#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ABCA13	154664	hgsc.bcm.edu	37	7	48428725	48428725	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr7:48428725C>A	ENST00000435803.1	+	37	11586	c.11562C>A	c.(11560-11562)caC>caA	p.H3854Q		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3854	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATGAGGGCCACAAGGCTGTGG	0.562																																																	0													70.0	72.0	71.0					7																	48428725		1919	4145	6064	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11562C>A	7.37:g.48428725C>A	ENSP00000411096:p.His3854Gln	Somatic		WXS	SOLID	Phase_I	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	6.516	0.463477	0.12402	.	.	ENSG00000179869	ENST00000435803	D	0.93076	-3.16	4.59	4.59	0.56863	ABC transporter-like (1);	0.513490	0.16367	N	0.217507	D	0.83031	0.5166	N	0.04132	-0.27	0.23192	N	0.998146	B;B	0.27140	0.169;0.158	B;B	0.26864	0.031;0.074	T	0.73116	-0.4084	10	0.33141	T	0.24	.	9.1258	0.36814	0.0:0.897:0.0:0.103	.	1556;3854	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	Q	3854	ENSP00000411096:H3854Q	ENSP00000411096:H3854Q	H	+	3	2	ABCA13	48399271	0.000000	0.05858	0.182000	0.23118	0.277000	0.26821	-0.060000	0.11712	2.254000	0.74563	0.655000	0.94253	CAC		0.562	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		NM_152701	
AMBP	259	hgsc.bcm.edu	37	9	116839007	116839007	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr9:116839007C>A	ENST00000265132.3	-	2	393	c.131G>T	c.(130-132)tGg>tTg	p.W44L		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	44					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CAGGTTGTACCACTTCCCATA	0.597																																																	0													113.0	80.0	91.0					9																	116839007		2203	4300	6503	SO:0001583	missense	259			X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.131G>T	9.37:g.116839007C>A	ENSP00000265132:p.Trp44Leu	Somatic		WXS	SOLID	Phase_I	P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Missense_Mutation	SNP	ENST00000265132.3	37	CCDS6800.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.590052	0.66105	.	.	ENSG00000106927	ENST00000265132	D	0.99552	-6.15	3.86	3.86	0.44501	Lipocalin conserved site (1);Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	D	0.99557	0.9841	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98070	1.0398	10	0.87932	D	0	.	11.1857	0.48655	0.0:1.0:0.0:0.0	.	44	P02760	AMBP_HUMAN	L	44	ENSP00000265132:W44L	ENSP00000265132:W44L	W	-	2	0	AMBP	115878828	1.000000	0.71417	0.975000	0.42487	0.965000	0.64279	4.577000	0.60922	1.994000	0.58287	0.561000	0.74099	TGG		0.597	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2		NM_001633	
ANKRD17	26057	hgsc.bcm.edu;ucsc.edu	37	4	73986632	73986632	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr4:73986632A>G	ENST00000358602.4	-	20	3931	c.3815T>C	c.(3814-3816)cTt>cCt	p.L1272P	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.L1021P|ANKRD17_ENST00000509867.2_Missense_Mutation_p.L1159P	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1272					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTTCTATCAAGCAGAAGACT	0.373																																																	0													118.0	109.0	112.0					4																	73986632		2203	4300	6503	SO:0001583	missense	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.3815T>C	4.37:g.73986632A>G	ENSP00000351416:p.Leu1272Pro	Somatic		WXS	SOLID	Phase_I	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.486837	0.84854	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.19806	2.12;2.12;2.12	5.88	5.88	0.94601	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000018	T	0.60599	0.2281	H	0.95328	3.655	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.91635	0.997;0.982;0.982;0.99;0.999	T	0.73733	-0.3890	10	0.87932	D	0	.	16.2881	0.82732	1.0:0.0:0.0:0.0	.	793;1271;1021;1272;1159	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	P	1272;1021;1159	ENSP00000351416:L1272P;ENSP00000332265:L1021P;ENSP00000427151:L1159P	ENSP00000332265:L1021P	L	-	2	0	ANKRD17	74205496	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.335000	0.96500	2.227000	0.72691	0.528000	0.53228	CTT		0.373	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1		NM_032217	
ARHGAP25	9938	hgsc.bcm.edu;ucsc.edu	37	2	69034512	69034512	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr2:69034512G>A	ENST00000295381.3	+	5	990	c.571G>A	c.(571-573)Ggc>Agc	p.G191S	ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.G185S|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.G192S|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.G184S|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.G166S|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.G152S|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.G185S	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	191	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.G185C(2)|p.G192C(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CCTGGAGCACGGCCGGAATGA	0.582																																																	4	Substitution - Missense(4)	lung(4)											124.0	110.0	115.0					2																	69034512		2203	4300	6503	SO:0001583	missense	9938			D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.571G>A	2.37:g.69034512G>A	ENSP00000295381:p.Gly191Ser	Somatic		WXS	SOLID	Phase_I	A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37		.	.	.	.	.	.	.	.	.	.	G	27.7	4.859396	0.91433	.	.	ENSG00000163219	ENST00000544262;ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533	T;T;T;T;T;T;T	0.57107	0.42;0.42;2.28;2.28;0.42;2.28;2.28	4.88	4.88	0.63580	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.052772	0.85682	D	0.000000	T	0.79137	0.4395	M	0.92604	3.325	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;0.999	D;D;P;P;P;P;D	0.81914	0.986;0.995;0.88;0.88;0.88;0.864;0.981	D	0.84747	0.0754	10	0.87932	D	0	.	17.1999	0.86903	0.0:0.0:1.0:0.0	.	152;166;192;185;184;185;191	E9PFQ7;B7Z8K7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.;.;.;.;.;.;RHG25_HUMAN	S	166;191;192;152;184;185;185;185;176	ENSP00000439917:G166S;ENSP00000295381:G191S;ENSP00000386911:G192S;ENSP00000420583:G152S;ENSP00000386863:G184S;ENSP00000386241:G185S;ENSP00000417139:G185S	ENSP00000295381:G191S	G	+	1	0	ARHGAP25	68888016	1.000000	0.71417	0.942000	0.38095	0.579000	0.36224	9.374000	0.97172	2.545000	0.85829	0.555000	0.69702	GGC		0.582	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_014882	
BBS2	583	hgsc.bcm.edu;ucsc.edu	37	16	56535332	56535332	+	Silent	SNP	C	C	T	rs199944942		TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr16:56535332C>T	ENST00000245157.5	-	10	1578	c.1158G>A	c.(1156-1158)acG>acA	p.T386T	BBS2_ENST00000561951.1_5'Flank|BBS2_ENST00000568104.1_Silent_p.T386T	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	386					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TGACTGAGAGCGTGGTGTGGA	0.517									Bardet-Biedl syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		16563	0.001		0.0	False		,,,				2504	0.0																0													223.0	198.0	207.0					16																	56535332		2198	4300	6498	SO:0001819	synonymous_variant	583	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1158G>A	16.37:g.56535332C>T		Somatic		WXS	SOLID	Phase_I	Q96CM0|Q96SN9	Silent	SNP	ENST00000245157.5	37	CCDS32451.1																																																																																				0.517	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2		NM_031885	
BCL2L10	10017	hgsc.bcm.edu;ucsc.edu	37	15	52402092	52402092	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr15:52402092A>G	ENST00000561198.1	-	2	679	c.638T>C	c.(637-639)aTg>aCg	p.M213T	BCL2L10_ENST00000260442.3_Missense_Mutation_p.C190R			Q9HD36	B2L10_HUMAN	BCL2-like 10 (apoptosis facilitator)	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|female gamete generation (GO:0007292)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		GTTAACAAGCATGACAGAAAA	0.438																																																	0													133.0	148.0	143.0					15																	52402092		2195	4293	6488	SO:0001583	missense	10017			AF285092	CCDS10148.1	15q21	2007-03-02			ENSG00000137875	ENSG00000137875			993	protein-coding gene	gene with protein product		606910				9829980, 9878060	Standard	NM_020396		Approved	Diva, Boo, BCL-B	uc002abq.3	Q9HD36	OTTHUMG00000131893	ENST00000561198.1:c.638T>C	15.37:g.52402092A>G	ENSP00000453562:p.Met213Thr	Somatic		WXS	SOLID	Phase_I	Q3SX80|Q52LQ9|Q8TCS9	Missense_Mutation	SNP	ENST00000561198.1	37		.	.	.	.	.	.	.	.	.	.	A	3.101	-0.184677	0.06340	.	.	ENSG00000137875	ENST00000260442	T	0.29142	1.58	3.94	1.47	0.22746	.	2.695610	0.01024	N	0.004025	T	0.25121	0.0610	N	0.19112	0.55	0.09310	N	1	P	0.50943	0.94	P	0.44732	0.459	T	0.24584	-1.0156	10	0.25106	T	0.35	-15.0333	8.1833	0.31324	0.5985:0.4015:0.0:0.0	.	180	Q9HD36	B2L10_HUMAN	R	190	ENSP00000260442:C190R	ENSP00000260442:C190R	C	-	1	0	BCL2L10	50189384	0.002000	0.14202	0.000000	0.03702	0.007000	0.05969	1.746000	0.38288	0.289000	0.22422	0.533000	0.62120	TGC		0.438	BCL2L10-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000419386.1			
BNC2	54796	hgsc.bcm.edu;ucsc.edu	37	9	16419303	16419303	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr9:16419303C>G	ENST00000380672.4	-	7	3041	c.2984G>C	c.(2983-2985)gGg>gCg	p.G995A	BNC2_ENST00000380667.2_Missense_Mutation_p.G928A|BNC2_ENST00000545497.1_Missense_Mutation_p.G900A	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GTCACTCGCCCCGTCAATGTC	0.592																																																	0													84.0	80.0	82.0					9																	16419303		2203	4300	6503	SO:0001583	missense	54796			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2984G>C	9.37:g.16419303C>G	ENSP00000370047:p.Gly995Ala	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000380672.4	37	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963156	0.34659	.	.	ENSG00000173068	ENST00000380672;ENST00000380667;ENST00000545497	T;T;T	0.29917	1.55;1.56;1.56	6.08	6.08	0.98989	.	0.152356	0.64402	D	0.000017	T	0.36717	0.0977	L	0.55481	1.735	0.80722	D	1	P;P;P	0.46987	0.827;0.734;0.888	B;B;B	0.44133	0.442;0.321;0.355	T	0.02398	-1.1165	10	0.20046	T	0.44	-18.0841	20.6721	0.99693	0.0:1.0:0.0:0.0	.	900;995;760	F5H586;Q6ZN30;D3DRJ1	.;BNC2_HUMAN;.	A	995;928;900	ENSP00000370047:G995A;ENSP00000370042:G928A;ENSP00000444640:G900A	ENSP00000370042:G928A	G	-	2	0	BNC2	16409303	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.593000	0.54001	2.894000	0.99253	0.591000	0.81541	GGG		0.592	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5		NM_017637	
BRD4	23476	hgsc.bcm.edu	37	19	15364972	15364972	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr19:15364972A>G	ENST00000263377.2	-	11	2370	c.2149T>C	c.(2149-2151)Tcc>Ccc	p.S717P	BRD4_ENST00000371835.4_Missense_Mutation_p.S717P|BRD4_ENST00000360016.5_Missense_Mutation_p.S717P|BRD4_ENST00000602230.1_5'Flank	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	717	Ser-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CCTGTTTCGGAGTCTTCGCTG	0.542			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													77.0	67.0	70.0					19																	15364972		2203	4300	6503	SO:0001583	missense	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.2149T>C	19.37:g.15364972A>G	ENSP00000263377:p.Ser717Pro	Somatic		WXS	SOLID	Phase_I	O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	A	19.48	3.834934	0.71373	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.47177	0.85;0.85;0.85	5.05	5.05	0.67936	.	0.237227	0.30177	N	0.010233	T	0.61937	0.2387	L	0.54323	1.7	0.50171	D	0.999859	D;D;D	0.76494	0.999;0.994;0.997	D;P;D	0.66196	0.942;0.76;0.916	T	0.64313	-0.6437	10	0.59425	D	0.04	-22.4212	14.0967	0.65027	1.0:0.0:0.0:0.0	.	717;717;717	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	P	717	ENSP00000263377:S717P;ENSP00000360901:S717P;ENSP00000353112:S717P	ENSP00000263377:S717P	S	-	1	0	BRD4	15225972	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.861000	0.92277	2.043000	0.60533	0.379000	0.24179	TCC		0.542	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3		NM_058243	
AUNIP	79000	hgsc.bcm.edu	37	1	26162205	26162205	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr1:26162205G>A	ENST00000374298.3	-	3	407	c.353C>T	c.(352-354)cCt>cTt	p.P118L	AUNIP_ENST00000481602.1_Intron|AUNIP_ENST00000538789.1_Missense_Mutation_p.P118L	NM_024037.1	NP_076942.1	Q9H7T9	AUNIP_HUMAN	aurora kinase A and ninein interacting protein	118					spindle organization (GO:0007051)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)											AGTGGCTAAAGGGGATGCCAT	0.483																																																	0													174.0	163.0	167.0					1																	26162205		2203	4300	6503	SO:0001583	missense	0				CCDS266.1, CCDS72731.1	1p36.11	2012-08-07	2012-08-07	2012-08-07	ENSG00000127423	ENSG00000127423			28363	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 135"""	C1orf135		20596670	Standard	NM_001287490		Approved	MGC2603, AIBp	uc001bkw.1	Q9H7T9	OTTHUMG00000007372	ENST00000374298.3:c.353C>T	1.37:g.26162205G>A	ENSP00000363416:p.Pro118Leu	Somatic		WXS	SOLID	Phase_I	C9EI59|Q53F70	Missense_Mutation	SNP	ENST00000374298.3	37	CCDS266.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547982	0.65311	.	.	ENSG00000127423	ENST00000538789;ENST00000374298	T;T	0.56275	0.47;0.47	5.14	5.14	0.70334	.	0.000000	0.50627	D	0.000118	T	0.59945	0.2231	L	0.36672	1.1	0.47778	D	0.999515	D	0.67145	0.996	D	0.63381	0.914	T	0.59332	-0.7474	10	0.49607	T	0.09	-10.7659	13.9704	0.64237	0.0:0.0:1.0:0.0	.	118	Q9H7T9	CA135_HUMAN	L	118	ENSP00000443647:P118L;ENSP00000363416:P118L	ENSP00000363416:P118L	P	-	2	0	C1orf135	26034792	1.000000	0.71417	0.989000	0.46669	0.630000	0.37929	4.235000	0.58666	2.671000	0.90904	0.585000	0.79938	CCT		0.483	AUNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019309.2		NM_024037	
