#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ALDH4A1	8659	hgsc.bcm.edu	37	1	19212058	19212058	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr1:19212058A>G	ENST00000375341.3	-	5	619	c.362T>C	c.(361-363)aTt>aCt	p.I121T	ALDH4A1_ENST00000538309.1_Missense_Mutation_p.I61T|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.I121T|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.I121T|ALDH4A1_ENST00000454547.1_5'UTR|MIR4695_ENST00000577305.1_RNA|RP13-279N23.2_ENST00000494072.3_3'UTR	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	121					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCGGTCTGCAATAGGCTTCAG	0.622																																																	0													42.0	38.0	40.0					1																	19212058		2203	4300	6503	SO:0001583	missense	8659			U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.362T>C	1.37:g.19212058A>G	ENSP00000364490:p.Ile121Thr		A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	ENST00000375341.3	37	CCDS188.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.155960	0.57259	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309;ENST00000375335;ENST00000454547;ENST00000375334;ENST00000432718	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.41	5.41	0.78517	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.281446	0.34725	N	0.003722	T	0.68229	0.2978	N	0.19112	0.55	0.34453	D	0.70089	B	0.19935	0.04	B	0.29440	0.102	T	0.74009	-0.3802	10	0.62326	D	0.03	-12.0511	14.2726	0.66159	1.0:0.0:0.0:0.0	.	121	P30038	AL4A1_HUMAN	T	121;121;121;61;105;19;61;105	ENSP00000290597:I121T;ENSP00000364490:I121T;ENSP00000446071:I121T;ENSP00000442988:I61T;ENSP00000393209:I105T	ENSP00000290597:I121T	I	-	2	0	ALDH4A1	19084645	0.951000	0.32395	0.203000	0.23512	0.884000	0.51177	8.600000	0.90860	2.063000	0.61619	0.459000	0.35465	ATT		0.622	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1			
ASB15	142685	hgsc.bcm.edu;ucsc.edu	37	7	123257653	123257653	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr7:123257653G>T	ENST00000451558.1	+	9	834	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	ASB15_ENST00000451215.1_Nonsense_Mutation_p.E105*|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000275699.3_Nonsense_Mutation_p.E105*|ASB15_ENST00000434204.1_Nonsense_Mutation_p.E105*|RP11-390E23.3_ENST00000429396.1_RNA|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000540573.1_Nonsense_Mutation_p.E105*|RP11-390E23.3_ENST00000418409.1_RNA			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	105					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GACACTCTGGGAATTCAAGAC	0.383																																																	0													134.0	133.0	133.0					7																	123257653		2203	4300	6503	SO:0001587	stop_gained	142685			AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.313G>T	7.37:g.123257653G>T	ENSP00000397655:p.Glu105*		Q3ZCP3|Q3ZCP5|Q68D37	Nonsense_Mutation	SNP	ENST00000451558.1	37	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	G	36	5.610376	0.96637	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000447789;ENST00000275699	.	.	.	5.69	5.69	0.88448	.	0.145206	0.46758	D	0.000267	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-15.6735	19.4196	0.94715	0.0:0.0:1.0:0.0	.	.	.	.	X	105	.	ENSP00000275699:E105X	E	+	1	0	ASB15	123044889	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.049000	0.71053	2.695000	0.91970	0.650000	0.86243	GAA		0.383	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			
ATF6	22926	hgsc.bcm.edu;ucsc.edu	37	1	161762092	161762092	+	Silent	SNP	C	C	T			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr1:161762092C>T	ENST00000367942.3	+	6	730	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	221					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)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	AACCAATTATCAGTTTACAAC	0.408																																																	0													164.0	168.0	166.0					1																	161762092		2203	4300	6503	SO:0001819	synonymous_variant	22926			AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.663C>T	1.37:g.161762092C>T			O15139|Q5VW62|Q6IPB5|Q9UEC9	Silent	SNP	ENST00000367942.3	37	CCDS1235.1																																																																																				0.408	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2		NM_007348	
BTBD18	643376	hgsc.bcm.edu;ucsc.edu	37	11	57518583	57518583	+	Missense_Mutation	SNP	G	G	C	rs529479276		TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr11:57518583G>C	ENST00000436147.3	-	1	265	c.78C>G	c.(76-78)caC>caG	p.H26Q	CTNND1_ENST00000524630.1_5'Flank|CTNND1_ENST00000399039.4_5'Flank|TMX2-CTNND1_ENST00000528395.1_Intron|BTBD18_ENST00000422652.1_Missense_Mutation_p.H26Q|CTNND1_ENST00000529919.1_5'Flank|RP11-691N7.6_ENST00000531074.1_Intron			B2RXH4	BTBDI_HUMAN	BTB (POZ) domain containing 18	26										endometrium(3)|kidney(1)	4						TCTGCTGCTGGTGATGAAGCT	0.463																																																	0													81.0	84.0	83.0					11																	57518583		692	1591	2283	SO:0001583	missense	643376				CCDS44603.1	11q12.1	2013-01-08			ENSG00000233436	ENSG00000233436		"""BTB/POZ domain containing"""	37214	protein-coding gene	gene with protein product							Standard	NM_001145101		Approved		uc010rjy.2	B2RXH4	OTTHUMG00000167203	ENST00000436147.3:c.78C>G	11.37:g.57518583G>C	ENSP00000397020:p.His26Gln			Missense_Mutation	SNP	ENST00000436147.3	37	CCDS44603.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626103	0.46840	.	.	ENSG00000233436	ENST00000422652;ENST00000436147;ENST00000527995	T;T;T	0.65364	-0.15;-0.15;-0.15	5.19	3.29	0.37713	BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	T	0.35128	0.0921	N	0.02391	-0.57	0.24516	N	0.994186	B	0.15930	0.015	B	0.22152	0.038	T	0.25779	-1.0122	9	0.40728	T	0.16	.	7.2116	0.25937	0.0876:0.0:0.7427:0.1697	.	26	B2RXH4	BTBDI_HUMAN	Q	26	ENSP00000394472:H26Q;ENSP00000397020:H26Q;ENSP00000432341:H26Q	ENSP00000394472:H26Q	H	-	3	2	BTBD18	57275159	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.215000	0.17562	0.569000	0.29329	0.655000	0.94253	CAC		0.463	BTBD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393718.2		NM_001145101	
CACNA1C	775	hgsc.bcm.edu	37	12	2786309	2786310	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr12:2786309_2786310delGT	ENST00000347598.4	+	42	5022_5023	c.5022_5023delGT	c.(5020-5025)gagtacfs	p.Y1675fs	CACNA1C_ENST00000399644.1_Frame_Shift_Del_p.Y1627fs|CACNA1C_ENST00000344100.3_Frame_Shift_Del_p.Y1668fs|CACNA1C_ENST00000399655.1_Frame_Shift_Del_p.Y1627fs|CACNA1C_ENST00000399634.1_Frame_Shift_Del_p.Y1627fs|CACNA1C_ENST00000399601.1_Frame_Shift_Del_p.Y1627fs|CACNA1C_ENST00000399641.1_Frame_Shift_Del_p.Y1627fs|CACNA1C_ENST00000399597.1_Frame_Shift_Del_p.Y1627fs|CACNA1C_ENST00000399617.1_Frame_Shift_Del_p.Y1627fs|CACNA1C_ENST00000399629.1_Frame_Shift_Del_p.Y1644fs|CACNA1C_ENST00000399606.1_Frame_Shift_Del_p.Y1647fs|CACNA1C_ENST00000406454.3_Frame_Shift_Del_p.Y1627fs|CACNA1C_ENST00000335762.5_Frame_Shift_Del_p.Y1652fs|CACNA1C_ENST00000399621.1_Frame_Shift_Del_p.Y1646fs|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000327702.7_Frame_Shift_Del_p.Y1627fs|CACNA1C_ENST00000399637.1_Frame_Shift_Del_p.Y1646fs|CACNA1C_ENST00000399649.1_Frame_Shift_Del_p.Y1633fs|CACNA1C_ENST00000402845.3_Frame_Shift_Del_p.Y1646fs|CACNA1C_ENST00000399603.1_Frame_Shift_Del_p.Y1627fs|CACNA1C_ENST00000399595.1_Frame_Shift_Del_p.Y1635fs|CACNA1C_ENST00000399591.1_Frame_Shift_Del_p.Y1635fs|CACNA1C_ENST00000399638.1_Frame_Shift_Del_p.Y1655fs	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1675					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGATCCAGGAGTACTTCCGGAA	0.604																																																	0																																										SO:0001589	frameshift_variant	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5022_5023delGT	12.37:g.2786309_2786310delGT	ENSP00000266376:p.Tyr1675fs		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Frame_Shift_Del	DEL	ENST00000347598.4	37	CCDS44788.1																																																																																				0.604	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1		NM_000719	
CTSW	1521	hgsc.bcm.edu	37	11	65650835	65650835	+	Silent	SNP	T	T	A			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr11:65650835T>A	ENST00000307886.3	+	9	1006	c.960T>A	c.(958-960)ccT>ccA	p.P320P	FIBP_ENST00000426652.2_5'Flank|CTSW_ENST00000528419.1_Silent_p.P320P	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	320					immune response (GO:0006955)	membrane (GO:0016020)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		AGCCTCAGCCTCCACACCCCA	0.587																																																	0													96.0	94.0	94.0					11																	65650835		2201	4296	6497	SO:0001819	synonymous_variant	1521			AF055903	CCDS8117.1	11q13.1	2008-02-01	2006-12-05		ENSG00000172543	ENSG00000172543		"""Cathepsins"""	2546	protein-coding gene	gene with protein product		602364	"""cathepsin W (lymphopain)"""			9108299, 9675123	Standard	NM_001335		Approved		uc001ogc.1	P56202	OTTHUMG00000166663	ENST00000307886.3:c.960T>A	11.37:g.65650835T>A			Q86VT4	Silent	SNP	ENST00000307886.3	37	CCDS8117.1																																																																																				0.587	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391042.1		NM_001335	
