#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
ABCC9	10060	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	21968702	21968702	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr12:21968702G>T	ENST00000261201.4	-	32	4017	c.4018C>A	c.(4018-4020)Caa>Aaa	p.Q1340K	ABCC9_ENST00000345162.2_Missense_Mutation_p.Q1304K|ABCC9_ENST00000261200.4_Missense_Mutation_p.Q1340K	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1340	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.Q1340K(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CATACCTTTTGTCCAGGTTTG	0.393																																																	2	Substitution - Missense(2)	kidney(2)											148.0	138.0	141.0					12																	21968702		2203	4300	6503	SO:0001583	missense	10060			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.4018C>A	12.37:g.21968702G>T	ENSP00000261201:p.Gln1340Lys	Somatic		WXS	Illumina HiSeq	Phase_I	O60707	Missense_Mutation	SNP	ENST00000261201.4	37	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653489	0.88056	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26	5.2	5.2	0.72013	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.88074	0.6339	N	0.20845	0.615	0.58432	D	0.999998	P;B	0.37824	0.609;0.335	B;B	0.34824	0.186;0.19	D	0.89468	0.3741	10	0.72032	D	0.01	-1.0651	17.0771	0.86589	0.0:0.0:1.0:0.0	.	1340;1340	O60706;O60706-2	ABCC9_HUMAN;.	K	1340;967;1340;1304	ENSP00000261200:Q1340K;ENSP00000440521:Q967K;ENSP00000261201:Q1340K;ENSP00000261202:Q1304K	ENSP00000261200:Q1340K	Q	-	1	0	ABCC9	21859969	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	9.032000	0.93736	2.689000	0.91719	0.650000	0.86243	CAA		0.393	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1		NM_005691	
ADD3	120	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	111877147	111877147	+	Silent	SNP	C	C	T	rs529121884		TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr10:111877147C>T	ENST00000356080.4	+	5	901	c.534C>T	c.(532-534)ggC>ggT	p.G178G	ADD3_ENST00000277900.8_Silent_p.G178G|ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000360162.3_Silent_p.G178G	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	178						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.G178G(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TTCCCAGAGGCCTATCTTTTT	0.363																																																	1	Substitution - coding silent(1)	kidney(1)											90.0	89.0	89.0					10																	111877147		2203	4300	6503	SO:0001819	synonymous_variant	120			U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.534C>T	10.37:g.111877147C>T		Somatic		WXS	Illumina HiSeq	Phase_I	D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Silent	SNP	ENST00000356080.4	37	CCDS7561.1																																																																																				0.363	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1		NM_019903	
AGBL1	123624	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	86838616	86838616	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr15:86838616G>C	ENST00000441037.2	+	16	2308	c.2213G>C	c.(2212-2214)aGt>aCt	p.S738T	AGBL1-AS1_ENST00000566878.1_RNA|AGBL1-AS1_ENST00000564487.1_RNA|AGBL1_ENST00000389298.3_Missense_Mutation_p.S469T|AGBL1_ENST00000421325.2_Missense_Mutation_p.S738T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	738					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.S738T(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GAGTCCAACAGTGATGAGCAT	0.493																																																	1	Substitution - Missense(1)	kidney(1)											116.0	114.0	115.0					15																	86838616		1982	4167	6149	SO:0001583	missense	123624			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2213G>C	15.37:g.86838616G>C	ENSP00000413001:p.Ser738Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.247535	0.22880	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.10288	2.89;2.89	5.6	5.6	0.85130	Peptidase M14, carboxypeptidase A (1);	0.367255	0.31577	N	0.007419	T	0.14227	0.0344	N	0.25890	0.77	0.09310	N	1	P;B;D	0.54964	0.696;0.356;0.969	B;B;P	0.58660	0.268;0.236;0.843	T	0.22034	-1.0228	10	0.14656	T	0.56	-19.9399	10.8515	0.46773	0.0858:0.0:0.9142:0.0	.	437;469;738	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	T	767;738;469	ENSP00000397173:S738T;ENSP00000373949:S469T	ENSP00000373949:S469T	S	+	2	0	AGBL1	84639620	0.085000	0.21516	0.043000	0.18650	0.646000	0.38490	2.549000	0.45803	2.789000	0.95967	0.650000	0.86243	AGT		0.493	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5		NM_152336	