KANSL1L	151050	hgsc.bcm.edu	37	2	210896230	210896230	+	Silent	SNP	A	A	T	rs200159428		TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr2:210896230A>T	ENST00000281772.9	-	9	2333	c.2070T>A	c.(2068-2070)ccT>ccA	p.P690P	KANSL1L_ENST00000418791.1_Intron|RP11-260M2.1_ENST00000608095.1_RNA|AC007038.7_ENST00000452057.1_RNA	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	690						histone acetyltransferase complex (GO:0000123)											GCTTACATATAGGTGAATATC	0.338																																																	0													181.0	177.0	179.0					2																	210896230		2203	4299	6502	SO:0001819	synonymous_variant	0			AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.2070T>A	2.37:g.210896230A>T		Somatic		WXS	SOLID	Phase_I	B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Silent	SNP	ENST00000281772.9	37	CCDS33370.1																																																																																				0.338	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3		NM_152519	
CCDC80	151887	hgsc.bcm.edu;ucsc.edu	37	3	112357865	112357865	+	Silent	SNP	G	G	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr3:112357865G>A	ENST00000206423.3	-	2	1841	c.888C>T	c.(886-888)gaC>gaT	p.D296D	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Silent_p.D296D	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	296					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.D296D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CCCCTCCACCGTCATTCCCCT	0.592																																																	1	Substitution - coding silent(1)	breast(1)											118.0	102.0	108.0					3																	112357865		2203	4300	6503	SO:0001819	synonymous_variant	151887			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.888C>T	3.37:g.112357865G>A		Somatic		WXS	SOLID	Phase_I	D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Silent	SNP	ENST00000206423.3	37	CCDS2968.1																																																																																				0.592	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1		NM_199511	
CDH4	1002	hgsc.bcm.edu	37	20	60348075	60348075	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr20:60348075A>C	ENST00000360469.5	+	4	501	c.413A>C	c.(412-414)aAg>aCg	p.K138T	CDH4_ENST00000543233.1_Missense_Mutation_p.K64T	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	138					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AAAGGAAAGAAGGTCGTGGCT	0.577																																																	0													41.0	41.0	41.0					20																	60348075		2203	4300	6503	SO:0001583	missense	1002			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.413A>C	20.37:g.60348075A>C	ENSP00000353656:p.Lys138Thr	Somatic		WXS	SOLID	Phase_I	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	A	3.653	-0.071136	0.07228	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.56611	0.45;0.47	4.84	-0.373	0.12516	Cadherin-like (1);	0.870561	0.10045	N	0.722955	T	0.25158	0.0611	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16897	-1.0387	9	.	.	.	.	3.3606	0.07185	0.5309:0.2725:0.0726:0.124	.	138	P55283	CADH4_HUMAN	T	138;46;64	ENSP00000353656:K138T;ENSP00000443301:K64T	.	K	+	2	0	CDH4	59781470	0.993000	0.37304	0.007000	0.13788	0.015000	0.08874	2.607000	0.46300	-0.401000	0.07644	0.533000	0.62120	AAG		0.577	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2		NM_001794	
CDK8	1024	hgsc.bcm.edu;ucsc.edu	37	13	26911753	26911753	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr13:26911753T>C	ENST00000381527.3	+	2	681	c.178T>C	c.(178-180)Tct>Cct	p.S60P	CDK8_ENST00000536792.1_Missense_Mutation_p.S60P	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	60	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		AACTGGGATCTCTATGTCGGC	0.299																																																	0													97.0	110.0	105.0					13																	26911753		2203	4292	6495	SO:0001583	missense	1024			X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.178T>C	13.37:g.26911753T>C	ENSP00000370938:p.Ser60Pro	Somatic		WXS	SOLID	Phase_I	Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	37	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.942252	0.73672	.	.	ENSG00000132964	ENST00000381527;ENST00000536792	T;T	0.66995	-0.24;-0.24	5.64	5.64	0.86602	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63212	0.2492	N	0.04820	-0.15	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.972;0.984	T	0.63198	-0.6691	10	0.15952	T	0.53	-12.7518	15.5157	0.75822	0.0:0.0:0.0:1.0	.	60;60	P49336-2;P49336	.;CDK8_HUMAN	P	60	ENSP00000370938:S60P;ENSP00000437696:S60P	ENSP00000370938:S60P	S	+	1	0	CDK8	25809753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.224000	0.78042	2.144000	0.66660	0.460000	0.39030	TCT		0.299	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			
COMMD6	170622	hgsc.bcm.edu	37	13	76101979	76101979	+	Intron	SNP	G	G	A	rs77512031	byFrequency	TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr13:76101979G>A	ENST00000377615.3	-	5	372				COMMD6_ENST00000377619.5_Intron|COMMD6_ENST00000406936.3_Intron|COMMD6_ENST00000460675.1_Intron|COMMD6_ENST00000355801.4_Silent_p.L72L			Q7Z4G1	COMD6_HUMAN	COMM domain containing 6						negative regulation of NF-kappaB transcription factor activity (GO:0032088)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			breast(1)|lung(1)|urinary_tract(1)	3		Breast(118;0.0979)|Prostate(6;0.122)		GBM - Glioblastoma multiforme(99;0.0104)		aggttgccaggagctgaggct	0.408													G|||	97	0.019369	0.003	0.0331	5008	,	,		16772	0.0		0.0626	False		,,,				2504	0.0072																0								G	,	58,4348	55.5+/-91.7	0,58,2145	81.0	82.0	82.0		,216	-0.8	0.0	13	dbSNP_132	82	527,8073	146.2+/-201.8	15,497,3788	no	intron,coding-synonymous	COMMD6	NM_203495.2,NM_203497.2	,	15,555,5933	AA,AG,GG		6.1279,1.3164,4.4979	,	,72/99	76101979	585,12421	2203	4300	6503	SO:0001627	intron_variant	170622			AY542161	CCDS9451.1, CCDS9452.1	13q22	2004-02-18			ENSG00000188243	ENSG00000188243			24015	protein-coding gene	gene with protein product		612377				15799966	Standard	NM_203497		Approved	Acrg	uc001vjn.1	Q7Z4G1	OTTHUMG00000017089	ENST00000377615.3:c.208-1204C>T	13.37:g.76101979G>A		Somatic		WXS	SOLID	Phase_I	A6NF28|B7ZLN0|Q5TBK4	Silent	SNP	ENST00000377615.3	37	CCDS9451.1																																																																																				0.408	COMMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045288.4		XM_085023	
CWH43	80157	hgsc.bcm.edu;ucsc.edu	37	4	49005767	49005767	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr4:49005767C>T	ENST00000226432.4	+	7	1001	c.818C>T	c.(817-819)gCg>gTg	p.A273V	CWH43_ENST00000513409.1_Missense_Mutation_p.A246V	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	273					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCTTCAGCTGCGGGGCTCCTT	0.493																																																	0													77.0	77.0	77.0					4																	49005767		2203	4300	6503	SO:0001583	missense	80157				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.818C>T	4.37:g.49005767C>T	ENSP00000226432:p.Ala273Val	Somatic		WXS	SOLID	Phase_I	B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	C	9.485	1.099198	0.20552	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.46451	1.45;0.87	3.78	-2.58	0.06228	.	0.841053	0.10224	N	0.700536	T	0.28433	0.0703	L	0.35723	1.085	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.24835	-1.0149	9	.	.	.	.	9.3891	0.38361	0.0:0.458:0.0:0.542	.	273	Q9H720	PG2IP_HUMAN	V	273;246	ENSP00000226432:A273V;ENSP00000422802:A246V	.	A	+	2	0	CWH43	48700524	0.008000	0.16893	0.000000	0.03702	0.003000	0.03518	0.195000	0.17155	-0.665000	0.05317	-0.424000	0.05967	GCG		0.493	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2		NM_025087	
DCLRE1A	9937	hgsc.bcm.edu;ucsc.edu	37	10	115609997	115609997	+	Silent	SNP	T	T	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr10:115609997T>A	ENST00000361384.2	-	2	1784	c.867A>T	c.(865-867)ccA>ccT	p.P289P	DCLRE1A_ENST00000369305.1_Silent_p.P289P	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	289					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		AGTCATTTTCTGGCAATGGCA	0.378								Other identified genes with known or suspected DNA repair function																																									0													116.0	111.0	113.0					10																	115609997		2203	4300	6503	SO:0001819	synonymous_variant	9937				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.867A>T	10.37:g.115609997T>A		Somatic		WXS	SOLID	Phase_I	D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Silent	SNP	ENST00000361384.2	37	CCDS7584.1																																																																																				0.378	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1		NM_014881	
DRP2	1821	hgsc.bcm.edu	37	X	100497381	100497381	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chrX:100497381T>A	ENST00000395209.3	+	8	1423	c.896T>A	c.(895-897)cTt>cAt	p.L299H	DRP2_ENST00000402866.1_Missense_Mutation_p.L299H|DRP2_ENST00000538510.1_Missense_Mutation_p.L299H|DRP2_ENST00000541709.1_Missense_Mutation_p.L221H	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	299					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GCCCACCAACTTGCCATTTCT	0.498																																																	0													179.0	165.0	169.0					X																	100497381		2203	4300	6503	SO:0001583	missense	1821			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.896T>A	X.37:g.100497381T>A	ENSP00000378635:p.Leu299His	Somatic		WXS	SOLID	Phase_I	A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	T	20.7	4.035589	0.75617	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.78528	0.4297	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81484	-0.0912	10	0.87932	D	0	-8.831	14.2984	0.66329	0.0:0.0:0.0:1.0	.	299	Q13474	DRP2_HUMAN	H	299;299;221;299	ENSP00000385038:L299H;ENSP00000378635:L299H;ENSP00000444752:L221H;ENSP00000441051:L299H	ENSP00000362007:L299H	L	+	2	0	DRP2	100384037	1.000000	0.71417	0.967000	0.41034	0.856000	0.48823	7.698000	0.84413	1.754000	0.51921	0.481000	0.45027	CTT		0.498	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3		NM_001939	
EPT1	85465	hgsc.bcm.edu;ucsc.edu	37	2	26587766	26587766	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr2:26587766T>A	ENST00000260585.7	+	3	312	c.193T>A	c.(193-195)Ttt>Att	p.F65I		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	65					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)										CGTATTCAATTTTCTGCTAAT	0.308																																																	0													97.0	88.0	91.0					2																	26587766		1807	4061	5868	SO:0001583	missense	85465				CCDS46240.1	2p23.3	2012-03-01			ENSG00000138018	ENSG00000138018	2.7.8.1		29361	protein-coding gene	gene with protein product	"""selenoprotein I"""	607915				11214970, 17132865	Standard	NM_033505		Approved	KIAA1724, SELI, SEPI	uc021veu.1	Q9C0D9	OTTHUMG00000151931	ENST00000260585.7:c.193T>A	2.37:g.26587766T>A	ENSP00000260585:p.Phe65Ile	Somatic		WXS	SOLID	Phase_I	Q63ZE3	Missense_Mutation	SNP	ENST00000260585.7	37	CCDS46240.1	.	.	.	.	.	.	.	.	.	.	T	31	5.101733	0.94245	.	.	ENSG00000138018	ENST00000442141;ENST00000260585;ENST00000447170	T;T	0.39997	1.05;1.05	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.65533	0.2700	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.65483	-0.6157	10	0.34782	T	0.22	-22.7793	15.2725	0.73717	0.0:0.0:0.0:1.0	.	65	Q9C0D9	EPT1_HUMAN	I	33;65;65	ENSP00000415280:F33I;ENSP00000260585:F65I	ENSP00000260585:F65I	F	+	1	0	EPT1	26441270	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.272000	0.78516	2.285000	0.76669	0.533000	0.62120	TTT		0.308	EPT1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000324484.3		NM_033505.2	
FAM83B	222584	hgsc.bcm.edu	37	6	54804856	54804856	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr6:54804856G>T	ENST00000306858.7	+	5	1203	c.1087G>T	c.(1087-1089)Gtt>Ttt	p.V363F		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	363										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ACCTCATTTTGTTCCTAACTT	0.343																																																	0													62.0	61.0	61.0					6																	54804856		2203	4299	6502	SO:0001583	missense	222584			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1087G>T	6.37:g.54804856G>T	ENSP00000304078:p.Val363Phe	Somatic		WXS	SOLID	Phase_I	Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	5.478	0.273252	0.10403	.	.	ENSG00000168143	ENST00000306858	T	0.07216	3.21	5.28	-1.68	0.08212	.	1.333630	0.04776	N	0.428878	T	0.01695	0.0054	L	0.51422	1.61	0.24333	N	0.994991	B	0.22003	0.063	B	0.21917	0.037	T	0.40175	-0.9577	10	0.07482	T	0.82	-1.1156	2.869	0.05610	0.2504:0.2807:0.3734:0.0955	.	363	Q5T0W9	FA83B_HUMAN	F	363	ENSP00000304078:V363F	ENSP00000304078:V363F	V	+	1	0	FAM83B	54912815	0.000000	0.05858	0.904000	0.35570	0.273000	0.26683	-1.277000	0.02812	-0.207000	0.10187	-0.350000	0.07774	GTT		0.343	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1		XM_294139	
