344373.4_Missense_Mutation_p.T512S|EMR3_ENST00000599900.1_Missense_Mutation_p.T349S|EMR3_ENST00000443157.2_Missense_Mutation_p.T438S	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	564					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.T564S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AGACACCATGTGCAGCCCAGG	0.502																																																	1	Substitution - Missense(1)	kidney(1)											99.0	86.0	91.0					19																	14740973		2203	4300	6503	SO:0001583	missense	84658			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1690A>T	19.37:g.14740973T>A	ENSP00000253673:p.Thr564Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000253673.5	37	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.005182	0.35415	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.48201	0.82;0.82;0.82	3.76	3.76	0.43208	GPCR, family 2-like (1);	.	.	.	.	T	0.48447	0.1500	N	0.20304	0.555	0.32996	D	0.525614	D;D;B	0.69078	0.995;0.997;0.384	P;D;B	0.69824	0.893;0.966;0.272	T	0.52170	-0.8611	9	0.22109	T	0.4	.	10.7634	0.46279	0.0:0.0:0.0:1.0	.	438;512;564	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	S	438;564;512	ENSP00000396208:T438S;ENSP00000253673:T564S;ENSP00000340758:T512S	ENSP00000253673:T564S	T	-	1	0	EMR3	14601973	1.000000	0.71417	0.989000	0.46669	0.175000	0.22909	6.542000	0.73869	1.700000	0.51204	0.533000	0.62120	ACA		0.502	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1		NM_032571	
EPHB1	2047	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	134967305	134967305	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr3:134967305A>T	ENST00000398015.3	+	14	3014	c.2644A>T	c.(2644-2646)Atc>Ttc	p.I882F	EPHB1_ENST00000493838.1_Missense_Mutation_p.I443F	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	882	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.I882F(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AGATAAGATGATCCGGAACCC	0.557																																																	2	Substitution - Missense(2)	kidney(2)											26.0	31.0	30.0					3																	134967305		2179	4297	6476	SO:0001583	missense	2047			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2644A>T	3.37:g.134967305A>T	ENSP00000381097:p.Ile882Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.585592	0.86748	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.62364	0.03;0.03	5.65	5.65	0.86999	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054081	0.64402	D	0.000001	T	0.56717	0.2004	L	0.56396	1.775	0.80722	D	1	P	0.48640	0.913	B	0.35182	0.197	T	0.66240	-0.5973	10	0.87932	D	0	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	882	P54762	EPHB1_HUMAN	F	882;443	ENSP00000381097:I882F;ENSP00000419574:I443F	ENSP00000381097:I882F	I	+	1	0	EPHB1	136449995	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.087000	0.94110	2.371000	0.80710	0.533000	0.62120	ATC		0.557	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1		NM_004441	
EPN2	22905	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	19186717	19186717	+	Silent	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr17:19186717G>A	ENST00000314728.5	+	3	769	c.285G>A	c.(283-285)caG>caA	p.Q95Q	EPN2_ENST00000395618.3_Intron|EPN2_ENST00000395626.1_Silent_p.Q95Q|EPN2_ENST00000575595.1_Intron|EPN2_ENST00000571254.1_Silent_p.Q95Q|EPN2_ENST00000395620.2_Silent_p.Q95Q|EPN2_ENST00000347697.2_Silent_p.Q95Q	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	95	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)	p.Q95Q(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TGGCCCAGCAGTGCCGGGAGA	0.567																																																	1	Substitution - coding silent(1)	kidney(1)											95.0	75.0	82.0					17																	19186717		2203	4300	6503	SO:0001819	synonymous_variant	22905			AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"""Eps15 binding protein"""	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.285G>A	17.37:g.19186717G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Silent	SNP	ENST00000314728.5	37	CCDS11203.1																																																																																				0.567	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3		NM_014964	
EXTL3	2137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	28575522	28575522	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr8:28575522A>C	ENST00000220562.4	+	3	2848	c.1946A>C	c.(1945-1947)gAa>gCa	p.E649A	EXTL3_ENST00000523149.1_Missense_Mutation_p.E265A|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	649					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)	p.E649A(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TCTGGCAAGGAATTTCAGGCA	0.547																																																	1	Substitution - Missense(1)	kidney(1)											94.0	92.0	93.0					8																	28575522		2203	4300	6503	SO:0001583	missense	2137			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1946A>C	8.37:g.28575522A>C	ENSP00000220562:p.Glu649Ala	Somatic		WXS	Illumina HiSeq	Phase_I	D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	A	19.92	3.916099	0.73098	.	.	ENSG00000012232	ENST00000523149;ENST00000220562	D;D	0.96073	-3.43;-3.9	5.74	5.74	0.90152	.	0.113411	0.64402	D	0.000007	D	0.97303	0.9118	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.97735	1.0205	10	0.62326	D	0.03	-34.0406	16.3426	0.83092	1.0:0.0:0.0:0.0	.	649	O43909	EXTL3_HUMAN	A	265;649	ENSP00000428691:E265A;ENSP00000220562:E649A	ENSP00000220562:E649A	E	+	2	0	EXTL3	28631441	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.267000	0.95665	2.317000	0.78254	0.460000	0.39030	GAA		0.547	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3		NM_001440	
FBN1	2200	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	48779393	48779393	+	Silent	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr15:48779393G>A	ENST00000316623.5	-	29	3923	c.3468C>T	c.(3466-3468)atC>atT	p.I1156I		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1156	EGF-like 18; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.I1156I(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CACATTCATTGATGTCTGTCG	0.458																																																	1	Substitution - coding silent(1)	kidney(1)											84.0	78.0	80.0					15																	48779393		2198	4296	6494	SO:0001819	synonymous_variant	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3468C>T	15.37:g.48779393G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	CCDS32232.1																																																																																				0.458	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			
FBXW8	26259	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	117448166	117448167	+	Missense_Mutation	DNP	GA	GA	AC			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr12:117448166_117448167GA>AC	ENST00000309909.5	+	8	1360_1361	c.1278_1279GA>AC	c.(1276-1281)ttGAag>ttACag	p.K427Q	FBXW8_ENST00000455858.2_Missense_Mutation_p.K361Q			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	427					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)		p.K427Q(1)|p.L426L(1)|p.L426>?(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GCCGCCTCTTGAAGCTGGGTAA	0.55																																																	3	Substitution - Missense(1)|Substitution - coding silent(1)|Complex(1)	kidney(3)																																								SO:0001583	missense	26259			AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13597	protein-coding gene	gene with protein product		609073	"""F-box only protein 29"", ""F-box and WD-40 domain protein 8"""	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	Exception_encountered	12.37:g.117448166_117448167delinsAC	ENSP00000310686:p.Lys427Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q9UK95	Silent|Missense_Mutation	SNP	ENST00000309909.5	37	CCDS9182.1																																																																																				0.550	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403561.1		NM_012174	
GLI2	2736	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	121747767	121747767	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr2:121747767C>T	ENST00000452319.1	+	14	4337	c.4277C>T	c.(4276-4278)tCg>tTg	p.S1426L	GLI2_ENST00000361492.4_Missense_Mutation_p.S1426L|GLI2_ENST00000314490.11_Intron					GLI family zinc finger 2									p.S1426L(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AACATGGGGTCGGTGCCTCCC	0.657																																																	1	Substitution - Missense(1)	kidney(1)											36.0	39.0	38.0					2																	121747767		2201	4300	6501	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.4277C>T	2.37:g.121747767C>T	ENSP00000390436:p.Ser1426Leu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000452319.1	37	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	0.974	-0.699338	0.03279	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.14516	2.5;2.5	4.57	3.68	0.42216	.	0.671762	0.12373	N	0.474630	T	0.12902	0.0313	L	0.51422	1.61	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.06405	0.001;0.002	T	0.23655	-1.0182	9	.	.	.	.	7.6513	0.28350	0.0:0.7416:0.1672:0.0912	.	1426;1081	P10070;P10070-2	GLI2_HUMAN;.	L	1426	ENSP00000390436:S1426L;ENSP00000354586:S1426L	.	S	+	2	0	GLI2	121464237	0.965000	0.33210	0.001000	0.08648	0.009000	0.06853	1.198000	0.32223	1.112000	0.41740	0.455000	0.32223	TCG		0.657	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3		NM_005270	
GPATCH8	23131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42477630	42477630	+	Silent	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr17:42477630G>A	ENST00000591680.1	-	8	1845	c.1815C>T	c.(1813-1815)ggC>ggT	p.G605G	GPATCH8_ENST00000434000.1_Silent_p.G527G	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	605							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G605G(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CAGGATCTAGGCCTTGGAGAT	0.448											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	kidney(1)											45.0	47.0	46.0					17																	42477630		2203	4300	6503	SO:0001819	synonymous_variant	23131			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.1815C>T	17.37:g.42477630G>A		Somatic	909	WXS	Illumina HiSeq	Phase_I	B9EGP9|O60300|Q8TB99	Silent	SNP	ENST00000591680.1	37	CCDS32666.1																																																																																				0.448	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1		NM_001002909	
GPR65	8477	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	88477438	88477438	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr14:88477438T>G	ENST00000267549.3	+	2	805	c.247T>G	c.(247-249)Tct>Gct	p.S83A	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	83					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S83A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CTGGACTTTCTCTCCTGCCTT	0.408																																																	1	Substitution - Missense(1)	kidney(1)											185.0	181.0	182.0					14																	88477438		2203	4300	6503	SO:0001583	missense	8477			U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.247T>G	14.37:g.88477438T>G	ENSP00000267549:p.Ser83Ala	Somatic		WXS	Illumina HiSeq	Phase_I	O75819	Missense_Mutation	SNP	ENST00000267549.3	37	CCDS9879.1	.	.	.	.	.	.	.	.	.	.	T	18.16	3.562902	0.65538	.	.	ENSG00000140030	ENST00000267549	T	0.44083	0.93	5.82	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	0.377652	0.22584	N	0.058172	T	0.47507	0.1449	M	0.82323	2.585	0.27843	N	0.941011	P	0.35192	0.489	B	0.39379	0.298	T	0.51818	-0.8657	10	0.87932	D	0	.	7.7612	0.28953	0.0:0.0748:0.1376:0.7876	.	83	Q8IYL9	PSYR_HUMAN	A	83	ENSP00000267549:S83A	ENSP00000267549:S83A	S	+	1	0	GPR65	87547191	1.000000	0.71417	0.944000	0.38274	0.915000	0.54546	3.541000	0.53618	1.007000	0.39238	0.528000	0.53228	TCT		0.408	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4			