CCDC83	220047	hgsc.bcm.edu;ucsc.edu	37	11	85630410	85630410	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr11:85630410C>T	ENST00000342404.3	+	11	1315	c.1099C>T	c.(1099-1101)Ccc>Tcc	p.P367S	CCDC83_ENST00000280245.4_Missense_Mutation_p.P398S|RP11-90K17.2_ENST00000531414.1_RNA|CCDC83_ENST00000376067.1_Missense_Mutation_p.P267S			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	367										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AAACTTGGGCCCCCTGGGAGT	0.408																																																	0													130.0	126.0	128.0					11																	85630410		2203	4299	6502	SO:0001583	missense	220047			AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.1099C>T	11.37:g.85630410C>T	ENSP00000344512:p.Pro367Ser		B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Missense_Mutation	SNP	ENST00000342404.3	37		.	.	.	.	.	.	.	.	.	.	C	19.37	3.815528	0.70912	.	.	ENSG00000150676	ENST00000280245;ENST00000376067;ENST00000342404	T;T;T	0.41065	1.01;1.01;1.01	5.62	4.7	0.59300	.	0.083447	0.52532	D	0.000066	T	0.54271	0.1848	M	0.72118	2.19	0.38993	D	0.959191	D;D;D	0.60160	0.987;0.976;0.976	P;P;P	0.57425	0.82;0.698;0.698	T	0.56709	-0.7934	9	.	.	.	-11.6947	9.7788	0.40637	0.0:0.9083:0.0:0.0917	.	267;367;398	Q8IWF9-3;Q8IWF9;Q8IWF9-2	.;CCD83_HUMAN;.	S	398;267;367	ENSP00000280245:P398S;ENSP00000365235:P267S;ENSP00000344512:P367S	.	P	+	1	0	CCDC83	85308058	0.431000	0.25546	1.000000	0.80357	0.861000	0.49209	2.272000	0.43373	2.822000	0.97130	0.650000	0.86243	CCC		0.408	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1		NM_173556	
DBNL	28988	hgsc.bcm.edu	37	7	44099692	44099692	+	Missense_Mutation	SNP	C	C	A	rs151003280		TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr7:44099692C>A	ENST00000448521.1	+	12	1191	c.1093C>A	c.(1093-1095)Cag>Aag	p.Q365K	DBNL_ENST00000452943.1_Missense_Mutation_p.Q341K|DBNL_ENST00000440166.1_Missense_Mutation_p.Q262K|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000468694.1_Missense_Mutation_p.Q374K|DBNL_ENST00000494774.1_Missense_Mutation_p.Q366K|DBNL_ENST00000456905.1_Missense_Mutation_p.Q317K|DBNL_ENST00000490734.2_Missense_Mutation_p.Q271K	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	365					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)	p.Q366*(1)		breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						CCACCACATTCAGGGCCAGGG	0.617																																					NSCLC(68;573 1327 18604 34760 37992)												1	Substitution - Nonsense(1)	skin(1)											58.0	49.0	52.0					7																	44099692		2203	4300	6503	SO:0001583	missense	28988			AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.1093C>A	7.37:g.44099692C>A	ENSP00000411701:p.Gln365Lys		A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Missense_Mutation	SNP	ENST00000448521.1	37	CCDS34623.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	0.711|0.711|0.711	-0.787050|-0.787050|-0.787050	0.02907|0.02907|0.02907	.|.|.	.|.|.	ENSG00000136279|ENSG00000136279|ENSG00000136279	ENST00000452661|ENST00000448521;ENST00000456905;ENST00000440166;ENST00000452943;ENST00000468694;ENST00000494774;ENST00000490734;ENST00000539475|ENST00000432854	.|T;T;T;T;T;T;T|.	.|0.30182|.	.|1.94;2.26;2.27;2.27;1.54;1.95;2.27|.	4.17|4.17|4.17	2.23|2.23|2.23	0.28157|0.28157|0.28157	.|Src homology-3 domain (1);|.	.|1.497680|.	.|0.03947|.	.|N|.	.|0.287853|.	T|T|.	0.32010|0.32010|.	0.0815|0.0815|.	N|N|N	0.22421|0.22421|0.22421	0.69|0.69|0.69	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B;B;B;B;B;B;B;B;B|.	.|0.34399|.	.|0.255;0.179;0.011;0.278;0.054;0.278;0.452;0.003;0.452|.	.|B;B;B;B;B;B;B;B;B|.	.|0.33454|.	.|0.104;0.057;0.006;0.057;0.091;0.057;0.164;0.017;0.164|.	T|T|.	0.20505|0.20505|.	-1.0273|-1.0273|.	5|10|.	.|0.29301|.	.|T|.	.|0.29|.	-13.7865|-13.7865|-13.7865	11.8902|11.8902|11.8902	0.52624|0.52624|0.52624	0.0:0.4733:0.5267:0.0|0.0:0.4733:0.5267:0.0|0.0:0.4733:0.5267:0.0	.|.|.	.|262;314;295;317;271;341;374;365;366|.	.|B4DEM2;B4DXL9;B4DDU5;B4DDP6;C9J7P1;B4DDD6;Q9UJU6-3;Q9UJU6;Q9UJU6-2|.	.|.;.;.;.;.;.;.;DBNL_HUMAN;.|.	L|K|X	72|365;317;262;341;374;366;271;295|293	.|ENSP00000411701:Q365K;ENSP00000416421:Q317K;ENSP00000415173:Q262K;ENSP00000405343:Q341K;ENSP00000417653:Q374K;ENSP00000419992:Q366K;ENSP00000417749:Q271K|.	.|ENSP00000415173:Q262K|.	F|Q|S	+|+|+	3|1|2	2|0|0	DBNL|DBNL|DBNL	44066217|44066217|44066217	.|.|.	.|.|.	0.164000|0.164000|0.164000	0.22755|0.22755|0.22755	0.485000|0.485000|0.485000	0.33311|0.33311|0.33311	.|.|.	.|.|.	0.180000|0.180000|0.180000	0.19960|0.19960|0.19960	0.558000|0.558000|0.558000	0.71614|0.71614|0.71614	TTC|CAG|TCA		0.617	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339572.2		NM_014063	
DOCK7	85440	hgsc.bcm.edu;ucsc.edu	37	1	62954615	62954615	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr1:62954615A>G	ENST00000340370.5	-	41	5407	c.5390T>C	c.(5389-5391)aTt>aCt	p.I1797T	DOCK7_ENST00000251157.5_Missense_Mutation_p.I1819T	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1828	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTGATGAACAATTTTGCTGAA	0.338																																																	0													132.0	135.0	134.0					1																	62954615		2203	4300	6503	SO:0001583	missense	85440				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5390T>C	1.37:g.62954615A>G	ENSP00000340742:p.Ile1797Thr		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.285423	0.80803	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	T;T	0.05996	3.36;3.36	5.93	5.93	0.95920	.	0.047969	0.85682	D	0.000000	T	0.31327	0.0793	H	0.94462	3.54	0.80722	D	1	B;B;B;B;B;B	0.32862	0.087;0.078;0.068;0.043;0.387;0.35	B;B;B;B;B;P	0.48227	0.06;0.301;0.068;0.1;0.415;0.571	T	0.13710	-1.0499	10	0.87932	D	0	.	16.3871	0.83514	1.0:0.0:0.0:0.0	.	1828;1819;1797;1788;1788;1819	Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	DOCK7_HUMAN;.;.;.;.;.	T	1828;1819;1797;558	ENSP00000251157:I1819T;ENSP00000340742:I1797T	ENSP00000251157:I1819T	I	-	2	0	DOCK7	62727203	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.962000	0.93254	2.270000	0.75569	0.482000	0.46254	ATT		0.338	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1		NM_033407	
DPYSL4	10570	hgsc.bcm.edu;ucsc.edu	37	10	134013907	134013907	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr10:134013907G>A	ENST00000338492.4	+	9	1023	c.859G>A	c.(859-861)Ggt>Agt	p.G287S	DPYSL4_ENST00000368627.1_Missense_Mutation_p.G187S|DPYSL4_ENST00000368629.1_Missense_Mutation_p.G187S	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	287					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.G287S(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GGGCACCGACGGTTCACACTA	0.667																																																	1	Substitution - Missense(1)	lung(1)											122.0	110.0	114.0					10																	134013907		2203	4300	6503	SO:0001583	missense	10570			AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.859G>A	10.37:g.134013907G>A	ENSP00000339850:p.Gly287Ser		B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843898	0.71488	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	D;D;D	0.89485	-2.52;-2.52;-2.52	4.58	4.58	0.56647	Amidohydrolase 1 (1);	0.112094	0.64402	D	0.000013	D	0.93953	0.8064	M	0.70903	2.155	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94482	0.7694	10	0.72032	D	0.01	-26.0084	18.0064	0.89211	0.0:0.0:1.0:0.0	.	287	O14531	DPYL4_HUMAN	S	287;187;187	ENSP00000339850:G287S;ENSP00000357618:G187S;ENSP00000357616:G187S	ENSP00000339850:G287S	G	+	1	0	DPYSL4	133863897	1.000000	0.71417	0.573000	0.28510	0.043000	0.13939	7.263000	0.78421	2.558000	0.86282	0.555000	0.69702	GGT		0.667	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			
ENO1	2023	hgsc.bcm.edu	37	1	8925490	8925490	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr1:8925490A>G	ENST00000234590.4	-	8	838	c.719T>C	c.(718-720)gTg>gCg	p.V240A		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	240					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCCGATGACCACCTTATCAGT	0.537																																					Esophageal Squamous(21;302 608 19946 22210 33560)												0													93.0	86.0	88.0					1																	8925490		2203	4300	6503	SO:0001583	missense	2023			BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.719T>C	1.37:g.8925490A>G	ENSP00000234590:p.Val240Ala		B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	ENST00000234590.4	37	CCDS97.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.866022	0.91511	.	.	ENSG00000074800	ENST00000234590	T	0.59638	0.25	5.8	5.8	0.92144	Enolase, C-terminal (1);	0.175999	0.49916	D	0.000129	T	0.80048	0.4552	M	0.89030	3	0.39721	D	0.971472	P;P;P;P	0.43701	0.688;0.815;0.638;0.815	D;D;P;D	0.65233	0.933;0.911;0.89;0.911	D	0.84095	0.0392	10	0.87932	D	0	-58.5505	15.3296	0.74196	1.0:0.0:0.0:0.0	.	144;78;147;240	E2DRY6;Q9BT62;P06733-2;P06733	.;.;.;ENOA_HUMAN	A	240	ENSP00000234590:V240A	ENSP00000234590:V240A	V	-	2	0	ENO1	8848077	1.000000	0.71417	0.980000	0.43619	0.771000	0.43674	9.253000	0.95501	2.226000	0.72624	0.459000	0.35465	GTG		0.537	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1		NM_001428	
FRZB	2487	hgsc.bcm.edu;ucsc.edu	37	2	183730988	183730988	+	Missense_Mutation	SNP	A	A	T	rs139461108		TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr2:183730988A>T	ENST00000295113.4	-	1	902	c.293T>A	c.(292-294)aTt>aAt	p.I98N		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	98	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CTGGAAGTCAATGGTGCAGAT	0.622																																																	0													76.0	70.0	72.0					2																	183730988		2203	4300	6503	SO:0001583	missense	2487			U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"""Secreted frizzled-related proteins"""	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.293T>A	2.37:g.183730988A>T	ENSP00000295113:p.Ile98Asn		O00181|Q99686	Missense_Mutation	SNP	ENST00000295113.4	37	CCDS2286.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.423094	0.83559	.	.	ENSG00000162998	ENST00000295113	T	0.75050	-0.9	4.78	4.78	0.61160	Frizzled domain (5);	0.131843	0.53938	D	0.000044	T	0.77883	0.4197	L	0.41710	1.295	0.80722	D	1	D	0.61697	0.99	P	0.58620	0.842	T	0.80027	-0.1554	10	0.59425	D	0.04	.	14.463	0.67465	1.0:0.0:0.0:0.0	.	98	Q92765	SFRP3_HUMAN	N	98	ENSP00000295113:I98N	ENSP00000295113:I98N	I	-	2	0	FRZB	183439233	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.031000	0.93731	1.992000	0.58205	0.379000	0.24179	ATT		0.622	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255808.1		NM_001463	