FHAD1	114827	hgsc.bcm.edu;ucsc.edu	37	1	15684617	15684617	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr1:15684617A>C	ENST00000375998.4	+	19	2508	c.2508A>C	c.(2506-2508)ttA>ttC	p.L836F	FHAD1_ENST00000375999.3_Missense_Mutation_p.L836F|FHAD1_ENST00000417793.1_Missense_Mutation_p.L800F|FHAD1_ENST00000471347.1_3'UTR|FHAD1_ENST00000314740.8_Missense_Mutation_p.L89F|FHAD1_ENST00000358897.4_Missense_Mutation_p.L836F			B1AJZ9	FHAD1_HUMAN	forkhead-associated (FHA) phosphopeptide binding domain 1	836										skin(1)|stomach(1)	2						AATTAGAATTAAAAGAGCAAA	0.378																																																	0													34.0	32.0	32.0					1																	15684617		692	1591	2283	SO:0001583	missense	114827			AK093300		1p36.21	2012-04-19			ENSG00000142621	ENSG00000142621			29408	protein-coding gene	gene with protein product						11572484	Standard	NM_052929		Approved	KIAA1937	uc001awb.2	B1AJZ9	OTTHUMG00000002088	ENST00000375998.4:c.2508A>C	1.37:g.15684617A>C	ENSP00000365166:p.Leu836Phe	Somatic		WXS	SOLID	Phase_I	Q0P6F5|Q8N8D3|Q8N9T6|Q8NA05	Missense_Mutation	SNP	ENST00000375998.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.881|9.881	1.201673|1.201673	0.22121|0.22121	.|.	.|.	ENSG00000142621|ENSG00000142621	ENST00000358897;ENST00000417793;ENST00000375999;ENST00000375998;ENST00000529606;ENST00000314740;ENST00000314668|ENST00000444385	T;T;T;T;T;T;T|.	0.50001|.	0.76;0.76;0.76;0.76;0.76;0.76;0.76|.	4.97|4.97	-9.28|-9.28	0.00656|0.00656	.|.	.|.	.|.	.|.	.|.	T|.	0.35913|.	0.0948|.	L|L	0.55481|0.55481	1.735|1.735	0.09310|0.09310	N|N	1|1	B;B|.	0.20671|.	0.047;0.016|.	B;B|.	0.20955|.	0.032;0.008|.	T|.	0.43310|.	-0.9399|.	9|.	0.56958|.	D|.	0.05|.	.|.	8.0171|8.0171	0.30387|0.30387	0.1819:0.0:0.5371:0.281|0.1819:0.0:0.5371:0.281	.|.	89;836|.	B7WPP2;B1AJZ9|.	.;FHAD1_HUMAN|.	F|S	836;800;836;836;107;89;71|155	ENSP00000351770:L836F;ENSP00000407615:L800F;ENSP00000365167:L836F;ENSP00000365166:L836F;ENSP00000434909:L107F;ENSP00000322979:L89F;ENSP00000318812:L71F|.	ENSP00000318812:L71F|.	L|X	+|+	3|2	2|2	FHAD1|FHAD1	15557204|15557204	0.009000|0.009000	0.17119|0.17119	0.030000|0.030000	0.17652|0.17652	0.548000|0.548000	0.35241|0.35241	-1.174000|-1.174000	0.03105|0.03105	-1.348000|-1.348000	0.02205|0.02205	0.482000|0.482000	0.46254|0.46254	TTA|TAA		0.378	FHAD1-026	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000393400.2		NM_052929	
FRRS1	391059	hgsc.bcm.edu;ucsc.edu	37	1	100206440	100206440	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr1:100206440A>G	ENST00000414213.1	-	6	1086	c.485T>C	c.(484-486)aTt>aCt	p.I162T	FRRS1_ENST00000287474.5_Missense_Mutation_p.I162T			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	162	Reelin. {ECO:0000255|PROSITE- ProRule:PRU00363}.					integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		TGGTTGTGAAATTATAGGACC	0.398																																																	0													219.0	217.0	217.0					1																	100206440		2203	4300	6503	SO:0001583	missense	391059			AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"""stromal cell derived factor receptor 2 homolog (mouse)"""	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.485T>C	1.37:g.100206440A>G	ENSP00000393884:p.Ile162Thr	Somatic		WXS	SOLID	Phase_I	A6NLN7	Missense_Mutation	SNP	ENST00000414213.1	37		.	.	.	.	.	.	.	.	.	.	A	18.29	3.590694	0.66219	.	.	ENSG00000156869	ENST00000414213;ENST00000287474	.	.	.	5.58	5.58	0.84498	.	0.170585	0.48286	D	0.000198	T	0.56441	0.1985	L	0.52573	1.65	0.58432	D	0.999997	D	0.62365	0.991	P	0.53954	0.738	T	0.62831	-0.6771	9	0.72032	D	0.01	-21.069	15.7486	0.77967	1.0:0.0:0.0:0.0	.	162	Q6ZNA5-2	.	T	162	.	ENSP00000287474:I162T	I	-	2	0	FRRS1	99979028	1.000000	0.71417	0.950000	0.38849	0.520000	0.34377	7.099000	0.76981	2.122000	0.65172	0.533000	0.62120	ATT		0.398	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001013660	
FTMT	94033	hgsc.bcm.edu;ucsc.edu	37	5	121188165	121188165	+	Missense_Mutation	SNP	C	C	A	rs180751758	byFrequency	TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr5:121188165C>A	ENST00000321339.1	+	1	516	c.507C>A	c.(505-507)aaC>aaA	p.N169K		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	169	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TGGAAAAGAACGTGAACCAGT	0.542																																																	0													121.0	112.0	115.0					5																	121188165		2203	4300	6503	SO:0001583	missense	94033			BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.507C>A	5.37:g.121188165C>A	ENSP00000313691:p.Asn169Lys	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000321339.1	37	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347567	0.24426	.	.	ENSG00000181867	ENST00000321339	T	0.61274	0.12	3.53	-6.21	0.02065	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.339756	0.28125	N	0.016502	T	0.40272	0.1110	L	0.43554	1.36	0.34129	D	0.665	B	0.21452	0.056	B	0.22601	0.04	T	0.04242	-1.0966	10	0.36615	T	0.2	.	9.4804	0.38898	0.0:0.6103:0.1465:0.2432	.	169	Q8N4E7	FTMT_HUMAN	K	169	ENSP00000313691:N169K	ENSP00000313691:N169K	N	+	3	2	FTMT	121216064	0.000000	0.05858	0.015000	0.15790	0.956000	0.61745	-2.596000	0.00895	-1.260000	0.02465	-1.480000	0.00990	AAC		0.542	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1		NM_177478	
PSMC5	5705	hgsc.bcm.edu;ucsc.edu	37	17	61903958	61903958	+	5'Flank	SNP	A	A	C			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr17:61903958A>C	ENST00000310144.6	+	0	0				PSMC5_ENST00000581882.1_5'Flank|PSMC5_ENST00000580864.1_5'Flank|PSMC5_ENST00000375812.4_5'Flank|FTSJ3_ENST00000427159.2_Missense_Mutation_p.L48V|FTSJ3_ENST00000580295.1_5'Flank	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						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)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						AGGTCCAGCAAGGCTCGGGCT	0.572																																																	0													53.0	52.0	52.0					17																	61903958		2203	4300	6503	SO:0001631	upstream_gene_variant	117246			L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195			17.37:g.61903958A>C	Exception_encountered	Somatic		WXS	SOLID	Phase_I	A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	ENST00000310144.6	37	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	A	14.36	2.512068	0.44660	.	.	ENSG00000108592	ENST00000427159	T	0.26223	1.75	5.51	2.02	0.26589	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.64402	D	0.000001	T	0.12732	0.0309	N	0.01405	-0.89	0.36943	D	0.892463	P	0.46064	0.872	P	0.56563	0.801	T	0.18777	-1.0326	10	0.07325	T	0.83	-9.1839	7.7128	0.28688	0.6717:0.0:0.3283:0.0	.	48	Q8IY81	RRMJ3_HUMAN	V	48	ENSP00000396673:L48V	ENSP00000396673:L48V	L	-	1	2	FTSJ3	59257690	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.871000	0.28023	0.518000	0.28383	0.459000	0.35465	TTG		0.572	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1		NM_002805	
GPRASP1	9737	hgsc.bcm.edu	37	X	101911560	101911560	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chrX:101911560T>G	ENST00000361600.5	+	5	3520	c.2719T>G	c.(2719-2721)Ttt>Gtt	p.F907V	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.F907V|GPRASP1_ENST00000415986.1_Missense_Mutation_p.F907V|GPRASP1_ENST00000537097.1_Missense_Mutation_p.F907V	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	907	Glu-rich.|OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGAAACCATTTTTGGGTCCTG	0.488																																																	0													90.0	92.0	91.0					X																	101911560		2203	4300	6503	SO:0001583	missense	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2719T>G	X.37:g.101911560T>G	ENSP00000355146:p.Phe907Val	Somatic		WXS	SOLID	Phase_I	O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	T	9.879	1.200989	0.22121	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.09817	2.94;2.94;2.94;2.94	2.43	1.17	0.20885	.	.	.	.	.	T	0.07954	0.0199	L	0.54323	1.7	0.09310	N	1	P	0.39809	0.689	B	0.28553	0.091	T	0.29822	-0.9999	9	0.28530	T	0.3	-5.0532	6.288	0.21043	0.0:0.0:0.5295:0.4705	.	907	Q5JY77	GASP1_HUMAN	V	907	ENSP00000393691:F907V;ENSP00000409420:F907V;ENSP00000355146:F907V;ENSP00000445683:F907V	ENSP00000355146:F907V	F	+	1	0	GPRASP1	101798216	0.000000	0.05858	0.009000	0.14445	0.848000	0.48234	0.190000	0.17057	0.225000	0.20959	0.242000	0.17961	TTT		0.488	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2		NM_014710	
GRIK4	2900	hgsc.bcm.edu;ucsc.edu	37	11	120833224	120833224	+	Silent	SNP	C	C	T			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr11:120833224C>T	ENST00000527524.2	+	18	2387	c.2100C>T	c.(2098-2100)agC>agT	p.S700S	GRIK4_ENST00000438375.2_Silent_p.S700S	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	700					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		AGCAGCCCAGCGTGTTCGTGA	0.502																																																	0													75.0	67.0	69.0					11																	120833224		2203	4299	6502	SO:0001819	synonymous_variant	2900			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.2100C>T	11.37:g.120833224C>T		Somatic		WXS	SOLID	Phase_I	A8K9L1	Silent	SNP	ENST00000527524.2	37	CCDS8433.1																																																																																				0.502	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4		NM_014619	
HAND1	9421	hgsc.bcm.edu	37	5	153857038	153857038	+	Silent	SNP	C	C	G	rs34198899	byFrequency	TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr5:153857038C>G	ENST00000231121.2	-	1	786	c.531G>C	c.(529-531)cgG>cgC	p.R177R		NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	heart and neural crest derivatives expressed 1	177					angiogenesis (GO:0001525)|blastocyst development (GO:0001824)|cardiac left ventricle formation (GO:0003218)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cartilage morphogenesis (GO:0060536)|embryonic heart tube development (GO:0035050)|embryonic heart tube formation (GO:0003144)|heart development (GO:0007507)|heart looping (GO:0001947)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)|trophoblast giant cell differentiation (GO:0060707)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GCTCCCTTTTCCGCTTGCTCT	0.617													C|||	138	0.0275559	0.0015	0.0663	5008	,	,		17868	0.001		0.0596	False		,,,				2504	0.0297																0								C		43,4363	44.6+/-78.6	1,41,2161	78.0	78.0	78.0		531	3.3	1.0	5	dbSNP_126	78	499,8101	143.0+/-199.1	20,459,3821	no	coding-synonymous	HAND1	NM_004821.2		21,500,5982	GG,GC,CC		5.8023,0.9759,4.1673		177/216	153857038	542,12464	2203	4300	6503	SO:0001819	synonymous_variant	9421			AF061756	CCDS4327.1	5q33	2013-05-21			ENSG00000113196	ENSG00000113196		"""Basic helix-loop-helix proteins"""	4807	protein-coding gene	gene with protein product		602406				9337404, 9931445	Standard	NM_004821		Approved	eHand, Thing1, Hxt, bHLHa27	uc003lvn.3	O96004	OTTHUMG00000130193	ENST00000231121.2:c.531G>C	5.37:g.153857038C>G		Somatic		WXS	SOLID	Phase_I		Silent	SNP	ENST00000231121.2	37	CCDS4327.1																																																																																				0.617	HAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252511.1		NM_004821	
HNRNPDL	9987	hgsc.bcm.edu;ucsc.edu	37	4	83347663	83347663	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr4:83347663T>C	ENST00000295470.5	-	6	1320	c.1145A>G	c.(1144-1146)tAt>tGt	p.Y382C	HNRNPDL_ENST00000602300.1_Missense_Mutation_p.Y263C|HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.Y382C|HNRNPDL_ENST00000349655.4_Intron	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	382	Gly-rich.|Necessary for interaction with TNPO1.|Tyr-rich.				regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										CCCATAGTTATACCCAGTATA	0.323																																																	0													120.0	115.0	116.0					4																	83347663		2203	4300	6503	SO:0001583	missense	9987			D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"""RNA binding motif (RRM) containing"""	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.1145A>G	4.37:g.83347663T>C	ENSP00000295470:p.Tyr382Cys	Somatic		WXS	SOLID	Phase_I	Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Missense_Mutation	SNP	ENST00000295470.5	37	CCDS3593.1	.	.	.	.	.	.	.	.	.	.	t	9.067	0.996060	0.19043	.	.	ENSG00000152795	ENST00000295470;ENST00000502762	D;D	0.86230	-2.09;-2.09	5.74	4.53	0.55603	.	0.000000	0.85682	D	0.000000	D	0.84334	0.5449	M	0.63208	1.945	0.80722	D	1	D	0.55172	0.97	B	0.40741	0.339	D	0.83937	0.0309	10	0.51188	T	0.08	.	12.2825	0.54771	0.1272:0.0:0.0:0.8728	.	382	O14979	HNRDL_HUMAN	C	382	ENSP00000295470:Y382C;ENSP00000422040:Y382C	ENSP00000295470:Y382C	Y	-	2	0	HNRPDL	83566687	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.523000	0.67099	1.069000	0.40788	0.459000	0.35465	TAT		0.323	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1		NM_005463	
HYLS1	219844	hgsc.bcm.edu;ucsc.edu	37	11	125769715	125769715	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr11:125769715C>T	ENST00000425380.2	+	3	1233	c.452C>T	c.(451-453)tCa>tTa	p.S151L	PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000526028.1_Missense_Mutation_p.S151L|HYLS1_ENST00000356438.3_Missense_Mutation_p.S151L	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	151						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		TTTGATGTTTCACAAAAATTT	0.393																																					Esophageal Squamous(172;2590 2636 8884 10471)												0													101.0	100.0	101.0					11																	125769715		2201	4299	6500	SO:0001583	missense	219844			AK057477	CCDS8467.1	11q24	2014-06-18				ENSG00000198331			26558	protein-coding gene	gene with protein product		610693				15843405	Standard	NM_145014		Approved	FLJ32915	uc009zbv.3	Q96M11		ENST00000425380.2:c.452C>T	11.37:g.125769715C>T	ENSP00000414884:p.Ser151Leu	Somatic		WXS	SOLID	Phase_I	B3KXI8|Q96BX9	Missense_Mutation	SNP	ENST00000425380.2	37	CCDS8467.1	.	.	.	.	.	.	.	.	.	.	C	9.637	1.138035	0.21123	.	.	ENSG00000198331	ENST00000356438;ENST00000425380;ENST00000526028	T;T;T	0.67698	-0.28;-0.28;-0.28	5.49	5.49	0.81192	.	0.708561	0.12543	N	0.459696	T	0.58481	0.2125	L	0.44542	1.39	0.34592	D	0.715647	B	0.19073	0.033	B	0.17979	0.02	T	0.58561	-0.7615	10	0.27082	T	0.32	.	11.3553	0.49613	0.0:0.9116:0.0:0.0884	.	151	Q96M11	HYLS1_HUMAN	L	151	ENSP00000348815:S151L;ENSP00000414884:S151L;ENSP00000436833:S151L	ENSP00000348815:S151L	S	+	2	0	HYLS1	125274925	0.623000	0.27094	0.731000	0.30826	0.239000	0.25481	2.289000	0.43523	2.865000	0.98341	0.655000	0.94253	TCA		0.393	HYLS1-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386733.1		NM_145014	