AGRN	375790	broad.mit.edu	37	1	985094	985094	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr1:985094delC	ENST00000379370.2	+	26	4713	c.4663delC	c.(4663-4665)cccfs	p.P1555fs		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1555	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCCCTGCCTGCCCAACCCCTG	0.721																																																	0													5.0	8.0	7.0					1																	985094		2102	4139	6241	SO:0001589	frameshift_variant	375790			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.4663delC	1.37:g.985094delC	ENSP00000368678:p.Pro1555fs	Somatic		WXS	Illumina GAIIx	Phase_I	Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Frame_Shift_Del	DEL	ENST00000379370.2	37	CCDS30551.1																																																																																				0.721	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2		NM_198576	
AKAP9	10142	hgsc.bcm.edu;ucsc.edu	37	7	91708532	91708532	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr7:91708532delA	ENST00000359028.2	+	32	7346	c.7121delA	c.(7120-7122)gaafs	p.E2374fs	AKAP9_ENST00000358100.2_Frame_Shift_Del_p.E2374fs|AKAP9_ENST00000356239.3_Frame_Shift_Del_p.E2362fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2374	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTCAACAGGAATTGGCAAAT	0.358			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													95.0	92.0	93.0					7																	91708532		2203	4300	6503	SO:0001589	frameshift_variant	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.7121delA	7.37:g.91708532delA	ENSP00000351922:p.Glu2374fs	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Del	DEL	ENST00000359028.2	37																																																																																					0.358	AKAP9-202	KNOWN	basic	protein_coding	protein_coding			NM_005751	
SLC35G6	643664	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7385621	7385621	+	Silent	SNP	C	C	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr17:7385621C>T	ENST00000412468.2	+	2	433	c.318C>T	c.(316-318)ttC>ttT	p.F106F	ZBTB4_ENST00000311403.4_Intron|POLR2A_ENST00000322644.6_5'Flank|POLR2A_ENST00000572844.1_5'Flank|ZBTB4_ENST00000380599.4_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	106	EamA 1.					integral component of membrane (GO:0016021)		p.F106F(1)									GGGCCTACTTCTATGCCCTGC	0.592																																																	1	Substitution - coding silent(1)	kidney(1)											185.0	189.0	188.0					17																	7385621		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"""Solute carriers"""	31351	protein-coding gene	gene with protein product			"""transmembrane protein 21B"", ""acyl-malonyl condensing enzyme 1-like 3"""	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.318C>T	17.37:g.7385621C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000412468.2	37	CCDS45603.1																																																																																				0.592	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001102614	
BCDIN3D	144233	broad.mit.edu	37	12	50236870	50236870	+	Start_Codon_SNP	SNP	T	T	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr12:50236870T>A	ENST00000333924.4	-	1	42	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	BCDIN3D-AS1_ENST00000549124.1_RNA|BCDIN3D-AS1_ENST00000548872.