GPCPD1	56261	hgsc.bcm.edu;ucsc.edu	37	20	5559154	5559154	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr20:5559154C>A	ENST00000379019.4	-	8	789	c.577G>T	c.(577-579)Gac>Tac	p.D193Y	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	193					glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						AACTCATTGTCGCTTATTAAG	0.473																																																	0													132.0	108.0	116.0					20																	5559154		2203	4300	6503	SO:0001583	missense	56261				CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.577G>T	20.37:g.5559154C>A	ENSP00000368305:p.Asp193Tyr		D3DW06|Q9BQL8|Q9NUX0	Missense_Mutation	SNP	ENST00000379019.4	37	CCDS13090.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793604	0.70452	.	.	ENSG00000125772	ENST00000379019	T	0.47869	0.83	5.35	4.41	0.53225	.	0.103309	0.64402	D	0.000004	T	0.32615	0.0835	N	0.24115	0.695	0.46798	D	0.999209	D	0.54964	0.969	B	0.42625	0.393	T	0.06481	-1.0824	10	0.35671	T	0.21	-9.7939	9.8733	0.41189	0.0:0.7847:0.0:0.2153	.	193	Q9NPB8	GPCP1_HUMAN	Y	193	ENSP00000368305:D193Y	ENSP00000368305:D193Y	D	-	1	0	GPCPD1	5507154	0.443000	0.25641	0.995000	0.50966	0.992000	0.81027	1.030000	0.30153	1.397000	0.46682	0.655000	0.94253	GAC		0.473	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1		NM_019593	
GPR179	440435	hgsc.bcm.edu;ucsc.edu	37	17	36492024	36492024	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr17:36492024T>A	ENST00000342292.4	-	5	1251	c.1231A>T	c.(1231-1233)Atc>Ttc	p.I411F		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	411					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GATGCCCAGATCCTCTGTGAA	0.542																																																	0													71.0	71.0	71.0					17																	36492024		2050	4198	6248	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.1231A>T	17.37:g.36492024T>A	ENSP00000345060:p.Ile411Phe			Missense_Mutation	SNP	ENST00000342292.4	37	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.945869	0.73672	.	.	ENSG00000188888	ENST00000342292	D	0.88896	-2.44	5.55	3.35	0.38373	GPCR, family 3, C-terminal (2);	0.148947	0.41194	D	0.000925	D	0.93138	0.7815	M	0.80616	2.505	0.45648	D	0.998576	D	0.76494	0.999	D	0.71414	0.973	D	0.92044	0.5643	10	0.72032	D	0.01	-14.2104	9.118	0.36769	0.0:0.1505:0.0:0.8495	.	411	Q6PRD1	GP179_HUMAN	F	411	ENSP00000345060:I411F	ENSP00000345060:I411F	I	-	1	0	GPR179	33745550	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	5.778000	0.68940	0.542000	0.28846	-0.290000	0.09829	ATC		0.542	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			
GRIA2	2891	hgsc.bcm.edu	37	4	158257863	158257863	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr4:158257863G>A	ENST00000264426.9	+	11	2087	c.1808G>A	c.(1807-1809)gGt>gAt	p.G603D	GRIA2_ENST00000296526.7_Missense_Mutation_p.G603D|GRIA2_ENST00000507898.1_Missense_Mutation_p.G556D|GRIA2_ENST00000449365.1_Missense_Mutation_p.G556D|GRIA2_ENST00000393815.2_Missense_Mutation_p.G556D	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	603					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TTTTCCTTGGGTGCCTTTATG	0.413																																																	0													135.0	136.0	136.0					4																	158257863		2203	4300	6503	SO:0001583	missense	2891				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1808G>A	4.37:g.158257863G>A	ENSP00000264426:p.Gly603Asp		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546794	0.86022	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3	5.66	5.66	0.87406	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.84347	0.5452	H	0.95043	3.615	0.80722	D	1	D;D;D	0.89917	0.985;1.0;1.0	P;D;D	0.97110	0.846;1.0;0.999	D	0.88182	0.2871	10	0.87932	D	0	.	20.1041	0.97884	0.0:0.0:1.0:0.0	.	603;603;556	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	D	556;556;603;603;556	ENSP00000426845:G556D;ENSP00000377403:G556D;ENSP00000296526:G603D;ENSP00000264426:G603D;ENSP00000389837:G556D	ENSP00000264426:G603D	G	+	2	0	GRIA2	158477313	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.826000	0.97356	0.655000	0.94253	GGT		0.413	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			
HLTF	6596	hgsc.bcm.edu	37	3	148766680	148766680	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr3:148766680A>T	ENST00000310053.5	-	16	1919	c.1726T>A	c.(1726-1728)Tta>Ata	p.L576I	HLTF_ENST00000465259.1_Missense_Mutation_p.L575I|HLTF_ENST00000392912.2_Missense_Mutation_p.L576I|HLTF_ENST00000494055.1_Missense_Mutation_p.L576I	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	576	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCTGATTCTAAGTCAAGTACA	0.343																																																	0													171.0	157.0	162.0					3																	148766680		2203	4299	6502	SO:0001583	missense	6596			L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.1726T>A	3.37:g.148766680A>T	ENSP00000308944:p.Leu576Ile		D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.334197	0.81801	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000467858	D;D;D;D;D	0.94862	-3.54;-3.54;-3.54;-3.54;-3.54	5.83	3.16	0.36331	DEAD-like helicase (2);SNF2-related (1);	.	.	.	.	D	0.94771	0.8312	L	0.49256	1.55	0.47511	D	0.999442	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.92015	0.5621	9	0.31617	T	0.26	-2.6376	6.6017	0.22705	0.6837:0.0:0.3163:0.0	.	576;576;576	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	I	575;576;576;576;40	ENSP00000420745:L575I;ENSP00000308944:L576I;ENSP00000376644:L576I;ENSP00000420429:L576I;ENSP00000420106:L40I	ENSP00000308944:L576I	L	-	1	2	HLTF	150249370	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.955000	0.40372	1.038000	0.40049	0.528000	0.53228	TTA		0.343	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			
IL16	3603	hgsc.bcm.edu;ucsc.edu	37	15	81582852	81582852	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr15:81582852G>T	ENST00000302987.4	+	10	1391	c.1391G>T	c.(1390-1392)gGa>gTa	p.G464V	IL16_ENST00000394660.2_Missense_Mutation_p.G464V			Q14005	IL16_HUMAN	interleukin 16	464					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ACCAAGTTTGGAAAGGAGAGG	0.408																																																	0													123.0	131.0	128.0					15																	81582852		1909	4127	6036	SO:0001583	missense	3603			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1391G>T	15.37:g.81582852G>T	ENSP00000302935:p.Gly464Val		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002323	0.54254	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987	T;T	0.11063	2.81;2.81	4.89	4.89	0.63831	.	0.000000	0.43579	D	0.000558	T	0.25717	0.0626	M	0.65975	2.015	0.80722	D	1	D;D	0.67145	0.993;0.996	P;D	0.64237	0.84;0.923	T	0.00402	-1.1762	10	0.72032	D	0.01	.	9.051	0.36376	0.1604:0.0:0.8396:0.0	.	464;464	Q14005;Q14005-2	IL16_HUMAN;.	V	464;296;464	ENSP00000378155:G464V;ENSP00000302935:G464V	ENSP00000302935:G464V	G	+	2	0	IL16	79369907	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	1.930000	0.40124	2.537000	0.85549	0.655000	0.94253	GGA		0.408	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1		NM_172217	
IQGAP3	128239	hgsc.bcm.edu;ucsc.edu	37	1	156501004	156501009	+	In_Frame_Del	DEL	TGGAAC	TGGAAC	-			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	TGGAAC	TGGAAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr1:156501004_156501009delTGGAAC	ENST00000361170.2	-	33	4144_4149	c.4134_4139delGTTCCA	c.(4132-4140)cagttccat>cat	p.QF1378del	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1378					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTCCCCAGGATGGAACTGTATGATAT	0.597																																																	0																																										SO:0001651	inframe_deletion	128239			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.4134_4139delGTTCCA	1.37:g.156501004_156501009delTGGAAC	ENSP00000354451:p.Gln1378_Phe1379del		Q5T3H8	In_Frame_Del	DEL	ENST00000361170.2	37	CCDS1144.1																																																																																				0.597	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1		NM_178229	
ITGAX	3687	hgsc.bcm.edu	37	16	31373161	31373161	+	Silent	SNP	G	G	T			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr16:31373161G>T	ENST00000268296.4	+	10	1138	c.1017G>T	c.(1015-1017)acG>acT	p.T339T	ITGAX_ENST00000562522.1_Silent_p.T339T	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	339	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.T339T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCCCAGGTACGGAGACCACAA	0.577																																																	2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)											134.0	114.0	121.0					16																	31373161		2197	4300	6497	SO:0001819	synonymous_variant	3687			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1017G>T	16.37:g.31373161G>T			Q8IVA6	Silent	SNP	ENST00000268296.4	37	CCDS10711.1																																																																																				0.577	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2		NM_000887	