IFNGR1	3459	hgsc.bcm.edu;ucsc.edu	37	6	137519571	137519571	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr6:137519571A>C	ENST00000367739.4	-	7	1188	c.1067T>G	c.(1066-1068)gTg>gGg	p.V356G	IFNGR1_ENST00000543628.1_Missense_Mutation_p.V328G	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	356					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TTCAGTAGTCACCACTTCTGT	0.453																																																	0													129.0	126.0	127.0					6																	137519571		2203	4300	6503	SO:0001583	missense	3459				CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.1067T>G	6.37:g.137519571A>C	ENSP00000356713:p.Val356Gly	Somatic		WXS	SOLID	Phase_I	B4DFT7|E1P587|Q53Y96	Missense_Mutation	SNP	ENST00000367739.4	37	CCDS5185.1	.	.	.	.	.	.	.	.	.	.	A	12.17	1.858686	0.32791	.	.	ENSG00000027697	ENST00000367739;ENST00000543628	T;T	0.73469	-0.75;-0.59	6.06	-0.681	0.11342	.	2.049640	0.02149	N	0.057840	T	0.45034	0.1322	L	0.39898	1.24	0.09310	N	1	B;B	0.22683	0.063;0.073	B;B	0.19946	0.027;0.022	T	0.39354	-0.9618	10	0.72032	D	0.01	-0.0011	4.6803	0.12732	0.4724:0.293:0.2345:0.0	.	328;356	F5H5M7;P15260	.;INGR1_HUMAN	G	356;328	ENSP00000356713:V356G;ENSP00000443282:V328G	ENSP00000356713:V356G	V	-	2	0	IFNGR1	137561264	0.000000	0.05858	0.000000	0.03702	0.222000	0.24845	0.255000	0.18333	-0.091000	0.12440	0.533000	0.62120	GTG		0.453	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			
IL15RA	3601	hgsc.bcm.edu	37	10	6001726	6001726	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr10:6001726C>G	ENST00000379977.3	-	5	704	c.607G>C	c.(607-609)Gac>Cac	p.D203H	IL15RA_ENST00000528354.1_Missense_Mutation_p.D170H|IL15RA_ENST00000397248.2_Missense_Mutation_p.D167H|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000530685.1_Missense_Mutation_p.D170H|IL15RA_ENST00000397251.3_Missense_Mutation_p.D138H|IL15RA_ENST00000397250.2_Missense_Mutation_p.D105H|IL15RA_ENST00000525219.2_Missense_Mutation_p.D167H|IL15RA_ENST00000397255.3_Missense_Mutation_p.D203H|IL15RA_ENST00000379971.1_Missense_Mutation_p.D105H			Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	203					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron projection development (GO:0010977)|positive regulation of natural killer cell differentiation (GO:0032825)|response to nutrient levels (GO:0031667)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						CCAGTGGTGTCGCTGTGGCCC	0.582																																																	0													128.0	88.0	102.0					10																	6001726		2203	4300	6503	SO:0001583	missense	3601			U31628	CCDS7074.1, CCDS7075.1, CCDS7075.2, CCDS58069.1, CCDS73065.1	10p15.1	2012-02-27			ENSG00000134470	ENSG00000134470		"""Interleukins and interleukin receptors"", ""CD molecules"""	5978	protein-coding gene	gene with protein product		601070				8530383	Standard	NM_002189		Approved	CD215, IL-15RA	uc021pmo.1	Q13261	OTTHUMG00000017612	ENST00000379977.3:c.607G>C	10.37:g.6001726C>G	ENSP00000369312:p.Asp203His	Somatic		WXS	SOLID	Phase_I	B4E2C2|Q3B769|Q5JVA1|Q5JVA2|Q5JVA4|Q6B0J2|Q7LDR4|Q7Z609	Missense_Mutation	SNP	ENST00000379977.3	37	CCDS7074.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575944	0.28092	.	.	ENSG00000134470	ENST00000397246;ENST00000397251;ENST00000379977;ENST00000397248;ENST00000319465;ENST00000528354;ENST00000397250;ENST00000379971;ENST00000530685;ENST00000397255;ENST00000525219;ENST00000429135	T;T;T;T;T;T;T;T;T	0.45668	1.56;1.56;1.56;1.56;1.56;0.89;1.92;1.56;1.9	3.62	-1.46	0.08800	.	3.884320	0.00664	N	0.000605	T	0.25382	0.0617	N	0.03608	-0.345	0.09310	N	1	D;D;P	0.54772	0.968;0.968;0.833	P;P;B	0.45856	0.495;0.495;0.437	T	0.16012	-1.0417	10	0.44086	T	0.13	-6.0432	7.3632	0.26758	0.0:0.4193:0.0:0.5807	.	170;203;167	Q13261-3;Q13261;E7ETI1	.;I15RA_HUMAN;.	H	167;138;203;167;167;170;105;105;170;203;138;170	ENSP00000380423:D138H;ENSP00000369312:D203H;ENSP00000380421:D167H;ENSP00000435454:D170H;ENSP00000380422:D105H;ENSP00000369306:D105H;ENSP00000435995:D170H;ENSP00000380426:D203H;ENSP00000395113:D170H	ENSP00000322245:D167H	D	-	1	0	IL15RA	6041732	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.220000	0.02971	-0.316000	0.08690	-0.672000	0.03802	GAC		0.582	IL15RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046615.2		NM_172200, NM_002189	
ISCU	23479	hgsc.bcm.edu	37	12	108959179	108959179	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr12:108959179T>C	ENST00000311893.9	+	3	333	c.311T>C	c.(310-312)tTa>tCa	p.L104S	ISCU_ENST00000338291.4_Missense_Mutation_p.L79S|ISCU_ENST00000392807.4_Missense_Mutation_p.L79S|ISCU_ENST00000431221.2_Missense_Mutation_p.L104S|ISCU_ENST00000539593.1_Missense_Mutation_p.L104S|ISCU_ENST00000547005.1_Missense_Mutation_p.L104S|ISCU_ENST00000535729.1_Missense_Mutation_p.L104S	NM_213595.2	NP_998760.1	Q9H1K1	ISCU_HUMAN	iron-sulfur cluster assembly enzyme	104					iron-sulfur cluster assembly (GO:0016226)|nitrogen fixation (GO:0009399)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|iron-sulfur cluster binding (GO:0051536)|protein complex scaffold (GO:0032947)			kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						TCCAGCTCATTAGCCACTGAA	0.383																																																	0													104.0	105.0	105.0					12																	108959179		2203	4300	6503	SO:0001583	missense	23479			U47101	CCDS9118.1, CCDS44966.1, CCDS73518.1	12q24.1	2013-08-05	2013-08-05	2006-10-24	ENSG00000136003	ENSG00000136003			29882	protein-coding gene	gene with protein product		611911	"""NifU-like N-terminal domain containing"", ""IscU iron-sulfur cluster scaffold homolog (E. coli)"", ""iron-sulfur cluster scaffold homolog (E. coli)"""	NIFUN		8875867, 11060020	Standard	XM_005268760		Approved	ISU2, hnifU, IscU	uc010sxc.2	Q9H1K1	OTTHUMG00000168420	ENST00000311893.9:c.311T>C	12.37:g.108959179T>C	ENSP00000310623:p.Leu104Ser	Somatic		WXS	SOLID	Phase_I	Q6P713|Q99617|Q9H1K2	Missense_Mutation	SNP	ENST00000311893.9	37	CCDS44966.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.183481	0.78677	.	.	ENSG00000136003	ENST00000535729;ENST00000431221;ENST00000547005;ENST00000311893;ENST00000392807;ENST00000338291;ENST00000539593	T;T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.53	5.53	0.82687	NIF system FeS cluster assembly, NifU, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91304	0.7258	H	0.95645	3.7	0.37447	D	0.914668	D;D;D;D;D;D	0.71674	0.988;0.997;0.995;0.996;0.969;0.998	D;D;D;D;D;D	0.78314	0.935;0.991;0.974;0.978;0.919;0.989	D	0.95107	0.8235	10	0.87932	D	0	.	14.6302	0.68650	0.0:0.0:0.0:1.0	.	104;104;104;104;79;79	B3KQ30;Q9H1K1;B4DNC9;F5H5N2;B1P7G3;Q9H1K1-2	.;ISCU_HUMAN;.;.;.;.	S	104;104;104;104;79;79;104	ENSP00000445598:L104S;ENSP00000411108:L104S;ENSP00000446606:L104S;ENSP00000310623:L104S;ENSP00000376554:L79S;ENSP00000344584:L79S;ENSP00000443272:L104S	ENSP00000310623:L104S	L	+	2	0	ISCU	107483308	0.992000	0.36948	0.086000	0.20670	0.995000	0.86356	7.334000	0.79224	2.103000	0.63969	0.533000	0.62120	TTA		0.383	ISCU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399693.1		NM_014301	
KCNK9	51305	hgsc.bcm.edu	37	8	140631095	140631095	+	Silent	SNP	G	G	A	rs192943243		TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr8:140631095G>A	ENST00000520439.1	-	2	594	c.531C>T	c.(529-531)gcC>gcT	p.A177A	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Silent_p.A177A	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	177					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	ACTGGGAGAAGGCGGCCGCCC	0.577																																																	0													99.0	93.0	95.0					8																	140631095		2203	4300	6503	SO:0001819	synonymous_variant	51305			AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.531C>T	8.37:g.140631095G>A		Somatic		WXS	SOLID	Phase_I	Q2M290|Q540F2	Silent	SNP	ENST00000520439.1	37	CCDS6377.1																																																																																				0.577	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1		NM_016601	
KRT2	3849	hgsc.bcm.edu	37	12	53039079	53039079	+	Silent	SNP	G	G	T			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr12:53039079G>T	ENST00000309680.3	-	9	1665	c.1644C>A	c.(1642-1644)tcC>tcA	p.S548S		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	548	Tail.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TACCGCCTCTGGAGCCAGACT	0.582																																																	0													114.0	121.0	118.0					12																	53039079		2203	4300	6503	SO:0001819	synonymous_variant	3849				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1644C>A	12.37:g.53039079G>T		Somatic		WXS	SOLID	Phase_I	Q4VAQ2	Silent	SNP	ENST00000309680.3	37	CCDS8835.1																																																																																				0.582	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1		NM_000423	
LRP4	4038	hgsc.bcm.edu	37	11	46914588	46914588	+	Silent	SNP	G	G	T	rs371763360		TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr11:46914588G>T	ENST00000378623.1	-	13	1875	c.1633C>A	c.(1633-1635)Cgg>Agg	p.R545R		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	545					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AACACTTTCCGGTGGGCCCCA	0.582																																																	0													46.0	42.0	44.0					11																	46914588		2201	4299	6500	SO:0001819	synonymous_variant	4038			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1633C>A	11.37:g.46914588G>T		Somatic		WXS	SOLID	Phase_I	B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	CCDS31478.1																																																																																				0.582	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1		NM_002334	
MUC16	94025	hgsc.bcm.edu	37	19	8996451	8996451	+	Silent	SNP	G	G	A	rs77062145		TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr19:8996451G>A	ENST00000397910.4	-	61	41324	c.41121C>T	c.(41119-41121)tgC>tgT	p.C13707C	MUC16_ENST00000380951.5_Silent_p.C348C	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13709	SEA 11. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGGTGGGTGCAGATGGCAT	0.557																																																	0													72.0	68.0	69.0					19																	8996451		1939	4142	6081	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41121C>T	19.37:g.8996451G>A		Somatic		WXS	SOLID	Phase_I	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	4.284	0.051851	0.08291	.	.	ENSG00000181143	ENST00000542240	.	.	.	3.36	-0.114	0.13564	.	.	.	.	.	T	0.31827	0.0809	.	.	.	.	.	.	.	.	.	.	.	.	T	0.39121	-0.9629	3	.	.	.	-20.7794	5.501	0.16829	0.3931:0.0:0.6069:0.0	.	.	.	.	V	547	.	.	A	-	2	0	MUC16	8857451	0.956000	0.32656	0.651000	0.29564	0.022000	0.10575	0.523000	0.22925	0.247000	0.21414	-0.403000	0.06358	GCA		0.557	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690	
NFASC	23114	hgsc.bcm.edu;ucsc.edu	37	1	204957785	204957785	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr1:204957785A>T	ENST00000401399.1	+	22	2817	c.2618A>T	c.(2617-2619)cAg>cTg	p.Q873L	NFASC_ENST00000404076.1_Missense_Mutation_p.Q959L|NFASC_ENST00000338515.6_Missense_Mutation_p.Q980L|NFASC_ENST00000367172.4_Missense_Mutation_p.Q980L|NFASC_ENST00000360049.4_Missense_Mutation_p.Q976L|NFASC_ENST00000513543.1_Missense_Mutation_p.Q976L|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000339876.6_Missense_Mutation_p.Q873L|NFASC_ENST00000539706.1_Missense_Mutation_p.Q976L|NFASC_ENST00000367171.4_Missense_Mutation_p.Q965L|NFASC_ENST00000338586.6_Missense_Mutation_p.Q980L|NFASC_ENST00000367170.4_Missense_Mutation_p.Q980L|NFASC_ENST00000404907.1_Missense_Mutation_p.Q976L|NFASC_ENST00000367169.4_Missense_Mutation_p.Q873L			O94856	NFASC_HUMAN	neurofascin	881	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GTAGGAAAGCAGATAGTGGAA	0.483																																																	0													89.0	82.0	85.0					1																	204957785		2203	4300	6503	SO:0001583	missense	23114			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.2618A>T	1.37:g.204957785A>T	ENSP00000385637:p.Gln873Leu	Somatic		WXS	SOLID	Phase_I	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.24|12.24	1.877745|1.877745	0.33162|0.33162	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393|ENST00000367173;ENST00000425360	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.56275|.	0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47|.	5.38|5.38	1.66|1.66	0.24008|0.24008	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.509962|.	0.16030|.	N|.	0.232940|.	T|.	0.25680|.	0.0625|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999999|0.999999	B;B;B;B;B;B;B;B;B|.	0.11235|.	0.004;0.0;0.0;0.003;0.0;0.003;0.003;0.003;0.001|.	B;B;B;B;B;B;B;B;B|.	0.15870|.	0.014;0.0;0.001;0.004;0.004;0.012;0.001;0.001;0.01|.	T|.	0.20472|.	-1.0274|.	10|.	0.22706|.	T|.	0.39|.	.|.	14.1273|14.1273	0.65230|0.65230	0.297:0.703:0.0:0.0|0.297:0.703:0.0:0.0	.|.	980;991;976;980;980;873;965;873;976|.	O94856;O94856-11;O94856-8;O94856-7;F8W8X7;O94856-4;F8W791;O94856-9;O94856-3|.	NFASC_HUMAN;.;.;.;.;.;.;.;.|.	L|X	980;965;980;980;873;980;991;976;976;873;959;873;976;976;967|843;105	ENSP00000356140:Q980L;ENSP00000356139:Q965L;ENSP00000356138:Q980L;ENSP00000342128:Q980L;ENSP00000344786:Q873L;ENSP00000343509:Q980L;ENSP00000438614:Q976L;ENSP00000353154:Q976L;ENSP00000356137:Q873L;ENSP00000385676:Q959L;ENSP00000385637:Q873L;ENSP00000384061:Q976L;ENSP00000425908:Q976L;ENSP00000415031:Q967L|.	ENSP00000295776:Q991L|.	Q|R	+|+	2|1	0|2	NFASC|NFASC	203224408|203224408	0.983000|0.983000	0.35010|0.35010	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.716000|1.716000	0.37981|0.37981	0.305000|0.305000	0.22832|0.22832	-0.313000|-0.313000	0.08912|0.08912	CAG|AGA		0.483	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1		NM_001005388	