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	1					miRNA metabolic process (GO:0010586)|negative regulation of pre-miRNA processing (GO:2000632)|RNA methylation (GO:0001510)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	O-methyltransferase activity (GO:0008171)|RNA methyltransferase activity (GO:0008173)	p.M1L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						GGCACCGCCATTAGCCTCAAC	0.662																																																	1	Substitution - Missense(1)	kidney(1)											32.0	30.0	31.0					12																	50236870		2177	4254	6431	SO:0001582	initiator_codon_variant	144233				CCDS8790.1	12q13.13	2008-03-12				ENSG00000186666			27050	protein-coding gene	gene with protein product							Standard	NM_181708		Approved		uc001rvh.3	Q7Z5W3	OTTHUMG00000169807	ENST00000333924.4:c.1A>T	12.37:g.50236870T>A	ENSP00000335201:p.Met1Leu	Somatic		WXS	Illumina GAIIx	Phase_I	A8K829	Missense_Mutation	SNP	ENST00000333924.4	37	CCDS8790.1	.	.	.	.	.	.	.	.	.	.	T	16.65	3.183484	0.57800	.	.	ENSG00000186666	ENST00000333924	T	0.40476	1.03	6.08	4.92	0.64577	.	0.325555	0.35040	N	0.003488	T	0.35038	0.0918	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.15350	-1.0440	9	0.87932	D	0	.	9.5459	0.39279	0.1566:0.0:0.0:0.8434	.	1	Q7Z5W3	BN3D2_HUMAN	L	1	ENSP00000335201:M1L	ENSP00000335201:M1L	M	-	1	0	BCDIN3D	48523137	1.000000	0.71417	0.833000	0.33012	0.037000	0.13140	4.713000	0.61895	1.094000	0.41399	-0.468000	0.05107	ATG		0.662	BCDIN3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405982.1		NM_181708	Missense_Mutation
ANAPC5	51433	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	121758187	121758187	+	Splice_Site	SNP	C	C	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr12:121758187C>A	ENST00000261819.3	-	12	1637		c.e12+1		ANAPC5_ENST00000344395.4_Splice_Site|ANAPC5_ENST00000541887.1_Splice_Site|ANAPC5_ENST00000441917.2_Splice_Site|ANAPC5_ENST00000535482.1_Splice_Site|ANAPC5_ENST00000544314.1_Splice_Site	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)	p.?(1)		breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGCAGATTACCTGGGCGTGC	0.358																																																	1	Unknown(1)	kidney(1)											81.0	79.0	79.0					12																	121758187		2203	4300	6503	SO:0001630	splice_region_variant	51433			AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.1515+1G>T	12.37:g.121758187C>A		Somatic		WXS	Illumina HiSeq	Phase_I	E9PFB2|Q8N4H7|Q9BQD4	Splice_Site	SNP	ENST00000261819.3	37	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299787	0.40694	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9488	0.92632	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANAPC5	120242570	1.000000	0.71417	1.000000	0.80357	0.237000	0.25408	5.878000	0.69682	2.783000	0.95769	0.655000	0.94253	.		0.358	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			Intron
BEND2	139105	broad.mit.edu;ucsc.edu	37	X	18219956	18219956	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chrX:18219956C>G	ENST00000380033.4	-	6	1144	c.1012G>C	c.(1012-1014)Gtc>Ctc	p.V338L	BEND2_ENST00000380030.3_Intron	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	338								p.V338L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GGGATGAAGACAGATAAAGAG	0.453																																																	1	Substitution - Missense(1)	kidney(1)											217.0	181.0	193.0					X																	18219956		2203	4300	6503	SO:0001583	missense	139105			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1012G>C	X.37:g.18219956C>G	ENSP00000369372:p.Val338Leu	Somatic		WXS	Illumina GAIIx	Phase_I	E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	-	12.61	1.988705	0.35131	.	.	ENSG00000177324	ENST00000380033	T	0.27720	1.65	3.16	-4.56	0.03431	.	.	.	.	.	T	0.16685	0.0401	L	0.46157	1.445	0.09310	N	1	B	0.21225	0.053	B	0.12156	0.007	T	0.38779	-0.9645	9	0.11182	T	0.66	.	1.0269	0.01529	0.1526:0.2014:0.2032:0.4428	.	338	Q8NDZ0	BEND2_HUMAN	L	338	ENSP00000369372:V338L	ENSP00000369372:V338L	V	-	1	0	BEND2	18129877	0.000000	0.05858	0.000000	0.03702	0.130000	0.20726	-6.745000	0.00055	-1.362000	0.02166	0.411000	0.27672	GTC		0.453	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1		NM_153346	