KDM5C	8242	hgsc.bcm.edu;ucsc.edu	37	X	53228214	53228214	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chrX:53228214A>G	ENST00000375401.3	-	15	2720	c.2188T>C	c.(2188-2190)Tgc>Cgc	p.C730R	KDM5C_ENST00000404049.3_Missense_Mutation_p.C729R|KDM5C_ENST00000465402.1_5'Flank|KDM5C_ENST00000452825.3_Missense_Mutation_p.C663R|KDM5C_ENST00000375383.3_Missense_Mutation_p.C689R|KDM5C_ENST00000375379.3_Missense_Mutation_p.C730R	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	730					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TGGGAAAGGCAGACAAGGCCG	0.567			"""N, F, S"""		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													144.0	109.0	121.0					X																	53228214		2203	4300	6503	SO:0001583	missense	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.2188T>C	X.37:g.53228214A>G	ENSP00000364550:p.Cys730Arg		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	a	21.7	4.194712	0.78902	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D;D	0.99791	-6.76;-6.76;-6.76;-6.76;-6.76	4.69	4.69	0.59074	Zinc finger, C5HC2-type (1);	0.000000	0.85682	D	0.000000	D	0.99782	0.9909	M	0.92738	3.34	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.76071	0.978;0.987;0.987	D	0.97320	0.9943	10	0.87932	D	0	-4.307	11.2689	0.49127	1.0:0.0:0.0:0.0	.	663;729;730	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	R	663;730;729;730;689	ENSP00000445176:C663R;ENSP00000364550:C730R;ENSP00000385394:C729R;ENSP00000364528:C730R;ENSP00000364532:C689R	ENSP00000364528:C730R	C	-	1	0	KDM5C	53244939	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.213000	0.95133	1.556000	0.49512	0.422000	0.28245	TGC		0.567	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2		NM_004187	
LAMA3	3909	hgsc.bcm.edu;ucsc.edu	37	18	21406683	21406683	+	Silent	SNP	C	C	A			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr18:21406683C>A	ENST00000313654.9	+	22	2830	c.2589C>A	c.(2587-2589)ctC>ctA	p.L863L	LAMA3_ENST00000399516.3_Silent_p.L863L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	863	Domain IV 1 (domain IV B).				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TGGTGCTGCTCCCCAGGGACT	0.453																																																	0													41.0	42.0	42.0					18																	21406683		1896	4119	6015	SO:0001819	synonymous_variant	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.2589C>A	18.37:g.21406683C>A			B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	CCDS42419.1																																																																																				0.453	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3		NM_000227, NM_198129	
LAMA3	3909	hgsc.bcm.edu	37	18	21470048	21470048	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr18:21470048G>C	ENST00000313654.9	+	42	5618	c.5377G>C	c.(5377-5379)Ggc>Cgc	p.G1793R	LAMA3_ENST00000399516.3_Missense_Mutation_p.G1793R|LAMA3_ENST00000269217.6_Missense_Mutation_p.G184R|LAMA3_ENST00000587184.1_Missense_Mutation_p.G184R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1793	Domain III A.|Laminin EGF-like 15; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TAACAGCAATGGCCAGCTGGG	0.498																																																	0													98.0	95.0	96.0					18																	21470048		2203	4300	6503	SO:0001583	missense	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.5377G>C	18.37:g.21470048G>C	ENSP00000324532:p.Gly1793Arg		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977526	0.53720	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.23754	1.89;1.93;2.92	5.48	5.48	0.80851	.	.	.	.	.	T	0.52725	0.1752	M	0.69823	2.125	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.997;0.992	T	0.54669	-0.8259	9	0.87932	D	0	.	18.1428	0.89646	0.0:0.0:1.0:0.0	.	184;184;1793;1793	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	R	1793;1793;184	ENSP00000324532:G1793R;ENSP00000382432:G1793R;ENSP00000269217:G184R	ENSP00000269217:G184R	G	+	1	0	LAMA3	19724046	1.000000	0.71417	0.996000	0.52242	0.020000	0.10135	6.141000	0.71744	2.575000	0.86900	0.655000	0.94253	GGC		0.498	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3		NM_000227, NM_198129	
LAS1L	81887	hgsc.bcm.edu	37	X	64744051	64744051	+	Silent	SNP	C	C	A	rs373278066		TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chrX:64744051C>A	ENST00000374811.3	-	10	1225	c.1185G>T	c.(1183-1185)acG>acT	p.T395T	LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Silent_p.T378T|LAS1L_ENST00000374804.5_Silent_p.T336T	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	395					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.T395T(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						ATAGGGCCTGCGTGAAGTTCT	0.572																																																	1	Substitution - coding silent(1)	ovary(1)											44.0	38.0	40.0					X																	64744051		2203	4300	6503	SO:0001819	synonymous_variant	81887			BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1185G>T	X.37:g.64744051C>A			A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Silent	SNP	ENST00000374811.3	37	CCDS14381.1																																																																																				0.572	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1		NM_031206	
CERS4	79603	hgsc.bcm.edu	37	19	8316056	8316056	+	Silent	SNP	C	C	T			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr19:8316056C>T	ENST00000251363.5	+	3	396	c.96C>T	c.(94-96)gtC>gtT	p.V32V	CERS4_ENST00000595722.1_Intron|CERS4_ENST00000559450.1_Silent_p.V32V|CERS4_ENST00000559336.1_Silent_p.V32V|CERS4_ENST00000558331.1_5'UTR	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	32					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.V32V(1)									ATGGCCGTGTCTACCCCCACC	0.597																																																	1	Substitution - coding silent(1)	endometrium(1)											192.0	194.0	194.0					19																	8316056		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"""Homeoboxes / CERS class"""	23747	protein-coding gene	gene with protein product		615334	"""LAG1 longevity assurance homolog 4 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 4"""	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.96C>T	19.37:g.8316056C>T			D6W665	Silent	SNP	ENST00000251363.5	37	CCDS12197.1																																																																																				0.597	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419200.1		NM_024552	
LIN7A	8825	hgsc.bcm.edu	37	12	81239680	81239680	+	Silent	SNP	G	G	C			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr12:81239680G>C	ENST00000552864.1	-	4	514	c.312C>G	c.(310-312)tcC>tcG	p.S104S		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	104					exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						CTCGAGGGTGGGAGTGGCCTT	0.403																																																	0													51.0	50.0	50.0					12																	81239680		2203	4300	6503	SO:0001819	synonymous_variant	8825			AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"""mammalian LIN-7 1"""	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.312C>G	12.37:g.81239680G>C			A4FTY3|Q147W1|Q6LES3|Q7LDS4	Silent	SNP	ENST00000552864.1	37	CCDS9021.1	.	.	.	.	.	.	.	.	.	.	G	0.424	-0.906775	0.02434	.	.	ENSG00000111052	ENST00000552093	.	.	.	5.27	2.42	0.29668	.	.	.	.	.	T	0.43255	0.1239	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26467	-1.0102	4	.	.	.	-5.7752	1.4165	0.02302	0.294:0.1272:0.4312:0.1476	.	.	.	.	R	70	.	.	P	-	2	0	LIN7A	79763811	0.989000	0.36119	1.000000	0.80357	0.126000	0.20510	0.213000	0.17521	0.296000	0.22592	-0.150000	0.13652	CCC		0.403	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407760.1			
MICAL3	57553	hgsc.bcm.edu;ucsc.edu	37	22	18362165	18362165	+	Intron	SNP	A	A	G			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr22:18362165A>G	ENST00000441493.2	-	16	2594				MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000429452.1_Missense_Mutation_p.Y782H|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000585038.1_Missense_Mutation_p.Y782H	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3						actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGATCCCTGTATGTCTGTTGG	0.493																																																	0													149.0	125.0	133.0					22																	18362165		1568	3582	5150	SO:0001627	intron_variant	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2241+6478T>C	22.37:g.18362165A>G			B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	A	9.493	1.101083	0.20552	.	.	ENSG00000093100	ENST00000429452	T	0.67345	-0.26	5.45	3.32	0.38043	.	.	.	.	.	T	0.44030	0.1274	.	.	.	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.25916	-1.0118	8	0.15066	T	0.55	.	4.9877	0.14198	0.7186:0.0:0.1476:0.1338	.	782	B2RXJ5	.	H	782	ENSP00000414846:Y782H	ENSP00000414846:Y782H	Y	-	1	0	XXbac-B461K10.4	16742165	0.000000	0.05858	0.545000	0.28153	0.998000	0.95712	0.247000	0.18179	0.441000	0.26529	0.533000	0.62120	TAC		0.493	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			
XKR6	286046	hgsc.bcm.edu;ucsc.edu	37	8	10892793	10892793	+	Intron	SNP	C	C	A			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr8:10892793C>A	ENST00000416569.2	-	2	791				MIR598_ENST00000384868.1_RNA	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6							integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TCACCGCCAGCATCAGCAGCA	0.562																																																	0													148.0	131.0	136.0					8																	10892793		1568	3582	5150	SO:0001627	intron_variant	693183			BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.765-110453G>T	8.37:g.10892793C>A			Q8TBA0	RNA	SNP	ENST00000416569.2	37	CCDS5978.2																																																																																				0.562	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1		NM_173683	