HEATR2	54919	broad.mit.edu;ucsc.edu	37	7	780466	780466	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr7:780466C>T	ENST00000297440.6	+	3	811	c.791C>T	c.(790-792)gCg>gTg	p.A264V	HEATR2_ENST00000438961.1_3'UTR|HEATR2_ENST00000313147.5_Missense_Mutation_p.A264V	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	264						cytoplasm (GO:0005737)		p.A264V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		GTCCGGCGGGCGGTGGCCTCC	0.637																																																	1	Substitution - Missense(1)	kidney(1)											150.0	153.0	152.0					7																	780466		2203	4300	6503	SO:0001583	missense	54919			AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.791C>T	7.37:g.780466C>T	ENSP00000297440:p.Ala264Val	Somatic		WXS	Illumina GAIIx	Phase_I	Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	37	CCDS34580.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740187	0.69304	.	.	ENSG00000164818	ENST00000297440;ENST00000313147;ENST00000537862	T;T	0.22539	1.95;1.95	4.86	4.86	0.63082	Armadillo-like helical (1);Armadillo-type fold (1);	0.338293	0.23684	N	0.045597	T	0.37073	0.0990	M	0.77820	2.39	0.80722	D	1	D;D	0.65815	0.994;0.995	P;P	0.49708	0.62;0.552	T	0.25676	-1.0125	10	0.33940	T	0.23	-19.713	17.9228	0.88972	0.0:1.0:0.0:0.0	.	264;10	Q86Y56;F5H8D4	HEAT2_HUMAN;.	V	264;264;10	ENSP00000297440:A264V;ENSP00000321451:A264V	ENSP00000297440:A264V	A	+	2	0	HEATR2	746992	0.998000	0.40836	0.959000	0.39883	0.008000	0.06430	3.916000	0.56416	2.389000	0.81357	0.655000	0.94253	GCG		0.637	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1		NM_017802	
KANSL1	284058	hgsc.bcm.edu;ucsc.edu	37	17	44144984	44144984	+	Frame_Shift_Del	DEL	C	C	-	rs587670960		TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr17:44144984delC	ENST00000262419.6	-	5	2053	c.1583delG	c.(1582-1584)ggtfs	p.G528fs	KANSL1_ENST00000572904.1_Frame_Shift_Del_p.G528fs|KANSL1_ENST00000432791.1_Frame_Shift_Del_p.G528fs|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Frame_Shift_Del_p.G528fs|KANSL1_ENST00000574590.1_Frame_Shift_Del_p.G528fs	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	528					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TGAAATATGACCAATAATACG	0.398																																																	0													106.0	96.0	99.0					17																	44144984		2203	4300	6503	SO:0001589	frameshift_variant	0			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1583delG	17.37:g.44144984delC	ENSP00000262419:p.Gly528fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Frame_Shift_Del	DEL	ENST00000262419.6	37	CCDS11503.1																																																																																				0.398	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1		NM_015443	
KRT36	8689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	39643672	39643672	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr17:39643672C>A	ENST00000328119.6	-	5	917	c.918G>T	c.(916-918)caG>caT	p.Q306H	KRT36_ENST00000393986.2_Missense_Mutation_p.Q256H	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	306	Coil 2.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)	p.Q306H(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				TGATCTCCGTCTGGCAGCACT	0.607																																																	1	Substitution - Missense(1)	kidney(1)											74.0	56.0	62.0					17																	39643672		2203	4300	6503	SO:0001583	missense	8689			Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.918G>T	17.37:g.39643672C>A	ENSP00000329165:p.Gln306His	Somatic		WXS	Illumina HiSeq	Phase_I	Q86XG4	Missense_Mutation	SNP	ENST00000328119.6	37	CCDS11395.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070124	0.76301	.	.	ENSG00000126337	ENST00000393986;ENST00000328119	D;D	0.89415	-2.51;-2.51	6.07	6.07	0.98685	Filament (1);	0.000000	0.48286	D	0.000197	D	0.93858	0.8035	M	0.81682	2.555	0.30278	N	0.791593	P	0.45011	0.848	P	0.58391	0.838	D	0.92252	0.5809	10	0.87932	D	0	.	15.8746	0.79151	0.0:0.7645:0.2355:0.0	.	306	O76013	KRT36_HUMAN	H	256;306	ENSP00000377555:Q256H;ENSP00000329165:Q306H	ENSP00000329165:Q306H	Q	-	3	2	KRT36	36897198	0.067000	0.21026	0.995000	0.50966	0.991000	0.79684	0.853000	0.27777	2.884000	0.98904	0.655000	0.94253	CAG		0.607	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1		NM_003771	
LEPR	3953	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	66067338	66067338	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr1:66067338C>T	ENST00000349533.6	+	9	1443	c.1258C>T	c.(1258-1260)Cat>Tat	p.H420Y	LEPR_ENST00000371059.3_Missense_Mutation_p.H420Y|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371060.3_Missense_Mutation_p.H420Y|LEPR_ENST00000344610.8_Missense_Mutation_p.H420Y|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.H420Y	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.H420Y(3)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGAATGCCATCATCGCTATGC	0.353																																																	3	Substitution - Missense(3)	kidney(3)											77.0	74.0	75.0					1																	66067338		2201	4299	6500	SO:0001583	missense	3953			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.1258C>T	1.37:g.66067338C>T	ENSP00000330393:p.His420Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	CCDS631.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663750	0.67700	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12	4.73	4.73	0.59995	Immunoglobulin C2-set-like, ligand-binding (1);	0.317827	0.34025	N	0.004323	T	0.78761	0.4334	L	0.57536	1.79	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.72625	0.978;0.963;0.942	T	0.75698	-0.3227	10	0.06891	T	0.86	-19.1732	17.8804	0.88839	0.0:1.0:0.0:0.0	.	420;420;420	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	Y	420	ENSP00000340884:H420Y;ENSP00000330393:H420Y;ENSP00000360099:H420Y;ENSP00000360098:H420Y;ENSP00000360097:H420Y	ENSP00000340884:H420Y	H	+	1	0	LEPR	65839926	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.902000	0.56310	2.449000	0.82847	0.467000	0.42956	CAT		0.353	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1		NM_002303	
LPCAT3	10162	hgsc.bcm.edu;ucsc.edu	37	12	7090193	7090193	+	Missense_Mutation	SNP	A	A	C	rs1984564	byFrequency	TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr12:7090193A>C	ENST00000261407.4	-	6	735	c.650T>G	c.(649-651)aTt>aGt	p.I217S	U47924.30_ENST00000606112.1_lincRNA|LPCAT3_ENST00000535021.1_5'UTR	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	217			I -> T (in dbSNP:rs1984564).		glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						TGGTATGTCAATCAGCTCTCC	0.478																																																	0													158.0	154.0	156.0					12																	7090193		2203	4300	6503	SO:0001583	missense	10162			U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"""O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5"""	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.650T>G	12.37:g.7090193A>C	ENSP00000261407:p.Ile217Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	37	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.437683	0.25900	.	.	ENSG00000111684	ENST00000261407	T	0.71461	-0.57	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000001	T	0.56934	0.2019	N	0.19112	0.55	0.43214	P	0.0049200000000000355	B	0.02656	0.0	B	0.01281	0.0	T	0.58255	-0.7668	9	0.24483	T	0.36	-16.3892	15.2962	0.73910	0.0668:0.0:0.9332:0.0	.	217	Q6P1A2	MBOA5_HUMAN	S	217	ENSP00000261407:I217S	ENSP00000261407:I217S	I	-	2	0	LPCAT3	6960454	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.949000	0.63596	1.508000	0.48769	-0.119000	0.15052	ATT		0.478	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1		NM_005768	
LRRK1	79705	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	101597210	101597210	+	Silent	SNP	A	A	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr15:101597210A>T	ENST00000388948.3	+	28	4841	c.4482A>T	c.(4480-4482)cgA>cgT	p.R1494R	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Silent_p.R1491R	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.R1506R(1)|p.R1494R(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGTTCCGGCGACTGCAGGCGC	0.637																																																	2	Substitution - coding silent(2)	kidney(2)											65.0	75.0	72.0					15																	101597210		2003	4170	6173	SO:0001819	synonymous_variant	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4482A>T	15.37:g.101597210A>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000388948.3	37	CCDS42086.1																																																																																				0.637	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2		NM_024652	
MAPRE3	22924	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27245101	27245101	+	Silent	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr2:27245101G>A	ENST00000233121.2	+	2	213	c.15G>A	c.(13-15)gtG>gtA	p.V5V	MAPRE3_ENST00000405074.3_Silent_p.V5V|MAPRE3_ENST00000402218.1_Silent_p.V5V|MAPRE3_ENST00000491354.1_3'UTR			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	5					mitotic nuclear division (GO:0007067)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule plus-end binding (GO:1903033)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)	p.V5V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGTCAATGTGTACTCCACAT	0.502																																																	1	Substitution - coding silent(1)	kidney(1)											189.0	177.0	181.0					2																	27245101		2203	4300	6503	SO:0001819	synonymous_variant	22924			Y11174	CCDS1731.1	2p23.3-p23.1	2008-06-04			ENSG00000084764	ENSG00000084764			6892	protein-coding gene	gene with protein product		605788				9233623	Standard	NM_012326		Approved	RP3, EB3	uc002rhw.3	Q9UPY8	OTTHUMG00000097067	ENST00000233121.2:c.15G>A	2.37:g.27245101G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7WPK5|O00265|Q6FHB0|Q6FI15|Q9BZP7|Q9BZP8	Silent	SNP	ENST00000233121.2	37	CCDS1731.1																																																																																				0.502	MAPRE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214183.1		NM_012326	
MARS2	92935	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	198571443	198571443	+	Silent	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr2:198571443G>A	ENST00000282276.6	+	1	1357	c.1314G>A	c.(1312-1314)ccG>ccA	p.P438P	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	438					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)	p.P438P(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TGGTGGGGCCGTCAGTTCGTG	0.517																																																	1	Substitution - coding silent(1)	kidney(1)											87.0	88.0	88.0					2																	198571443		2203	4300	6503	SO:0001819	synonymous_variant	92935			BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	25133	protein-coding gene	gene with protein product	"""methionine tRNA ligase 2, mitochondrial"""	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.1314G>A	2.37:g.198571443G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A0AVC3|Q76E79|Q8IW62|Q8N7N4	Silent	SNP	ENST00000282276.6	37	CCDS33358.1																																																																																				0.517	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1		NM_138395	
