#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
ASIC1	41	hgsc.bcm.edu;ucsc.edu	37	12	50472709	50472709	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr12:50472709G>T	ENST00000447966.2	+	7	1226	c.997G>T	c.(997-999)Gat>Tat	p.D333Y	ASIC1_ENST00000228468.4_Missense_Mutation_p.D333Y|ASIC1_ENST00000552438.1_Missense_Mutation_p.D367Y	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	333					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	CTCTGTAGGGGATGCCCCATA	0.552																																																	0													215.0	212.0	213.0					12																	50472709		2203	4300	6503	SO:0001583	missense	0			U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.997G>T	12.37:g.50472709G>T	ENSP00000400228:p.Asp333Tyr	Somatic		WXS	SOLID	Phase_I	A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	ENST00000447966.2	37	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230485	0.79688	.	.	ENSG00000110881	ENST00000228468;ENST00000447966;ENST00000552438	T;T;T	0.66460	-0.21;-0.21;-0.21	3.63	3.63	0.41609	.	0.061015	0.64402	D	0.000008	T	0.81936	0.4928	M	0.87682	2.9	0.80722	D	1	P;D	0.57571	0.932;0.98	P;P	0.61592	0.857;0.891	D	0.86517	0.1813	10	0.87932	D	0	-24.006	16.1952	0.82023	0.0:0.0:1.0:0.0	.	333;333	P78348;P78348-1	ACCN2_HUMAN;.	Y	333;333;367	ENSP00000228468:D333Y;ENSP00000400228:D333Y;ENSP00000450247:D367Y	ENSP00000228468:D333Y	D	+	1	0	ACCN2	48758976	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	3.264000	0.51553	2.331000	0.79229	0.462000	0.41574	GAT		0.552	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2		NM_020039	
PXYLP1	92370	hgsc.bcm.edu;ucsc.edu	37	3	141011927	141011927	+	Silent	SNP	T	T	C			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr3:141011927T>C	ENST00000286353.4	+	6	1460	c.1323T>C	c.(1321-1323)cgT>cgC	p.R441R	ACPL2_ENST00000504264.1_Silent_p.R424R|ACPL2_ENST00000508812.1_Silent_p.R432R|ACPL2_ENST00000393010.2_Silent_p.R441R|ACPL2_ENST00000502783.1_Silent_p.R403R|ACPL2_ENST00000393007.1_Silent_p.R425R|RP11-438D8.2_ENST00000507698.1_RNA	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		441						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						ACCACAAGCGTTCTCCCAAGC	0.493																																																	0													97.0	94.0	95.0					3																	141011927		2203	4300	6503	SO:0001819	synonymous_variant	92370																														ENST00000286353.4:c.1323T>C	3.37:g.141011927T>C		Somatic		WXS	SOLID	Phase_I	D3DNF5|Q49AJ2|W0TR04	Silent	SNP	ENST00000286353.4	37	CCDS3116.1	.	.	.	.	.	.	.	.	.	.	T	7.590	0.670579	0.14776	.	.	ENSG00000155893	ENST00000332228	.	.	.	5.72	-2.11	0.07187	.	.	.	.	.	T	0.14570	0.0352	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25187	-1.0139	5	0.15952	T	0.53	.	1.711	0.02892	0.1217:0.2723:0.1374:0.4685	.	.	.	.	A	237	.	ENSP00000327587:V237A	V	+	2	0	ACPL2	142494617	0.002000	0.14202	0.005000	0.12908	0.957000	0.61999	0.004000	0.13106	-0.620000	0.05641	0.533000	0.62120	GTT		0.493	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2			
ADCY8	114	hgsc.bcm.edu;ucsc.edu	37	8	131796014	131796014	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr8:131796014G>T	ENST00000286355.5	-	17	5283	c.3191C>A	c.(3190-3192)gCt>gAt	p.A1064D	ADCY8_ENST00000377928.3_Missense_Mutation_p.A933D	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1064					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGAGAAGTCAGCCAGAGCACA	0.453										HNSCC(32;0.087)																																							0													154.0	139.0	144.0					8																	131796014		2203	4300	6503	SO:0001583	missense	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3191C>A	8.37:g.131796014G>T	ENSP00000286355:p.Ala1064Asp	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000286355.5	37	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419565	0.83559	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.33865	1.39;1.39	5.4	5.4	0.78164	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.050707	0.85682	D	0.000000	T	0.72534	0.3472	H	0.95079	3.62	0.41036	D	0.985192	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.979	T	0.81669	-0.0828	10	0.87932	D	0	.	18.539	0.91020	0.0:0.0:1.0:0.0	.	933;1064	E7EVL1;P40145	.;ADCY8_HUMAN	D	1064;933	ENSP00000286355:A1064D;ENSP00000367161:A933D	ENSP00000286355:A1064D	A	-	2	0	ADCY8	131865196	1.000000	0.71417	0.994000	0.49952	0.645000	0.38454	5.713000	0.68415	2.681000	0.91329	0.655000	0.94253	GCT		0.453	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			
ATF5	22809	hgsc.bcm.edu	37	19	50435817	50435817	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr19:50435817A>T	ENST00000423777.2	+	3	694	c.317A>T	c.(316-318)aAg>aTg	p.K106M	ATF5_ENST00000595125.1_Missense_Mutation_p.K106M|CTC-326K19.6_ENST00000451973.1_Intron|NUP62_ENST00000352066.3_5'Flank|NUP62_ENST00000422090.2_5'Flank|MIR4751_ENST00000578027.1_RNA	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	106					multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|olfactory bulb interneuron development (GO:0021891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription corepressor activity (GO:0003714)			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	Pseudoephedrine(DB00852)	TCCCTCCTCAAGAAGGAGCTG	0.647																																					GBM(48;768 989 9196 9511 26329)												0													18.0	16.0	17.0					19																	50435817		2199	4280	6479	SO:0001583	missense	22809			AF101388	CCDS12789.1	19q13.33	2013-09-20			ENSG00000169136	ENSG00000169136		"""basic leucine zipper proteins"""	790	protein-coding gene	gene with protein product		606398				10373550	Standard	NM_012068		Approved		uc002prd.3	Q9Y2D1	OTTHUMG00000183065	ENST00000423777.2:c.317A>T	19.37:g.50435817A>T	ENSP00000396954:p.Lys106Met	Somatic		WXS	SOLID	Phase_I	B3KND3|Q9BSA1|Q9UNQ3	Missense_Mutation	SNP	ENST00000423777.2	37	CCDS12789.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.327566	0.60743	.	.	ENSG00000169136	ENST00000423777	T	0.51325	0.71	3.73	2.69	0.31865	.	0.069083	0.56097	D	0.000026	T	0.38026	0.1025	L	0.46157	1.445	0.42217	D	0.991834	P	0.50617	0.937	B	0.42422	0.387	T	0.13415	-1.0510	10	0.44086	T	0.13	-12.92	7.4952	0.27485	0.8073:0.0:0.0:0.1927	.	106	Q9Y2D1	ATF5_HUMAN	M	106	ENSP00000396954:K106M	ENSP00000396954:K106M	K	+	2	0	ATF5	55127629	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	5.936000	0.70153	0.477000	0.27464	0.368000	0.22195	AAG		0.647	ATF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464915.2			
BBS7	55212	hgsc.bcm.edu;ucsc.edu	37	4	122776665	122776665	+	Missense_Mutation	SNP	C	C	T	rs373658912		TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr4:122776665C>T	ENST00000264499.4	-	6	763	c.580G>A	c.(580-582)Gca>Aca	p.A194T	BBS7_ENST00000506636.1_Missense_Mutation_p.A194T	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	194					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTGTGTAGTGCTAAGACAGTA	0.343									Bardet-Biedl syndrome																																								0								C	THR/ALA,THR/ALA	0,4406		0,0,2203	127.0	128.0	128.0		580,580	5.1	1.0	4		128	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	BBS7	NM_018190.3,NM_176824.2	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	194/673,194/716	122776665	1,13005	2203	4300	6503	SO:0001583	missense	55212	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.580G>A	4.37:g.122776665C>T	ENSP00000264499:p.Ala194Thr	Somatic		WXS	SOLID	Phase_I	Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215168	0.58452	0.0	1.16E-4	ENSG00000138686	ENST00000264499;ENST00000506636	D;D	0.81821	-1.54;-1.54	5.08	5.08	0.68730	WD40 repeat-like-containing domain (1);	0.121440	0.56097	D	0.000036	T	0.78892	0.4355	M	0.64997	1.995	0.53005	D	0.99996	B	0.21821	0.061	B	0.23419	0.046	T	0.74309	-0.3707	10	0.22706	T	0.39	-9.14	17.4513	0.87593	0.0:1.0:0.0:0.0	.	194	Q8IWZ6	BBS7_HUMAN	T	194	ENSP00000264499:A194T;ENSP00000423626:A194T	ENSP00000264499:A194T	A	-	1	0	BBS7	122996115	1.000000	0.71417	0.980000	0.43619	0.993000	0.82548	5.240000	0.65378	2.358000	0.79984	0.650000	0.86243	GCA		0.343	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			
BOC	91653	hgsc.bcm.edu	37	3	113002344	113002344	+	Missense_Mutation	SNP	C	C	T	rs147067616		TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr3:113002344C>T	ENST00000495514.1	+	16	3222	c.2518C>T	c.(2518-2520)Ccg>Tcg	p.P840S	BOC_ENST00000355385.3_Missense_Mutation_p.P840S|BOC_ENST00000273395.4_Missense_Mutation_p.P841S			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	840					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CATAGAGCGGCCGGTGGGCAC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		15709	0.0		0.001	False		,,,				2504	0.0																0								C	SER/PRO	0,4406		0,0,2203	80.0	89.0	86.0		2518	5.8	0.9	3	dbSNP_134	86	4,8594	3.7+/-12.6	0,4,4295	yes	missense	BOC	NM_033254.2	74	0,4,6498	TT,TC,CC		0.0465,0.0,0.0308	benign	840/1115	113002344	4,13000	2203	4299	6502	SO:0001583	missense	91653			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.2518C>T	3.37:g.113002344C>T	ENSP00000418663:p.Pro840Ser	Somatic		WXS	SOLID	Phase_I	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	CCDS2971.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	8.235	0.805475	0.16467	0.0	4.65E-4	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.62105	0.05;0.06;0.05	5.85	5.85	0.93711	.	0.220829	0.36519	N	0.002551	T	0.58395	0.2119	L	0.35414	1.06	0.37154	D	0.902281	P;B;B	0.49559	0.925;0.046;0.027	P;B;B	0.47162	0.54;0.059;0.027	T	0.55347	-0.8155	10	0.11182	T	0.66	.	20.1577	0.98120	0.0:1.0:0.0:0.0	.	657;841;840	Q9BWV1-2;Q9BWV1-3;Q9BWV1	.;.;BOC_HUMAN	S	840;841;840	ENSP00000418663:P840S;ENSP00000273395:P841S;ENSP00000347546:P840S	ENSP00000273395:P841S	P	+	1	0	BOC	114485034	1.000000	0.71417	0.925000	0.36789	0.131000	0.20780	2.721000	0.47260	2.767000	0.95098	0.655000	0.94253	CCG		0.622	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3		NM_033254	