NFATC4	4776	hgsc.bcm.edu	37	14	24842419	24842419	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr14:24842419A>G	ENST00000250373.4	+	4	1543	c.1402A>G	c.(1402-1404)Atc>Gtc	p.I468V	NFATC4_ENST00000422617.3_Missense_Mutation_p.I456V|NFATC4_ENST00000554050.1_Missense_Mutation_p.I468V|NFATC4_ENST00000553708.1_Missense_Mutation_p.I468V|NFATC4_ENST00000554966.1_Missense_Mutation_p.I481V|NFATC4_ENST00000555393.1_5'Flank|NFATC4_ENST00000557767.1_5'Flank|NFATC4_ENST00000555590.1_Missense_Mutation_p.I481V|NFATC4_ENST00000413692.2_Missense_Mutation_p.I531V|NFATC4_ENST00000554661.1_Missense_Mutation_p.I398V|NFATC4_ENST00000556279.1_Missense_Mutation_p.I500V|NFATC4_ENST00000555802.1_5'Flank|NFATC4_ENST00000553879.1_Missense_Mutation_p.I398V|NFATC4_ENST00000556169.1_Missense_Mutation_p.I456V|NFATC4_ENST00000555453.1_Missense_Mutation_p.I456V|NFATC4_ENST00000557451.1_Missense_Mutation_p.I398V|NFATC4_ENST00000555167.1_Missense_Mutation_p.I3V|NFATC4_ENST00000554344.1_Missense_Mutation_p.I398V|NFATC4_ENST00000553469.1_Missense_Mutation_p.I500V|NFATC4_ENST00000424781.2_Missense_Mutation_p.I481V|NFATC4_ENST00000554591.1_Missense_Mutation_p.I531V|NFATC4_ENST00000539237.2_Missense_Mutation_p.I500V|NFATC4_ENST00000554473.1_Missense_Mutation_p.I3V|NFATC4_ENST00000556759.1_Missense_Mutation_p.I3V	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	468	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		ACAGATGTTCATCGGCACTGC	0.552																																																	0													68.0	61.0	64.0					14																	24842419		2203	4300	6503	SO:0001583	missense	4776			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.1402A>G	14.37:g.24842419A>G	ENSP00000250373:p.Ile468Val	Somatic		WXS	SOLID	Phase_I	B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	A	13.23	2.175687	0.38413	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000555167	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	4.96	4.96	0.65561	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.251891	0.39407	N	0.001379	T	0.49321	0.1550	L	0.48362	1.52	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B;B;P;B;B	0.44478	0.194;0.383;0.017;0.383;0.017;0.346;0.383;0.383;0.383;0.383;0.346;0.346;0.836;0.03;0.398	B;B;B;B;B;P;B;B;B;B;P;P;B;B;P	0.52481	0.113;0.159;0.068;0.159;0.042;0.575;0.159;0.159;0.159;0.159;0.575;0.575;0.345;0.068;0.7	T	0.52193	-0.8608	10	0.87932	D	0	0.167	12.6838	0.56936	1.0:0.0:0.0:0.0	.	456;456;500;500;481;481;481;531;531;456;398;500;445;531;468	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-12;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	V	531;531;481;481;481;500;500;500;468;468;468;398;398;398;456;398;456;456;3;3;3	ENSP00000388910:I531V;ENSP00000452039:I531V;ENSP00000451224:I481V;ENSP00000450644:I481V;ENSP00000388668:I481V;ENSP00000439350:I500V;ENSP00000452270:I500V;ENSP00000451502:I500V;ENSP00000451151:I468V;ENSP00000250373:I468V;ENSP00000450590:I468V;ENSP00000452349:I398V;ENSP00000450469:I398V;ENSP00000450733:I398V;ENSP00000451454:I456V;ENSP00000451284:I398V;ENSP00000396788:I456V;ENSP00000450686:I456V;ENSP00000450810:I3V;ENSP00000451183:I3V;ENSP00000451395:I3V	ENSP00000250373:I468V	I	+	1	0	NFATC4	23912259	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.310000	0.78947	2.088000	0.63022	0.529000	0.55759	ATC		0.552	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6		NM_004554	
NISCH	11188	hgsc.bcm.edu	37	3	52504925	52504925	+	Splice_Site	SNP	T	T	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr3:52504925T>A	ENST00000479054.1	+	5	481		c.e5+2		NISCH_ENST00000420808.2_Splice_Site|NISCH_ENST00000488380.1_Splice_Site|NISCH_ENST00000345716.4_Splice_Site			Q9Y2I1	NISCH_HUMAN	nischarin						actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	TTGAGAAAGGTATGTGGCCAC	0.502																																																	0													186.0	170.0	175.0					3																	52504925		2203	4300	6503	SO:0001630	splice_region_variant	11188			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.409+2T>A	3.37:g.52504925T>A		Somatic		WXS	SOLID	Phase_I	C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Splice_Site	SNP	ENST00000479054.1	37	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	T	19.01	3.743389	0.69418	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000488380;ENST00000420808	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2904	0.66273	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NISCH	52479965	1.000000	0.71417	0.909000	0.35828	0.726000	0.41606	6.915000	0.75770	2.122000	0.65172	0.459000	0.35465	.		0.502	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1		NM_007184	Intron
NLRP10	338322	hgsc.bcm.edu	37	11	7981300	7981300	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr11:7981300G>A	ENST00000328600.2	-	2	2020	c.1859C>T	c.(1858-1860)tCt>tTt	p.S620F		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	620					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCCATGGACAGAAGGACATTT	0.393																																																	0													93.0	86.0	89.0					11																	7981300		2201	4295	6496	SO:0001583	missense	338322			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1859C>T	11.37:g.7981300G>A	ENSP00000327763:p.Ser620Phe	Somatic		WXS	SOLID	Phase_I	Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.543940	0.00934	.	.	ENSG00000182261	ENST00000328600	T	0.79940	-1.32	3.25	-6.5	0.01884	.	4.693950	0.00924	N	0.002634	T	0.55800	0.1943	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50808	-0.8784	10	0.41790	T	0.15	.	1.4505	0.02374	0.1823:0.231:0.3541:0.2326	.	620	Q86W26	NAL10_HUMAN	F	620	ENSP00000327763:S620F	ENSP00000327763:S620F	S	-	2	0	NLRP10	7937876	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.226000	0.02953	-3.014000	0.00272	-1.008000	0.02478	TCT		0.393	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1		NM_176821	
NLRP10	338322	hgsc.bcm.edu	37	11	7981306	7981306	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr11:7981306C>A	ENST00000328600.2	-	2	2014	c.1853G>T	c.(1852-1854)tGt>tTt	p.C618F		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	618					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACAGAAGGACATTTTTGCTC	0.398																																																	0													97.0	89.0	91.0					11																	7981306		2201	4295	6496	SO:0001583	missense	338322			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1853G>T	11.37:g.7981306C>A	ENSP00000327763:p.Cys618Phe	Somatic		WXS	SOLID	Phase_I	Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	C	9.233	1.036302	0.19669	.	.	ENSG00000182261	ENST00000328600	D	0.87571	-2.27	3.25	2.34	0.29019	.	1.346570	0.05421	N	0.544148	T	0.74658	0.3745	N	0.19112	0.55	0.09310	N	1	P	0.46277	0.875	B	0.38327	0.271	T	0.64504	-0.6392	10	0.09843	T	0.71	.	6.7198	0.23325	0.0:0.8703:0.0:0.1297	.	618	Q86W26	NAL10_HUMAN	F	618	ENSP00000327763:C618F	ENSP00000327763:C618F	C	-	2	0	NLRP10	7937882	0.000000	0.05858	0.007000	0.13788	0.016000	0.09150	0.179000	0.16840	0.970000	0.38263	-0.217000	0.12591	TGT		0.398	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1		NM_176821	
NXF3	56000	hgsc.bcm.edu	37	X	102337711	102337711	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chrX:102337711C>T	ENST00000395065.3	-	8	858	c.757G>A	c.(757-759)Gtc>Atc	p.V253I	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.V164I	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	253					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TCTTCATGGACGTCCAGGGAG	0.478																																																	0													174.0	145.0	154.0					X																	102337711		2203	4300	6503	SO:0001583	missense	56000			AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.757G>A	X.37:g.102337711C>T	ENSP00000378504:p.Val253Ile	Somatic		WXS	SOLID	Phase_I	B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	CCDS14503.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.019|0.019	-1.461864|-1.461864	0.01062|0.01062	.|.	.|.	ENSG00000147206|ENSG00000147206	ENST00000427570|ENST00000395065;ENST00000425463	.|T;T	.|0.33865	.|1.39;1.39	3.64|3.64	1.2|1.2	0.21068|0.21068	.|.	.|0.308479	.|0.33364	.|N	.|0.004994	T|T	0.07638|0.07638	0.0192|0.0192	N|N	0.00686|0.00686	-1.255|-1.255	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.17852	.|0.024;0.011;0.004	.|B;B;B	.|0.10450	.|0.005;0.003;0.001	T|T	0.37314|0.37314	-0.9711|-0.9711	5|10	.|0.02654	.|T	.|1	-12.7344|-12.7344	4.8575|4.8575	0.13566|0.13566	0.0:0.2749:0.0:0.7251|0.0:0.2749:0.0:0.7251	.|.	.|253;149;253	.|B4DYI1;E9PEY7;Q9H4D5	.|.;.;NXF3_HUMAN	H|I	129|253;164	.|ENSP00000378504:V253I;ENSP00000404347:V164I	.|ENSP00000378504:V253I	R|V	-|-	2|1	0|0	NXF3|NXF3	102224367|102224367	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.923000|0.923000	0.28757|0.28757	0.139000|0.139000	0.18822|0.18822	-0.881000|-0.881000	0.02953|0.02953	CGT|GTC		0.478	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1		NM_022052	
TENM2	57451	hgsc.bcm.edu	37	5	167689204	167689204	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr5:167689204A>C	ENST00000518659.1	+	29	7753	c.7714A>C	c.(7714-7716)Atc>Ctc	p.I2572L	TENM2_ENST00000519204.1_Missense_Mutation_p.I2451L|TENM2_ENST00000520394.1_Missense_Mutation_p.I2333L|TENM2_ENST00000545108.1_Missense_Mutation_p.I2571L|TENM2_ENST00000403607.2_Missense_Mutation_p.I2396L	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2572					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TGGCAAAGGCATCATGTTTGC	0.557																																																	0													29.0	32.0	31.0					5																	167689204		2040	4207	6247	SO:0001583	missense	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7714A>C	5.37:g.167689204A>C	ENSP00000429430:p.Ile2572Leu	Somatic		WXS	SOLID	Phase_I	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	A	11.93	1.785016	0.31593	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.91464	-2.37;-2.36;-2.49;-2.83;-2.85	5.42	3.02	0.34903	.	0.201159	0.51477	D	0.000082	D	0.85613	0.5737	L	0.43923	1.385	0.36907	D	0.890709	B;B;B	0.23249	0.082;0.049;0.007	B;B;B	0.24394	0.053;0.024;0.006	T	0.81230	-0.1027	10	0.46703	T	0.11	.	9.8695	0.41166	0.8602:0.0:0.1398:0.0	.	2571;2572;2333	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	L	2572;2571;2451;2333;2396	ENSP00000429430:I2572L;ENSP00000438635:I2571L;ENSP00000428964:I2451L;ENSP00000427874:I2333L;ENSP00000384905:I2396L	ENSP00000384905:I2396L	I	+	1	0	ODZ2	167621782	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	4.537000	0.60643	0.438000	0.26450	0.533000	0.62120	ATC		0.557	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1		NM_001122679	
PABPC1	26986	hgsc.bcm.edu	37	8	101730043	101730043	+	Missense_Mutation	SNP	G	G	C	rs113614781	byFrequency	TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr8:101730043G>C	ENST00000318607.5	-	3	1589	c.461C>G	c.(460-462)gCt>gGt	p.A154G	PABPC1_ENST00000522387.1_Missense_Mutation_p.A122G|PABPC1_ENST00000519004.1_Missense_Mutation_p.A109G|PABPC1_ENST00000519596.1_5'Flank	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	154	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TTTTTCAATAGCTCTTTCAGC	0.328																																																	0													85.0	80.0	82.0					8																	101730043		2203	4300	6503	SO:0001583	missense	26986			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.461C>G	8.37:g.101730043G>C	ENSP00000313007:p.Ala154Gly	Somatic		WXS	SOLID	Phase_I	Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	35|35|35	5.597741|5.597741|5.597741	0.96602|0.96602|0.96602	.|.|.	.|.|.	ENSG00000070756|ENSG00000070756|ENSG00000070756	ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387|ENST00000519100|ENST00000523555	T;T;T|.|.	0.37915|.|.	1.17;1.17;1.17|.|.	5.18|5.18|5.18	5.18|5.18|5.18	0.71444|0.71444|0.71444	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.|.	0.000000|.|.	0.64402|.|.	D|.|.	0.000007|.|.	D|D|D	0.85243|0.85243|0.85243	0.5652|0.5652|0.5652	M|M|M	0.90082|0.90082|0.90082	3.085|3.085|3.085	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D|.|.	0.89917|.|.	1.0;0.998;0.998|.|.	D;D;D|.|.	0.85130|.|.	0.997;0.972;0.959|.|.	D|D|D	0.87829|0.87829|0.87829	0.2643|0.2643|0.2643	10|5|5	0.87932|.|.	D|.|.	0|.|.	.|.|.	19.0658|19.0658|19.0658	0.93110|0.93110|0.93110	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	122;154;154|.|.	E7ERJ7;B3KT93;P11940|.|.	.;.;PABP1_HUMAN|.|.	G|V|R	154;154;109;122|26|100	ENSP00000313007:A154G;ENSP00000429594:A109G;ENSP00000429395:A122G|.|.	ENSP00000313007:A154G|.|.	A|L|S	-|-|-	2|1|3	0|2|2	PABPC1|PABPC1|PABPC1	101799219|101799219|101799219	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.996000|0.996000|0.996000	0.88848|0.88848|0.88848	8.005000|8.005000|8.005000	0.88553|0.88553|0.88553	2.580000|2.580000|2.580000	0.87095|0.87095|0.87095	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GCT|CTA|AGC		0.328	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1		NM_002568	
PABPC3	5042	hgsc.bcm.edu	37	13	25671755	25671755	+	Silent	SNP	G	G	A	rs116223079	byFrequency	TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr13:25671755G>A	ENST00000281589.3	+	1	1456	c.1419G>A	c.(1417-1419)acG>acA	p.T473T		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	473					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCATGTCAACGCAGCGTGTTG	0.537																																																	0													96.0	87.0	90.0					13																	25671755		2203	4300	6503	SO:0001819	synonymous_variant	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1419G>A	13.37:g.25671755G>A		Somatic		WXS	SOLID	Phase_I	Q8NHV0|Q9H086	Silent	SNP	ENST00000281589.3	37	CCDS9311.1																																																																																				0.537	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2		NM_030979	