MBOAT1	154141	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	20144501	20144501	+	Silent	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr6:20144501G>A	ENST00000324607.7	-	4	533	c.369C>T	c.(367-369)atC>atT	p.I123I	MBOAT1_ENST00000536798.1_Silent_p.I123I|MBOAT1_ENST00000541730.1_5'UTR	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	123					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)	p.I123I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			ATATTCGGCTGATGTGGCATA	0.358																																																	1	Substitution - coding silent(1)	kidney(1)											141.0	141.0	141.0					6																	20144501		2203	4300	6503	SO:0001819	synonymous_variant	154141			AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 1"""	611732	"""O-acyltransferase (membrane bound) domain containing 1"""	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.369C>T	6.37:g.20144501G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Silent	SNP	ENST00000324607.7	37	CCDS34346.1																																																																																				0.358	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1			
MFHAS1	9258	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	8748228	8748228	+	Silent	SNP	G	G	T	rs370580365		TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr8:8748228G>T	ENST00000276282.6	-	1	2927	c.2341C>A	c.(2341-2343)Cgg>Agg	p.R781R		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	781								p.R781R(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TGGGTGGCCCGGAGCAGTTCC	0.627																																					Melanoma(103;1201 2045 17515 28966)												1	Substitution - coding silent(1)	kidney(1)											49.0	49.0	49.0					8																	8748228		2203	4300	6503	SO:0001819	synonymous_variant	9258			AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.2341C>A	8.37:g.8748228G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q96CI0	Silent	SNP	ENST00000276282.6	37	CCDS34844.1																																																																																				0.627	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2		NM_004225	
MMEL1	79258	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	2541226	2541226	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr1:2541226C>T	ENST00000378412.3	-	5	498	c.337G>A	c.(337-339)Gac>Aac	p.D113N	MMEL1_ENST00000288709.6_Missense_Mutation_p.D104N|MMEL1_ENST00000502556.1_Missense_Mutation_p.D113N			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	113						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D104N(1)		cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TAGAAGTCGTCACACGGTTCC	0.602																																																	1	Substitution - Missense(1)	kidney(1)											103.0	80.0	88.0					1																	2541226		2203	4300	6503	SO:0001583	missense	79258			AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.337G>A	1.37:g.2541226C>T	ENSP00000367668:p.Asp113Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	c	4.214	0.038563	0.08148	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.84660	-1.88;-1.88;-1.88	5.29	-1.66	0.08265	Peptidase M13 (1);	0.959855	0.08812	N	0.890103	T	0.80281	0.4594	L	0.59436	1.845	0.09310	N	1	B	0.12630	0.006	B	0.21151	0.033	T	0.65738	-0.6095	10	0.39692	T	0.17	-14.3225	7.6466	0.28323	0.0:0.3692:0.1689:0.4619	.	113	Q495T6	MMEL1_HUMAN	N	113;104;113;113	ENSP00000288709:D104N;ENSP00000367668:D113N;ENSP00000422492:D113N	ENSP00000288709:D104N	D	-	1	0	MMEL1	2531086	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	-0.315000	0.08081	-0.231000	0.09825	-2.110000	0.00354	GAC		0.602	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2		NM_033467	
MPST	4357	broad.mit.edu	37	22	37420445	37420445	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr22:37420445delC	ENST00000397225.2	+	2	1104	c.189delC	c.(187-189)gacfs	p.D63fs	MPST_ENST00000404802.3_Frame_Shift_Del_p.D63fs|MPST_ENST00000397129.1_Frame_Shift_Del_p.D83fs|MPST_ENST00000401419.3_Frame_Shift_Del_p.D63fs|MPST_ENST00000341116.3_Frame_Shift_Del_p.D63fs|MPST_ENST00000404393.1_Frame_Shift_Del_p.D63fs|MPST_ENST00000429360.2_Frame_Shift_Del_p.D63fs			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	63	Rhodanese 1. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cyanate catabolic process (GO:0009440)|hydrogen sulfide biosynthetic process (GO:0070814)|response to toxic substance (GO:0009636)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|neuron projection (GO:0043005)|synapse (GO:0045202)	3-mercaptopyruvate sulfurtransferase activity (GO:0016784)|thiosulfate sulfurtransferase activity (GO:0004792)			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						TCGACATCGACCAGTGCAGCG	0.716																																																	0													12.0	10.0	11.0					22																	37420445		2151	4203	6354	SO:0001589	frameshift_variant	4357			X59434	CCDS13939.1	22q13.1	2010-04-27			ENSG00000128309	ENSG00000128309	2.8.1.2		7223	protein-coding gene	gene with protein product	"""human liver rhodanese"""	602496				1953758	Standard	NM_021126		Approved	MST, TST2	uc011amu.3	P25325	OTTHUMG00000150543	ENST00000397225.2:c.189delC	22.37:g.37420445delC	ENSP00000380402:p.Asp63fs	Somatic		WXS	Illumina GAIIx	Phase_I	A8MZ34|B3KP52|J3KPV7|O75750|Q6FHN9	Frame_Shift_Del	DEL	ENST00000397225.2	37	CCDS13939.1																																																																																				0.716	MPST-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318832.1		NM_001013440	
MPZL1	9019	broad.mit.edu;hgsc.bcm.edu	37	1	167734877	167734877	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr1:167734877A>C	ENST00000359523.2	+	2	351	c.149A>C	c.(148-150)aAt>aCt	p.N50T	MPZL1_ENST00000474859.1_Missense_Mutation_p.N50T|MPZL1_ENST00000392121.3_Missense_Mutation_p.N50T	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	50	Ig-like V-type.				cell-cell signaling (GO:0007267)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	structural molecule activity (GO:0005198)	p.N50T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					TTCGTGGCAAATGGTACACAA	0.488																																																	1	Substitution - Missense(1)	kidney(1)											87.0	80.0	82.0					1																	167734877		2203	4300	6503	SO:0001583	missense	9019			AF087020	CCDS1264.1, CCDS44273.1, CCDS53425.1	1q24.2	2013-01-11			ENSG00000197965	ENSG00000197965		"""Immunoglobulin superfamily / V-set domain containing"""	7226	protein-coding gene	gene with protein product		604376				9792637	Standard	NM_003953		Approved	PZR, FLJ21047	uc001geo.3	O95297	OTTHUMG00000034571	ENST00000359523.2:c.149A>C	1.37:g.167734877A>C	ENSP00000352513:p.Asn50Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B2REB9|B2REC0|Q5R332|Q8IX11|Q9BWZ3|Q9NYK4|Q9UL20	Missense_Mutation	SNP	ENST00000359523.2	37	CCDS1264.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.560698	0.65538	.	.	ENSG00000197965	ENST00000359523;ENST00000392121;ENST00000474859;ENST00000367853	T;D;T;T	0.94280	-0.06;-3.39;-0.06;-0.06	4.79	4.79	0.61399	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94886	0.8347	M	0.70275	2.135	0.49687	D	0.999819	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.93433	0.6787	9	0.24483	T	0.36	.	15.0422	0.71799	1.0:0.0:0.0:0.0	.	50;50;50	B2REC0;O95297-3;O95297	.;.;MPZL1_HUMAN	T	50;50;50;24	ENSP00000352513:N50T;ENSP00000375968:N50T;ENSP00000420455:N50T;ENSP00000356827:N24T	ENSP00000352513:N50T	N	+	2	0	MPZL1	166001501	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	4.795000	0.62489	2.113000	0.64589	0.533000	0.62120	AAT		0.488	MPZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083655.2		NM_024569	
MS4A12	54860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	60265040	60265040	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr11:60265040C>A	ENST00000016913.4	+	2	306	c.249C>A	c.(247-249)aaC>aaA	p.N83K	MS4A12_ENST00000525951.1_3'UTR|MS4A12_ENST00000537076.1_Missense_Mutation_p.N83K	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	83						integral component of membrane (GO:0016021)		p.N83K(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						CAGTAATGAACTTTAAAGAAG	0.388																																																	1	Substitution - Missense(1)	kidney(1)											49.0	49.0	49.0					11																	60265040		2203	4300	6503	SO:0001583	missense	54860			AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.249C>A	11.37:g.60265040C>A	ENSP00000016913:p.Asn83Lys	Somatic		WXS	Illumina HiSeq	Phase_I	F5GX98|Q8N6L4	Missense_Mutation	SNP	ENST00000016913.4	37	CCDS7988.1	.	.	.	.	.	.	.	.	.	.	C	0.107	-1.143453	0.01728	.	.	ENSG00000071203	ENST00000537076;ENST00000526784;ENST00000016913;ENST00000530007	T;T;T;T	0.54675	1.49;0.56;3.53;0.91	4.57	-2.42	0.06542	.	.	.	.	.	T	0.31513	0.0799	L	0.29908	0.895	0.09310	N	1	B;B	0.20550	0.046;0.027	B;B	0.24974	0.057;0.014	T	0.23119	-1.0197	9	0.24483	T	0.36	.	1.068	0.01615	0.1417:0.2464:0.3161:0.2958	.	83;83	E9PNI3;Q9NXJ0	.;M4A12_HUMAN	K	83	ENSP00000440424:N83K;ENSP00000431959:N83K;ENSP00000016913:N83K;ENSP00000434783:N83K	ENSP00000016913:N83K	N	+	3	2	MS4A12	60021616	0.000000	0.05858	0.000000	0.03702	0.165000	0.22458	-2.097000	0.01348	-0.605000	0.05753	0.462000	0.41574	AAC		0.388	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1			
MYL7	58498	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	44179950	44179950	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr7:44179950G>C	ENST00000223364.3	-	4	296	c.270C>G	c.(268-270)ttC>ttG	p.F90L	MYL7_ENST00000458240.1_Missense_Mutation_p.F63L|MYL7_ENST00000434895.1_5'UTR	NM_021223.2	NP_067046.1	Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	90						A band (GO:0031672)|dendritic spine (GO:0043197)|myosin complex (GO:0016459)	calcium ion binding (GO:0005509)	p.F90L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						AGAGCGTGAGGAAGACGGTGA	0.637																																																	1	Substitution - Missense(1)	kidney(1)											141.0	118.0	126.0					7																	44179950		2203	4300	6503	SO:0001583	missense	58498			M94547	CCDS5478.1	7p21-p11.2	2013-01-10	2006-09-29		ENSG00000106631	ENSG00000106631		"""Myosins / Light chain"", ""EF-hand domain containing"""	21719	protein-coding gene	gene with protein product		613993	"""myosin, light polypeptide 7, regulatory"""			8207020	Standard	NM_021223		Approved	MYLC2A, MYL2A	uc003tkg.3	Q01449	OTTHUMG00000023125	ENST00000223364.3:c.270C>G	7.37:g.44179950G>C	ENSP00000223364:p.Phe90Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B2R4L3	Missense_Mutation	SNP	ENST00000223364.3	37	CCDS5478.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.61|19.61	3.859069|3.859069	0.71834|0.71834	.|.	.|.	ENSG00000106631|ENSG00000106631	ENST00000446581;ENST00000223364;ENST00000458240;ENST00000457314;ENST00000447951|ENST00000431007	T;D;D;D;T|.	0.88896|.	1.67;-2.44;-2.44;-2.44;1.67|.	4.56|4.56	3.44|3.44	0.39384|0.39384	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80839|0.80839	0.4700|0.4700	M|M	0.92122|0.92122	3.275|3.275	0.58432|0.58432	D|D	0.999997|0.999997	D|.	0.56521|.	0.976|.	P|.	0.61132|.	0.884|.	D|D	0.85321|0.85321	0.1084|0.1084	10|5	0.62326|.	D|.	0.03|.	.|.	12.4189|12.4189	0.55510|0.55510	0.104:0.0:0.896:0.0|0.104:0.0:0.896:0.0	.|.	90|.	Q01449|.	MLRA_HUMAN|.	L|A	17;90;63;112;119|103	ENSP00000416010:F17L;ENSP00000223364:F90L;ENSP00000403360:F63L;ENSP00000389202:F112L;ENSP00000403988:F119L|.	ENSP00000223364:F90L|.	F|P	-|-	3|1	2|0	MYL7|MYL7	44146475|44146475	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.756000|1.756000	0.38390|0.38390	2.084000|2.084000	0.62774|0.62774	0.549000|0.549000	0.68633|0.68633	TTC|CCT		0.637	MYL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059446.4		NM_021223	