BTN1A1	696	hgsc.bcm.edu;ucsc.edu	37	6	26505216	26505216	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr6:26505216G>A	ENST00000244513.6	+	3	557	c.491G>A	c.(490-492)tGc>tAc	p.C164Y		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	164	Ig-like V-type 2.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TGTCTGGAGTGCACCTCAGTG	0.488																																																	0													81.0	78.0	79.0					6																	26505216		2203	4300	6503	SO:0001583	missense	696			U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.491G>A	6.37:g.26505216G>A	ENSP00000244513:p.Cys164Tyr	Somatic		WXS	SOLID	Phase_I	Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767995	0.69878	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	D	0.99445	-5.91	5.63	5.63	0.86233	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000008	D	0.99566	0.9844	M	0.88906	2.99	0.46044	D	0.998832	D	0.76494	0.999	D	0.77557	0.99	D	0.98235	1.0485	10	0.87932	D	0	.	15.1654	0.72821	0.0:0.0:1.0:0.0	.	164	Q13410	BT1A1_HUMAN	Y	164	ENSP00000244513:C164Y	ENSP00000244513:C164Y	C	+	2	0	BTN1A1	26613195	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	5.702000	0.68332	2.652000	0.90054	0.655000	0.94253	TGC		0.488	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1		NM_001732	
CNTROB	116840	hgsc.bcm.edu;ucsc.edu	37	17	7839782	7839782	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr17:7839782G>T	ENST00000563694.1	+	5	1618	c.693G>T	c.(691-693)atG>atT	p.M231I	CNTROB_ENST00000565740.1_Missense_Mutation_p.M231I|CNTROB_ENST00000380255.3_Missense_Mutation_p.M231I|CNTROB_ENST00000380262.3_Missense_Mutation_p.M231I	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	231					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				AAGATACCATGATTGAACAAC	0.483																																																	0													96.0	96.0	96.0					17																	7839782		2203	4300	6503	SO:0001583	missense	116840			AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.693G>T	17.37:g.7839782G>T	ENSP00000456335:p.Met231Ile	Somatic		WXS	SOLID	Phase_I	A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371197	0.82573	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	T;T	0.75154	-0.91;0.63	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.79482	0.4453	L	0.27053	0.805	0.42732	D	0.993719	P;D;D	0.61080	0.954;0.989;0.989	D;D;D	0.72982	0.943;0.979;0.979	T	0.78917	-0.2015	10	0.41790	T	0.15	-20.7617	18.6417	0.91398	0.0:0.0:1.0:0.0	.	231;231;231	Q8N137-3;Q8N137;Q8N137-2	.;CNTRB_HUMAN;.	I	231	ENSP00000369614:M231I;ENSP00000369605:M231I	ENSP00000369605:M231I	M	+	3	0	CNTROB	7780507	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.602000	0.74141	2.775000	0.95449	0.655000	0.94253	ATG		0.483	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1		NM_053051	
CRISPLD1	83690	hgsc.bcm.edu	37	8	75924705	75924705	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr8:75924705G>A	ENST00000262207.4	+	3	764	c.296G>A	c.(295-297)tGg>tAg	p.W99*	CRISPLD1_ENST00000517786.1_5'UTR|CRISPLD1_ENST00000523524.1_5'UTR|CRISPLD1_ENST00000519798.1_3'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	99	SCP.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			GCAGAATCCTGGGCTGAAAGT	0.443																																																	0													161.0	147.0	152.0					8																	75924705		2203	4300	6503	SO:0001587	stop_gained	83690			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.296G>A	8.37:g.75924705G>A	ENSP00000262207:p.Trp99*	Somatic		WXS	SOLID	Phase_I	B2RA60|B7Z929	Nonsense_Mutation	SNP	ENST00000262207.4	37	CCDS6219.1	.	.	.	.	.	.	.	.	.	.	G	38	6.661004	0.97743	.	.	ENSG00000121005	ENST00000262207;ENST00000520277	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9586	0.92670	0.0:0.0:1.0:0.0	.	.	.	.	X	99	.	ENSP00000262207:W99X	W	+	2	0	CRISPLD1	76087260	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	9.193000	0.94954	2.705000	0.92388	0.557000	0.71058	TGG		0.443	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1		NM_031461	
CTCF	10664	hgsc.bcm.edu;ucsc.edu	37	16	67644949	67644949	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr16:67644949C>T	ENST00000264010.4	+	3	658	c.214C>T	c.(214-216)Cag>Tag	p.Q72*	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	72					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q72*(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CACCCTTCTTCAGATGAAGAC	0.512																																					Colon(175;1200 1966 6945 23069 27405)												1	Substitution - Nonsense(1)	endometrium(1)											96.0	93.0	94.0					16																	67644949		2198	4300	6498	SO:0001587	stop_gained	10664			U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.214C>T	16.37:g.67644949C>T	ENSP00000264010:p.Gln72*	Somatic		WXS	SOLID	Phase_I	B5MC38|Q53XI7|Q59EL8	Nonsense_Mutation	SNP	ENST00000264010.4	37	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	C	37	6.330849	0.97480	.	.	ENSG00000102974	ENST00000264010	.	.	.	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-3.1266	18.8924	0.92410	0.0:1.0:0.0:0.0	.	.	.	.	X	72	.	ENSP00000264010:Q72X	Q	+	1	0	CTCF	66202450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	2.696000	0.92011	0.655000	0.94253	CAG		0.512	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2		NM_006565	
DCN	1634	hgsc.bcm.edu;ucsc.edu	37	12	91572254	91572254	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr12:91572254C>A	ENST00000052754.5	-	2	577	c.76G>T	c.(76-78)Gac>Tac	p.D26Y	DCN_ENST00000303320.3_Missense_Mutation_p.D26Y|DCN_ENST00000550099.1_Missense_Mutation_p.D26Y|DCN_ENST00000546745.1_Missense_Mutation_p.D26Y|DCN_ENST00000546370.1_Missense_Mutation_p.D26Y|DCN_ENST00000441303.2_Missense_Mutation_p.D26Y|DCN_ENST00000547568.2_Missense_Mutation_p.D26Y|DCN_ENST00000425043.1_Missense_Mutation_p.D26Y|DCN_ENST00000548768.1_5'Flank|DCN_ENST00000551354.1_Missense_Mutation_p.D26Y|DCN_ENST00000393155.1_Missense_Mutation_p.D26Y|DCN_ENST00000456569.2_Missense_Mutation_p.D26Y|DCN_ENST00000552962.1_Missense_Mutation_p.D26Y|DCN_ENST00000420120.2_Missense_Mutation_p.D26Y|DCN_ENST00000228329.5_Missense_Mutation_p.D26Y	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	26					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						AGCATAAAGTCAAATAAGCCT	0.502											OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													95.0	97.0	96.0					12																	91572254		2203	4300	6503	SO:0001583	missense	1634			AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.76G>T	12.37:g.91572254C>A	ENSP00000052754:p.Asp26Tyr	Somatic	1283	WXS	SOLID	Phase_I	Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	CCDS9039.1	.	.	.	.	.	.	.	.	.	.	C	32	5.150485	0.94645	.	.	ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000303320;ENST00000393155;ENST00000425043;ENST00000552962;ENST00000420120;ENST00000441303;ENST00000547568;ENST00000546391;ENST00000456569;ENST00000547937;ENST00000552145;ENST00000550563;ENST00000549513;ENST00000546370;ENST00000546745;ENST00000550099;ENST00000551354	T;D;T;T;T;T;D;T;T;T;T;T;T;T	0.86865	0.3;-2.18;-1.44;0.3;-0.15;0.3;-2.18;-1.44;-0.15;-0.25;-0.01;-0.09;-0.0;-0.98	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.94159	0.8126	M	0.81497	2.545	0.43798	D	0.996347	P;D;D;D;D	0.89917	0.79;1.0;1.0;1.0;1.0	B;D;D;D;D	0.91635	0.387;0.983;0.998;0.999;0.999	D	0.94044	0.7312	10	0.87932	D	0	.	20.2956	0.98549	0.0:1.0:0.0:0.0	.	26;26;26;26;26	P07585;P07585-5;P07585-4;P07585-3;P07585-2	PGS2_HUMAN;.;.;.;.	Y	26	ENSP00000052754:D26Y;ENSP00000228329:D26Y;ENSP00000302031:D26Y;ENSP00000376862:D26Y;ENSP00000401021:D26Y;ENSP00000447654:D26Y;ENSP00000413723:D26Y;ENSP00000399815:D26Y;ENSP00000447674:D26Y;ENSP00000446530:D26Y;ENSP00000449782:D26Y;ENSP00000447886:D26Y;ENSP00000449014:D26Y;ENSP00000449438:D26Y	ENSP00000052754:D26Y	D	-	1	0	DCN	90096385	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.261000	0.78400	2.805000	0.96524	0.460000	0.39030	GAC		0.502	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3		NM_133507	