PABPC3	5042	hgsc.bcm.edu	37	13	25671759	25671759	+	Missense_Mutation	SNP	C	C	T	rs115121649	byFrequency	TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr13:25671759C>T	ENST00000281589.3	+	1	1460	c.1423C>T	c.(1423-1425)Cgt>Tgt	p.R475C		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	475					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GTCAACGCAGCGTGTTGCTAA	0.532																																																	0													93.0	84.0	87.0					13																	25671759		2203	4300	6503	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1423C>T	13.37:g.25671759C>T	ENSP00000281589:p.Arg475Cys	Somatic		WXS	SOLID	Phase_I	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	7.042	0.562727	0.13498	.	.	ENSG00000151846	ENST00000281589	T	0.29142	1.58	0.875	-1.75	0.08031	.	0.000000	0.48767	U	0.000176	T	0.32346	0.0826	M	0.86740	2.835	0.52501	D	0.999952	B	0.11235	0.004	B	0.06405	0.002	T	0.03750	-1.1007	10	0.48119	T	0.1	.	6.6426	0.22917	0.0:0.732:0.0:0.268	.	475	Q9H361	PABP3_HUMAN	C	475	ENSP00000281589:R475C	ENSP00000281589:R475C	R	+	1	0	PABPC3	24569759	1.000000	0.71417	0.869000	0.34112	0.045000	0.14185	1.663000	0.37429	-0.898000	0.03906	-1.305000	0.01319	CGT		0.532	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2		NM_030979	
PPAP2C	8612	hgsc.bcm.edu	37	19	287592	287592	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr19:287592G>A	ENST00000269812.3	-	3	413	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	PPAP2C_ENST00000327790.3_Missense_Mutation_p.R143C|PPAP2C_ENST00000434325.2_Missense_Mutation_p.R66C	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	122					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCTCAGACGCCCAATCATG	0.597																																																	0													108.0	111.0	110.0					19																	287592		2203	4300	6503	SO:0001583	missense	8612			AF035959	CCDS12023.1, CCDS12024.1, CCDS45889.1	19p13	2009-05-27				ENSG00000141934	3.1.3.4		9230	protein-coding gene	gene with protein product		607126				9570154, 9607309	Standard	NM_177543		Approved	PAP-2c, LPP2	uc002loh.3	O43688		ENST00000269812.3:c.364C>T	19.37:g.287592G>A	ENSP00000269812:p.Arg122Cys	Somatic		WXS	SOLID	Phase_I	A6NLV0|E9PAY8	Missense_Mutation	SNP	ENST00000269812.3	37	CCDS12023.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419645	0.62622	.	.	ENSG00000141934	ENST00000269812;ENST00000327790;ENST00000434325	D;D;D	0.82711	-1.64;-1.64;-1.64	4.93	4.93	0.64822	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.058944	0.64402	D	0.000001	D	0.95538	0.8550	H	0.99619	4.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.97967	1.0341	10	0.87932	D	0	-12.3435	16.7212	0.85410	0.0:0.0:1.0:0.0	.	122;143	O43688;O43688-2	LPP2_HUMAN;.	C	122;143;66	ENSP00000269812:R122C;ENSP00000329697:R143C;ENSP00000388565:R66C	ENSP00000269812:R122C	R	-	1	0	PPAP2C	238592	1.000000	0.71417	0.972000	0.41901	0.009000	0.06853	7.466000	0.80914	2.281000	0.76405	0.655000	0.94253	CGT		0.597	PPAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451777.2			
SAMD4B	55095	hgsc.bcm.edu;ucsc.edu	37	19	39876968	39876968	+	IGR	SNP	C	C	T	rs145620122		TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr19:39876968C>T	ENST00000314471.6	+	0	4519				PAF1_ENST00000221265.3_Missense_Mutation_p.R420Q|PAF1_ENST00000595564.1_Intron|PAF1_ENST00000221266.7_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ACCTTCCTCCCGTTCACTCTC	0.602																																																	0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	207.0	178.0	188.0		1259	3.2	0.6	19	dbSNP_134	188	0,8600		0,0,4300	no	missense	PAF1	NM_019088.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	420/532	39876968	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	54623				CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9			19.37:g.39876968C>T		Somatic		WXS	SOLID	Phase_I	A5Z0M6|Q6P194	Missense_Mutation	SNP	ENST00000314471.6	37	CCDS33020.1	.	.	.	.	.	.	.	.	.	.	c	8.695	0.908265	0.17833	2.27E-4	0.0	ENSG00000006712	ENST00000221265	.	.	.	5.36	3.23	0.37069	.	0.738722	0.13009	N	0.420997	T	0.41190	0.1148	N	0.22421	0.69	0.80722	D	1	B	0.20671	0.047	B	0.11329	0.006	T	0.11446	-1.0587	9	0.29301	T	0.29	-6.5496	9.6306	0.39776	0.0:0.8287:0.0:0.1713	.	420	Q8N7H5	PAF1_HUMAN	Q	420	.	ENSP00000221265:R420Q	R	-	2	0	PAF1	44568808	0.001000	0.12720	0.593000	0.28771	0.065000	0.16274	0.194000	0.17135	0.649000	0.30751	0.450000	0.29827	CGG		0.602	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1		NM_018028	
PPARGC1B	133522	hgsc.bcm.edu	37	5	149210396	149210396	+	Missense_Mutation	SNP	G	G	C	rs189353551		TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr5:149210396G>C	ENST00000309241.5	+	4	564	c.532G>C	c.(532-534)Gcc>Ccc	p.A178P	PPARGC1B_ENST00000394320.3_Missense_Mutation_p.A178P|PPARGC1B_ENST00000360453.4_Intron|PPARGC1B_ENST00000403750.1_Intron	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	178					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGAAGGGACCGCCTGGCGCCA	0.577																																																	0													99.0	104.0	102.0					5																	149210396		2203	4300	6503	SO:0001583	missense	133522			AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.532G>C	5.37:g.149210396G>C	ENSP00000312649:p.Ala178Pro	Somatic		WXS	SOLID	Phase_I	A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839278	0.71373	.	.	ENSG00000155846	ENST00000394320;ENST00000309241	T;T	0.09723	2.95;2.96	5.29	-9.07	0.00724	.	0.903404	0.09510	N	0.792383	T	0.09862	0.0242	L	0.59436	1.845	0.36951	D	0.892856	B;B;B;P	0.51537	0.003;0.018;0.002;0.946	B;B;B;P	0.49683	0.013;0.019;0.003;0.619	T	0.49293	-0.8955	10	0.25751	T	0.34	-6.896	1.4094	0.02287	0.3069:0.083:0.2312:0.3789	.	157;157;178;178	Q86YN6-2;Q86YN6-4;Q86YN6;Q86YN6-3	.;.;PRGC2_HUMAN;.	P	178	ENSP00000377855:A178P;ENSP00000312649:A178P	ENSP00000312649:A178P	A	+	1	0	PPARGC1B	149190589	0.000000	0.05858	0.000000	0.03702	0.849000	0.48306	-0.281000	0.08456	-1.252000	0.02491	0.561000	0.74099	GCC		0.577	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1		NM_133263	
PPP2R2C	5522	hgsc.bcm.edu	37	4	6374376	6374376	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr4:6374376T>C	ENST00000382599.4	-	5	715	c.499A>G	c.(499-501)Atc>Gtc	p.I167V	PPP2R2C_ENST00000506140.1_Missense_Mutation_p.I160V|PPP2R2C_ENST00000335585.5_Missense_Mutation_p.I167V|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.I160V|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.I150V			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	167					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TTGGCAAAGATCCTCCGAGGG	0.582																																																	0													211.0	175.0	187.0					4																	6374376		2203	4300	6503	SO:0001583	missense	5522			AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9306	protein-coding gene	gene with protein product	"""PP2A subunit B isoform gamma"""	605997	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"""			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.499A>G	4.37:g.6374376T>C	ENSP00000372042:p.Ile167Val	Somatic		WXS	SOLID	Phase_I	A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Missense_Mutation	SNP	ENST00000382599.4	37		.	.	.	.	.	.	.	.	.	.	T	2.158	-0.392877	0.04899	.	.	ENSG00000074211	ENST00000335585;ENST00000506140;ENST00000515571;ENST00000382599;ENST00000507294	T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66	4.15	2.09	0.27110	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.259965	0.37053	N	0.002265	T	0.09818	0.0241	N	0.04018	-0.295	0.32668	N	0.517188	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.001;0.003;0.001;0.0;0.001	T	0.33497	-0.9866	10	0.02654	T	1	-27.6013	5.8373	0.18615	0.0:0.204:0.0:0.796	.	160;263;167;150;167	B7Z3Y1;Q59GC6;Q9Y2T4;Q9Y2T4-3;Q9Y2T4-2	.;.;2ABG_HUMAN;.;.	V	167;160;150;167;160	ENSP00000335083:I167V;ENSP00000423649:I160V;ENSP00000422374:I150V;ENSP00000372042:I167V;ENSP00000425247:I160V	ENSP00000335083:I167V	I	-	1	0	PPP2R2C	6425277	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.641000	0.46587	0.898000	0.36418	0.260000	0.18958	ATC		0.582	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2		NM_181876	
NPY4R	5540	hgsc.bcm.edu	37	10	47087499	47087499	+	Missense_Mutation	SNP	G	G	A	rs114592738	byFrequency	TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	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	Somatic		WXS	SOLID	Phase_I	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			
PRUNE2	158471	hgsc.bcm.edu	37	9	79318381	79318381	+	Silent	SNP	A	A	T	rs376038487|rs113471142|rs11267615	byFrequency	TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr9:79318381A>T	ENST00000376718.3	-	9	8271	c.8148T>A	c.(8146-8148)gcT>gcA	p.A2716A	PRUNE2_ENST00000428286.1_Silent_p.A2357A	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2716					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CATGGGTGACAGCCTGCAACG	0.517																																																	0													77.0	59.0	65.0					9																	79318381		1171	2533	3704	SO:0001819	synonymous_variant	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8148T>A	9.37:g.79318381A>T		Somatic		WXS	SOLID	Phase_I	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	CCDS47982.1	517	0.2367216117216117	87	0.17682926829268292	64	0.17679558011049723	229	0.40034965034965037	137	0.18073878627968337	A	10.34	1.323317	0.24080	.	.	ENSG00000106772	ENST00000426088	.	.	.	5.89	-3.37	0.04898	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47394	-0.9121	4	.	.	.	0.0386	8.1474	0.31119	0.3085:0.5438:0.0655:0.0822	.	.	.	.	S	2038	.	.	C	-	1	0	PRUNE2	78508201	0.025000	0.19082	0.206000	0.23566	0.391000	0.30476	-0.020000	0.12525	-0.420000	0.07427	0.477000	0.44152	TGT		0.517	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2		NM_138818	
RANBP3L	202151	hgsc.bcm.edu;ucsc.edu	37	5	36301485	36301485	+	Silent	SNP	G	G	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr5:36301485G>A	ENST00000296604.3	-	1	519	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	RANBP3L_ENST00000502994.1_Silent_p.L12L|RANBP3L_ENST00000515759.1_Silent_p.L12L	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	12					intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CTGCCAGGCAGGTGGCTGCTG	0.532																																																	0													157.0	145.0	149.0					5																	36301485		2203	4300	6503	SO:0001819	synonymous_variant	202151			BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.34C>T	5.37:g.36301485G>A		Somatic		WXS	SOLID	Phase_I	B7Z866|E9PGP9|Q96LK2	Silent	SNP	ENST00000296604.3	37	CCDS3918.1																																																																																				0.532	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2		NM_145000	
RC3H1	149041	hgsc.bcm.edu;ucsc.edu	37	1	173916561	173916561	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr1:173916561G>C	ENST00000367696.2	-	15	3034	c.2683C>G	c.(2683-2685)Cca>Gca	p.P895A	RC3H1_ENST00000367694.2_Missense_Mutation_p.P895A|RC3H1_ENST00000258349.4_Missense_Mutation_p.P895A			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	895					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GCCTGCATTGGACCAGCACCC	0.453																																																	0													127.0	128.0	128.0					1																	173916561		2203	4300	6503	SO:0001583	missense	149041			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.2683C>G	1.37:g.173916561G>C	ENSP00000356669:p.Pro895Ala	Somatic		WXS	SOLID	Phase_I	B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.786790	0.90367	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.71222	-0.54;-0.54;-0.55	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.80555	0.4645	L	0.61218	1.895	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.85130	0.994;0.994;0.997;0.994	T	0.81072	-0.1098	10	0.59425	D	0.04	-11.2999	19.3109	0.94187	0.0:0.0:1.0:0.0	.	895;895;895;895	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	A	895	ENSP00000356669:P895A;ENSP00000258349:P895A;ENSP00000356667:P895A	ENSP00000258349:P895A	P	-	1	0	RC3H1	172183184	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.338000	0.96553	2.555000	0.86185	0.591000	0.81541	CCA		0.453	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2		NM_172071	
RSPH6A	81492	hgsc.bcm.edu	37	19	46318216	46318216	+	Silent	SNP	C	C	T	rs61730712	byFrequency	TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr19:46318216C>T	ENST00000221538.3	-	1	361	c.219G>A	c.(217-219)caG>caA	p.Q73Q	RSPH6A_ENST00000597055.1_Silent_p.Q73Q|SYMPK_ENST00000598155.1_5'Flank	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	73						intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CCTGGAAGACCTGGGGCATCA	0.602													C|||	19	0.00379393	0.0008	0.0029	5008	,	,		16738	0.0		0.0119	False		,,,				2504	0.0041																0								C		9,4397	14.3+/-33.2	0,9,2194	52.0	47.0	49.0		219	0.4	0.0	19	dbSNP_129	49	138,8462	67.0+/-129.4	3,132,4165	no	coding-synonymous	RSPH6A	NM_030785.3		3,141,6359	TT,TC,CC		1.6047,0.2043,1.1302		73/718	46318216	147,12859	2203	4300	6503	SO:0001819	synonymous_variant	81492			AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.219G>A	19.37:g.46318216C>T		Somatic		WXS	SOLID	Phase_I	Q53FE2|Q6PEZ9	Silent	SNP	ENST00000221538.3	37	CCDS12675.1																																																																																				0.602	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			