MOV10	4343	hgsc.bcm.edu	37	1	113234325	113234325	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr1:113234325G>C	ENST00000413052.2	+	6	1265	c.875G>C	c.(874-876)gGg>gCg	p.G292A	MOV10_ENST00000357443.2_Missense_Mutation_p.G292A|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369644.1_Missense_Mutation_p.G236A|MOV10_ENST00000369645.1_Missense_Mutation_p.G292A|MOV10_ENST00000468624.1_3'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	292					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		ATGGCGCTGGGGACATACTAC	0.542																																																	0													132.0	131.0	132.0					1																	113234325		2203	4300	6503	SO:0001583	missense	4343			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.875G>C	1.37:g.113234325G>C	ENSP00000399797:p.Gly292Ala		Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	CCDS853.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805140	0.50315	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000285733;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.91843	-2.92;-2.92;-2.9;-2.92	5.01	1.95	0.26073	.	0.548640	0.22301	N	0.061861	T	0.68118	0.2966	L	0.29908	0.895	0.80722	D	1	B;P;B	0.35872	0.124;0.525;0.124	B;B;B	0.30401	0.08;0.115;0.054	T	0.67635	-0.5620	10	0.08179	T	0.78	-14.3719	4.7307	0.12962	0.1923:0.1792:0.6285:0.0	.	236;292;292	Q5JR04;Q9H8T8;Q9HCE1	.;.;MOV10_HUMAN	A	292;292;292;236;292;230	ENSP00000399797:G292A;ENSP00000358659:G292A;ENSP00000358658:G236A;ENSP00000350028:G292A	ENSP00000285733:G292A	G	+	2	0	MOV10	113035848	0.940000	0.31905	0.998000	0.56505	0.996000	0.88848	1.239000	0.32719	0.829000	0.34733	0.561000	0.74099	GGG		0.542	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1		NM_020963	
NOTCH1	4851	hgsc.bcm.edu	37	9	139409100	139409100	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr9:139409100C>A	ENST00000277541.6	-	13	2144	c.2069G>T	c.(2068-2070)gGg>gTg	p.G690V		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	690	EGF-like 18; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCAGGTGCCCCCGTTGTGGCA	0.642			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0													33.0	44.0	40.0					9																	139409100		2136	4243	6379	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2069G>T	9.37:g.139409100C>A	ENSP00000277541:p.Gly690Val		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522911	0.64747	.	.	ENSG00000148400	ENST00000277541	D	0.96587	-4.06	5.45	5.45	0.79879	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99093	0.9688	H	0.99273	4.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98985	1.0806	10	0.72032	D	0.01	.	18.2788	0.90092	0.0:1.0:0.0:0.0	.	690	P46531	NOTC1_HUMAN	V	690	ENSP00000277541:G690V	ENSP00000277541:G690V	G	-	2	0	NOTCH1	138528921	1.000000	0.71417	0.844000	0.33320	0.003000	0.03518	7.633000	0.83260	2.565000	0.86533	0.655000	0.94253	GGG		0.642	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1		NM_017617	
OLFML2B	25903	hgsc.bcm.edu	37	1	161993198	161993198	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr1:161993198A>T	ENST00000294794.3	-	1	446	c.23T>A	c.(22-24)gTt>gAt	p.V8D	OLFML2B_ENST00000367940.2_Missense_Mutation_p.V8D	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	8					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GAAGTAGAGAACTAGCAGCCG	0.627																																																	0													53.0	54.0	54.0					1																	161993198		2203	4300	6503	SO:0001583	missense	25903			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.23T>A	1.37:g.161993198A>T	ENSP00000294794:p.Val8Asp		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.746631	0.30955	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.88896	-2.44;-2.44	4.85	-0.177	0.13307	.	.	.	.	.	T	0.66086	0.2754	N	0.24115	0.695	0.29200	N	0.875263	B;B	0.23650	0.089;0.089	B;B	0.18871	0.023;0.023	T	0.50083	-0.8869	8	0.87932	D	0	.	7.1834	0.25786	0.5626:0.0:0.4374:0.0	.	8;8	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	D	8	ENSP00000294794:V8D;ENSP00000356917:V8D	ENSP00000294794:V8D	V	-	2	0	OLFML2B	160259822	0.000000	0.05858	0.008000	0.14137	0.537000	0.34900	0.254000	0.18314	0.041000	0.15688	-0.379000	0.06801	GTT		0.627	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2		NM_015441	
OR10W1	81341	hgsc.bcm.edu;ucsc.edu	37	11	58035202	58035202	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr11:58035202T>G	ENST00000395079.2	-	1	530	c.129A>C	c.(127-129)gaA>gaC	p.E43D		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				ATAGACAGGTTTCTGTGTGAA	0.493																																																	0													102.0	86.0	92.0					11																	58035202		2201	4295	6496	SO:0001583	missense	81341			AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"""GPCR / Class A : Olfactory receptors"""	15139	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily W, member 1 pseudogene"""	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.129A>C	11.37:g.58035202T>G	ENSP00000378516:p.Glu43Asp		A2RUD2|A8MTE1|Q6UXQ2	Missense_Mutation	SNP	ENST00000395079.2	37	CCDS7968.1	.	.	.	.	.	.	.	.	.	.	T	3.214	-0.160993	0.06502	.	.	ENSG00000172772	ENST00000395079	T	0.00588	6.37	5.76	-1.01	0.10169	GPCR, rhodopsin-like superfamily (1);	0.122706	0.37012	N	0.002285	T	0.00144	0.0004	N	0.00465	-1.465	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.45101	-0.9284	10	0.02654	T	1	.	0.6511	0.00826	0.4015:0.1386:0.2127:0.2473	.	43	Q8NGF6	O10W1_HUMAN	D	43	ENSP00000378516:E43D	ENSP00000378516:E43D	E	-	3	2	OR10W1	57791778	0.000000	0.05858	0.010000	0.14722	0.222000	0.24845	-1.538000	0.02204	0.093000	0.17368	0.533000	0.62120	GAA		0.493	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1		NM_207374	
PAK3	5063	hgsc.bcm.edu;ucsc.edu	37	X	110366370	110366370	+	Silent	SNP	T	T	C			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chrX:110366370T>C	ENST00000372010.1	+	5	481	c.39T>C	c.(37-39)gcT>gcC	p.A13A	PAK3_ENST00000262836.4_Silent_p.A13A|PAK3_ENST00000360648.4_Silent_p.A13A|PAK3_ENST00000446737.1_Silent_p.A13A|PAK3_ENST00000417227.1_Silent_p.A13A|PAK3_ENST00000518291.1_Silent_p.A13A|PAK3_ENST00000425146.1_Silent_p.A13A|PAK3_ENST00000519681.1_Silent_p.A13A|PAK3_ENST00000372007.5_Silent_p.A13A			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	13					activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AACCCCCGGCTCCTCCACTGA	0.458										TSP Lung(19;0.15)																																							0													113.0	115.0	115.0					X																	110366370		2203	4300	6503	SO:0001819	synonymous_variant	5063			AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.39T>C	X.37:g.110366370T>C			A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Silent	SNP	ENST00000372010.1	37	CCDS48153.1																																																																																				0.458	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1		NM_002578	
PARP9	83666	hgsc.bcm.edu	37	3	122277192	122277192	+	Silent	SNP	G	G	T			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr3:122277192G>T	ENST00000360356.2	-	3	365	c.138C>A	c.(136-138)ctC>ctA	p.L46L	PARP9_ENST00000462315.1_Intron|PARP9_ENST00000477522.2_Intron|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Intron	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	46					cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		ACTTGTAGGGGAGACATTCTT	0.502																																																	0													126.0	110.0	116.0					3																	122277192		2203	4300	6503	SO:0001819	synonymous_variant	83666			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.138C>A	3.37:g.122277192G>T			A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Silent	SNP	ENST00000360356.2	37	CCDS3014.1																																																																																				0.502	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1		NM_031458	
PLAGL2	5326	hgsc.bcm.edu	37	20	30785078	30785078	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr20:30785078T>A	ENST00000246229.4	-	3	932	c.668A>T	c.(667-669)tAc>tTc	p.Y223F		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	223					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTGGGCACAGTACTGGCACAG	0.587																																					Colon(163;15 1893 11280 16306 47518)												0													65.0	44.0	51.0					20																	30785078		2203	4300	6503	SO:0001583	missense	5326				CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"""Zinc fingers, C2H2-type"""	9047	protein-coding gene	gene with protein product	"""C2H2-type zinc finger protein"""	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.668A>T	20.37:g.30785078T>A	ENSP00000246229:p.Tyr223Phe		A8K8T5|E1P5M3|Q92584	Missense_Mutation	SNP	ENST00000246229.4	37	CCDS13197.1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.092641	0.36952	.	.	ENSG00000126003	ENST00000246229	T	0.77229	-1.08	5.24	5.24	0.73138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.68879	0.3049	N	0.12637	0.245	0.52501	D	0.999958	P	0.44816	0.844	P	0.50825	0.651	T	0.65533	-0.6145	10	0.09590	T	0.72	.	15.3068	0.73998	0.0:0.0:0.0:1.0	.	223	Q9UPG8	PLAL2_HUMAN	F	223	ENSP00000246229:Y223F	ENSP00000246229:Y223F	Y	-	2	0	PLAGL2	30248739	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.977000	0.70492	2.208000	0.71279	0.454000	0.30748	TAC		0.587	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2		NM_002657	