ELL3	80237	hgsc.bcm.edu;ucsc.edu	37	15	44067734	44067734	+	Silent	SNP	C	C	T			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr15:44067734C>T	ENST00000319359.3	-	5	1199	c.558G>A	c.(556-558)caG>caA	p.Q186Q	ELL3_ENST00000497465.1_5'Flank|RP11-296A16.1_ENST00000417761.2_3'UTR|SERF2_ENST00000381359.1_5'Flank	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	186					DNA-templated transcription, elongation (GO:0006354)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial to mesenchymal transition (GO:0010717)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	enhancer binding (GO:0035326)			cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		TCACTTCCCACTGTGCCATGT	0.498											OREG0023092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													150.0	132.0	138.0					15																	44067734		2198	4298	6496	SO:0001819	synonymous_variant	80237			AF276512	CCDS10102.1	15q15.1	2008-02-05			ENSG00000128886	ENSG00000128886			23113	protein-coding gene	gene with protein product		609885				10882741	Standard	NM_025165		Approved	FLJ22637	uc001zsw.1	Q9HB65	OTTHUMG00000059936	ENST00000319359.3:c.558G>A	15.37:g.44067734C>T		Somatic	921	WXS	SOLID	Phase_I	B3KQ66|B3KX08|Q6I9Z7|Q9H634	Silent	SNP	ENST00000319359.3	37	CCDS10102.1																																																																																				0.498	ELL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133236.2		NM_025165	
EP400	57634	hgsc.bcm.edu	37	12	132471271	132471271	+	Silent	SNP	C	C	A			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr12:132471271C>A	ENST00000333577.4	+	7	2359	c.2250C>A	c.(2248-2250)ccC>ccA	p.P750P	EP400_ENST00000389561.2_Silent_p.P714P|EP400_ENST00000330386.6_Silent_p.P714P|EP400_ENST00000389562.2_Silent_p.P713P|EP400_ENST00000332482.4_Silent_p.P677P			Q96L91	EP400_HUMAN	E1A binding protein p400	750					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CATCTGCCCCCACCAAACCAC	0.532																																																	0													119.0	120.0	120.0					12																	132471271		2203	4300	6503	SO:0001819	synonymous_variant	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.2250C>A	12.37:g.132471271C>A		Somatic		WXS	SOLID	Phase_I	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37																																																																																					0.532	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015409	
EXO1	9156	hgsc.bcm.edu;ucsc.edu	37	1	242030291	242030291	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr1:242030291C>T	ENST00000366548.3	+	11	1794	c.1201C>T	c.(1201-1203)Cga>Tga	p.R401*	EXO1_ENST00000348581.5_Nonsense_Mutation_p.R401*|EXO1_ENST00000518483.1_Nonsense_Mutation_p.R401*	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	401	Interaction with MLH1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GGGAGTGGAACGAGTGATTAG	0.423								Editing and processing nucleases																																									0													91.0	83.0	86.0					1																	242030291		2203	4300	6503	SO:0001587	stop_gained	9156			AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1201C>T	1.37:g.242030291C>T	ENSP00000355506:p.Arg401*	Somatic		WXS	SOLID	Phase_I	O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Nonsense_Mutation	SNP	ENST00000366548.3	37	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	C	37	6.107999	0.97291	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	.	.	.	5.75	2.52	0.30459	.	0.368934	0.28803	N	0.014096	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.719	8.2762	0.31874	0.3475:0.5708:0.0:0.0817	.	.	.	.	X	401	.	ENSP00000311873:R401X	R	+	1	2	EXO1	240096914	0.286000	0.24305	0.636000	0.29352	0.206000	0.24218	0.956000	0.29202	0.737000	0.32582	0.655000	0.94253	CGA		0.423	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1		NM_006027	
FAM200A	221786	hgsc.bcm.edu;ucsc.edu	37	7	99144481	99144481	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr7:99144481A>G	ENST00000449309.1	-	2	1929	c.1550T>C	c.(1549-1551)tTa>tCa	p.L517S		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	517						integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						gaatggtagtaacagcaatat	0.313																																																	0													117.0	119.0	118.0					7																	99144481		1551	2679	4230	SO:0001583	missense	221786				CCDS5668.1	7q22.1	2010-02-22	2010-02-22	2010-02-22	ENSG00000221909	ENSG00000221909			25401	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 38"""	C7orf38		10607616	Standard	NM_145111		Approved	FLJ36794, DKFZp727G131	uc003ura.3	Q8TCP9	OTTHUMG00000156723	ENST00000449309.1:c.1550T>C	7.37:g.99144481A>G	ENSP00000411372:p.Leu517Ser	Somatic		WXS	SOLID	Phase_I	A4D293|A8K3V9|B2RD92|C9J6A8|D6W5T2|Q8N9P3	Missense_Mutation	SNP	ENST00000449309.1	37	CCDS5668.1	.	.	.	.	.	.	.	.	.	.	A	13.19	2.162402	0.38217	.	.	ENSG00000221909	ENST00000449309;ENST00000408938	T;T	0.54279	0.58;0.58	1.68	1.68	0.24146	.	0.317042	0.12785	U	0.439295	T	0.69269	0.3092	M	0.83603	2.65	0.22684	N	0.998856	D	0.89917	1.0	D	0.83275	0.996	T	0.54377	-0.8303	10	0.87932	D	0	.	5.4336	0.16466	1.0:0.0:0.0:0.0	.	517	Q8TCP9	F200A_HUMAN	S	517	ENSP00000411372:L517S;ENSP00000386191:L517S	ENSP00000386191:L517S	L	-	2	0	FAM200A	98982417	0.019000	0.18553	0.886000	0.34754	0.896000	0.52359	1.973000	0.40550	1.020000	0.39573	0.377000	0.23210	TTA		0.313	FAM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345467.1		NM_145111	
NXPE1	120400	hgsc.bcm.edu;ucsc.edu	37	11	114401131	114401131	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr11:114401131T>A	ENST00000424269.1	-	2	598	c.599A>T	c.(598-600)tAt>tTt	p.Y200F	NXPE1_ENST00000251921.2_Missense_Mutation_p.Y58F|NXPE1_ENST00000536271.1_5'Flank|NXPE1_ENST00000536312.1_Missense_Mutation_p.Y200F			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	200						extracellular region (GO:0005576)											AATTTTATCATAGCCTTGGTT	0.488																																																	0													90.0	91.0	91.0					11																	114401131		2201	4296	6497	SO:0001583	missense	0			BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.599A>T	11.37:g.114401131T>A	ENSP00000411690:p.Tyr200Phe	Somatic		WXS	SOLID	Phase_I	B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37		.	.	.	.	.	.	.	.	.	.	T	12.98	2.100610	0.37048	.	.	ENSG00000095110	ENST00000251921;ENST00000424269;ENST00000536312	T;T;T	0.44881	2.57;2.78;0.91	4.52	3.38	0.38709	.	0.120055	0.36268	N	0.002692	T	0.44244	0.1284	M	0.81239	2.535	0.21802	N	0.999535	B	0.30104	0.268	B	0.37888	0.26	T	0.36792	-0.9733	10	0.10377	T	0.69	.	8.7374	0.34537	0.0:0.0946:0.0:0.9054	.	200	F5H6W7	.	F	58;200;200	ENSP00000251921:Y58F;ENSP00000411690:Y200F;ENSP00000442984:Y200F	ENSP00000251921:Y58F	Y	-	2	0	FAM55A	113906341	0.026000	0.19158	0.407000	0.26434	0.937000	0.57800	2.236000	0.43052	0.827000	0.34685	0.533000	0.62120	TAT		0.488	NXPE1-201	KNOWN	basic	protein_coding	protein_coding			NM_152315	
FGR	2268	hgsc.bcm.edu;ucsc.edu	37	1	27941092	27941092	+	Silent	SNP	T	T	C			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr1:27941092T>C	ENST00000374005.3	-	11	1386	c.1098A>G	c.(1096-1098)gtA>gtG	p.V366V	FGR_ENST00000545953.1_Silent_p.V300V|FGR_ENST00000374004.1_Silent_p.V366V|FGR_ENST00000399173.1_Silent_p.V366V	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	366	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGCCCTCAGCTACCTGGGGGA	0.572																																																	0													80.0	67.0	71.0					1																	27941092		2203	4300	6503	SO:0001819	synonymous_variant	2268			BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"""SH2 domain containing"""	3697	protein-coding gene	gene with protein product		164940	"""Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog"", ""v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog"", ""feline Gardner-Rasheed sarcoma viral oncogene homolog"""	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.1098A>G	1.37:g.27941092T>C		Somatic		WXS	SOLID	Phase_I	D3DPL7|Q9UIQ3	Silent	SNP	ENST00000374005.3	37	CCDS305.1																																																																																				0.572	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1		NM_005248	
FCRL1	115350	hgsc.bcm.edu;ucsc.edu	37	1	157765910	157765910	+	Silent	SNP	C	C	T			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr1:157765910C>T	ENST00000368176.3	-	11	1336	c.1269G>A	c.(1267-1269)gtG>gtA	p.V423V	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Silent_p.V422V|FCRL1_ENST00000358292.3_3'UTR	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	423						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTTCATAGTCCACATCTGTAA	0.448																																					GBM(54;482 1003 11223 30131 35730)												0													189.0	160.0	170.0					1																	157765910		2203	4300	6503	SO:0001819	synonymous_variant	115350			BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.1269G>A	1.37:g.157765910C>T		Somatic		WXS	SOLID	Phase_I	B2RE05|Q8N759|Q8NDI0|Q96PJ6	Silent	SNP	ENST00000368176.3	37	CCDS1170.1																																																																																				0.448	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1		NM_052938	