BIRC6	57448	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	32631593	32631593	+	Missense_Mutation	SNP	G	G	A	rs550400928		TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr2:32631593G>A	ENST00000421745.2	+	9	1579	c.1445G>A	c.(1444-1446)aGt>aAt	p.S482N		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	482					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.S454N(1)|p.S482N(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GATTCAGACAGTGAAGAGCAT	0.289													G|||	1	0.000199681	0.0	0.0	5008	,	,		19902	0.0		0.0	False		,,,				2504	0.001				Pancreas(94;175 1509 16028 18060 45422)												2	Substitution - Missense(2)	kidney(2)											74.0	80.0	78.0					2																	32631593		2203	4300	6503	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.1445G>A	2.37:g.32631593G>A	ENSP00000393596:p.Ser482Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782017	0.90282	.	.	ENSG00000115760	ENST00000421745	T	0.77877	-1.13	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.70509	0.3232	L	0.36672	1.1	0.58432	D	0.999994	B	0.33694	0.421	B	0.26969	0.075	T	0.71823	-0.4476	10	0.59425	D	0.04	.	19.4888	0.95042	0.0:0.0:1.0:0.0	.	482	Q9NR09	BIRC6_HUMAN	N	482	ENSP00000393596:S482N	ENSP00000393596:S482N	S	+	2	0	BIRC6	32485097	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.414000	0.97362	2.607000	0.88179	0.585000	0.79938	AGT		0.289	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252	
BSPRY	54836	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	116132237	116132237	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr9:116132237C>A	ENST00000374183.4	+	6	1063	c.1024C>A	c.(1024-1026)Cac>Aac	p.H342N	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	342	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)	cell leading edge (GO:0031252)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.H342N(1)		breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CAATGGGCAGCACGAGCCCCT	0.612																																																	1	Substitution - Missense(1)	kidney(1)											42.0	42.0	42.0					9																	116132237		1961	4142	6103	SO:0001583	missense	54836			AJ276691	CCDS43868.1	9q33.1	2008-02-05			ENSG00000119411	ENSG00000119411			18232	protein-coding gene	gene with protein product						10978534, 11099500	Standard	NM_017688		Approved	FLJ20150	uc004bhg.4	Q5W0U4	OTTHUMG00000021006	ENST00000374183.4:c.1024C>A	9.37:g.116132237C>A	ENSP00000363298:p.His342Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B3KS19|Q96DJ2|Q9H4E4|Q9NXN0	Missense_Mutation	SNP	ENST00000374183.4	37	CCDS43868.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247793	0.39697	.	.	ENSG00000119411	ENST00000374183	T	0.68331	-0.32	5.69	4.6	0.57074	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.255347	0.46758	D	0.000272	T	0.57799	0.2078	L	0.45228	1.405	0.37102	D	0.89995	B	0.23540	0.087	B	0.23716	0.048	T	0.57562	-0.7790	10	0.21540	T	0.41	-0.1122	14.6418	0.68732	0.0:0.9179:0.0:0.0821	.	342	Q5W0U4	BSPRY_HUMAN	N	342	ENSP00000363298:H342N	ENSP00000363298:H342N	H	+	1	0	BSPRY	115172058	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	2.470000	0.45119	2.688000	0.91661	0.561000	0.74099	CAC		0.612	BSPRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055399.1		NM_017688	
C10orf62	414157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	99350271	99350271	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr10:99350271G>C	ENST00000370640.3	+	1	822	c.617G>C	c.(616-618)aGt>aCt	p.S206T	HOGA1_ENST00000370647.4_Intron|HOGA1_ENST00000370646.4_Intron|PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN	chromosome 10 open reading frame 62	206	His-rich.							p.S206T(1)		endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		AGTCACCACAGTCACCATGGC	0.537																																																	1	Substitution - Missense(1)	kidney(1)											80.0	72.0	75.0					10																	99350271		2203	4300	6503	SO:0001583	missense	414157				CCDS31261.1	10q24.2	2012-05-31			ENSG00000203942	ENSG00000203942			23294	protein-coding gene	gene with protein product							Standard	NM_001009997		Approved	bA548K23.1	uc001koa.3	Q5T681	OTTHUMG00000018858	ENST00000370640.3:c.617G>C	10.37:g.99350271G>C	ENSP00000359674:p.Ser206Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q49A70|Q8N3Y6	Missense_Mutation	SNP	ENST00000370640.3	37	CCDS31261.1	.	.	.	.	.	.	.	.	.	.	G	4.796	0.148078	0.09134	.	.	ENSG00000203942	ENST00000370640	T	0.51325	0.71	4.95	3.1	0.35709	.	1.032320	0.07721	U	0.943711	T	0.30324	0.0761	N	0.19112	0.55	0.09310	N	0.999999	P	0.40476	0.718	B	0.33042	0.157	T	0.13335	-1.0513	10	0.51188	T	0.08	-0.2657	7.6131	0.28142	0.1971:0.0:0.8029:0.0	.	206	Q5T681	CJ062_HUMAN	T	206	ENSP00000359674:S206T	ENSP00000359674:S206T	S	+	2	0	C10orf62	99340261	0.005000	0.15991	0.000000	0.03702	0.045000	0.14185	1.509000	0.35780	0.499000	0.27970	0.643000	0.83706	AGT		0.537	C10orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049723.1		NM_001009997	