RTKN	6242	hgsc.bcm.edu	37	2	74657145	74657145	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr2:74657145A>T	ENST00000233330.6	-	6	732	c.415T>A	c.(415-417)Ttt>Att	p.F139I	RTKN_ENST00000272430.5_Missense_Mutation_p.F189I|RTKN_ENST00000484453.1_5'Flank|RTKN_ENST00000305557.5_Missense_Mutation_p.F176I	NM_001015056.1	NP_001015056.1			rhotekin											endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						CGCAGTTCAAAGTCTGGCCCC	0.627																																																	0													42.0	47.0	45.0					2																	74657145		2169	4284	6453	SO:0001583	missense	6242			AF049227	CCDS1941.1, CCDS33226.1, CCDS42699.1	2p13.1	2013-01-10			ENSG00000114993	ENSG00000114993		"""Pleckstrin homology (PH) domain containing"""	10466	protein-coding gene	gene with protein product		602288				9073523, 10940294	Standard	XM_005264478		Approved	B5	uc002sle.3	Q9BST9	OTTHUMG00000129955	ENST00000233330.6:c.415T>A	2.37:g.74657145A>T	ENSP00000233330:p.Phe139Ile	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000233330.6	37	CCDS42699.1	.	.	.	.	.	.	.	.	.	.	A	33	5.235981	0.95240	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	T;T;T	0.58652	0.32;0.32;0.32	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.75917	0.3915	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79650	-0.1715	10	0.87932	D	0	.	12.7821	0.57483	1.0:0.0:0.0:0.0	.	189;176	Q9BST9;Q9BST9-2	RTKN_HUMAN;.	I	176;189;139	ENSP00000305298:F176I;ENSP00000272430:F189I;ENSP00000233330:F139I	ENSP00000233330:F139I	F	-	1	0	RTKN	74510653	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.586000	0.90806	2.117000	0.64856	0.459000	0.35465	TTT		0.627	RTKN-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328236.3		NM_001015055	
SDAD1	55153	hgsc.bcm.edu;ucsc.edu	37	4	76878693	76878693	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr4:76878693T>C	ENST00000356260.5	-	19	1865	c.1747A>G	c.(1747-1749)Ata>Gta	p.I583V	SDAD1_ENST00000513089.1_5'Flank|SDAD1_ENST00000395711.4_Missense_Mutation_p.I546V	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	583					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCACTGTCTATTTCAATGTAT	0.423																																																	0													135.0	134.0	135.0					4																	76878693		2203	4300	6503	SO:0001583	missense	55153			AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.1747A>G	4.37:g.76878693T>C	ENSP00000348596:p.Ile583Val	Somatic		WXS	SOLID	Phase_I	Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Missense_Mutation	SNP	ENST00000356260.5	37	CCDS3573.2	.	.	.	.	.	.	.	.	.	.	T	1.327	-0.597966	0.03771	.	.	ENSG00000198301	ENST00000356260;ENST00000395711	T;T	0.21543	2.0;2.0	5.15	2.54	0.30619	SDA1 (1);	0.462012	0.24029	N	0.042220	T	0.09158	0.0226	N	0.11560	0.145	0.09310	N	1	B;B	0.21071	0.004;0.051	B;B	0.20577	0.007;0.03	T	0.33954	-0.9848	10	0.16420	T	0.52	-10.0509	6.9385	0.24481	0.0:0.0849:0.1493:0.7657	.	546;583	E7EW05;Q9NVU7	.;SDA1_HUMAN	V	583;546	ENSP00000348596:I583V;ENSP00000379061:I546V	ENSP00000348596:I583V	I	-	1	0	SDAD1	77097717	1.000000	0.71417	0.679000	0.29978	0.510000	0.34073	1.654000	0.37334	0.925000	0.37094	0.528000	0.53228	ATA		0.423	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3		NM_018115	
SETD2	29072	hgsc.bcm.edu	37	3	47122556	47122556	+	Intron	SNP	C	C	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr3:47122556C>A	ENST00000409792.3	-	12	6103				SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2						angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTAACAAGCTCCTTGCTGCCC	0.448			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													142.0	127.0	132.0					3																	47122556		692	1591	2283	SO:0001627	intron_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6060+2653G>T	3.37:g.47122556C>A		Somatic		WXS	SOLID	Phase_I	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Intron	SNP	ENST00000409792.3	37	CCDS2749.2																																																																																				0.448	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159	
SNAP23	8773	hgsc.bcm.edu;ucsc.edu	37	15	42822003	42822003	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr15:42822003C>T	ENST00000249647.3	+	7	1024	c.556C>T	c.(556-558)Cga>Tga	p.R186*	RP11-265N6.1_ENST00000564805.1_RNA|SNAP23_ENST00000397138.1_Nonsense_Mutation_p.R133*|SNAP23_ENST00000349777.1_Nonsense_Mutation_p.R133*|SNAP23_ENST00000564153.1_Intron	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa	186	t-SNARE coiled-coil homology 2. {ECO:0000255|PROSITE-ProRule:PRU00202}.				exocytosis (GO:0006887)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	azurophil granule (GO:0042582)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|synapse (GO:0045202)				large_intestine(1)|lung(1)	2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		ACAAATAAAACGAATCACAGA	0.418																																																	0													102.0	96.0	98.0					15																	42822003		2203	4299	6502	SO:0001587	stop_gained	8773			Y09567	CCDS10087.1, CCDS10088.1	15q14	2004-01-19	2002-08-29		ENSG00000092531	ENSG00000092531			11131	protein-coding gene	gene with protein product		602534	"""synaptosomal-associated protein, 23kD"""			9070898, 8663154	Standard	NM_003825		Approved	SNAP23A, SNAP23B, HsT17016	uc001zpz.2	O00161	OTTHUMG00000130625	ENST00000249647.3:c.556C>T	15.37:g.42822003C>T	ENSP00000249647:p.Arg186*	Somatic		WXS	SOLID	Phase_I	O00162|Q13602|Q6IAE3	Nonsense_Mutation	SNP	ENST00000249647.3	37	CCDS10087.1	.	.	.	.	.	.	.	.	.	.	C	2.570	-0.299903	0.05532	.	.	ENSG00000092531	ENST00000249647;ENST00000349777;ENST00000397138	.	.	.	5.64	1.16	0.20824	.	0.507597	0.22362	N	0.061079	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4173	9.2908	0.37786	0.3635:0.5694:0.0:0.0672	.	.	.	.	X	186;133;133	.	ENSP00000249647:R186X	R	+	1	2	SNAP23	40609295	0.594000	0.26849	0.002000	0.10522	0.213000	0.24496	1.417000	0.34770	0.334000	0.23590	0.655000	0.94253	CGA		0.418	SNAP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253111.4		NM_003825	
SSRP1	6749	hgsc.bcm.edu;ucsc.edu	37	11	57100524	57100524	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr11:57100524T>G	ENST00000278412.2	-	5	712	c.446A>C	c.(445-447)gAa>gCa	p.E149A		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	149					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TTGGTGGAATTCCAGTGTCAC	0.552																																					Colon(89;1000 1340 6884 23013 41819)												0													192.0	159.0	170.0					11																	57100524		2201	4296	6497	SO:0001583	missense	6749			M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.446A>C	11.37:g.57100524T>G	ENSP00000278412:p.Glu149Ala	Somatic		WXS	SOLID	Phase_I	Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.769881	0.90020	.	.	ENSG00000149136	ENST00000278412;ENST00000526696;ENST00000529002	T;T;T	0.60171	0.21;0.21;0.21	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.81973	0.4936	M	0.92880	3.355	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.83275	0.996;0.992	D	0.86334	0.1700	10	0.87932	D	0	.	16.2378	0.82389	0.0:0.0:0.0:1.0	.	448;149	Q59GH7;Q08945	.;SSRP1_HUMAN	A	149;52;52	ENSP00000278412:E149A;ENSP00000431154:E52A;ENSP00000434546:E52A	ENSP00000278412:E149A	E	-	2	0	SSRP1	56857100	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	7.615000	0.83006	2.317000	0.78254	0.459000	0.35465	GAA		0.552	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1		NM_003146	
STC1	6781	hgsc.bcm.edu	37	8	23702339	23702339	+	Silent	SNP	G	G	T	rs143563807		TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr8:23702339G>T	ENST00000290271.2	-	4	971	c.688C>A	c.(688-690)Cga>Aga	p.R230R	STC1_ENST00000524323.1_Silent_p.R161R	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	230					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.R230G(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TCCTCACCTCGGAGGTTCCTG	0.527																																																	1	Substitution - Missense(1)	skin(1)											132.0	111.0	118.0					8																	23702339		2203	4300	6503	SO:0001819	synonymous_variant	6781				CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.688C>A	8.37:g.23702339G>T		Somatic		WXS	SOLID	Phase_I	B4DN22|Q71UE5	Silent	SNP	ENST00000290271.2	37	CCDS6043.1																																																																																				0.527	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215143.1			
STX19	415117	hgsc.bcm.edu;ucsc.edu	37	3	93733631	93733631	+	Silent	SNP	C	C	T			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr3:93733631C>T	ENST00000315099.2	-	2	739	c.483G>A	c.(481-483)aaG>aaA	p.K161K	ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000394222.3_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	161					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						ATGTCTTGCACTTCTCTTGCT	0.363																																																	0													142.0	136.0	138.0					3																	93733631		2203	4300	6503	SO:0001819	synonymous_variant	415117			AF461456	CCDS33793.1	3q11	2005-12-30			ENSG00000178750	ENSG00000178750			19300	protein-coding gene	gene with protein product							Standard	NM_001001850		Approved	MGC21382	uc003drh.1	Q8N4C7	OTTHUMG00000159013	ENST00000315099.2:c.483G>A	3.37:g.93733631C>T		Somatic		WXS	SOLID	Phase_I		Silent	SNP	ENST00000315099.2	37	CCDS33793.1																																																																																				0.363	STX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352909.1		NM_001001850	
TCP11	6954	hgsc.bcm.edu;ucsc.edu	37	6	35089937	35089937	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr6:35089937C>G	ENST00000512012.1	-	4	691	c.535G>C	c.(535-537)Gtg>Ctg	p.V179L	TCP11_ENST00000444780.2_Missense_Mutation_p.V187L|TCP11_ENST00000311875.5_Missense_Mutation_p.V192L|TCP11_ENST00000412155.2_Missense_Mutation_p.V141L|TCP11_ENST00000373974.4_Missense_Mutation_p.V146L|TCP11_ENST00000373979.2_Missense_Mutation_p.V117L|TCP11_ENST00000244645.3_Missense_Mutation_p.V117L|TCP11_ENST00000418521.2_Missense_Mutation_p.V116L			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	179					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						AGTTTCTGCACTGCTTCATCT	0.488																																																	0													137.0	125.0	129.0					6																	35089937		2203	4300	6503	SO:0001583	missense	6954				CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"""fertilization-promoting peptide receptor"""	186982	"""t-complex 11 (a murine tcp homolog)"", ""t-complex 11 homolog (mouse)"""	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.535G>C	6.37:g.35089937C>G	ENSP00000425995:p.Val179Leu	Somatic		WXS	SOLID	Phase_I	B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Missense_Mutation	SNP	ENST00000512012.1	37		.	.	.	.	.	.	.	.	.	.	C	12.21	1.868704	0.32977	.	.	ENSG00000124678	ENST00000373979;ENST00000412155;ENST00000244645;ENST00000373977;ENST00000311875;ENST00000444780;ENST00000373974;ENST00000418521;ENST00000512012;ENST00000486638	T;T;T;T;T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47;2.47;2.47;2.47;2.47	4.18	2.39	0.29439	.	0.152547	0.42964	N	0.000623	T	0.13200	0.0320	M	0.87682	2.9	0.46499	D	0.999072	B;B;B;B;B;B	0.28470	0.087;0.087;0.087;0.213;0.087;0.074	B;B;B;B;B;B	0.35813	0.133;0.133;0.133;0.211;0.133;0.104	T	0.02698	-1.1122	10	0.48119	T	0.1	.	4.9112	0.13823	0.0:0.5905:0.1859:0.2236	.	146;141;187;252;179;117	B7Z7G1;E7EP29;B7Z7B5;Q5TB88;Q8WWU5;Q8WWU5-2	.;.;.;.;TCP11_HUMAN;.	L	117;141;117;141;192;187;146;116;179;38	ENSP00000363091:V117L;ENSP00000402816:V141L;ENSP00000244645:V117L;ENSP00000308708:V192L;ENSP00000404479:V187L;ENSP00000363085:V146L;ENSP00000415320:V116L;ENSP00000425995:V179L;ENSP00000421103:V38L	ENSP00000244645:V117L	V	-	1	0	TCP11	35197915	0.095000	0.21747	0.982000	0.44146	0.628000	0.37860	0.520000	0.22878	1.124000	0.41980	-0.223000	0.12442	GTG		0.488	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1		NM_001093728	
TPSD1	23430	hgsc.bcm.edu	37	16	1306971	1306971	+	Missense_Mutation	SNP	A	A	G	rs72775466		TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr16:1306971A>G	ENST00000211076.3	+	3	576	c.428A>G	c.(427-429)cAc>cGc	p.H143R	TPSD1_ENST00000397534.2_Missense_Mutation_p.H136R|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	143	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				ATCTCCAGCCACATCCACACG	0.647																																																	0													49.0	47.0	47.0					16																	1306971		2198	4299	6497	SO:0001583	missense	23430			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.428A>G	16.37:g.1306971A>G	ENSP00000211076:p.His143Arg	Somatic		WXS	SOLID	Phase_I	O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	ENST00000211076.3	37	CCDS10432.1	.	.	.	.	.	.	.	.	.	.	a	0.006	-2.041578	0.00402	.	.	ENSG00000095917	ENST00000397534;ENST00000211076	T;T	0.81330	-1.48;-1.48	2.55	1.26	0.21427	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.828860	0.02995	N	0.147379	T	0.68035	0.2957	N	0.20304	0.555	0.80722	P	0.0	B;B	0.10296	0.003;0.003	B;B	0.14578	0.011;0.011	T	0.55823	-0.8080	9	0.30078	T	0.28	.	5.9116	0.19031	0.767:0.0:0.0:0.233	.	127;143	C9JJL5;Q9BZJ3	.;TRYD_HUMAN	R	136;143	ENSP00000380668:H136R;ENSP00000211076:H143R	ENSP00000211076:H143R	H	+	2	0	TPSD1	1246972	0.000000	0.05858	0.001000	0.08648	0.073000	0.16967	-0.594000	0.05733	1.156000	0.42514	0.155000	0.16302	CAC		0.647	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			