GBA2	57704	hgsc.bcm.edu;ucsc.edu	37	9	35748456	35748456	+	Silent	SNP	A	A	T			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr9:35748456A>T	ENST00000378103.3	-	1	769	c.246T>A	c.(244-246)ccT>ccA	p.P82P	RGP1_ENST00000456972.2_5'Flank|GBA2_ENST00000378094.4_Silent_p.P82P|RGP1_ENST00000378078.4_5'Flank|GBA2_ENST00000545786.1_Silent_p.P82P	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	82					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGCCAAAGGGAGGCACCTGGT	0.512																																																	0													106.0	104.0	104.0					9																	35748456		2203	4300	6503	SO:0001819	synonymous_variant	57704			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.246T>A	9.37:g.35748456A>T		Somatic		WXS	SOLID	Phase_I	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Silent	SNP	ENST00000378103.3	37	CCDS6589.1																																																																																				0.512	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1		NM_020944	
GGNBP2	79893	hgsc.bcm.edu;ucsc.edu	37	17	34945653	34945653	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr17:34945653A>G	ENST00000304718.4	+	14	2222	c.1906A>G	c.(1906-1908)Act>Gct	p.T636A	DHRS11_ENST00000251312.5_5'Flank|DHRS11_ENST00000590554.1_5'Flank	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	636					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GTCTGAATGTACTTCAGATGA	0.348																																																	0													115.0	130.0	125.0					17																	34945653		2203	4300	6503	SO:0001583	missense	79893			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.1906A>G	17.37:g.34945653A>G	ENSP00000307617:p.Thr636Ala	Somatic		WXS	SOLID	Phase_I	B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.404336	0.25378	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.69	5.69	0.88448	.	0.187565	0.45867	D	0.000334	T	0.41534	0.1163	N	0.19112	0.55	0.80722	D	1	B	0.24368	0.102	B	0.24541	0.054	T	0.31475	-0.9942	9	0.30854	T	0.27	-3.0996	11.0927	0.48125	0.8619:0.0:0.0:0.138	.	636	Q9H3C7	GGNB2_HUMAN	A	636	.	ENSP00000307617:T636A	T	+	1	0	GGNBP2	32019766	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.442000	0.52900	2.173000	0.68751	0.454000	0.30748	ACT		0.348	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2		NM_024835	
GLS	2744	hgsc.bcm.edu;ucsc.edu	37	2	191796274	191796274	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr2:191796274C>A	ENST00000320717.3	+	14	1819	c.1561C>A	c.(1561-1563)Ctt>Att	p.L521I	GLS_ENST00000338435.4_Missense_Mutation_p.L521I|GLS_ENST00000409626.1_Missense_Mutation_p.L92I|GLS_ENST00000409428.1_Missense_Mutation_p.L26I|GLS_ENST00000409215.1_Missense_Mutation_p.L26I	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	521					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	TTTACAGGATCTTGTTTCTCT	0.338																																																	0													79.0	75.0	77.0					2																	191796274		2203	4295	6498	SO:0001583	missense	2744			AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"""Ankyrin repeat domain containing"""	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.1561C>A	2.37:g.191796274C>A	ENSP00000317379:p.Leu521Ile	Somatic		WXS	SOLID	Phase_I	Q9UL05|Q9UL06|Q9UL07|Q9UN40	Missense_Mutation	SNP	ENST00000320717.3	37	CCDS2308.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126716	0.77549	.	.	ENSG00000115419	ENST00000320717;ENST00000338435;ENST00000409626;ENST00000457316;ENST00000409428;ENST00000409215;ENST00000412247	T;T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24;0.24	5.74	5.74	0.90152	Beta-lactamase/transpeptidase-like (1);	0.000000	0.85682	D	0.000000	T	0.75539	0.3863	M	0.79011	2.435	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.99;0.999;0.995	D;D;D;D;D	0.85130	0.996;0.997;0.992;0.996;0.995	T	0.77773	-0.2462	10	0.72032	D	0.01	-19.2116	13.1646	0.59562	0.0:0.9273:0.0:0.0727	.	92;521;175;521;521	B7Z2P1;A8K132;Q68D38;O94925;O94925-3	.;.;.;GLSK_HUMAN;.	I	521;521;92;92;26;26;42	ENSP00000317379:L521I;ENSP00000340689:L521I;ENSP00000386417:L92I;ENSP00000395596:L92I;ENSP00000387177:L26I;ENSP00000387135:L26I;ENSP00000403329:L42I	ENSP00000317379:L521I	L	+	1	0	GLS	191504519	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.980000	0.56895	2.723000	0.93209	0.591000	0.81541	CTT		0.338	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2			
HELLS	3070	hgsc.bcm.edu;ucsc.edu	37	10	96354517	96354517	+	Silent	SNP	T	T	G			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr10:96354517T>G	ENST00000348459.5	+	19	2259	c.2154T>G	c.(2152-2154)gtT>gtG	p.V718V	HELLS_ENST00000239026.6_3'UTR|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000371332.4_Silent_p.V764V|HELLS_ENST00000394045.1_Silent_p.V620V|HELLS_ENST00000394036.1_3'UTR	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		AGCCAGTTGTTGTTTATCGCC	0.363																																																	0													119.0	107.0	111.0					10																	96354517		2203	4300	6503	SO:0001819	synonymous_variant	3070			AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.2154T>G	10.37:g.96354517T>G		Somatic		WXS	SOLID	Phase_I		Silent	SNP	ENST00000348459.5	37	CCDS7434.1																																																																																				0.363	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1		NM_018063	
HSPB2	3316	hgsc.bcm.edu	37	11	111784450	111784450	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr11:111784450T>A	ENST00000304298.3	+	2	968	c.380T>A	c.(379-381)gTc>gAc	p.V127D	CRYAB_ENST00000533280.1_5'Flank|CRYAB_ENST00000227251.3_5'Flank|CRYAB_ENST00000533475.1_5'UTR|CRYAB_ENST00000533971.1_5'Flank|CRYAB_ENST00000525823.1_5'Flank|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000531198.1_5'Flank|CRYAB_ENST00000526180.1_5'Flank|HSPB2_ENST00000537382.1_Missense_Mutation_p.V127D|HSPB2-C11orf52_ENST00000534100.1_Intron	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	127					positive regulation of catalytic activity (GO:0043085)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		CCTGCTGATGTCGACCCCTGG	0.622																																																	0													75.0	69.0	71.0					11																	111784450		2201	4297	6498	SO:0001583	missense	3316			U75898	CCDS8352.1	11q22-q23	2011-09-02	2002-08-29			ENSG00000170276		"""Heat shock proteins / HSPB"""	5247	protein-coding gene	gene with protein product		602179	"""heat shock 27kD protein 2"""			9344664, 9490724	Standard	NM_001541		Approved	Hs.78846, MKBP	uc001pmg.2	Q16082		ENST00000304298.3:c.380T>A	11.37:g.111784450T>A	ENSP00000302476:p.Val127Asp	Somatic		WXS	SOLID	Phase_I	Q6I9U7	Missense_Mutation	SNP	ENST00000304298.3	37	CCDS8352.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852417	0.71719	.	.	ENSG00000170276	ENST00000304298;ENST00000537382	D;D	0.94138	-3.36;-3.36	5.22	5.22	0.72569	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	0.000000	0.64402	D	0.000001	D	0.96914	0.8992	M	0.87900	2.915	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.97548	1.0090	10	0.66056	D	0.02	-21.9874	15.3944	0.74781	0.0:0.0:0.0:1.0	.	127	Q16082	HSPB2_HUMAN	D	127	ENSP00000302476:V127D;ENSP00000445585:V127D	ENSP00000302476:V127D	V	+	2	0	HSPB2	111289660	1.000000	0.71417	0.089000	0.20774	0.873000	0.50193	4.709000	0.61867	2.107000	0.64212	0.528000	0.53228	GTC		0.622	HSPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391669.1			
ITGA1	3672	hgsc.bcm.edu;ucsc.edu	37	5	52206160	52206160	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr5:52206160G>A	ENST00000282588.6	+	14	2226	c.1768G>A	c.(1768-1770)Gtg>Atg	p.V590M		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	590					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TAATGACATCGTGATAGGAGC	0.428																																																	0													87.0	89.0	88.0					5																	52206160		2203	4300	6503	SO:0001583	missense	3672			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1768G>A	5.37:g.52206160G>A	ENSP00000282588:p.Val590Met	Somatic		WXS	SOLID	Phase_I	B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	G	32	5.150063	0.94645	.	.	ENSG00000213949	ENST00000282588	T	0.71579	-0.58	6.02	6.02	0.97574	.	0.062492	0.64402	D	0.000003	D	0.88020	0.6325	M	0.90759	3.145	0.58432	D	0.999994	D	0.89917	1.0	D	0.79784	0.993	D	0.88963	0.3395	10	0.72032	D	0.01	.	20.547	0.99278	0.0:0.0:1.0:0.0	.	590	P56199	ITA1_HUMAN	M	590	ENSP00000282588:V590M	ENSP00000282588:V590M	V	+	1	0	ITGA1	52241917	1.000000	0.71417	0.982000	0.44146	0.995000	0.86356	9.367000	0.97148	2.850000	0.98022	0.650000	0.86243	GTG		0.428	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3		NM_181501	
TESPA1	9840	hgsc.bcm.edu;ucsc.edu	37	12	55356980	55356980	+	Silent	SNP	G	G	A			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr12:55356980G>A	ENST00000449076.1	-	9	834	c.702C>T	c.(700-702)ttC>ttT	p.F234F	TESPA1_ENST00000531122.1_Silent_p.F96F|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000532804.1_Silent_p.F96F|TESPA1_ENST00000524622.1_Silent_p.F96F|TESPA1_ENST00000316577.8_Silent_p.F234F	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	234					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											AGAGACAGAAGAAGGCATCAG	0.458																																																	0													75.0	79.0	78.0					12																	55356980		2012	4189	6201	SO:0001819	synonymous_variant	0			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.702C>T	12.37:g.55356980G>A		Somatic		WXS	SOLID	Phase_I	B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Silent	SNP	ENST00000449076.1	37	CCDS44913.1																																																																																				0.458	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1		NM_001098815	