NPY4R	5540	hgsc.bcm.edu	37	10	47087499	47087499	+	Missense_Mutation	SNP	G	G	A	rs114592738	byFrequency	TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr10:47087499G>A	ENST00000395716.1	+	2	801	c.716G>A	c.(715-717)cGg>cAg	p.R239Q	NPY4R_ENST00000374312.1_Missense_Mutation_p.R239Q			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	239					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										CGCATCTACCGGCGCCTGCAG	0.602													G|||	23	0.00459265	0.0	0.0043	5008	,	,		38761	0.0		0.0189	False		,,,				2504	0.001																0								G	GLN/ARG	13,4393	16.8+/-37.8	0,13,2190	159.0	133.0	142.0		716	-10.2	0.3	10	dbSNP_132	142	107,8493	50.2+/-110.2	0,107,4193	yes	missense	PPYR1	NM_005972.4	43	0,120,6383	AA,AG,GG		1.2442,0.2951,0.9227	benign	239/376	47087499	120,12886	2203	4300	6503	SO:0001583	missense	5540				CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.716G>A	10.37:g.47087499G>A	ENSP00000379066:p.Arg239Gln		Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	CCDS31193.1	21	0.009615384615384616	0	0.0	2	0.0055248618784530384	0	0.0	19	0.025065963060686015	G	10.59	1.393817	0.25205	0.002951	0.012442	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.39406	1.08;1.08	5.12	-10.2	0.00374	GPCR, rhodopsin-like superfamily (1);	0.677075	0.13815	N	0.360857	T	0.09642	0.0237	L	0.52573	1.65	0.20403	N	0.999903	B	0.13145	0.007	B	0.04013	0.001	T	0.02313	-1.1178	10	0.27082	T	0.32	.	8.8171	0.35002	0.1124:0.0:0.349:0.5386	.	239	P50391	NPY4R_HUMAN	Q	239	ENSP00000363431:R239Q;ENSP00000379066:R239Q	ENSP00000363431:R239Q	R	+	2	0	PPYR1	46507505	0.003000	0.15002	0.284000	0.24805	0.623000	0.37688	-0.538000	0.06120	-2.737000	0.00381	-0.241000	0.12123	CGG		0.602	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			
PRB1	5542	hgsc.bcm.edu	37	12	11506473	11506473	+	Intron	SNP	C	C	G	rs61930109	byFrequency	TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr12:11506473C>G	ENST00000500254.2	-	4	351				PRB1_ENST00000546254.1_Intron|PRB1_ENST00000545626.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCTGAGGTTTCTTGCCTCCTT	0.597													N|||	2853	0.569688	0.4743	0.5922	5008	,	,		7205	0.753		0.6292	False		,,,				2504	0.4325																0													8.0	6.0	7.0					12																	11506473		932	1323	2255	SO:0001627	intron_variant	5542				CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.314-149G>C	12.37:g.11506473C>G			Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	ENST00000500254.2	37	CCDS8642.1																																																																																				0.597	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1		NM_005039	
RBM14	10432	hgsc.bcm.edu	37	11	66392256	66392256	+	Silent	SNP	C	C	T			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr11:66392256C>T	ENST00000310137.4	+	2	1048	c.909C>T	c.(907-909)ggC>ggT	p.G303G	RBM14-RBM4_ENST00000511114.1_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000409738.4_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	303	Ala-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CTTCACTCGGCCCATATGGTG	0.627																																																	0													51.0	49.0	50.0					11																	66392256		2200	4295	6495	SO:0001819	synonymous_variant	10432			AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.909C>T	11.37:g.66392256C>T			B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Silent	SNP	ENST00000310137.4	37	CCDS8147.1																																																																																				0.627	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1		NM_006328	
RCL1	10171	hgsc.bcm.edu;ucsc.edu	37	9	4849485	4849485	+	Silent	SNP	A	A	G			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr9:4849485A>G	ENST00000381750.4	+	8	1129	c.906A>G	c.(904-906)ctA>ctG	p.L302L	MIR101-2_ENST00000362195.2_RNA|RCL1_ENST00000381730.1_Silent_p.L116L|RCL1_ENST00000381728.1_Silent_p.L116L|RP11-125K10.5_ENST00000443970.1_RNA|RCL1_ENST00000448872.2_Silent_p.L116L	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	302					ribosome biogenesis (GO:0042254)|RNA processing (GO:0006396)	nucleolus (GO:0005730)	catalytic activity (GO:0003824)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		GCCTGGCGCTACTACTCATGA	0.453																																																	0													148.0	123.0	132.0					9																	4849485		2203	4300	6503	SO:0001819	synonymous_variant	10171			AJ276894	CCDS6456.1, CCDS69565.1, CCDS75810.1	9p24.1-p23	2008-02-05			ENSG00000120158	ENSG00000120158			17687	protein-coding gene	gene with protein product		611405					Standard	NM_001286701		Approved	RPCL1, RNAC	uc003zis.2	Q9Y2P8	OTTHUMG00000019474	ENST00000381750.4:c.906A>G	9.37:g.4849485A>G			D3DRI2|Q5VYW9|Q5VZU1|Q9H9D0|Q9NY00|Q9P044	Silent	SNP	ENST00000381750.4	37	CCDS6456.1																																																																																				0.453	RCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051587.1		NM_005772	
LTN1	26046	hgsc.bcm.edu	37	21	30331797	30331797	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr21:30331797T>G	ENST00000361371.5	-	13	2655	c.2576A>C	c.(2575-2577)gAa>gCa	p.E859A	LTN1_ENST00000389194.2_Missense_Mutation_p.E905A			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	859					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ATGTGTTTTTTCTTTGCTCTG	0.403																																																	0													98.0	101.0	100.0					21																	30331797		2203	4300	6503	SO:0001583	missense	0			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.2576A>C	21.37:g.30331797T>G	ENSP00000354977:p.Glu859Ala		A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37		.	.	.	.	.	.	.	.	.	.	T	10.99	1.508078	0.27036	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.18174	2.23;2.24	5.55	4.38	0.52667	.	0.338803	0.32868	N	0.005545	T	0.10035	0.0246	N	0.19112	0.55	0.30949	N	0.724976	B	0.02656	0.0	B	0.04013	0.001	T	0.15838	-1.0423	10	0.20519	T	0.43	.	8.6741	0.34167	0.0:0.0679:0.1299:0.8021	.	859	O94822	LTN1_HUMAN	A	905;859	ENSP00000373846:E905A;ENSP00000354977:E859A	ENSP00000354977:E859A	E	-	2	0	LTN1	29253668	0.988000	0.35896	0.996000	0.52242	0.999000	0.98932	2.007000	0.40883	1.087000	0.41251	0.533000	0.62120	GAA		0.403	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1		NM_015565	
RPS27A	6233	hgsc.bcm.edu;ucsc.edu	37	2	55462091	55462091	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr2:55462091A>T	ENST00000272317.6	+	5	638	c.314A>T	c.(313-315)tAt>tTt	p.Y105F	RPS27A_ENST00000404735.1_Missense_Mutation_p.Y105F|CLHC1_ENST00000407122.1_5'Flank|CLHC1_ENST00000406076.1_5'Flank|CLHC1_ENST00000401408.1_5'Flank|CLHC1_ENST00000406437.2_5'Flank|CLHC1_ENST00000494539.1_5'Flank|RPS27A_ENST00000402285.3_Missense_Mutation_p.Y105F	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	105					activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|small ribosomal subunit (GO:0015935)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|ovary(1)|urinary_tract(1)	3						GTCCTGAAATATTATAAGGTG	0.378																																																	0													44.0	43.0	44.0					2																	55462091		2203	4300	6503	SO:0001583	missense	6233			AB007163	CCDS33202.1	2p16	2011-04-06			ENSG00000143947	ENSG00000143947		"""S ribosomal proteins"""	10417	protein-coding gene	gene with protein product	"""ubiquitin carboxyl extension protein 80"""	191343				9582194	Standard	NM_001135592		Approved	UBCEP80, Uba80, S27A	uc010yow.2	P62979	OTTHUMG00000151919	ENST00000272317.6:c.314A>T	2.37:g.55462091A>T	ENSP00000272317:p.Tyr105Phe		P02248|P02249|P02250|P14798|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BQ77|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000272317.6	37	CCDS33202.1	.	.	.	.	.	.	.	.	.	.	A	16.22	3.061631	0.55432	.	.	ENSG00000143947	ENST00000402285;ENST00000272317;ENST00000449323;ENST00000404735	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.01	5.01	0.66863	Ribosomal protein S27a (1);	0.000000	0.85682	D	0.000000	T	0.68531	0.3011	L	0.33668	1.02	0.80722	D	1	P	0.39404	0.672	P	0.44732	0.459	T	0.64449	-0.6405	10	0.16896	T	0.51	.	14.7212	0.69308	1.0:0.0:0.0:0.0	.	105	P62979	RS27A_HUMAN	F	105	ENSP00000383981:Y105F;ENSP00000272317:Y105F;ENSP00000408482:Y105F;ENSP00000385659:Y105F	ENSP00000272317:Y105F	Y	+	2	0	RPS27A	55315595	1.000000	0.71417	0.987000	0.45799	0.940000	0.58332	8.969000	0.93411	1.882000	0.54519	0.477000	0.44152	TAT		0.378	RPS27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324423.15			
SAMHD1	25939	hgsc.bcm.edu;ucsc.edu	37	20	35547821	35547821	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr20:35547821G>T	ENST00000262878.4	-	7	997	c.798C>A	c.(796-798)tgC>tgA	p.C266*	SAMHD1_ENST00000373694.5_Nonsense_Mutation_p.C51*	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	266	HD.				dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				CCTTTATAAAGCAAATATCTT	0.353																																																	0													123.0	114.0	117.0					20																	35547821		2202	4300	6502	SO:0001587	stop_gained	25939			AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.798C>A	20.37:g.35547821G>T	ENSP00000262878:p.Cys266*		B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Nonsense_Mutation	SNP	ENST00000262878.4	37	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	G	36	5.626674	0.96671	.	.	ENSG00000101347	ENST00000262878;ENST00000373694	.	.	.	5.71	-0.0481	0.13840	.	0.691890	0.15664	N	0.250776	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-0.5118	2.6173	0.04907	0.4125:0.1215:0.3526:0.1133	.	.	.	.	X	266;51	.	ENSP00000262878:C266X	C	-	3	2	SAMHD1	34981235	0.002000	0.14202	0.827000	0.32855	0.992000	0.81027	-0.080000	0.11339	-0.191000	0.10448	0.557000	0.71058	TGC		0.353	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2		NM_015474	