NLK	51701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	26449740	26449740	+	Silent	SNP	T	T	C			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr17:26449740T>C	ENST00000407008.3	+	2	1288	c.570T>C	c.(568-570)tgT>tgC	p.C190C		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	190	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Required for interaction with TAB2. {ECO:0000250}.|Sufficient for interaction with DAPK3.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.C190C(2)|p.C178C(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGATGTTGTGTTTTTTTAAGC	0.388																																																	4	Substitution - coding silent(4)	large_intestine(2)|kidney(2)											143.0	142.0	142.0					17																	26449740		2203	4300	6503	SO:0001819	synonymous_variant	51701			AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"""nemo like kinase"""			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.570T>C	17.37:g.26449740T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2RCX1|Q2PNI9|Q6P2A3	Silent	SNP	ENST00000407008.3	37	CCDS11224.2																																																																																				0.388	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255607.3		NM_016231	
NUMB	8650	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	73746101	73746101	+	Silent	SNP	A	A	G			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr14:73746101A>G	ENST00000355058.3	-	12	1406	c.1128T>C	c.(1126-1128)ctT>ctC	p.L376L	NUMB_ENST00000556772.1_Silent_p.L232L|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000557597.1_Silent_p.L365L|NUMB_ENST00000555238.1_Silent_p.L376L|NUMB_ENST00000454166.4_Intron|NUMB_ENST00000359560.3_Silent_p.L365L|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000535282.1_Silent_p.L365L|NUMB_ENST00000555738.2_Intron|NUMB_ENST00000555394.1_Intron|NUMB_ENST00000554546.1_Intron|NUMB_ENST00000560335.1_Intron|NUMB_ENST00000356296.4_Intron|NUMB_ENST00000554521.2_Intron			P49757	NUMB_HUMAN	numb homolog (Drosophila)	376					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L376L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		CTGGCTTAGCAAGCACATGGA	0.527																																																	1	Substitution - coding silent(1)	kidney(1)											116.0	94.0	101.0					14																	73746101		2203	4300	6503	SO:0001819	synonymous_variant	8650			L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"""numb (Drosophila) homolog"", ""chromosome 14 open reading frame 41"""	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.1128T>C	14.37:g.73746101A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Silent	SNP	ENST00000355058.3	37	CCDS32116.1																																																																																				0.527	NUMB-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414416.1			
OR8G5	219865	hgsc.bcm.edu	37	11	124134972	124134973	+	Frame_Shift_Ins	INS	-	-	T	rs138744250		TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr11:124134972_124134973insT	ENST00000524943.2	+	1	250_251	c.250_251insT	c.(250-252)attfs	p.I84fs	OR8G1_ENST00000341493.2_RNA	NM_001005198.1	NP_001005198.1	Q8NG78	OR8G5_HUMAN	olfactory receptor, family 8, subfamily G, member 5	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0523)		GATCACACTGATTGGGCTCAGT	0.51																																					Ovarian(169;523 1969 8640 31295 51256)												0																																										SO:0001589	frameshift_variant	219865			BK004516	CCDS66256.1	11q24.1	2014-04-17		2004-03-10	ENSG00000255298	ENSG00000255298		"""GPCR / Class A : Olfactory receptors"""	19622	protein-coding gene	gene with protein product				OR8G5P, OR8G6			Standard	NM_001005198		Approved			Q8NG78	OTTHUMG00000186059	ENST00000524943.2:c.252dupT	11.37:g.124134974_124134974dupT	ENSP00000477014:p.Ile84fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RND3|Q6IEU6	Frame_Shift_Ins	INS	ENST00000524943.2	37																																																																																					0.510	OR8G5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387283.2		NM_001005198	
PAK1	5058	hgsc.bcm.edu	37	11	77103527	77103528	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr11:77103527_77103528insG	ENST00000356341.3	-	2	569_570	c.38_39insC	c.(37-39)ccafs	p.P13fs	PAK1_ENST00000530617.1_Frame_Shift_Ins_p.P13fs|PAK1_ENST00000528203.1_Intron|PAK1_ENST00000278568.4_Frame_Shift_Ins_p.P13fs	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	13					actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					TCGGAGGGGCTGGGGGTTTGTC	0.446																																																	0																																										SO:0001589	frameshift_variant	5058			U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.39dupC	11.37:g.77103532_77103532dupG	ENSP00000348696:p.Pro13fs	Somatic		WXS	Illumina HiSeq	Phase_I	O75561|Q13567|Q32M53|Q32M54|Q86W79	Frame_Shift_Ins	INS	ENST00000356341.3	37	CCDS8250.1																																																																																				0.446	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2		NM_002576	
PCLO	27445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	82583794	82583794	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr7:82583794G>A	ENST00000333891.9	-	5	6812	c.6475C>T	c.(6475-6477)Cat>Tat	p.H2159Y	PCLO_ENST00000423517.2_Missense_Mutation_p.H2159Y	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.H2159Y(2)|p.H2090Y(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGCGATTCATGGGCAATTATC	0.403																																																	3	Substitution - Missense(3)	kidney(3)											126.0	123.0	124.0					7																	82583794		1907	4127	6034	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6475C>T	7.37:g.82583794G>A	ENSP00000334319:p.His2159Tyr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	8.784	0.928958	0.18131	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16196	2.36;2.37	5.62	5.62	0.85841	.	.	.	.	.	T	0.31104	0.0786	L	0.51422	1.61	0.80722	D	1	D;D	0.58620	0.983;0.983	P;P	0.57009	0.811;0.811	T	0.00888	-1.1526	9	0.87932	D	0	.	14.5008	0.67719	0.0:0.0:0.8532:0.1468	.	2159;2159	Q9Y6V0-5;Q9Y6V0-6	.;.	Y	2090;2159;2159	ENSP00000334319:H2159Y;ENSP00000388393:H2159Y	ENSP00000334319:H2159Y	H	-	1	0	PCLO	82421730	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.082000	0.50128	2.637000	0.89404	0.650000	0.86243	CAT		0.403	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5		NM_014510	
PIGQ	9091	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	633428	633428	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr16:633428G>T	ENST00000026218.5	+	10	2165	c.2077G>T	c.(2077-2079)Ggc>Tgc	p.G693C	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	693					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)	p.G693C(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GCTCCCCAGTGGCTCTGCCCT	0.682																																																	1	Substitution - Missense(1)	kidney(1)											32.0	36.0	34.0					16																	633428		2201	4299	6500	SO:0001583	missense	9091			AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.2077G>T	16.37:g.633428G>T	ENSP00000026218:p.Gly693Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	G	8.942	0.966095	0.18659	.	.	ENSG00000007541	ENST00000026218	T	0.26518	1.73	2.35	-1.83	0.07833	.	.	.	.	.	T	0.18002	0.0432	N	0.08118	0	0.09310	N	1	D;P	0.65815	0.995;0.9	P;B	0.59012	0.85;0.129	T	0.10520	-1.0626	8	.	.	.	.	2.7502	0.05279	0.3055:0.0:0.4595:0.235	.	263;693	B3KRR7;Q9BRB3	.;PIGQ_HUMAN	C	693	ENSP00000026218:G693C	.	G	+	1	0	PIGQ	573429	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.250000	0.02885	-0.483000	0.06772	0.449000	0.29647	GGC		0.682	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2		NM_004204	
PIP4K2A	5305	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	22896899	22896899	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr10:22896899C>T	ENST00000376573.4	-	3	524	c.296G>A	c.(295-297)cGt>cAt	p.R99H	PIP4K2A_ENST00000545335.1_Missense_Mutation_p.R40H|PIP4K2A_ENST00000422321.1_5'UTR	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	99	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)	p.R99H(1)		endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CCGCAGGTTACGGAAGACCAT	0.438																																																	1	Substitution - Missense(1)	kidney(1)											97.0	89.0	92.0					10																	22896899		2203	4300	6503	SO:0001583	missense	5305			S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.296G>A	10.37:g.22896899C>T	ENSP00000365757:p.Arg99His	Somatic		WXS	Illumina HiSeq	Phase_I	B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Missense_Mutation	SNP	ENST00000376573.4	37	CCDS7141.1	.	.	.	.	.	.	.	.	.	.	C	33	5.223468	0.95139	.	.	ENSG00000150867	ENST00000376573;ENST00000545335;ENST00000422321;ENST00000376565;ENST00000432610	T;T	0.52057	0.68;1.28	5.57	4.67	0.58626	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.117966	0.64402	D	0.000014	T	0.69378	0.3104	M	0.91140	3.18	0.80722	D	1	D	0.63046	0.992	P	0.55508	0.777	T	0.78401	-0.2218	10	0.87932	D	0	-8.3884	14.3982	0.67025	0.0:0.9291:0.0:0.0709	.	99	P48426	PI42A_HUMAN	H	99;40;51;58;51	ENSP00000365757:R99H;ENSP00000442098:R40H	ENSP00000365749:R58H	R	-	2	0	PIP4K2A	22936905	1.000000	0.71417	0.981000	0.43875	0.989000	0.77384	7.776000	0.85560	1.368000	0.46115	0.655000	0.94253	CGT		0.438	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1		NM_005028	
PLS3	5358	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	114880823	114880823	+	Silent	SNP	G	G	C			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chrX:114880823G>C	ENST00000420625.2	+	13	1613	c.1479G>C	c.(1477-1479)ctG>ctC	p.L493L	PLS3_ENST00000537301.1_Silent_p.L480L|PLS3_ENST00000355899.3_Silent_p.L493L|PLS3_ENST00000539310.1_Silent_p.L448L|PLS3_ENST00000543070.1_Silent_p.L87L|PLS3_ENST00000289290.3_Silent_p.L457L	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	493	Actin-binding 2.|CH 3. {ECO:0000255|PROSITE- ProRule:PRU00044}.				bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.L493L(1)		NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						ACCAAACCCTGACTTTAGCTT	0.418																																					Colon(160;1047 1864 8490 12969 29601)												1	Substitution - coding silent(1)	kidney(1)											170.0	140.0	150.0					X																	114880823		2203	4300	6503	SO:0001819	synonymous_variant	5358			L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"""EF-hand domain containing"""	9091	protein-coding gene	gene with protein product		300131	"""plastin 3 (T isoform)"""			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.1479G>C	X.37:g.114880823G>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Silent	SNP	ENST00000420625.2	37	CCDS14568.1																																																																																				0.418	PLS3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057976.2			
PLXNA4	91584	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	131895713	131895713	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr7:131895713G>T	ENST00000359827.3	-	10	3249	c.2287C>A	c.(2287-2289)Cag>Aag	p.Q763K	PLXNA4_ENST00000321063.4_Missense_Mutation_p.Q763K			Q9HCM2	PLXA4_HUMAN	plexin A4	763					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.Q763K(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GAGGTGTTCTGGCACTGTACG	0.617																																																	2	Substitution - Missense(2)	kidney(2)											53.0	61.0	58.0					7																	131895713		2196	4300	6496	SO:0001583	missense	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2287C>A	7.37:g.131895713G>T	ENSP00000352882:p.Gln763Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	31	5.082720	0.94050	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.57752	0.38;0.38	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.75997	0.3926	M	0.90650	3.135	0.80722	D	1	D	0.63880	0.993	D	0.64506	0.926	T	0.74743	-0.3562	10	0.19147	T	0.46	.	19.4516	0.94871	0.0:0.0:1.0:0.0	.	763	Q9HCM2	PLXA4_HUMAN	K	763	ENSP00000323194:Q763K;ENSP00000352882:Q763K	ENSP00000323194:Q763K	Q	-	1	0	PLXNA4	131546253	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.890000	0.87313	2.592000	0.87571	0.563000	0.77884	CAG		0.617	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2		NM_181775	