CFAP97	57587	hgsc.bcm.edu;ucsc.edu	37	4	186096970	186096970	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr4:186096970C>G	ENST00000458385.2	-	3	1409	c.1290G>C	c.(1288-1290)aaG>aaC	p.K430N	KIAA1430_ENST00000296775.6_Missense_Mutation_p.K430N|KIAA1430_ENST00000502992.1_5'UTR|KIAA1430_ENST00000514798.1_Missense_Mutation_p.K430N	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		430										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		TTTGTTGTTCCTTCTGTCTGT	0.403																																																	0													168.0	160.0	163.0					4																	186096970		1864	4101	5965	SO:0001583	missense	57587																														ENST00000458385.2:c.1290G>C	4.37:g.186096970C>G	ENSP00000409964:p.Lys430Asn	Somatic		WXS	SOLID	Phase_I	B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Missense_Mutation	SNP	ENST00000458385.2	37	CCDS47168.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485922	0.44147	.	.	ENSG00000164323	ENST00000458385;ENST00000514798;ENST00000296775	T;T;T	0.51574	0.7;0.7;0.7	5.87	2.3	0.28687	.	0.369735	0.31323	N	0.007844	T	0.50222	0.1603	L	0.55481	1.735	0.30832	N	0.736643	B;D	0.54772	0.449;0.968	B;P	0.52386	0.177;0.697	T	0.53788	-0.8389	10	0.35671	T	0.21	-5.9228	10.4729	0.44648	0.0:0.6748:0.0:0.3252	.	430;430	Q9P2B7-2;Q9P2B7	.;K1430_HUMAN	N	430	ENSP00000409964:K430N;ENSP00000423312:K430N;ENSP00000296775:K430N	ENSP00000296775:K430N	K	-	3	2	KIAA1430	186333964	0.770000	0.28543	0.996000	0.52242	0.400000	0.30750	0.098000	0.15189	0.191000	0.20236	-0.150000	0.13652	AAG		0.403	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2			
KRT80	144501	hgsc.bcm.edu	37	12	52565297	52565297	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr12:52565297C>A	ENST00000394815.2	-	9	1341	c.1244G>T	c.(1243-1245)aGa>aTa	p.R415I	KRT80_ENST00000313234.5_3'UTR	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	415	Tail.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GAGGCCTGATCTGGAGGCAGC	0.547																																					GBM(178;2309 2916 15678 35873)												0													42.0	45.0	44.0					12																	52565297		2203	4300	6503	SO:0001583	missense	144501			BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"""-"", ""Intermediate filaments type II, keratins (basic)"""	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.1244G>T	12.37:g.52565297C>A	ENSP00000378292:p.Arg415Ile	Somatic		WXS	SOLID	Phase_I	Q6P1A5|Q7Z3Q0	Missense_Mutation	SNP	ENST00000394815.2	37	CCDS8821.2	.	.	.	.	.	.	.	.	.	.	c	13.09	2.133130	0.37630	.	.	ENSG00000167767	ENST00000394815	D	0.84070	-1.8	4.47	3.37	0.38596	.	0.189387	0.25738	N	0.028629	T	0.59865	0.2225	N	0.08118	0	0.36057	D	0.841201	B;P	0.43094	0.072;0.799	B;B	0.38755	0.032;0.281	T	0.60198	-0.7310	10	0.22706	T	0.39	.	3.4445	0.07476	0.0:0.1316:0.2371:0.6313	.	415;450	Q6KB66;Q6KB66-3	K2C80_HUMAN;.	I	415	ENSP00000378292:R415I	ENSP00000378292:R415I	R	-	2	0	KRT80	50851564	0.039000	0.19947	0.899000	0.35326	0.993000	0.82548	-0.056000	0.11787	0.934000	0.37316	0.651000	0.88453	AGA		0.547	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1		NM_182507	
DFNB59	494513	hgsc.bcm.edu;ucsc.edu	37	2	179320446	179320446	+	Intron	SNP	T	T	G			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr2:179320446T>G	ENST00000409117.3	+	4	763				DFNB59_ENST00000375129.4_Intron	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59						sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			CTACACACATTTGCTTAATTA	0.313																																																	0													25.0	21.0	22.0					2																	179320446		692	1590	2282	SO:0001627	intron_variant	100302152			BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.408-291T>G	2.37:g.179320446T>G		Somatic		WXS	SOLID	Phase_I	A0PK14|B9EJE2	RNA	SNP	ENST00000409117.3	37	CCDS42787.1																																																																																				0.313	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335160.1			
N6AMT2	221143	hgsc.bcm.edu;ucsc.edu	37	13	21306082	21306082	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr13:21306082C>T	ENST00000382758.1	-	4	453	c.406G>A	c.(406-408)Gac>Aac	p.D136N	N6AMT2_ENST00000382754.4_Missense_Mutation_p.D136N			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	136						extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATTACGATGTCAAAACTATGT	0.413																																																	0													132.0	125.0	127.0					13																	21306082		2203	4300	6503	SO:0001583	missense	221143			AK055408	CCDS9293.1	13q12.11	2006-12-14			ENSG00000150456	ENSG00000150456			27351	protein-coding gene	gene with protein product						12477932	Standard	NM_174928		Approved		uc001uno.1	Q8WVE0	OTTHUMG00000016519	ENST00000382758.1:c.406G>A	13.37:g.21306082C>T	ENSP00000372206:p.Asp136Asn	Somatic		WXS	SOLID	Phase_I	B5G4V1	Missense_Mutation	SNP	ENST00000382758.1	37	CCDS9293.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997038	0.74818	.	.	ENSG00000150456	ENST00000382758;ENST00000382754	T;T	0.34472	1.36;1.36	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.70298	0.3208	M	0.91038	3.17	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	T	0.75602	-0.3261	10	0.72032	D	0.01	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	136	Q8WVE0	N6MT2_HUMAN	N	136	ENSP00000372206:D136N;ENSP00000372202:D136N	ENSP00000372202:D136N	D	-	1	0	N6AMT2	20204082	1.000000	0.71417	0.881000	0.34555	0.039000	0.13416	7.425000	0.80255	2.832000	0.97577	0.655000	0.94253	GAC		0.413	N6AMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044083.1		NM_174928	
NANS	54187	hgsc.bcm.edu	37	9	100845161	100845161	+	Missense_Mutation	SNP	C	C	T	rs143794024		TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr9:100845161C>T	ENST00000210444.5	+	6	974	c.904C>T	c.(904-906)Ccg>Tcg	p.P302S	TRIM14_ENST00000478530.1_Intron|NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000375098.3_Intron	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	302	AFP-like. {ECO:0000255|PROSITE- ProRule:PRU00021}.				lipopolysaccharide biosynthetic process (GO:0009103)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	N-acetylneuraminate synthase activity (GO:0050462)|N-acylneuraminate cytidylyltransferase activity (GO:0008781)|N-acylneuraminate-9-phosphate synthase activity (GO:0047444)	p.P302S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				AGTGAAAATTCCGGAAGGCAC	0.468																																																	1	Substitution - Missense(1)	skin(1)											81.0	71.0	75.0					9																	100845161		2203	4300	6503	SO:0001583	missense	54187			AF161387	CCDS6733.1	9p24.1-p23	2008-07-31	2008-07-31		ENSG00000095380	ENSG00000095380			19237	protein-coding gene	gene with protein product	"""sialic acid synthase"""	605202				10749855	Standard	NM_018946		Approved	SAS	uc004ayc.3	Q9NR45	OTTHUMG00000020341	ENST00000210444.5:c.904C>T	9.37:g.100845161C>T	ENSP00000210444:p.Pro302Ser	Somatic		WXS	SOLID	Phase_I	B2RE98|Q8WUV9|Q9BWS6|Q9NVD4	Missense_Mutation	SNP	ENST00000210444.5	37	CCDS6733.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065687	0.55539	.	.	ENSG00000095380	ENST00000210444	T	0.41758	0.99	5.6	5.6	0.85130	Antifreeze-like/N-acetylneuraminic acid synthase C-terminal (3);SAF domain (2);	0.000000	0.85682	D	0.000000	T	0.43700	0.1259	M	0.64404	1.975	0.80722	D	1	B	0.26935	0.164	B	0.25759	0.063	T	0.23547	-1.0185	10	0.33940	T	0.23	-14.7213	17.4913	0.87704	0.0:1.0:0.0:0.0	.	302	Q9NR45	SIAS_HUMAN	S	302	ENSP00000210444:P302S	ENSP00000210444:P302S	P	+	1	0	NANS	99884982	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.757000	0.68766	2.822000	0.97130	0.650000	0.86243	CCG		0.468	NANS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053359.1		NM_018946	
NCAPD3	23310	hgsc.bcm.edu;ucsc.edu	37	11	134046230	134046230	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr11:134046230G>C	ENST00000534548.2	-	24	3137	c.3073C>G	c.(3073-3075)Ctg>Gtg	p.L1025V	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1025					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GAATCGATCAGAGTGCTGACA	0.458																																																	0													115.0	110.0	112.0					11																	134046230		2201	4297	6498	SO:0001583	missense	23310			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3073C>G	11.37:g.134046230G>C	ENSP00000433681:p.Leu1025Val	Somatic		WXS	SOLID	Phase_I	A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036835	0.35893	.	.	ENSG00000151503	ENST00000534548;ENST00000530396	T;T	0.73363	-0.74;-0.74	6.04	0.784	0.18578	Armadillo-like helical (1);Armadillo-type fold (1);	0.068604	0.64402	N	0.000013	T	0.68924	0.3054	M	0.66939	2.045	0.80722	D	1	B	0.23854	0.092	B	0.30029	0.11	T	0.60821	-0.7187	10	0.52906	T	0.07	-6.0811	7.126	0.25471	0.2211:0.3221:0.4568:0.0	.	1025	P42695	CNDD3_HUMAN	V	1025;61	ENSP00000433681:L1025V;ENSP00000435173:L61V	ENSP00000435173:L61V	L	-	1	2	NCAPD3	133551440	0.262000	0.24073	0.049000	0.19019	0.918000	0.54935	0.625000	0.24477	-0.084000	0.12595	-1.252000	0.01501	CTG		0.458	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2		NM_015261	