TPSD1	23430	hgsc.bcm.edu	37	16	1306973	1306973	+	Missense_Mutation	SNP	A	A	G	rs79313952		TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr16:1306973A>G	ENST00000211076.3	+	3	578	c.430A>G	c.(430-432)Atc>Gtc	p.I144V	TPSD1_ENST00000397534.2_Missense_Mutation_p.I137V|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	144	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				CTCCAGCCACATCCACACGGT	0.642																																																	0													49.0	47.0	47.0					16																	1306973		2198	4299	6497	SO:0001583	missense	23430			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.430A>G	16.37:g.1306973A>G	ENSP00000211076:p.Ile144Val	Somatic		WXS	SOLID	Phase_I	O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	ENST00000211076.3	37	CCDS10432.1	761	0.3484432234432234	140	0.2845528455284553	110	0.30386740331491713	250	0.4370629370629371	261	0.34432717678100266	a	0.001	-2.882799	0.00061	.	.	ENSG00000095917	ENST00000397534;ENST00000211076	D;D	0.85702	-2.02;-2.02	2.55	-5.1	0.02911	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.756136	0.11242	N	0.584558	T	0.00012	0.0000	N	0.04043	-0.29	0.80722	P	0.0	B;B	0.06786	0.0;0.001	B;B	0.13407	0.009;0.009	T	0.23404	-1.0189	9	0.02654	T	1	.	0.0994	0.00046	0.3174:0.1569:0.211:0.3148	.	128;144	C9JJL5;Q9BZJ3	.;TRYD_HUMAN	V	137;144	ENSP00000380668:I137V;ENSP00000211076:I144V	ENSP00000211076:I144V	I	+	1	0	TPSD1	1246974	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-1.101000	0.03336	-1.132000	0.02907	-1.639000	0.00775	ATC		0.642	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			
TPPP3	51673	hgsc.bcm.edu;ucsc.edu	37	16	67424948	67424948	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr16:67424948G>A	ENST00000564104.1	-	1	908	c.67C>T	c.(67-69)Ccc>Tcc	p.P23S	TPPP3_ENST00000393957.2_Missense_Mutation_p.P23S|TPPP3_ENST00000562206.1_Missense_Mutation_p.P23S|TPPP3_ENST00000290942.5_Missense_Mutation_p.P23S|RNU1-123P_ENST00000458950.1_RNA			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	23					microtubule bundle formation (GO:0001578)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	tubulin binding (GO:0015631)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		CTGGCCTTGGGGTCACCATGG	0.592																																																	0													142.0	113.0	123.0					16																	67424948		2198	4300	6498	SO:0001583	missense	51673			BC000691	CCDS10835.1	16q22.1	2008-02-05			ENSG00000159713	ENSG00000159713			24162	protein-coding gene	gene with protein product						15590652, 17105200	Standard	XM_005255979		Approved	CGI-38, p25gamma, p20	uc002etb.3	Q9BW30	OTTHUMG00000137516	ENST00000564104.1:c.67C>T	16.37:g.67424948G>A	ENSP00000462435:p.Pro23Ser	Somatic		WXS	SOLID	Phase_I	Q49AH9|Q9Y326|Q9Y6H0	Missense_Mutation	SNP	ENST00000564104.1	37	CCDS10835.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.360905	0.24684	.	.	ENSG00000159713	ENST00000393957;ENST00000290942	T;T	0.42513	0.97;0.97	5.03	4.02	0.46733	EF-hand-like domain (1);	0.056739	0.64402	D	0.000002	T	0.14098	0.0341	N	0.00926	-1.1	0.44890	D	0.9979	B	0.02656	0.0	B	0.06405	0.002	T	0.15492	-1.0435	10	0.15499	T	0.54	-25.6026	10.4793	0.44684	0.0:0.0:0.6645:0.3354	.	23	Q9BW30	TPPP3_HUMAN	S	23	ENSP00000377529:P23S;ENSP00000290942:P23S	ENSP00000290942:P23S	P	-	1	0	TPPP3	65982449	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.172000	0.50832	2.619000	0.88677	0.491000	0.48974	CCC		0.592	TPPP3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421787.2		NM_015964	
TXNL1	9352	hgsc.bcm.edu	37	18	54281810	54281810	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr18:54281810C>A	ENST00000217515.6	-	6	784	c.580G>T	c.(580-582)Gta>Tta	p.V194L	TXNL1_ENST00000590954.1_Missense_Mutation_p.V194L|TXNL1_ENST00000540155.1_Missense_Mutation_p.V71L	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	194	PITH. {ECO:0000255|PROSITE- ProRule:PRU00864}.				cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		AAAATTTTTACATATTTAGGG	0.348																																																	0													74.0	71.0	72.0					18																	54281810		2203	4300	6503	SO:0001583	missense	9352			AF003938	CCDS11961.1	18q21.31	2011-01-17	2004-05-06	2004-05-07	ENSG00000091164	ENSG00000091164			12436	protein-coding gene	gene with protein product	"""thioredoxin-like, 32kD"""	603049	"""thioredoxin-like, 32kDa"""	TXNL		9473519, 9668102	Standard	NM_004786		Approved	Txl, TRP32	uc002lgg.3	O43396	OTTHUMG00000132722	ENST00000217515.6:c.580G>T	18.37:g.54281810C>A	ENSP00000217515:p.Val194Leu	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000217515.6	37	CCDS11961.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714875	0.48622	.	.	ENSG00000091164	ENST00000217515;ENST00000540155	T	0.19394	2.15	5.51	4.45	0.53987	Proteasome-interacting thioredoxin-like domain, C-terminal (2);Galactose-binding domain-like (1);	0.112810	0.64402	D	0.000017	T	0.17238	0.0414	L	0.33753	1.03	0.54753	D	0.99998	B;B	0.06786	0.001;0.0	B;B	0.20577	0.03;0.008	T	0.03597	-1.1021	10	0.31617	T	0.26	.	13.2017	0.59772	0.0:0.8749:0.0:0.1251	.	194;194	B2R960;O43396	.;TXNL1_HUMAN	L	194;71	ENSP00000217515:V194L	ENSP00000217515:V194L	V	-	1	0	TXNL1	52432808	0.934000	0.31675	1.000000	0.80357	0.998000	0.95712	1.792000	0.38754	2.574000	0.86865	0.650000	0.86243	GTA		0.348	TXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256064.2			
USH2A	7399	hgsc.bcm.edu;ucsc.edu	37	1	216061915	216061915	+	Silent	SNP	T	T	C			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr1:216061915T>C	ENST00000307340.3	-	41	8462	c.8076A>G	c.(8074-8076)ccA>ccG	p.P2692P	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000366943.2_Silent_p.P2692P	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2692	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTTTGTCCATGGGCTAAGAG	0.468										HNSCC(13;0.011)																																							0													93.0	91.0	92.0					1																	216061915		2203	4300	6503	SO:0001819	synonymous_variant	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8076A>G	1.37:g.216061915T>C		Somatic		WXS	SOLID	Phase_I	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																				0.468	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1		NM_007123	
VPS13C	54832	hgsc.bcm.edu	37	15	62243164	62243164	+	Silent	SNP	G	G	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr15:62243164G>A	ENST00000261517.5	-	40	4589	c.4516C>T	c.(4516-4518)Ctg>Ttg	p.L1506L	VPS13C_ENST00000395896.4_Silent_p.L1506L|VPS13C_ENST00000395898.3_Silent_p.L1463L|VPS13C_ENST00000249837.3_Silent_p.L1463L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AACATTTTCAGAAGGGGTTCG	0.289																																																	0													45.0	45.0	45.0					15																	62243164		2202	4294	6496	SO:0001819	synonymous_variant	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.4516C>T	15.37:g.62243164G>A		Somatic		WXS	SOLID	Phase_I		Silent	SNP	ENST00000261517.5	37	CCDS32257.1																																																																																				0.289	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1		NM_017684	
WHSC1L1	54904	hgsc.bcm.edu;ucsc.edu	37	8	38205403	38205403	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr8:38205403G>T	ENST00000317025.8	-	2	804	c.287C>A	c.(286-288)tCa>tAa	p.S96*	WHSC1L1_ENST00000433384.2_Nonsense_Mutation_p.S96*|WHSC1L1_ENST00000527502.1_Nonsense_Mutation_p.S96*|WHSC1L1_ENST00000316985.3_Nonsense_Mutation_p.S96*	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	96					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GCCATTGGCTGACCCATTAGG	0.393			T	NUP98	AML																																			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0													200.0	188.0	192.0					8																	38205403		2203	4300	6503	SO:0001587	stop_gained	54904			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.287C>A	8.37:g.38205403G>T	ENSP00000313983:p.Ser96*	Somatic		WXS	SOLID	Phase_I	B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Nonsense_Mutation	SNP	ENST00000317025.8	37	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	G	38	7.150770	0.98096	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000527502;ENST00000316985;ENST00000529223	.	.	.	5.69	5.69	0.88448	.	0.000000	0.40064	U	0.001188	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8068	0.96534	0.0:0.0:1.0:0.0	.	.	.	.	X	96	.	ENSP00000313410:S96X	S	-	2	0	WHSC1L1	38324560	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.415000	0.97375	2.658000	0.90341	0.655000	0.94253	TCA		0.393	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3		NM_023034	
ZC3H6	376940	hgsc.bcm.edu;ucsc.edu	37	2	113067654	113067654	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr2:113067654G>A	ENST00000409871.1	+	4	930	c.529G>A	c.(529-531)Gct>Act	p.A177T	ZC3H6_ENST00000343936.4_Missense_Mutation_p.A177T	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	177							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						ATACAGGCAAGCTAAAGAAAC	0.373																																																	0													79.0	74.0	75.0					2																	113067654		1852	4100	5952	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.529G>A	2.37:g.113067654G>A	ENSP00000386764:p.Ala177Thr	Somatic		WXS	SOLID	Phase_I	A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048445	0.75846	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.21031	2.03;2.03	5.86	0.481	0.16809	.	2.518930	0.01712	N	0.027760	T	0.34048	0.0884	M	0.74647	2.275	0.33006	D	0.526947	P	0.50819	0.939	P	0.47744	0.556	T	0.33111	-0.9881	10	0.56958	D	0.05	-1.3108	7.0719	0.25183	0.1276:0.0:0.4985:0.3739	.	177	P61129	ZC3H6_HUMAN	T	177;177;154	ENSP00000386764:A177T;ENSP00000340298:A177T	ENSP00000340298:A177T	A	+	1	0	ZC3H6	112784125	1.000000	0.71417	0.957000	0.39632	0.921000	0.55340	2.213000	0.42844	0.061000	0.16311	-0.291000	0.09656	GCT		0.373	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1		NM_198581	
ZNF438	220929	hgsc.bcm.edu;ucsc.edu	37	10	31137593	31137593	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr10:31137593C>A	ENST00000361310.3	-	6	2070	c.1741G>T	c.(1741-1743)Gtc>Ttc	p.V581F	ZNF438_ENST00000442986.1_Missense_Mutation_p.V581F|ZNF438_ENST00000452305.1_Missense_Mutation_p.V571F|ZNF438_ENST00000444692.2_Missense_Mutation_p.V571F|ZNF438_ENST00000538351.2_Missense_Mutation_p.V532F|ZNF438_ENST00000331737.6_Missense_Mutation_p.V571F|ZNF438_ENST00000436087.2_Missense_Mutation_p.V581F|ZNF438_ENST00000413025.1_Missense_Mutation_p.V581F|ZNF438_ENST00000375311.1_Missense_Mutation_p.V145F			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	581					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CCAAAATAGACTCGGATGTGG	0.478																																																	0													134.0	125.0	128.0					10																	31137593		2203	4300	6503	SO:0001583	missense	220929			AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1741G>T	10.37:g.31137593C>A	ENSP00000354663:p.Val581Phe	Somatic		WXS	SOLID	Phase_I	A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281386	0.80692	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896;ENST00000375311	T;T;T;T;T;T;T;T;T	0.10763	2.84;2.84;2.84;2.84;2.84;2.84;2.84;2.84;2.84	5.24	4.34	0.51931	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.056368	0.64402	D	0.000001	T	0.29684	0.0741	M	0.72894	2.215	0.54753	D	0.999987	D;D	0.89917	0.999;1.0	D;D	0.69824	0.925;0.966	T	0.01670	-1.1299	10	0.44086	T	0.13	-19.416	12.9016	0.58128	0.0:0.9208:0.0:0.0792	.	581;571	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	F	571;581;581;581;581;571;571;532;300;145	ENSP00000333571:V571F;ENSP00000354663:V581F;ENSP00000406934:V581F;ENSP00000412363:V581F;ENSP00000387546:V581F;ENSP00000413060:V571F;ENSP00000410898:V571F;ENSP00000445461:V532F;ENSP00000364460:V145F	ENSP00000333571:V571F	V	-	1	0	ZNF438	31177599	1.000000	0.71417	0.963000	0.40424	0.977000	0.68977	5.471000	0.66762	1.202000	0.43218	0.467000	0.42956	GTC		0.478	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1		NM_182755	
ZNF532	55205	hgsc.bcm.edu;ucsc.edu	37	18	56585627	56585627	+	Silent	SNP	C	C	T			TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr18:56585627C>T	ENST00000336078.4	+	4	884	c.108C>T	c.(106-108)gaC>gaT	p.D36D	ZNF532_ENST00000589288.1_Silent_p.D36D|ZNF532_ENST00000591808.1_Silent_p.D36D|ZNF532_ENST00000591230.1_Silent_p.D36D|ZNF532_ENST00000591083.1_Silent_p.D36D	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	36					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GACACGATGACCATGAAAGCC	0.498																																																	0													101.0	82.0	88.0					18																	56585627		2203	4300	6503	SO:0001819	synonymous_variant	55205			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.108C>T	18.37:g.56585627C>T		Somatic		WXS	SOLID	Phase_I	Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	ENST00000336078.4	37	CCDS11969.1																																																																																				0.498	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1		NM_018181	
ZNF778	197320	hgsc.bcm.edu	37	16	89294595	89294595	+	Silent	SNP	C	C	T	rs74466939	byFrequency	TCGA-B0-4839-01A-01D-1373-10	TCGA-B0-4839-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a957c17e-71ed-451a-aad9-a36e82313b3c	63f7be0e-4e73-4ed9-bdc1-2bacda375a40	g.chr16:89294595C>T	ENST00000433976.2	+	6	2147	c.1815C>T	c.(1813-1815)atC>atT	p.I605I	ZNF778_ENST00000306502.6_Silent_p.I563I|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	605					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		CACACCTTATCGTGCACATAA	0.473													C|||	813	0.16234	0.1248	0.2651	5008	,	,		22985	0.1746		0.0815	False		,,,				2504	0.2106																0								C	,	557,3831	227.8+/-242.9	39,479,1676	92.0	96.0	95.0		1899,1815	-1.7	0.0	16	dbSNP_131	95	860,7738	190.1+/-236.7	45,770,3484	no	coding-synonymous,coding-synonymous	ZNF778	NM_001201407.1,NM_182531.3	,	84,1249,5160	TT,TC,CC		10.0023,12.6937,10.9118	,	633/758,605/730	89294595	1417,11569	2194	4299	6493	SO:0001819	synonymous_variant	197320			AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"""Zinc fingers, C2H2-type"", ""-"""	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.1815C>T	16.37:g.89294595C>T		Somatic		WXS	SOLID	Phase_I	Q08AG0	Silent	SNP	ENST00000433976.2	37	CCDS45550.1																																																																																				0.473	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1		NM_182531	