PRG4	10216	broad.mit.edu	37	1	186276051	186276052	+	Missense_Mutation	DNP	CA	CA	TC	rs542620960|rs575484346	byFrequency	TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C|A	C|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr1:186276051_186276052CA>TC	ENST00000445192.2	+	7	1245_1246	c.1200_1201CA>TC	c.(1198-1203)acCAcc>acTCcc	p.T401P	PRG4_ENST00000367483.4_Missense_Mutation_p.T360P|PRG4_ENST00000367484.3_Missense_Mutation_p.T360P|PRG4_ENST00000367485.4_Missense_Mutation_p.T308P|PRG4_ENST00000367486.3_Missense_Mutation_p.T358P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	401	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T401P(4)|p.T400T(3)|p.T400>?(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCACCAAGGAGCC	0.644																																																	8	Substitution - Missense(4)|Substitution - coding silent(3)|Complex(1)	kidney(3)|lung(2)|endometrium(2)|prostate(1)																																								SO:0001583	missense	23572			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	Exception_encountered	1.37:g.186276051_186276052delinsTC	ENSP00000399679:p.Thr401Pro	Somatic		WXS	Illumina GAIIx	Phase_I	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent|Missense_Mutation	SNP	ENST00000445192.2	37	CCDS1369.1																																																																																				0.644	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1		NM_005807	
PRPF19	27339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	60658695	60658695	+	Silent	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr11:60658695G>A	ENST00000227524.4	-	16	1663	c.1458C>T	c.(1456-1458)caC>caT	p.H486H		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19									p.H486H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						TGAACTTGGCGTGATGCCCGA	0.542																																																	1	Substitution - coding silent(1)	kidney(1)											82.0	69.0	73.0					11																	60658695		2203	4299	6502	SO:0001819	synonymous_variant	27339			BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"""WD repeat domain containing"", ""U-box domain containing"""	17896	protein-coding gene	gene with protein product	"""nuclear matrix protein NMP200 related to splicing factor PRP19"", ""psoralen 4"""	608330	"""PRP19/PSO4 homolog (S. cerevisiae)"", ""PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"""	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.1458C>T	11.37:g.60658695G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000227524.4	37	CCDS7995.1																																																																																				0.542	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1		NM_014502	
SCAF8	22828	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	155154022	155154022	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr6:155154022G>T	ENST00000367178.3	+	20	3885	c.3309G>T	c.(3307-3309)gaG>gaT	p.E1103D	SCAF8_ENST00000367186.4_Missense_Mutation_p.E1169D|TIAM2_ENST00000461783.3_5'UTR|SCAF8_ENST00000417268.1_Missense_Mutation_p.E1103D	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	1103					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)	p.E1103D(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						ATGAGAGAGAGCATCGGGTTC	0.463																																																	1	Substitution - Missense(1)	kidney(1)											53.0	59.0	57.0					6																	155154022		2203	4300	6503	SO:0001583	missense	0			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.3309G>T	6.37:g.155154022G>T	ENSP00000356146:p.Glu1103Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535494	0.27475	.	.	ENSG00000213079;ENSG00000213079;ENSG00000213079;ENSG00000146426	ENST00000367178;ENST00000417268;ENST00000367186;ENST00000528928	T;T;T	0.40476	1.06;1.06;1.03	5.73	0.963	0.19649	.	0.476018	0.19835	U	0.104983	T	0.07413	0.0187	N	0.11560	0.145	0.80722	D	1	B;B;B	0.29188	0.236;0.236;0.034	B;B;B	0.20767	0.031;0.031;0.017	T	0.15636	-1.0430	10	0.27082	T	0.32	.	6.6811	0.23121	0.3878:0.1106:0.5016:0.0	.	1148;1169;1103	B7Z876;B7Z888;Q9UPN6	.;.;SCAF8_HUMAN	D	1103;1103;1169;64	ENSP00000356146:E1103D;ENSP00000413098:E1103D;ENSP00000356154:E1169D	ENSP00000356146:E1103D	E	+	3	2	TIAM2;SCAF8	155195714	0.978000	0.34361	0.979000	0.43373	0.882000	0.50991	0.308000	0.19314	0.104000	0.17725	-0.136000	0.14681	GAG		0.463	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1		NM_014892	
RPRD2	23248	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	150432593	150432593	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr1:150432593C>T	ENST00000369068.4	+	9	1215	c.1211C>T	c.(1210-1212)aCa>aTa	p.T404I	RPRD2_ENST00000539519.1_Missense_Mutation_p.T378I|RPRD2_ENST00000401000.4_Missense_Mutation_p.T378I|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	404						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.T404I(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCTGTACCTACAAAGCCAACA	0.438																																																	2	Substitution - Missense(2)	kidney(2)											98.0	97.0	97.0					1																	150432593		1908	4130	6038	SO:0001583	missense	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.1211C>T	1.37:g.150432593C>T	ENSP00000358064:p.Thr404Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392024	0.42410	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.46451	0.88;0.87;0.89	5.01	5.01	0.66863	.	0.465327	0.26000	N	0.026960	T	0.21427	0.0516	L	0.54323	1.7	0.27010	N	0.964719	B;B;B	0.32829	0.063;0.316;0.386	B;B;B	0.24269	0.023;0.027;0.052	T	0.07731	-1.0757	10	0.49607	T	0.09	-2.4196	13.2065	0.59800	0.0:0.9207:0.0:0.0793	.	378;404;378	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	I	378;378;404	ENSP00000383785:T378I;ENSP00000445482:T378I;ENSP00000358064:T404I	ENSP00000358064:T404I	T	+	2	0	RPRD2	148699217	0.004000	0.15560	0.981000	0.43875	0.815000	0.46073	1.083000	0.30815	2.765000	0.95021	0.555000	0.69702	ACA		0.438	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1		NM_015203	
RTN4RL1	146760	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	1840903	1840903	+	Silent	SNP	G	G	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr17:1840903G>T	ENST00000331238.6	-	2	692	c.213C>A	c.(211-213)ccC>ccA	p.P71P		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1									p.P71P(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						TGAAGTGGCCGGGCTGGAGGA	0.637																																					GBM(68;949 1139 14865 32798 38342)												1	Substitution - coding silent(1)	kidney(1)											62.0	77.0	72.0					17																	1840903		2187	4271	6458	SO:0001819	synonymous_variant	146760			AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"""nogo-66 receptor homolog 2"""	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.213C>A	17.37:g.1840903G>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000331238.6	37	CCDS45569.1																																																																																				0.637	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2		NM_178568	
RYR1	6261	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39026031	39026031	+	Splice_Site	SNP	A	A	G			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr19:39026031A>G	ENST00000359596.3	+	81	11515	c.11515A>G	c.(11515-11517)Agc>Ggc	p.S3839G	RYR1_ENST00000355481.4_Splice_Site_p.S3834G|AC067969.2_ENST00000595853.1_RNA|RYR1_ENST00000360985.3_Splice_Site_p.S3839G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3839					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.S3839G(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCAAACATGCAGGTAGGTTCG	0.502																																																	1	Substitution - Missense(1)	kidney(1)											125.0	107.0	113.0					19																	39026031		2203	4300	6503	SO:0001630	splice_region_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.11516+1A>G	19.37:g.39026031A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	13.10	2.137180	0.37728	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.90261	-2.64;-2.64;-2.64	4.45	4.45	0.53987	.	0.122560	0.51477	U	0.000087	D	0.94029	0.8087	M	0.83012	2.62	0.51012	D	0.999904	D;P;P	0.56287	0.975;0.865;0.787	P;P;B	0.57679	0.825;0.608;0.404	D	0.94748	0.7925	10	0.87932	D	0	.	12.8309	0.57746	1.0:0.0:0.0:0.0	.	3839;3834;3839	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	G	3839;3834;3839	ENSP00000352608:S3839G;ENSP00000347667:S3834G;ENSP00000354254:S3839G	ENSP00000347667:S3834G	S	+	1	0	RYR1	43717871	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	8.841000	0.92131	1.878000	0.54408	0.454000	0.30748	AGC		0.502	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			Missense_Mutation
SGK223	157285	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	8185726	8185726	+	Missense_Mutation	SNP	C	C	T	rs199973377		TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr8:8185726C>T	ENST00000520004.1	-	5	2830	c.2566G>A	c.(2566-2568)Gac>Aac	p.D856N	SGK223_ENST00000330777.4_Missense_Mutation_p.D856N			Q86YV5	SG223_HUMAN		858							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.D858N(1)|p.D856N(1)									TGAGATTCGTCGTGGACGTTG	0.567																																					GBM(34;731 755 10259 33573 33867)												2	Substitution - Missense(2)	kidney(2)											181.0	194.0	190.0					8																	8185726		1995	4157	6152	SO:0001583	missense	157285																														ENST00000520004.1:c.2566G>A	8.37:g.8185726C>T	ENSP00000428054:p.Asp856Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407119	0.42715	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.57595	0.39;0.39	4.97	4.97	0.65823	.	0.641019	0.14485	N	0.316736	T	0.37705	0.1013	L	0.39898	1.24	0.09310	N	1	P	0.45078	0.85	B	0.30401	0.115	T	0.38415	-0.9662	10	0.44086	T	0.13	.	11.2471	0.49004	0.0:0.9164:0.0:0.0836	.	856	Q86YV5	SG223_HUMAN	N	856	ENSP00000330930:D856N;ENSP00000428054:D856N	ENSP00000330930:D856N	D	-	1	0	AC068353.1	8223136	0.994000	0.37717	0.087000	0.20705	0.680000	0.39746	5.359000	0.66074	2.751000	0.94390	0.563000	0.77884	GAC		0.567	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			
SIM2	6493	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	38084845	38084845	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr21:38084845T>A	ENST00000290399.6	+	3	884	c.271T>A	c.(271-273)Ttt>Att	p.F91I	SIM2_ENST00000430056.3_Missense_Mutation_p.F91I	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	91	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.F91I(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TTTGGATGGATTTGTTTTTGT	0.378																																																	1	Substitution - Missense(1)	kidney(1)											200.0	177.0	185.0					21																	38084845		2203	4300	6503	SO:0001583	missense	6493				CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.271T>A	21.37:g.38084845T>A	ENSP00000290399:p.Phe91Ile	Somatic		WXS	Illumina HiSeq	Phase_I	O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	ENST00000290399.6	37	CCDS13646.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.4|28.4	4.920522|4.920522	0.92249|0.92249	.|.	.|.	ENSG00000159263|ENSG00000159263	ENST00000290399;ENST00000430056|ENST00000431229	T;T|.	0.20881|.	2.04;2.04|.	5.42|5.42	5.42|5.42	0.78866|0.78866	PAS (2);PAS fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87075|0.87075	0.6087|0.6087	H|H	0.95780|0.95780	3.72|3.72	0.51233|0.51233	D|D	0.999919|0.999919	D;D|.	0.71674|.	0.998;0.997|.	D;D|.	0.73380|.	0.98;0.966|.	D|D	0.91033|0.91033	0.4865|0.4865	10|5	0.87932|.	D|.	0|.	.|.	15.4962|15.4962	0.75653|0.75653	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	91;91|.	Q14190;Q14190-2|.	SIM2_HUMAN;.|.	I|N	91|28	ENSP00000290399:F91I;ENSP00000404176:F91I|.	ENSP00000290399:F91I|.	F|I	+|+	1|2	0|0	SIM2|SIM2	37006715|37006715	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.548000|7.548000	0.82154|0.82154	2.058000|2.058000	0.61347|0.61347	0.533000|0.533000	0.62120|0.62120	TTT|ATT		0.378	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1		NM_009586	