NIPA1	123606	hgsc.bcm.edu;ucsc.edu	37	15	23049093	23049095	+	In_Frame_Del	DEL	GAT	GAT	-	rs143840469		TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	GAT	GAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr15:23049093_23049095delGAT	ENST00000337435.4	-	5	748_750	c.724_726delATC	c.(724-726)atcdel	p.I242del	NIPA1_ENST00000538684.1_In_Frame_Del_p.I72del|NIPA1_ENST00000561183.1_In_Frame_Del_p.I167del|NIPA1_ENST00000437912.2_In_Frame_Del_p.I167del	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	242					cell death (GO:0008219)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		TGAACTGGACGATGATGCTGCAG	0.601																																																	0																																										SO:0001651	inframe_deletion	123606			BK001020	CCDS73691.1, CCDS73692.1	15q11.2	2006-10-06			ENSG00000170113	ENSG00000170113			17043	protein-coding gene	gene with protein product		608145	"""spastic paraplegia 6 (autosomal dominant)"""	SPG6		14508710	Standard	NM_144599		Approved	MGC35570	uc001yvc.3	Q7RTP0	OTTHUMG00000129099	ENST00000337435.4:c.724_726delATC	15.37:g.23049096_23049098delGAT	ENSP00000337452:p.Ile242del	Somatic		WXS	SOLID	Phase_I	B2RA76|Q5HYA9|Q7KZB0|Q86XW4	In_Frame_Del	DEL	ENST00000337435.4	37	CCDS10011.1																																																																																				0.601	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251135.2		NM_144599	
NLRP14	338323	hgsc.bcm.edu	37	11	7064163	7064163	+	Silent	SNP	C	C	G			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr11:7064163C>G	ENST00000299481.4	+	4	1252	c.906C>G	c.(904-906)tcC>tcG	p.S302S		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	302	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CTGAGGCATCCTTATTGGTGA	0.453																																																	0													77.0	74.0	75.0					11																	7064163		2201	4296	6497	SO:0001819	synonymous_variant	338323			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.906C>G	11.37:g.7064163C>G		Somatic		WXS	SOLID	Phase_I	Q7RTR6	Silent	SNP	ENST00000299481.4	37	CCDS7776.1																																																																																				0.453	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1		NM_176822	
OR4D10	390197	hgsc.bcm.edu	37	11	59244948	59244948	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr11:59244948G>A	ENST00000530162.1	+	1	103	c.46G>A	c.(46-48)Ggc>Agc	p.G16S		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TATTTTCCTTGGCCTGACCCA	0.413																																																	0													79.0	79.0	79.0					11																	59244948		1951	4141	6092	SO:0001583	missense	390197			AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.46G>A	11.37:g.59244948G>A	ENSP00000436424:p.Gly16Ser	Somatic		WXS	SOLID	Phase_I	B2RNH6	Silent	SNP	ENST00000530162.1	37	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415898	0.62511	.	.	ENSG00000254466	ENST00000530162	T	0.00653	5.96	4.2	3.28	0.37604	.	.	.	.	.	T	0.03095	0.0091	M	0.91663	3.23	0.09310	N	1	P	0.50369	0.934	P	0.53224	0.721	T	0.12041	-1.0563	9	0.87932	D	0	.	10.9817	0.47499	0.0953:0.0:0.9047:0.0	.	16	Q8NGI6	OR4DA_HUMAN	S	16	ENSP00000436424:G16S	ENSP00000436424:G16S	G	+	1	0	OR4D10	59001524	1.000000	0.71417	0.023000	0.16930	0.004000	0.04260	5.340000	0.65958	0.858000	0.35431	0.655000	0.94253	GGC		0.413	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1		NM_001004705	
PCNT	5116	hgsc.bcm.edu;ucsc.edu	37	21	47832897	47832897	+	Silent	SNP	C	C	T	rs144445891		TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr21:47832897C>T	ENST00000359568.5	+	29	6248	c.6141C>T	c.(6139-6141)gaC>gaT	p.D2047D	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2047					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTCTGGAGGACGGCGGCAAGG	0.657																																																	0								C		3,4403	6.2+/-15.9	0,3,2200	45.0	45.0	45.0		6141	-3.0	0.0	21	dbSNP_134	45	0,8600		0,0,4300	no	coding-synonymous	PCNT	NM_006031.5		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		2047/3337	47832897	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.6141C>T	21.37:g.47832897C>T		Somatic		WXS	SOLID	Phase_I	O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	CCDS33592.1																																																																																				0.657	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1		NM_006031	
PDE8A	5151	hgsc.bcm.edu;ucsc.edu	37	15	85643406	85643406	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr15:85643406G>A	ENST00000310298.4	+	12	1265	c.1013G>A	c.(1012-1014)tGt>tAt	p.C338Y	PDE8A_ENST00000394553.1_Missense_Mutation_p.C338Y|PDE8A_ENST00000557957.1_Missense_Mutation_p.C266Y|PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000339708.5_Missense_Mutation_p.C292Y			O60658	PDE8A_HUMAN	phosphodiesterase 8A	338					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	ATATCCGAATGTGTTCAGTCT	0.413																																																	0													66.0	70.0	68.0					15																	85643406		2203	4299	6502	SO:0001583	missense	5151			AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.1013G>A	15.37:g.85643406G>A	ENSP00000311453:p.Cys338Tyr	Somatic		WXS	SOLID	Phase_I	B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	G	9.355	1.066544	0.20067	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.69306	-0.39;-0.39;-0.39	4.53	1.49	0.22878	.	1.363460	0.04694	N	0.414726	T	0.50171	0.1600	L	0.44542	1.39	0.27527	N	0.951211	B;P	0.38642	0.159;0.641	B;B	0.34779	0.189;0.135	T	0.34428	-0.9829	10	0.02654	T	1	.	4.0676	0.09868	0.0914:0.16:0.5834:0.1652	.	292;338	O60658-2;O60658	.;PDE8A_HUMAN	Y	338;338;292	ENSP00000311453:C338Y;ENSP00000378056:C338Y;ENSP00000340679:C292Y	ENSP00000311453:C338Y	C	+	2	0	PDE8A	83444410	1.000000	0.71417	0.888000	0.34837	0.883000	0.51084	2.439000	0.44846	0.121000	0.18284	0.511000	0.50034	TGT		0.413	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1		NM_002605	
PITPNM3	83394	hgsc.bcm.edu	37	17	6381331	6381331	+	Silent	SNP	G	G	A			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr17:6381331G>A	ENST00000262483.8	-	8	951	c.864C>T	c.(862-864)gcC>gcT	p.A288A	PITPNM3_ENST00000421306.3_Silent_p.A252A	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	288	Ser-rich.				phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GGCTGCTGCTGGCAGGGCTGT	0.682																																																	0													59.0	67.0	65.0					17																	6381331		2203	4300	6503	SO:0001819	synonymous_variant	83394			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.864C>T	17.37:g.6381331G>A		Somatic		WXS	SOLID	Phase_I	A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	ENST00000262483.8	37	CCDS11076.1																																																																																				0.682	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2		NM_031220	
PLEKHH2	130271	hgsc.bcm.edu;ucsc.edu	37	2	43973017	43973017	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr2:43973017A>G	ENST00000282406.4	+	24	3678	c.3568A>G	c.(3568-3570)Att>Gtt	p.I1190V		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1190	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTGTGACATTATTTCCAAATG	0.373																																																	0													67.0	62.0	63.0					2																	43973017		2203	4300	6503	SO:0001583	missense	130271			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3568A>G	2.37:g.43973017A>G	ENSP00000282406:p.Ile1190Val	Somatic		WXS	SOLID	Phase_I	Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.557534	0.86231	.	.	ENSG00000152527	ENST00000282406	T	0.55413	0.52	5.75	5.75	0.90469	Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.73644	0.3613	M	0.81942	2.565	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.74982	-0.3478	10	0.42905	T	0.14	-25.22	16.0487	0.80740	1.0:0.0:0.0:0.0	.	1190	Q8IVE3	PKHH2_HUMAN	V	1190	ENSP00000282406:I1190V	ENSP00000282406:I1190V	I	+	1	0	PLEKHH2	43826521	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.051000	0.76627	2.196000	0.70406	0.460000	0.39030	ATT		0.373	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1		NM_172069	