SEPT8	23176	hgsc.bcm.edu;ucsc.edu	37	5	132096903	132096903	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr5:132096903C>A	ENST00000378719.2	-	8	1254	c.1017G>T	c.(1015-1017)agG>agT	p.R339S	SEPT8_ENST00000378699.2_Missense_Mutation_p.R279S|SEPT8_ENST00000481030.1_5'Flank|SEPT8_ENST00000448933.1_Missense_Mutation_p.R279S|SEPT8_ENST00000296873.7_Missense_Mutation_p.R339S|SEPT8_ENST00000378721.4_Missense_Mutation_p.R337S|SEPT8_ENST00000458488.2_Missense_Mutation_p.R339S|SEPT8_ENST00000378701.1_Missense_Mutation_p.R337S|SEPT8_ENST00000378706.1_Missense_Mutation_p.R339S	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	339					cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTCCTCCTTCCTCTGCAGCT	0.527																																																	0													210.0	203.0	205.0					5																	132096903		2042	4203	6245	SO:0001583	missense	23176			AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"""Septins"""	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.1017G>T	5.37:g.132096903C>A	ENSP00000367991:p.Arg339Ser		A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Missense_Mutation	SNP	ENST00000378719.2	37	CCDS43358.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879648	0.51801	.	.	ENSG00000164402	ENST00000378719;ENST00000378721;ENST00000296873;ENST00000448933;ENST00000378706;ENST00000378699;ENST00000378701;ENST00000458488	T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	5.38	5.38	0.77491	.	0.110341	0.56097	D	0.000033	T	0.75488	0.3856	M	0.64676	1.99	0.50632	D	0.999889	B;B;B;B	0.34181	0.236;0.44;0.121;0.44	B;B;B;B	0.24701	0.05;0.05;0.055;0.05	T	0.77286	-0.2644	10	0.59425	D	0.04	.	12.4819	0.55847	0.0:0.9239:0.0:0.0761	.	337;337;339;339	B7ZVZ1;A6NFQ9;F6W7K9;Q92599	.;.;.;SEPT8_HUMAN	S	339;337;339;279;339;279;337;339	ENSP00000367991:R339S;ENSP00000367993:R337S;ENSP00000296873:R339S;ENSP00000399840:R279S;ENSP00000367978:R339S;ENSP00000367971:R279S;ENSP00000367973:R337S;ENSP00000394766:R339S	ENSP00000296873:R339S	R	-	3	2	SEPT8	132124802	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.956000	0.29202	2.528000	0.85240	0.561000	0.74099	AGG		0.527	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2		XM_034872	
SPATA13	221178	hgsc.bcm.edu	37	13	24860482	24860482	+	Missense_Mutation	SNP	G	G	T	rs267603784		TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr13:24860482G>T	ENST00000382095.4	+	5	964	c.557G>T	c.(556-558)tGg>tTg	p.W186L	SPATA13_ENST00000382108.3_Missense_Mutation_p.W811L|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.W689L|SPATA13_ENST00000399949.2_Missense_Mutation_p.W108L|SPATA13_ENST00000409126.1_Missense_Mutation_p.W108L|SPATA13_ENST00000343003.6_Missense_Mutation_p.W130L|SPATA13_ENST00000424834.2_Missense_Mutation_p.W811L	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	186	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.W186*(2)		breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GACTGGTGGTGGGGCCGCAGT	0.582																																																	2	Substitution - Nonsense(2)	skin(2)											69.0	65.0	67.0					13																	24860482		2203	4300	6503	SO:0001583	missense	221178			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.557G>T	13.37:g.24860482G>T	ENSP00000371527:p.Trp186Leu		A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	ENST00000382095.4	37	CCDS9305.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002742	0.93227	.	.	ENSG00000182957	ENST00000382108;ENST00000382095;ENST00000434675;ENST00000438694;ENST00000399949;ENST00000409126;ENST00000343003;ENST00000454083	T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.25	5.25	0.73442	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.52581	0.1743	L	0.31065	0.9	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.996;0.998;0.996;0.996;0.998	D;D;D;D;D;D	0.83275	0.996;0.966;0.994;0.966;0.966;0.98	T	0.43065	-0.9414	10	0.23891	T	0.37	.	17.8523	0.88751	0.0:0.0:1.0:0.0	.	108;130;132;132;108;186	E9PFR9;Q96N96-3;Q96N96-5;Q96N96-4;Q96N96-2;Q96N96	.;.;.;.;.;SPT13_HUMAN	L	811;186;146;132;108;108;130;130	ENSP00000371542:W811L;ENSP00000371527:W186L;ENSP00000401605:W146L;ENSP00000382830:W108L;ENSP00000386471:W108L;ENSP00000343631:W130L;ENSP00000397498:W130L	ENSP00000343631:W130L	W	+	2	0	SPATA13	23758482	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.471000	0.97696	2.462000	0.83206	0.655000	0.94253	TGG		0.582	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2		NM_153023	
SYNE1	23345	hgsc.bcm.edu;ucsc.edu	37	6	152779924	152779924	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr6:152779924G>A	ENST00000367255.5	-	22	3137	c.2536C>T	c.(2536-2538)Caa>Taa	p.Q846*	SYNE1_ENST00000367248.3_Nonsense_Mutation_p.Q836*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q853*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q846*|SYNE1_ENST00000367253.4_Nonsense_Mutation_p.Q846*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q853*|SYNE1_ENST00000495090.2_Nonsense_Mutation_p.Q413*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q853*|SYNE1_ENST00000413186.2_Nonsense_Mutation_p.Q846*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	846					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCACTCGATTGTGCCTCACGC	0.398										HNSCC(10;0.0054)																																							0													123.0	115.0	118.0					6																	152779924		2203	4300	6503	SO:0001587	stop_gained	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2536C>T	6.37:g.152779924G>A	ENSP00000356224:p.Gln846*		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	44	11.115092	0.99518	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	.	.	.	5.34	5.34	0.76211	.	0.000000	0.52532	D	0.000077	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	19.408	0.94656	0.0:0.0:1.0:0.0	.	.	.	.	X	846;853;846;853;853;846;836;846;413	.	ENSP00000265368:Q846X	Q	-	1	0	SYNE1	152821617	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.058000	0.89460	2.643000	0.89663	0.650000	0.86243	CAA		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961	
TACC1	6867	hgsc.bcm.edu;ucsc.edu	37	8	38684806	38684806	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr8:38684806G>A	ENST00000317827.4	+	5	1952	c.1573G>A	c.(1573-1575)Ggt>Agt	p.G525S	TACC1_ENST00000276520.8_Missense_Mutation_p.G115S|TACC1_ENST00000520973.1_Splice_Site_p.G330S|TACC1_ENST00000348567.4_Missense_Mutation_p.G87S|TACC1_ENST00000522752.1_3'UTR|TACC1_ENST00000443286.2_Splice_Site_p.G541S|TACC1_ENST00000518415.1_Splice_Site_p.G480S|TACC1_ENST00000379931.3_Missense_Mutation_p.G537S|TACC1_ENST00000330691.6_Missense_Mutation_p.G99S|TACC1_ENST00000520340.1_Splice_Site_p.G489S|TACC1_ENST00000520611.1_De_novo_Start_OutOfFrame|TACC1_ENST00000520615.1_Missense_Mutation_p.G330S|TACC1_ENST00000519416.1_Missense_Mutation_p.G329S	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	525					cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CGAGGTGAAAGGTGAGCCAGA	0.463																																																	0													234.0	179.0	198.0					8																	38684806		2203	4300	6503	SO:0001583	missense	6867			AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.1573G>A	8.37:g.38684806G>A	ENSP00000321703:p.Gly525Ser		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	ENST00000317827.4	37	CCDS6109.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231508	0.79688	.	.	ENSG00000147526	ENST00000519416;ENST00000520615;ENST00000443388;ENST00000443286;ENST00000518415;ENST00000521642;ENST00000521050;ENST00000522904;ENST00000330691;ENST00000348567;ENST00000317827;ENST00000379931;ENST00000276520;ENST00000520973	T;T;T;T;T;T;T;T;T;T;T	0.47177	2.86;2.9;2.89;2.88;2.43;0.88;0.85;3.05;3.01;0.87;2.76	5.53	5.53	0.82687	.	0.061160	0.64402	D	0.000004	T	0.60971	0.2310	L	0.49350	1.555	0.36582	D	0.873592	D;D;D;D;D;P;B;P;B;P;D	0.89917	1.0;0.996;0.996;1.0;0.999;0.787;0.105;0.753;0.211;0.787;0.991	D;P;P;D;D;B;B;B;B;B;P	0.91635	0.999;0.873;0.873;0.998;0.964;0.322;0.062;0.182;0.04;0.241;0.861	T	0.55724	-0.8096	10	0.08837	T	0.75	-10.5013	18.0095	0.89219	0.0:0.0:1.0:0.0	.	330;330;330;541;537;525;116;115;99;329;480	B7Z3G3;E7EVI4;B4DH49;B4E302;O75410-2;O75410;O75410-5;O75410-6;O75410-4;E7ET87;O75410-7	.;.;.;.;.;TACC1_HUMAN;.;.;.;.;.	S	329;330;330;541;480;87;99;497;99;87;525;537;115;330	ENSP00000428687:G329S;ENSP00000428450:G330S;ENSP00000393647:G541S;ENSP00000428706:G480S;ENSP00000430355:G497S;ENSP00000332794:G99S;ENSP00000327818:G87S;ENSP00000321703:G525S;ENSP00000369263:G537S;ENSP00000276520:G115S;ENSP00000430959:G330S	ENSP00000276520:G115S	G	+	1	0	TACC1	38803963	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.769000	0.85360	2.749000	0.94314	0.655000	0.94253	GGT;GGT;GGT;GGC;GGC;GGT;GGT;GGC;GGT;GGT;GGT;GGT;GGT;GGC		0.463	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1		NM_006283	
TBC1D12	23232	hgsc.bcm.edu	37	10	96281773	96281773	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr10:96281773T>A	ENST00000225235.4	+	10	1933	c.1823T>A	c.(1822-1824)tTt>tAt	p.F608Y	TBC1D12_ENST00000485048.1_Intron	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	608	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				GCAGATGCCTTTATCGCATTT	0.413																																																	0													154.0	140.0	144.0					10																	96281773		1906	4137	6043	SO:0001583	missense	23232			AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.1823T>A	10.37:g.96281773T>A	ENSP00000225235:p.Phe608Tyr		Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Missense_Mutation	SNP	ENST00000225235.4	37	CCDS41553.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.769651	0.90020	.	.	ENSG00000108239	ENST00000225235	T	0.13778	2.56	5.07	5.07	0.68467	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.43188	0.1236	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.50693	-0.8798	10	0.87932	D	0	-13.3492	13.1049	0.59241	0.0:0.0:0.0:1.0	.	608	O60347	TBC12_HUMAN	Y	608	ENSP00000225235:F608Y	ENSP00000225235:F608Y	F	+	2	0	TBC1D12	96271763	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.809000	0.86057	2.254000	0.74563	0.460000	0.39030	TTT		0.413	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			