SLC25A44	9673	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	156169881	156169881	+	Silent	SNP	C	C	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr1:156169881C>A	ENST00000359511.4	+	2	415	c.243C>A	c.(241-243)acC>acA	p.T81T	SLC25A44_ENST00000423538.2_Silent_p.T81T|SLC25A44_ENST00000469537.1_3'UTR	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	81					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.T81T(1)		breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					TGGTCAATACCTTCACCCTCA	0.517																																																	1	Substitution - coding silent(1)	kidney(1)											117.0	108.0	111.0					1																	156169881		2203	4300	6503	SO:0001819	synonymous_variant	9673			AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"""Solute carriers"""	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.243C>A	1.37:g.156169881C>A		Somatic		WXS	Illumina HiSeq	Phase_I	O75034	Silent	SNP	ENST00000359511.4	37	CCDS1133.1																																																																																				0.517	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040856.1		NM_014655	
SLAMF7	57823	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	160718025	160718025	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr1:160718025G>A	ENST00000368043.3	+	2	134	c.97G>A	c.(97-99)Gtt>Att	p.V33I	SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000488819.1_3'UTR|SLAMF7_ENST00000359331.4_Missense_Mutation_p.V33I|SLAMF7_ENST00000441662.2_Missense_Mutation_p.V33I|SLAMF7_ENST00000444090.2_Missense_Mutation_p.V33I|SLAMF7_ENST00000368042.3_Intron|SLAMF7_ENST00000458104.2_Intron	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	33	Ig-like V-type.				cell adhesion (GO:0007155)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of natural killer cell activation (GO:0032814)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.V33I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGTCGGTTCCGTTGGTGGGGC	0.498																																																	1	Substitution - Missense(1)	kidney(1)											76.0	76.0	76.0					1																	160718025		2203	4300	6503	SO:0001583	missense	57823			AB027233	CCDS1209.1, CCDS60321.1, CCDS60322.1, CCDS60323.1, CCDS60324.1, CCDS60325.1, CCDS72956.1, CCDS72957.1	1q23.1-q24.1	2013-01-11			ENSG00000026751	ENSG00000026751		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	21394	protein-coding gene	gene with protein product		606625				11802771, 11220635	Standard	XM_005245386		Approved	CRACC, 19A, CS1, CD319	uc001fwq.3	Q9NQ25	OTTHUMG00000024008	ENST00000368043.3:c.97G>A	1.37:g.160718025G>A	ENSP00000357022:p.Val33Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A8K3U1|B4DPU4|B4DPY3|B4DWA3|Q8N6Y8|Q8ND32|Q9NY08|Q9NY23	Missense_Mutation	SNP	ENST00000368043.3	37	CCDS1209.1	.	.	.	.	.	.	.	.	.	.	G	2.324	-0.354990	0.05138	.	.	ENSG00000026751	ENST00000444090;ENST00000441662;ENST00000368043;ENST00000359331	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	4.07	-8.13	0.01073	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.966570	0.02047	N	0.049737	T	0.19846	0.0477	N	0.04508	-0.205	0.20307	N	0.999919	B;B;B;B	0.17268	0.002;0.002;0.021;0.004	B;B;B;B	0.12837	0.005;0.003;0.008;0.005	T	0.18461	-1.0336	10	0.42905	T	0.14	0.5977	11.227	0.48890	0.3167:0.159:0.5243:0.0	.	33;33;33;33	B4DPY3;B4DPU4;A8K3U1;Q9NQ25	.;.;.;SLAF7_HUMAN	I	33	ENSP00000416592:V33I;ENSP00000405605:V33I;ENSP00000357022:V33I;ENSP00000352281:V33I	ENSP00000352281:V33I	V	+	1	0	SLAMF7	158984649	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-4.323000	0.00253	-1.860000	0.01154	-2.881000	0.00097	GTT		0.498	SLAMF7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060464.1		NM_021181	
SLC35A5	55032	hgsc.bcm.edu;ucsc.edu	37	3	112299395	112299396	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr3:112299395_112299396insA	ENST00000492406.1	+	6	714_715	c.431_432insA	c.(430-435)aggcgtfs	p.R145fs	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	145					nucleotide-sugar transport (GO:0015780)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)|sugar:proton symporter activity (GO:0005351)			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						TTGAACAGGAGGCGTCTAAACT	0.406																																																	0																																										SO:0001589	frameshift_variant	55032			AK000737	CCDS2967.1	3q13.13	2013-05-22			ENSG00000138459	ENSG00000138459		"""Solute carriers"""	20792	protein-coding gene	gene with protein product							Standard	NM_017945		Approved	FLJ20730	uc003dze.4	Q9BS91	OTTHUMG00000159263	Exception_encountered	3.37:g.112299395_112299396insA	ENSP00000417654:p.Arg145fs	Somatic		WXS	Illumina HiSeq	Phase_I	D3DN66|Q69YY6|Q6ZMD6|Q9NWM9	Frame_Shift_Ins	INS	ENST00000492406.1	37	CCDS2967.1																																																																																				0.406	SLC35A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354184.1		NM_017945	
SLC39A1	27173	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	153932643	153932643	+	Silent	SNP	C	C	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr1:153932643C>T	ENST00000368623.3	-	3	1665	c.906G>A	c.(904-906)agG>agA	p.R302R	CRTC2_ENST00000368630.3_5'Flank|SLC39A1_ENST00000368621.1_Silent_p.R302R|CRTC2_ENST00000476883.1_5'Flank|SLC39A1_ENST00000356205.4_Silent_p.R302R|SLC39A1_ENST00000461071.1_5'Flank|SLC39A1_ENST00000310483.6_Silent_p.R302R|SLC39A1_ENST00000537590.1_Silent_p.R200R|CRTC2_ENST00000368633.1_5'Flank			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	302				R -> G (in Ref. 4; BAC11502). {ECO:0000305}.	cation transport (GO:0006812)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic cation transmembrane transporter activity (GO:0022890)|zinc ion transmembrane transporter activity (GO:0005385)	p.R302R(1)		kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		CCTTGAGGATCCTTTGCTCAG	0.557																																																	1	Substitution - coding silent(1)	kidney(1)											65.0	70.0	68.0					1																	153932643		2203	4300	6503	SO:0001819	synonymous_variant	27173			BC007886	CCDS1055.1, CCDS72920.1	1q21	2013-05-22		2002-02-15	ENSG00000143570	ENSG00000143570		"""Solute carriers"""	12876	protein-coding gene	gene with protein product		604740	"""zinc/iron regulated transporter-like"""	ZIRTL		10610721, 10681536	Standard	NM_014437		Approved	ZIP1	uc031ppi.1	Q9NY26	OTTHUMG00000037158	ENST00000368623.3:c.906G>A	1.37:g.153932643C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DDY7|Q5T4K1|Q8N2H7|Q9BTV0|Q9UBI7|Q9Y2Z7|Q9Y380	Silent	SNP	ENST00000368623.3	37	CCDS1055.1																																																																																				0.557	SLC39A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090284.1		NM_014437	
SLC39A3	29985	hgsc.bcm.edu;ucsc.edu	37	19	2737131	2737131	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr19:2737131delT	ENST00000269740.4	-	2	454	c.125delA	c.(124-126)aagfs	p.K42fs	SLC39A3_ENST00000590875.1_5'Flank|AC006538.4_ENST00000586572.1_Frame_Shift_Del_p.K42fs|SLC39A3_ENST00000455372.2_Frame_Shift_Del_p.K42fs|SLC39A3_ENST00000545664.1_Frame_Shift_Del_p.K42fs	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	42					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGAGGATCTTTTTCGAGCG	0.562																																																	0													116.0	100.0	106.0					19																	2737131		2203	4300	6503	SO:0001589	frameshift_variant	29985			AF052125	CCDS12093.1, CCDS45909.1	19p13.3	2013-05-22			ENSG00000141873	ENSG00000141873		"""Solute carriers"""	17128	protein-coding gene	gene with protein product		612168				10681536	Standard	NM_144564		Approved	ZIP3	uc002lwg.3	Q9BRY0		ENST00000269740.4:c.125delA	19.37:g.2737131delT	ENSP00000269740:p.Lys42fs	Somatic		WXS	Illumina HiSeq	Phase_I	B3KMJ3|Q8WUG1	Frame_Shift_Del	DEL	ENST00000269740.4	37	CCDS12093.1																																																																																				0.562	SLC39A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451354.2			
SMARCA4	6597	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	11129632	11129632	+	Splice_Site	SNP	G	G	A	rs113895708		TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr19:11129632G>A	ENST00000429416.3	+	18	2719		c.e18-1		SMARCA4_ENST00000541122.2_Splice_Site|SMARCA4_ENST00000450717.3_Splice_Site|SMARCA4_ENST00000444061.3_Splice_Site|SMARCA4_ENST00000344626.4_Splice_Site|SMARCA4_ENST00000358026.2_Splice_Site|SMARCA4_ENST00000413806.3_Splice_Site|SMARCA4_ENST00000590574.1_Splice_Site|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000589677.1_Splice_Site	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4						aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(3)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGTTCCATCAGAACGCTGTCC	0.557			"""F, N, Mis"""		NSCLC																																			Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	3	Unknown(3)	kidney(2)|lung(1)											182.0	155.0	164.0					19																	11129632		2203	4300	6503	SO:0001630	splice_region_variant	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2439-1G>A	19.37:g.11129632G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Splice_Site	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336840	0.60963	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1078	0.86668	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMARCA4	10990632	1.000000	0.71417	0.443000	0.26883	0.041000	0.13682	9.625000	0.98406	2.571000	0.86741	0.591000	0.81541	.		0.557	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2		NM_003072	Intron
SMEK2	57223	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	55825590	55825590	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr2:55825590T>A	ENST00000345102.5	-	4	1184	c.883A>T	c.(883-885)Att>Ttt	p.I295F	SMEK2_ENST00000272313.5_Missense_Mutation_p.I295F|SMEK2_ENST00000407823.3_Missense_Mutation_p.I295F	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	295					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)		p.I295F(2)		kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTGAAGAAAATAAAAGACGTA	0.333																																																	2	Substitution - Missense(2)	kidney(2)											47.0	49.0	48.0					2																	55825590		2203	4299	6502	SO:0001583	missense	57223			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.883A>T	2.37:g.55825590T>A	ENSP00000339769:p.Ile295Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	37	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	T	17.91	3.503380	0.64298	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.59224	0.28;0.28;0.28	5.7	5.7	0.88788	Domain of unknown function DUF625 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	H	0.94423	3.535	0.80722	D	1	B;B;B;B	0.28971	0.021;0.118;0.024;0.229	B;B;B;B	0.37346	0.036;0.247;0.036;0.169	T	0.78160	-0.2312	10	0.87932	D	0	-14.5999	15.9645	0.79956	0.0:0.0:0.0:1.0	.	295;295;295;295	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3;B4DKA9	.;P4R3B_HUMAN;.;.	F	295	ENSP00000272313:I295F;ENSP00000385912:I295F;ENSP00000339769:I295F	ENSP00000272313:I295F	I	-	1	0	SMEK2	55679094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.174000	0.68829	0.533000	0.62120	ATT		0.333	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1		NM_020463	