RGL1	23179	hgsc.bcm.edu;ucsc.edu	37	1	183895346	183895346	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr1:183895346C>T	ENST00000360851.3	+	18	2405	c.2227C>T	c.(2227-2229)Cgt>Tgt	p.R743C	RGL1_ENST00000539189.1_Missense_Mutation_p.R714C|RGL1_ENST00000304685.4_Missense_Mutation_p.R778C|RGL1_ENST00000536277.1_Missense_Mutation_p.R741C			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	743					cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						AGTGAAACTGCGTAGCCGGAC	0.502																																																	0													92.0	87.0	88.0					1																	183895346		2203	4300	6503	SO:0001583	missense	23179			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.2227C>T	1.37:g.183895346C>T	ENSP00000354097:p.Arg743Cys	Somatic		WXS	SOLID	Phase_I	Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37		.	.	.	.	.	.	.	.	.	.	C	19.66	3.869890	0.72065	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.50813	0.73;0.73;0.74;0.74;0.73	5.37	5.37	0.77165	.	0.167388	0.52532	D	0.000065	T	0.53932	0.1827	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.89917	1.0;0.995;0.995;0.995	D;P;P;P	0.74348	0.983;0.635;0.513;0.513	T	0.56263	-0.8008	10	0.72032	D	0.01	.	11.9427	0.52909	0.2687:0.7313:0.0:0.0	.	714;741;743;778	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	C	778;778;741;743;714	ENSP00000303192:R778C;ENSP00000356501:R778C;ENSP00000438662:R741C;ENSP00000354097:R743C;ENSP00000437355:R714C	ENSP00000303192:R778C	R	+	1	0	RGL1	182161969	1.000000	0.71417	0.618000	0.29105	0.973000	0.67179	2.492000	0.45311	2.666000	0.90696	0.650000	0.86243	CGT		0.502	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1		NM_015149	
SEMA4B	10509	hgsc.bcm.edu;ucsc.edu	37	15	90768609	90768609	+	Silent	SNP	C	C	T			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr15:90768609C>T	ENST00000411539.2	+	11	1761	c.1501C>T	c.(1501-1503)Ctg>Ttg	p.L501L	SEMA4B_ENST00000379122.3_Silent_p.L496L|SEMA4B_ENST00000332496.6_Silent_p.L501L	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	496	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CGTGCAGAATCTGCTCCTGGA	0.637																																																	0													29.0	35.0	33.0					15																	90768609		1986	4116	6102	SO:0001819	synonymous_variant	10509			AB051532	CCDS45347.1	15q25	2008-07-18						"""Semaphorins"""	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.1501C>T	15.37:g.90768609C>T		Somatic		WXS	SOLID	Phase_I	Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Silent	SNP	ENST00000411539.2	37	CCDS45347.1																																																																																				0.637	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416810.1		NM_198925	
SLC16A3	9123	hgsc.bcm.edu	37	17	80195666	80195666	+	Missense_Mutation	SNP	C	C	A	rs373465497		TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr17:80195666C>A	ENST00000581287.1	+	3	3342	c.1020C>A	c.(1018-1020)ttC>ttA	p.F340L	SLC16A3_ENST00000582743.1_Missense_Mutation_p.F340L|SLC16A3_ENST00000392341.1_Missense_Mutation_p.F340L|SLC16A3_ENST00000392339.1_Missense_Mutation_p.F340L	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	340					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|leukocyte migration (GO:0050900)|monocarboxylic acid transport (GO:0015718)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|poly(A) RNA binding (GO:0044822)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.F340L(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Gamma Hydroxybutyric Acid(DB01440)|Niacin(DB00627)|Pyruvic acid(DB00119)	CCCTGCAGTTCGAGGTGCTCA	0.662																																					Pancreas(52;652 1135 19190 37282 52456)												1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											40.0	31.0	34.0					17																	80195666		2199	4297	6496	SO:0001583	missense	9123			U81800	CCDS11804.1	17q25.3	2013-07-18	2013-07-18		ENSG00000141526	ENSG00000141526		"""Solute carriers"""	10924	protein-coding gene	gene with protein product		603877	"""solute carrier family 16 (monocarboxylic acid transporters), member 3"", ""solute carrier family 16, member 3 (monocarboxylic acid transporter 4)"""			9425115	Standard	NM_004207		Approved	MCT3, MCT4	uc021ufm.1	O15427	OTTHUMG00000178832	ENST00000581287.1:c.1020C>A	17.37:g.80195666C>A	ENSP00000463978:p.Phe340Leu	Somatic		WXS	SOLID	Phase_I	B3KXG8|Q2M1P8	Missense_Mutation	SNP	ENST00000581287.1	37	CCDS11804.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840535	0.91197	.	.	ENSG00000141526	ENST00000392341;ENST00000392339	T;T	0.72282	-0.64;-0.64	5.95	-7.61	0.01299	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.094443	0.85682	D	0.000000	T	0.79516	0.4459	M	0.85630	2.765	0.52099	D	0.999947	P;D	0.76494	0.621;0.999	B;D	0.91635	0.367;0.999	D	0.85488	0.1183	10	0.10902	T	0.67	.	16.6055	0.84827	0.0:0.2349:0.0:0.7651	.	340;340	Q53G91;O15427	.;MOT4_HUMAN	L	340	ENSP00000376152:F340L;ENSP00000376150:F340L	ENSP00000376150:F340L	F	+	3	2	SLC16A3	77788955	0.886000	0.30341	0.774000	0.31636	0.994000	0.84299	-0.034000	0.12225	-1.397000	0.02068	-0.251000	0.11542	TTC		0.662	SLC16A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443498.1		NM_004207	
SNX24	28966	hgsc.bcm.edu;ucsc.edu	37	5	122335673	122335673	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr5:122335673C>T	ENST00000261369.4	+	4	501	c.316C>T	c.(316-318)Ccc>Tcc	p.P106S	SNX24_ENST00000506996.1_Missense_Mutation_p.P106S|SNX24_ENST00000513881.1_Missense_Mutation_p.P106S|SNX24_ENST00000395451.4_Missense_Mutation_p.P139S|SNX24_ENST00000511211.1_3'UTR	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	106	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		GCGACACTTGCCCTCTCTACC	0.358																																																	0													179.0	185.0	183.0					5																	122335673		2203	4300	6503	SO:0001583	missense	28966			AF139461	CCDS4132.1	5q23.2	2008-03-11	2007-08-15		ENSG00000064652	ENSG00000064652		"""Sorting nexins"""	21533	protein-coding gene	gene with protein product						12461558	Standard	NM_014035		Approved	SBBI31	uc011cwo.2	Q9Y343	OTTHUMG00000128913	ENST00000261369.4:c.316C>T	5.37:g.122335673C>T	ENSP00000261369:p.Pro106Ser	Somatic		WXS	SOLID	Phase_I	Q6UY33	Missense_Mutation	SNP	ENST00000261369.4	37	CCDS4132.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849953	0.91277	.	.	ENSG00000064652	ENST00000261369;ENST00000513881;ENST00000395451;ENST00000506996	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	6.17	6.17	0.99709	Phox homologous domain (3);	0.000000	0.85682	D	0.000000	T	0.54415	0.1857	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.79784	0.941;0.993	T	0.40194	-0.9576	10	0.08599	T	0.76	-17.2694	20.8794	0.99867	0.0:1.0:0.0:0.0	.	106;106	Q9Y343;Q9Y343-2	SNX24_HUMAN;.	S	106;106;139;106	ENSP00000261369:P106S;ENSP00000424149:P106S;ENSP00000378837:P139S;ENSP00000422535:P106S	ENSP00000261369:P106S	P	+	1	0	SNX24	122363572	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.455000	0.73497	2.941000	0.99782	0.655000	0.94253	CCC		0.358	SNX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250885.2		NM_014035	
STRA6	64220	hgsc.bcm.edu;ucsc.edu	37	15	74483211	74483211	+	Silent	SNP	T	T	C			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr15:74483211T>C	ENST00000323940.5	-	11	1142	c.897A>G	c.(895-897)tcA>tcG	p.S299S	STRA6_ENST00000423167.2_Silent_p.S290S|STRA6_ENST00000395105.4_Silent_p.S299S|STRA6_ENST00000416286.3_Silent_p.S291S|STRA6_ENST00000535552.1_Silent_p.S336S|STRA6_ENST00000563965.1_Silent_p.S338S|STRA6_ENST00000449139.2_Silent_p.S299S|STRA6_ENST00000574278.1_Silent_p.S314S|STRA6_ENST00000574439.1_5'UTR	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	299					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						TCAGTGTAGCTGAAAGCACCA	0.587																																																	0													106.0	86.0	93.0					15																	74483211		2198	4297	6495	SO:0001819	synonymous_variant	64220			AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"""retinol binding protein 4 receptor"""	610745	"""stimulated by retinoic acid gene 6 homolog (mouse)"", ""stimulated by retinoic acid 6 homolog (mouse)"""			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.897A>G	15.37:g.74483211T>C		Somatic		WXS	SOLID	Phase_I	A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Silent	SNP	ENST00000323940.5	37	CCDS10261.1																																																																																				0.587	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272891.1			
TMEM200A	114801	hgsc.bcm.edu;ucsc.edu	37	6	130762739	130762739	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr6:130762739T>C	ENST00000296978.3	+	3	2043	c.1172T>C	c.(1171-1173)cTc>cCc	p.L391P	TMEM200A_ENST00000545622.1_Missense_Mutation_p.L391P|TMEM200A_ENST00000392429.1_Missense_Mutation_p.L391P	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	391						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TTGCATTTGCTCTCGTCACAC	0.532																																																	0													88.0	83.0	85.0					6																	130762739		2203	4300	6503	SO:0001583	missense	114801			AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.1172T>C	6.37:g.130762739T>C	ENSP00000296978:p.Leu391Pro	Somatic		WXS	SOLID	Phase_I	Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	T	19.71	3.878428	0.72294	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.55513	0.1925	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.57814	-0.7746	9	0.34782	T	0.22	-17.8631	16.6407	0.85098	0.0:0.0:0.0:1.0	.	391	Q86VY9	T200A_HUMAN	P	391	.	ENSP00000296978:L391P	L	+	2	0	TMEM200A	130804432	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	8.040000	0.89188	2.326000	0.78906	0.533000	0.62120	CTC		0.532	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1		NM_052913	