TMEM161B	153396	hgsc.bcm.edu	37	5	87516401	87516401	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr5:87516401A>G	ENST00000296595.6	-	5	549	c.425T>C	c.(424-426)cTa>cCa	p.L142P	TMEM161B_ENST00000509387.1_Missense_Mutation_p.L15P|TMEM161B_ENST00000512429.1_Missense_Mutation_p.L131P|TMEM161B_ENST00000506536.1_5'UTR|TMEM161B_ENST00000514135.1_Missense_Mutation_p.L142P|TMEM161B_ENST00000511218.1_5'UTR	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	142						integral component of membrane (GO:0016021)				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		CAAAACAAGTAGGCACCAGAC	0.333																																																	0													63.0	70.0	68.0					5																	87516401		2203	4300	6503	SO:0001583	missense	153396			BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.425T>C	5.37:g.87516401A>G	ENSP00000296595:p.Leu142Pro		Q5CZH7|Q6UWQ6	Missense_Mutation	SNP	ENST00000296595.6	37	CCDS4065.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.418039	0.83449	.	.	ENSG00000164180	ENST00000514135;ENST00000296595;ENST00000512429;ENST00000443393;ENST00000509387	.	.	.	5.74	5.74	0.90152	.	0.137235	0.50627	D	0.000106	T	0.72819	0.3508	L	0.55213	1.73	0.80722	D	1	D	0.56287	0.975	P	0.59424	0.857	T	0.74743	-0.3562	9	0.59425	D	0.04	-6.7827	16.0294	0.80567	1.0:0.0:0.0:0.0	.	142	Q8NDZ6	T161B_HUMAN	P	142;142;131;142;15	.	ENSP00000296595:L142P	L	-	2	0	TMEM161B	87552157	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.962000	0.93254	2.190000	0.69967	0.477000	0.44152	CTA		0.333	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1		NM_153354	
TTLL2	83887	hgsc.bcm.edu	37	6	167753863	167753863	+	Silent	SNP	T	T	C	rs146650729	byFrequency	TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr6:167753863T>C	ENST00000239587.5	+	3	563	c.475T>C	c.(475-477)Ttg>Ctg	p.L159L		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	159	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GAAAGACTGTTTGGCCAAACA	0.507																																																	0													151.0	150.0	150.0					6																	167753863		2203	4300	6503	SO:0001819	synonymous_variant	83887			AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.475T>C	6.37:g.167753863T>C			B2RB11|B3KS77|Q7Z6R8|Q86X22	Silent	SNP	ENST00000239587.5	37	CCDS5301.1																																																																																				0.507	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3		NM_031949	
TTN	7273	hgsc.bcm.edu	37	2	179614187	179614187	+	Intron	SNP	T	T	C			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr2:179614187T>C	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.T4314A			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTCAATAGTCTCAAGGCTT	0.388																																																	0													72.0	75.0	74.0					2																	179614187		2203	4298	6501	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+3663A>G	2.37:g.179614187T>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	11.34	1.609116	0.28623	.	.	ENSG00000155657	ENST00000360870	T	0.58210	0.35	6.17	5.03	0.67393	.	.	.	.	.	T	0.31575	0.0801	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.14980	-1.0453	9	0.20519	T	0.43	.	8.1697	0.31247	0.0:0.1477:0.0:0.8523	.	4314	Q8WZ42-6	.	A	4314	ENSP00000354117:T4314A	ENSP00000354117:T4314A	T	-	1	0	TTN	179322432	0.921000	0.31238	0.940000	0.37924	0.190000	0.23558	1.205000	0.32308	2.371000	0.80710	0.533000	0.62120	ACT		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
USP18	11274	hgsc.bcm.edu	37	22	18640563	18640563	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr22:18640563C>T	ENST00000215794.7	+	2	563	c.133C>T	c.(133-135)Ccc>Tcc	p.P45S		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	45					cytokine-mediated signaling pathway (GO:0019221)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.P45S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						CAGAGAGCGTCCCAGGGCCTG	0.562																																																	1	Substitution - Missense(1)	breast(1)											107.0	106.0	106.0					22																	18640563		2203	4300	6503	SO:0001583	missense	11274			AJ243526	CCDS13752.1	22q11.2	2008-04-11	2005-08-08		ENSG00000184979	ENSG00000184979		"""Ubiquitin-specific peptidases"""	12616	protein-coding gene	gene with protein product		607057	"""ubiquitin specific protease 18"""			12838346	Standard	NM_017414		Approved		uc002zny.3	Q9UMW8	OTTHUMG00000150104	ENST00000215794.7:c.133C>T	22.37:g.18640563C>T	ENSP00000215794:p.Pro45Ser		Q53Y90|Q6IAD9|Q9NY71	Missense_Mutation	SNP	ENST00000215794.7	37	CCDS13752.1	.	.	.	.	.	.	.	.	.	.	.	0.813	-0.751330	0.03041	.	.	ENSG00000184979	ENST00000215794	T	0.06218	3.33	4.61	-1.42	0.08913	.	2.021530	0.01938	N	0.041685	T	0.04452	0.0122	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40136	-0.9579	10	0.21540	T	0.41	.	7.5855	0.27991	0.0:0.4226:0.0:0.5774	.	45	Q9UMW8	UBP18_HUMAN	S	45	ENSP00000215794:P45S	ENSP00000215794:P45S	P	+	1	0	USP18	17020563	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.592000	0.05747	-0.037000	0.13646	0.591000	0.81541	CCC		0.562	USP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316368.1			
WDR49	151790	hgsc.bcm.edu	37	3	167250750	167250750	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr3:167250750T>G	ENST00000308378.3	-	8	1219	c.914A>C	c.(913-915)gAa>gCa	p.E305A	WDR49_ENST00000453925.2_Missense_Mutation_p.E369A|WDR49_ENST00000476376.1_Missense_Mutation_p.E130A|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	305								p.E305A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TAGAACAATTTCTCCATCATA	0.373																																																	1	Substitution - Missense(1)	ovary(1)											110.0	95.0	100.0					3																	167250750		2203	4299	6502	SO:0001583	missense	151790			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.914A>C	3.37:g.167250750T>G	ENSP00000311343:p.Glu305Ala		Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.75|19.75	3.885506|3.885506	0.72410|0.72410	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925|ENST00000472600	T;T;T|.	0.59772|.	0.24;0.24;0.24|.	5.82|5.82	5.82|5.82	0.92795|0.92795	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);|.	0.103264|.	0.64402|.	D|.	0.000004|.	T|T	0.51041|0.51041	0.1651|0.1651	L|L	0.41961|0.41961	1.31|1.31	0.31488|0.31488	N|N	0.666302|0.666302	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.76071|.	0.987;0.987|.	T|T	0.56583|0.56583	-0.7955|-0.7955	10|5	0.36615|.	T|.	0.2|.	.|.	15.1777|15.1777	0.72927|0.72927	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	369;305|.	E7EQK3;Q8IV35|.	.;WDR49_HUMAN|.	A|Q	305;130;369|381	ENSP00000311343:E305A;ENSP00000420508:E130A;ENSP00000410863:E369A|.	ENSP00000311343:E305A|.	E|K	-|-	2|1	0|0	WDR49|WDR49	168733444|168733444	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.877000|0.877000	0.50540|0.50540	5.036000|5.036000	0.64164|0.64164	2.228000|2.228000	0.72767|0.72767	0.460000|0.460000	0.39030|0.39030	GAA|AAA		0.373	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3		NM_178824	
ZC3H6	376940	hgsc.bcm.edu;ucsc.edu	37	2	113060908	113060908	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr2:113060908T>A	ENST00000409871.1	+	3	717	c.316T>A	c.(316-318)Tat>Aat	p.Y106N	ZC3H6_ENST00000343936.4_Missense_Mutation_p.Y106N	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	106							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CTACAGGGATTATGACATTCC	0.328																																																	0													58.0	58.0	58.0					2																	113060908		1825	4086	5911	SO:0001583	missense	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.316T>A	2.37:g.113060908T>A	ENSP00000386764:p.Tyr106Asn		A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.249892	0.39797	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.16743	2.32;2.32	4.63	3.47	0.39725	.	1.093020	0.06859	N	0.798730	T	0.23289	0.0563	M	0.74258	2.255	0.44117	D	0.996892	B	0.33694	0.421	B	0.30495	0.116	T	0.02617	-1.1133	10	0.39692	T	0.17	-5.8792	10.1662	0.42882	0.0:0.0796:0.0:0.9204	.	106	P61129	ZC3H6_HUMAN	N	106;106;83	ENSP00000386764:Y106N;ENSP00000340298:Y106N	ENSP00000340298:Y106N	Y	+	1	0	ZC3H6	112777379	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.193000	0.58385	0.729000	0.32403	0.528000	0.53228	TAT		0.328	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1		NM_198581	
ZMPSTE24	10269	hgsc.bcm.edu;ucsc.edu	37	1	40735725	40735725	+	Silent	SNP	C	C	T			TCGA-B0-4844-01A-01D-1361-10	TCGA-B0-4844-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	18380381-0840-47ff-994c-65319715a6d4	8921941b-fa48-475f-bb96-633d4b44aca0	g.chr1:40735725C>T	ENST00000372759.3	+	5	718	c.553C>T	c.(553-555)Cta>Tta	p.L185L		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	185					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			GTCTTCACTTCTACTTTACAT	0.338																																																	0													186.0	196.0	192.0					1																	40735725		2203	4300	6503	SO:0001819	synonymous_variant	10269			Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"""Hutchinson-Gilford progeria syndrome"", ""CAAX prenyl protease 1 homolog"""	606480	"""zinc metalloproteinase (STE24 homolog, yeast)"", ""zinc metallopeptidase (STE24 homolog, yeast)"", ""zinc metallopeptidase STE24 homolog (S. cerevisiae)"""			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.553C>T	1.37:g.40735725C>T			B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Silent	SNP	ENST00000372759.3	37	CCDS449.1																																																																																				0.338	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015766.1			