SMARCAL1	50485	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	217280065	217280065	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr2:217280065G>C	ENST00000357276.4	+	3	968	c.638G>C	c.(637-639)aGt>aCt	p.S213T	AC098820.2_ENST00000457694.1_RNA|SMARCAL1_ENST00000358207.5_Missense_Mutation_p.S213T	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	213					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)	p.S213T(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AGCTCAGAGAGTGTAACGCCC	0.522									Schimke Immuno-Osseous Dysplasia																																								1	Substitution - Missense(1)	kidney(1)											90.0	88.0	89.0					2																	217280065		2203	4300	6503	SO:0001583	missense	50485	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.638G>C	2.37:g.217280065G>C	ENSP00000349823:p.Ser213Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	G	3.248	-0.153959	0.06585	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000427645;ENST00000392128	D;D;T;D	0.86030	-2.03;-2.03;1.49;-2.06	4.88	1.93	0.25924	.	0.656147	0.14107	N	0.340961	T	0.72946	0.3524	L	0.29908	0.895	0.09310	N	1	B	0.22276	0.067	B	0.21360	0.034	T	0.57499	-0.7801	10	0.26408	T	0.33	-7.0E-4	5.727	0.18018	0.1733:0.3016:0.5251:0.0	.	213	Q9NZC9	SMAL1_HUMAN	T	213;213;112;77	ENSP00000349823:S213T;ENSP00000350940:S213T;ENSP00000392997:S112T;ENSP00000375974:S77T	ENSP00000349823:S213T	S	+	2	0	SMARCAL1	216988310	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-0.829000	0.04415	0.640000	0.30582	0.644000	0.83932	AGT		0.522	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			
SPZ1	84654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	79616823	79616823	+	Silent	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr5:79616823G>A	ENST00000296739.4	+	1	1034	c.789G>A	c.(787-789)gaG>gaA	p.E263E		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	263					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E263E(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AACATACTGAGCTCAGTAAAC	0.358																																																	1	Substitution - coding silent(1)	kidney(1)											73.0	69.0	70.0					5																	79616823		1849	4098	5947	SO:0001819	synonymous_variant	84654				CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.789G>A	5.37:g.79616823G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RA21|Q8N4P1|Q8N7E9	Silent	SNP	ENST00000296739.4	37	CCDS43336.1																																																																																				0.358	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1		NM_032567	
STYK1	55359	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	10772767	10772767	+	Silent	SNP	G	G	C			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr12:10772767G>C	ENST00000075503.3	-	11	1765	c.1245C>G	c.(1243-1245)ctC>ctG	p.L415L		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	415						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.L415L(2)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						AGTTGTAGAAGAGGCTCTCCA	0.453										HNSCC(73;0.22)																																							2	Substitution - coding silent(2)	kidney(1)|skin(1)											150.0	146.0	147.0					12																	10772767		2203	4300	6503	SO:0001819	synonymous_variant	55359			AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.1245C>G	12.37:g.10772767G>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Silent	SNP	ENST00000075503.3	37	CCDS8629.1																																																																																				0.453	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1		NM_018423	
TNRC6C	57690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	76046332	76046332	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr17:76046332G>A	ENST00000588061.1	+	5	1916	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	TNRC6C_ENST00000544502.1_Missense_Mutation_p.E397K|TNRC6C_ENST00000301624.4_Missense_Mutation_p.E397K|TNRC6C_ENST00000588847.1_Missense_Mutation_p.E397K|TNRC6C_ENST00000335749.4_Missense_Mutation_p.E397K|TNRC6C_ENST00000541771.1_Missense_Mutation_p.E397K			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	397	Gly-rich.|Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.E397K(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TACAGCAAGTGAAGGAAGTAG	0.532																																																	2	Substitution - Missense(2)	kidney(2)											68.0	69.0	68.0					17																	76046332		1981	4179	6160	SO:0001583	missense	57690			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1189G>A	17.37:g.76046332G>A	ENSP00000468647:p.Glu397Lys	Somatic		WXS	Illumina HiSeq	Phase_I	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192819	0.58017	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.3	5.3	0.74995	.	0.250251	0.34156	N	0.004214	T	0.28699	0.0711	M	0.65498	2.005	0.58432	D	0.999999	P;P;P	0.44429	0.763;0.835;0.682	B;P;B	0.48334	0.163;0.574;0.141	T	0.02371	-1.1169	10	0.13108	T	0.6	-4.9224	19.1532	0.93499	0.0:0.0:1.0:0.0	.	397;397;397	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	K	397	ENSP00000336783:E397K;ENSP00000301624:E397K;ENSP00000440310:E397K;ENSP00000442421:E397K	ENSP00000301624:E397K	E	+	1	0	TNRC6C	73557927	1.000000	0.71417	0.806000	0.32338	0.972000	0.66771	9.181000	0.94874	2.769000	0.95229	0.655000	0.94253	GAA		0.532	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1		NM_018996	
TP63	8626	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	189604291	189604291	+	Silent	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr3:189604291G>A	ENST00000264731.3	+	11	1547	c.1458G>A	c.(1456-1458)caG>caA	p.Q486Q	TP63_ENST00000392461.3_Silent_p.Q392Q|TP63_ENST00000354600.5_Silent_p.Q392Q|TP63_ENST00000382063.4_Silent_p.Q401Q|TP63_ENST00000392463.2_Silent_p.Q392Q|TP63_ENST00000392460.3_Silent_p.Q486Q|TP63_ENST00000320472.5_Silent_p.Q486Q|TP63_ENST00000440651.2_Silent_p.Q482Q|TP63_ENST00000449992.1_Silent_p.Q307Q|TP63_ENST00000456148.1_Silent_p.Q388Q	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	486					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|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)|WW domain binding (GO:0050699)	p.Q486Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACCCTCAGCAGCGCAACGCCC	0.498										HNSCC(45;0.13)																																							1	Substitution - coding silent(1)	kidney(1)											138.0	112.0	121.0					3																	189604291		2203	4300	6503	SO:0001819	synonymous_variant	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1458G>A	3.37:g.189604291G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Silent	SNP	ENST00000264731.3	37	CCDS3293.1																																																																																				0.498	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1		NM_003722	
TRPM2	7226	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	45859019	45859019	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr21:45859019T>A	ENST00000397928.1	+	30	4682	c.4237T>A	c.(4237-4239)Tct>Act	p.S1413T	snoZ6_ENST00000581669.1_RNA|TRPM2_ENST00000300482.5_Missense_Mutation_p.S1413T|TRPM2_ENST00000397932.2_Missense_Mutation_p.S1463T|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.S1359T|snoZ6_ENST00000583496.1_RNA	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1413	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)	p.S1413T(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCACTGGCCGTCTTTTGAAAA	0.592																																																	1	Substitution - Missense(1)	kidney(1)											128.0	86.0	100.0					21																	45859019		2203	4300	6503	SO:0001583	missense	7226			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.4237T>A	21.37:g.45859019T>A	ENSP00000381023:p.Ser1413Thr	Somatic		WXS	Illumina HiSeq	Phase_I	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	T	6.904	0.536413	0.13188	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932;ENST00000540347	T;T;T;T	0.13196	2.61;2.61;2.61;2.61	4.2	-8.39	0.00969	NUDIX hydrolase domain (1);NUDIX hydrolase domain-like (1);	0.941754	0.08885	N	0.879461	T	0.05640	0.0148	L	0.33293	1	0.09310	N	1	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.0;0.0	T	0.42616	-0.9441	10	0.11794	T	0.64	-4.1869	0.343	0.00337	0.313:0.2491:0.2355:0.2023	.	94;1463;1199;1413	B4DVI8;E9PGK7;Q5KTC1;O94759	.;.;.;TRPM2_HUMAN	T	1413;1413;1359;1463;157	ENSP00000300482:S1413T;ENSP00000381023:S1413T;ENSP00000300481:S1359T;ENSP00000381026:S1463T	ENSP00000300481:S1359T	S	+	1	0	TRPM2	44683447	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-1.745000	0.01831	-1.996000	0.00970	0.260000	0.18958	TCT		0.592	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1		NM_003307	
UBXN11	91544	broad.mit.edu	37	1	26623424	26623424	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr1:26623424C>G	ENST00000374222.1	-	8	882	c.418G>C	c.(418-420)Gtc>Ctc	p.V140L	UBXN11_ENST00000374217.2_Missense_Mutation_p.V107L|UBXN11_ENST00000535108.1_Intron|UBXN11_ENST00000314675.7_Intron|UBXN11_ENST00000374221.3_Missense_Mutation_p.V140L|UBXN11_ENST00000357089.4_Missense_Mutation_p.V107L|UBXN11_ENST00000374223.1_5'UTR|UBXN11_ENST00000436301.2_Missense_Mutation_p.V65L			Q5T124	UBX11_HUMAN	UBX domain protein 11	140						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.V140L(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						ATCTCCCTGACCTGCCGCTGC	0.662																																																	1	Substitution - Missense(1)	kidney(1)											32.0	38.0	36.0					1																	26623424		2062	4218	6280	SO:0001583	missense	91544			AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.418G>C	1.37:g.26623424C>G	ENSP00000363339:p.Val140Leu	Somatic		WXS	Illumina GAIIx	Phase_I	D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	ENST00000374222.1	37	CCDS41288.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783615	0.49891	.	.	ENSG00000158062	ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217;ENST00000389235;ENST00000436301;ENST00000374215;ENST00000452980;ENST00000442942;ENST00000450041;ENST00000423664;ENST00000421827	T;T;T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.42	2.46	0.29980	.	0.434721	0.24470	N	0.038253	T	0.40839	0.1133	L	0.56769	1.78	0.46798	D	0.9992	B;P;P;P	0.46277	0.451;0.875;0.587;0.595	B;B;B;B	0.40825	0.086;0.341;0.146;0.123	T	0.34900	-0.9810	10	0.72032	D	0.01	-15.355	7.3061	0.26449	0.0:0.7269:0.0:0.2731	.	65;107;102;140	B7Z3N8;Q5T124-2;Q5T124-4;Q5T124	.;.;.;UBX11_HUMAN	L	107;140;140;107;107;65;102;107;107;65;102;140	ENSP00000349601:V107L;ENSP00000363338:V140L;ENSP00000363339:V140L;ENSP00000363334:V107L;ENSP00000393858:V65L;ENSP00000363332:V102L;ENSP00000410357:V107L;ENSP00000404956:V107L;ENSP00000413448:V65L;ENSP00000394036:V102L	ENSP00000349601:V107L	V	-	1	0	UBXN11	26496011	0.994000	0.37717	0.799000	0.32177	0.982000	0.71751	0.601000	0.24119	0.738000	0.32606	0.655000	0.94253	GTC		0.662	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1		NM_145345	
UNC13C	440279	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	54626051	54626051	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr15:54626051G>A	ENST00000260323.11	+	15	4581	c.4581G>A	c.(4579-4581)atG>atA	p.M1527I	UNC13C_ENST00000537900.1_Missense_Mutation_p.M1525I|UNC13C_ENST00000545554.1_Missense_Mutation_p.M1527I	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1527					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.M1527I(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTTTAGGATGAAGGTATCTC	0.373																																																	2	Substitution - Missense(2)	kidney(2)											133.0	120.0	124.0					15																	54626051		1852	4078	5930	SO:0001583	missense	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4581G>A	15.37:g.54626051G>A	ENSP00000260323:p.Met1527Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856356	0.71834	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.80653	-1.4;-1.4;-1.4	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.82486	0.5047	M	0.74881	2.28	0.80722	D	1	B;B	0.29232	0.238;0.044	B;B	0.32864	0.154;0.022	T	0.81854	-0.0741	10	0.72032	D	0.01	.	17.5932	0.88003	0.0:0.0:1.0:0.0	.	1527;1527	F5H090;Q8NB66	.;UN13C_HUMAN	I	1527;1527;1525	ENSP00000260323:M1527I;ENSP00000438156:M1527I;ENSP00000442569:M1525I	ENSP00000260323:M1527I	M	+	3	0	UNC13C	52413343	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.575000	0.98187	2.826000	0.97356	0.655000	0.94253	ATG		0.373	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3		NM_173166	