TNS1	7145	hgsc.bcm.edu	37	2	218686541	218686541	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr2:218686541A>G	ENST00000171887.4	-	23	3634	c.3182T>C	c.(3181-3183)cTg>cCg	p.L1061P	TNS1_ENST00000430930.1_Missense_Mutation_p.L1040P|TNS1_ENST00000419504.1_Missense_Mutation_p.L1048P	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1061					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCCGTTCCTCAGGGGTATCTC	0.647																																																	0													21.0	22.0	22.0					2																	218686541		2202	4298	6500	SO:0001583	missense	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3182T>C	2.37:g.218686541A>G	ENSP00000171887:p.Leu1061Pro	Somatic		WXS	SOLID	Phase_I	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	A	11.43	1.637408	0.29157	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.92397	-3.03;1.97;-2.99;-3.03	4.41	4.41	0.53225	.	0.705172	0.12700	N	0.446434	D	0.85890	0.5802	N	0.24115	0.695	0.58432	D	0.999999	P;P;P	0.51351	0.883;0.944;0.944	P;B;P	0.44860	0.462;0.439;0.462	D	0.83650	0.0155	10	0.66056	D	0.02	.	4.6963	0.12806	0.7313:0.0:0.099:0.1698	.	1061;1040;1048	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	P	1061;199;1048;1040	ENSP00000171887:L1061P;ENSP00000394171:L199P;ENSP00000408724:L1048P;ENSP00000406016:L1040P	ENSP00000171887:L1061P	L	-	2	0	TNS1	218394786	0.996000	0.38824	0.936000	0.37596	0.569000	0.35902	3.457000	0.53007	1.631000	0.50456	0.459000	0.35465	CTG		0.647	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2		NM_022648	
TRANK1	9881	hgsc.bcm.edu;ucsc.edu	37	3	36871105	36871108	+	Frame_Shift_Del	DEL	CTGA	CTGA	-			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	CTGA	CTGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr3:36871105_36871108delCTGA	ENST00000429976.2	-	22	8871_8874	c.8624_8627delTCAG	c.(8623-8628)gtcaggfs	p.VR2875fs	TRANK1_ENST00000428977.2_Frame_Shift_Del_p.VR2325fs|TRANK1_ENST00000301807.6_Frame_Shift_Del_p.VR2325fs	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2875							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCGTGCATCCCTGACTGACAGGAT	0.49																																																	0																																										SO:0001589	frameshift_variant	9881			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.8624_8627delTCAG	3.37:g.36871109_36871112delCTGA	ENSP00000416168:p.Val2875fs	Somatic		WXS	SOLID	Phase_I	Q8N8K0	Frame_Shift_Del	DEL	ENST00000429976.2	37	CCDS46789.2																																																																																				0.490	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_014831	
TRPM1	4308	hgsc.bcm.edu	37	15	31295002	31295002	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr15:31295002C>A	ENST00000256552.6	-	28	4048	c.3901G>T	c.(3901-3903)Gga>Tga	p.G1301*	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Nonsense_Mutation_p.G1279*|TRPM1_ENST00000542188.1_Nonsense_Mutation_p.G1318*	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.G1279R(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AACTCTTCTCCGTTAAAATGA	0.463																																																	1	Substitution - Missense(1)	pancreas(1)											77.0	74.0	75.0					15																	31295002		1974	4168	6142	SO:0001587	stop_gained	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3901G>T	15.37:g.31295002C>A	ENSP00000256552:p.Gly1301*	Somatic		WXS	SOLID	Phase_I		Nonsense_Mutation	SNP	ENST00000256552.6	37	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	42	9.335439	0.99140	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	.	.	.	4.96	4.04	0.47022	.	0.365546	0.28641	N	0.014638	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-17.9917	9.5414	0.39255	0.0:0.8404:0.0:0.1596	.	.	.	.	X	1279;1318;1301;1279	.	ENSP00000256552:G1301X	G	-	1	0	TRPM1	29082294	0.343000	0.24818	0.083000	0.20561	0.984000	0.73092	2.619000	0.46401	1.087000	0.41251	0.650000	0.86243	GGA		0.463	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2		NM_002420	
TTN	7273	hgsc.bcm.edu;ucsc.edu	37	2	179399891	179399891	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr2:179399891C>G	ENST00000591111.1	-	308	96752	c.96528G>C	c.(96526-96528)gaG>gaC	p.E32176D	TTN_ENST00000342992.6_Missense_Mutation_p.E31249D|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E24877D|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E24944D|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E24752D|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E33817D|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588257.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32176					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATATATTTCTCATAGAGTT	0.398																																																	0													105.0	102.0	103.0					2																	179399891		1891	4113	6004	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.96528G>C	2.37:g.179399891C>G	ENSP00000465570:p.Glu32176Asp	Somatic		WXS	SOLID	Phase_I	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	9.866	1.197717	0.22037	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.82	1.62	0.23740	Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.20700	0.0498	N	0.08118	0	0.39883	D	0.973667	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.05500	-1.0881	9	0.87932	D	0	.	5.9395	0.19186	0.0886:0.5037:0.2698:0.1379	.	24752;24877;24944;32176	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	31249;24752;24944;24877;24749	ENSP00000343764:E31249D;ENSP00000434586:E24752D;ENSP00000340554:E24944D;ENSP00000352154:E24877D	ENSP00000340554:E24944D	E	-	3	2	TTN	179108137	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	0.267000	0.18552	0.355000	0.24131	0.557000	0.71058	GAG		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
ZNF131	7690	hgsc.bcm.edu;ucsc.edu	37	5	43175076	43175076	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr5:43175076C>G	ENST00000399534.1	+	7	1757	c.1713C>G	c.(1711-1713)atC>atG	p.I571M	ZNF131_ENST00000306938.4_Missense_Mutation_p.I537M|ZNF131_ENST00000509634.1_Missense_Mutation_p.I537M|ZNF131_ENST00000509156.1_Missense_Mutation_p.I571M|ZNF131_ENST00000505606.2_Missense_Mutation_p.I537M|ZNF131_ENST00000509931.1_Intron			P52739	ZN131_HUMAN	zinc finger protein 131	571					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						CCCCAGAAATCATGAACCAAG	0.488																																																	0													82.0	80.0	81.0					5																	43175076		1964	4161	6125	SO:0001583	missense	7690			U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.1713C>G	5.37:g.43175076C>G	ENSP00000382450:p.Ile571Met	Somatic		WXS	SOLID	Phase_I	B4DRL3|Q6PIF0	Missense_Mutation	SNP	ENST00000399534.1	37		.	.	.	.	.	.	.	.	.	.	C	6.134	0.392942	0.11638	.	.	ENSG00000172262	ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9	5.75	3.93	0.45458	.	0.341546	0.25394	N	0.030987	T	0.56426	0.1984	N	0.17082	0.46	0.27412	N	0.95454	B;B	0.06786	0.0;0.001	B;B	0.08055	0.002;0.003	T	0.45071	-0.9286	10	0.30854	T	0.27	-0.0089	9.8249	0.40905	0.0:0.6599:0.2669:0.0732	.	571;537	P52739;P52739-2	ZN131_HUMAN;.	M	571;537;571;537;537	ENSP00000426504:I571M;ENSP00000305804:I537M;ENSP00000382450:I571M;ENSP00000423945:I537M;ENSP00000421246:I537M	ENSP00000305804:I537M	I	+	3	3	ZNF131	43210833	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.933000	0.28897	0.734000	0.32515	0.467000	0.42956	ATC		0.488	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1		NM_003432	
ZNF227	7770	hgsc.bcm.edu	37	19	44739196	44739196	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4775-01A-01D-1366-10	TCGA-BP-4775-11A-01D-1367-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3b3efb4-d6c5-4249-b125-1bb2232d2ea9	7548d4f2-9c42-43d0-b807-44695c970ea1	g.chr19:44739196G>A	ENST00000313040.7	+	6	818	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	ZNF227_ENST00000391961.2_Missense_Mutation_p.E154K|ZNF227_ENST00000589005.1_Missense_Mutation_p.E154K	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	205					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)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				GCAAATACATGAAGACTTCAT	0.373																																																	0													60.0	59.0	60.0					19																	44739196		2203	4300	6503	SO:0001583	missense	7770			AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.613G>A	19.37:g.44739196G>A	ENSP00000321049:p.Glu205Lys	Somatic		WXS	SOLID	Phase_I	B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	37	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	G	0.638	-0.814435	0.02798	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980	T;T	0.08282	3.25;3.11	4.27	1.91	0.25777	.	.	.	.	.	T	0.02119	0.0066	N	0.00707	-1.245	0.09310	N	1	B;B;B;B	0.26744	0.158;0.158;0.158;0.158	B;B;B;B	0.25614	0.038;0.062;0.062;0.028	T	0.37979	-0.9682	9	0.02654	T	1	.	10.7457	0.46179	0.0:0.0:0.6625:0.3375	.	126;184;157;205	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	K	205;162;154;184	ENSP00000321049:E205K;ENSP00000375823:E154K	ENSP00000321049:E205K	E	+	1	0	ZNF227	49431036	0.000000	0.05858	0.006000	0.13384	0.042000	0.13812	0.345000	0.19979	1.117000	0.41842	0.563000	0.77884	GAA		0.373	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1		NM_182490	