USP34	9736	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	61566797	61566797	+	Silent	SNP	A	A	G			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr2:61566797A>G	ENST00000398571.2	-	17	2596	c.2520T>C	c.(2518-2520)caT>caC	p.H840H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	840					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.H840H(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGTTGAATTGATGTTTATGAA	0.328																																																	1	Substitution - coding silent(1)	kidney(1)											70.0	61.0	64.0					2																	61566797		1815	4072	5887	SO:0001819	synonymous_variant	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.2520T>C	2.37:g.61566797A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	CCDS42686.1																																																																																				0.328	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			
VAV1	7409	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	6853050	6853050	+	Silent	SNP	C	C	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr19:6853050C>T	ENST00000602142.1	+	25	2374	c.2292C>T	c.(2290-2292)ccC>ccT	p.P764P	VAV1_ENST00000596764.1_Silent_p.P732P|VAV1_ENST00000539284.1_Silent_p.P667P|VAV1_ENST00000304076.2_Silent_p.P742P|VAV1_ENST00000599806.1_Silent_p.P709P	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	764	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P764P(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TGCAGTTCCCCTTCAAGGAGC	0.542																																																	1	Substitution - coding silent(1)	kidney(1)											86.0	79.0	81.0					19																	6853050		2203	4300	6503	SO:0001819	synonymous_variant	7409				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.2292C>T	19.37:g.6853050C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DVK9|M0QXX6|Q15860	Silent	SNP	ENST00000602142.1	37	CCDS12174.1																																																																																				0.542	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191507	10191507	+	Frame_Shift_Del	DEL	G	G	-	rs5030821		TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr3:10191507delG	ENST00000256474.2	+	3	1340	c.500delG	c.(499-501)cggfs	p.R167fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Frame_Shift_Del_p.R126fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	167			R -> G (in VHLD; type I-II). {ECO:0000269|PubMed:9829911}.|R -> Q (in pheochromocytoma and VHLD; type II; common mutation; dbSNP:rs5030821). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|R -> W (in pheochromocytoma and VHLD; type II; common mutation; dbSNP:rs5030820). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:8592333, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.		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.R167Q(4)|p.V166fs*6(1)|p.S168fs*2(1)|p.R167fs*6(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)		CAGGTTGTCCGGAGCCTAGTC	0.512		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"""	7	Substitution - Missense(4)|Deletion - Frameshift(3)	kidney(7)	GRCh37	CM941382	VHL	M	rs5030821						91.0	83.0	85.0					3																	10191507		2203	4300	6503	SO:0001589	frameshift_variant	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.500delG	3.37:g.10191507delG	ENSP00000256474:p.Arg167fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.512	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
VHL	7428	hgsc.bcm.edu	37	3	10191509	10191509	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr3:10191509A>T	ENST00000256474.2	+	3	1342	c.502A>T	c.(502-504)Agc>Tgc	p.S168C	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Missense_Mutation_p.S127C	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	168					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.V170fs*31(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)		GGTTGTCCGGAGCCTAGTCAA	0.512		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"""	1	Deletion - Frameshift(1)	kidney(1)											92.0	83.0	86.0					3																	10191509		2203	4300	6503	SO:0001583	missense	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.502A>T	3.37:g.10191509A>T	ENSP00000256474:p.Ser168Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	13.28	2.189725	0.38707	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99825	-6.97;-6.97	4.86	3.62	0.41486	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.151549	0.64402	D	0.000017	D	0.98667	0.9553	N	0.21448	0.665	0.33290	D	0.563414	B;B	0.24317	0.101;0.064	B;B	0.26310	0.068;0.034	D	0.99987	1.3484	10	0.59425	D	0.04	-7.2742	9.2542	0.37573	0.8381:0.0:0.0:0.1619	.	127;168	P40337-2;P40337	.;VHL_HUMAN	C	168;127;86	ENSP00000256474:S168C;ENSP00000344757:S127C	ENSP00000256474:S168C	S	+	1	0	VHL	10166509	0.982000	0.34865	0.906000	0.35671	0.740000	0.42216	2.627000	0.46469	2.162000	0.67917	0.533000	0.62120	AGC		0.512	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
WHSC1L1	54904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	38135924	38135924	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr8:38135924T>G	ENST00000317025.8	-	22	4284	c.3767A>C	c.(3766-3768)gAg>gCg	p.E1256A	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.E1207A|RP11-513D5.5_ENST00000529325.1_RNA|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.E1245A	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1256	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.E1256A(1)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AAATGTTAACTCCATCCCTGA	0.443			T	NUP98	AML																																			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	1	Substitution - Missense(1)	kidney(1)											43.0	45.0	44.0					8																	38135924		1906	4140	6046	SO:0001583	missense	54904			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.3767A>C	8.37:g.38135924T>G	ENSP00000313983:p.Glu1256Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.905036	0.92035	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	D;D;D	0.94723	-3.5;-3.5;-3.5	5.59	5.59	0.84812	SET domain (3);	0.000000	0.48767	U	0.000166	D	0.98582	0.9526	H	0.99312	4.51	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.99640	1.0988	10	0.66056	D	0.02	.	15.7646	0.78117	0.0:0.0:0.0:1.0	.	1245;1207;1256	B7ZL11;Q9BZ95-2;Q9BZ95	.;.;NSD3_HUMAN	A	1207;1256;1193;1245	ENSP00000393284:E1207A;ENSP00000313983:E1256A;ENSP00000434730:E1245A	ENSP00000313983:E1256A	E	-	2	0	WHSC1L1	38255081	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.139000	0.66308	0.477000	0.44152	GAG		0.443	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3		NM_023034	
XRCC4	7518	hgsc.bcm.edu;ucsc.edu	37	5	82491622	82491623	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr5:82491622_82491623insA	ENST00000511817.1	+	4	429_430	c.349_350insA	c.(349-351)gaafs	p.E117fs	XRCC4_ENST00000282268.3_Frame_Shift_Ins_p.E117fs|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000396027.4_Frame_Shift_Ins_p.E117fs|XRCC4_ENST00000338635.6_Frame_Shift_Ins_p.E117fs			Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	117					cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|immunoglobulin V(D)J recombination (GO:0033152)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ligase activity (GO:0051351)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytosol (GO:0005829)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		AGAGAAAGTTGAAAACCCAGCT	0.361								Non-homologous end-joining																																									0																																										SO:0001589	frameshift_variant	7518			AB017445	CCDS4058.1, CCDS4059.1	5q14.2	2008-02-05			ENSG00000152422	ENSG00000152422			12831	protein-coding gene	gene with protein product	"""X-ray repair, complementing defective, repair in Chinese hamster"", ""DNA repair protein XRCC4"""	194363				1697445, 7665175	Standard	NM_022406		Approved		uc003kib.3	Q13426	OTTHUMG00000131319	ENST00000511817.1:c.353dupA	5.37:g.82491626_82491626dupA	ENSP00000421491:p.Glu117fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K3X4|Q9BS72|Q9UP94	Frame_Shift_Ins	INS	ENST00000511817.1	37	CCDS4059.1																																																																																				0.361	XRCC4-003	NOVEL	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369624.1		NM_022550	
ZNF250	58500	hgsc.bcm.edu;ucsc.edu	37	8	146107815	146107816	+	Frame_Shift_Ins	INS	-	-	T	rs371435155		TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr8:146107815_146107816insT	ENST00000292579.7	-	6	883_884	c.767_768insA	c.(766-768)gagfs	p.E256fs	ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Frame_Shift_Ins_p.E251fs	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	256					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)			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		ACTCATTACACTCATAGGGCTT	0.48																																					NSCLC(16;520 556 24096 40084 43446)												0																																										SO:0001589	frameshift_variant	58500			AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"""Zinc fingers, C2H2-type"", ""-"""	13044	protein-coding gene	gene with protein product			"""zinc finger protein 647"""	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.768dupA	8.37:g.146107816_146107816dupT	ENSP00000292579:p.Glu256fs	Somatic		WXS	Illumina HiSeq	Phase_I	D3DWP1|Q59HE9|Q8N942|Q96AH9	Frame_Shift_Ins	INS	ENST00000292579.7	37	CCDS34972.1																																																																																				0.480	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1		NM_021061	
ZXDC	79364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	126160625	126160625	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4963-01A-01D-1462-08	TCGA-BP-4963-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	154bfa5d-0d9a-40c6-a2a5-bde1054702c3	b04cb512-8edf-466c-af10-9a2fba9bc4a9	g.chr3:126160625G>A	ENST00000389709.3	-	8	2430	c.2377C>T	c.(2377-2379)Cag>Tag	p.Q793*		NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	793	Interaction with CIITA.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q793*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		AGCTGGACCTGGACGCCCTGC	0.672																																																	1	Substitution - Nonsense(1)	kidney(1)											30.0	37.0	35.0					3																	126160625		2108	4213	6321	SO:0001587	stop_gained	79364			AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.2377C>T	3.37:g.126160625G>A	ENSP00000374359:p.Gln793*	Somatic		WXS	Illumina HiSeq	Phase_I	C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Nonsense_Mutation	SNP	ENST00000389709.3	37	CCDS43145.1	.	.	.	.	.	.	.	.	.	.	G	38	6.706321	0.97776	.	.	ENSG00000070476	ENST00000389709	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.6184	13.9589	0.64166	0.0:0.0:1.0:0.0	.	.	.	.	X	793	.	ENSP00000374359:Q793X	Q	-	1	0	ZXDC	127643315	1.000000	0.71417	0.044000	0.18714	0.003000	0.03518	5.201000	0.65163	2.355000	0.79922	0.591000	0.81541	CAG		0.672	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2		NM_025112	