PROSER1	80209	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	39587314	39587314	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr13:39587314G>A	ENST00000352251.3	-	11	2908	c.2075C>T	c.(2074-2076)cCa>cTa	p.P692L	PROSER1_ENST00000350125.3_Missense_Mutation_p.P670L|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	692	Ser-rich.							p.P692L(1)									AGTGAATACTGGTGCAATGGG	0.438																																																	1	Substitution - Missense(1)	kidney(1)											129.0	129.0	129.0					13																	39587314		2203	4300	6503	SO:0001583	missense	0			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.2075C>T	13.37:g.39587314G>A	ENSP00000332034:p.Pro692Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	G	14.11	2.436928	0.43224	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.34667	1.36;1.35	5.27	4.42	0.53409	.	.	.	.	.	T	0.47930	0.1472	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.38542	-0.9656	8	.	.	.	-13.7911	14.7268	0.69351	0.0:0.0:0.8541:0.1459	.	670;692	A6NJ97;Q86XN7	.;PRSR1_HUMAN	L	692;670	ENSP00000332034:P692L;ENSP00000339123:P670L	.	P	-	2	0	PROSER1	38485314	0.998000	0.40836	0.045000	0.18777	0.188000	0.23474	4.754000	0.62191	1.340000	0.45581	-0.310000	0.09108	CCA		0.438	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5		NM_025138	
CTC1	80169	hgsc.bcm.edu	37	17	8139457	8139458	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr17:8139457_8139458insT	ENST00000315684.8	-	6	1002_1003	c.995_996insA	c.(994-996)aagfs	p.K332fs	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	332					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						TGGGGAGTGGCTTGGGGTCAGC	0.55																																																	0																																										SO:0001589	frameshift_variant	0			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.996dupA	17.37:g.8139459_8139459dupT	ENSP00000313759:p.Lys332fs	Somatic		WXS	Illumina HiSeq	Phase_I	B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Frame_Shift_Ins	INS	ENST00000315684.8	37	CCDS42259.1																																																																																				0.550	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1		NM_025099	
CACNB1	782	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	37333729	37333729	+	Silent	SNP	C	C	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr17:37333729C>T	ENST00000394303.3	-	13	1413	c.1206G>A	c.(1204-1206)gcG>gcA	p.A402A	CACNB1_ENST00000394310.3_Silent_p.A402A|CACNB1_ENST00000344140.5_Silent_p.A447A|RP5-906A24.2_ENST00000579256.1_RNA	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	402					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.A402A(1)|p.A447A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCAAGTACTCCGCCAGATGCT	0.607																																					Esophageal Squamous(5;100 366 38393 41452 45827)												2	Substitution - coding silent(2)	kidney(2)											68.0	59.0	62.0					17																	37333729		2203	4300	6503	SO:0001819	synonymous_variant	782				CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.1206G>A	17.37:g.37333729C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Silent	SNP	ENST00000394303.3	37	CCDS42311.1																																																																																				0.607	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3			
CCBE1	147372	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	57136800	57136800	+	Missense_Mutation	SNP	C	C	T	rs121908251		TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr18:57136800C>T	ENST00000439986.4	-	4	342	c.305G>A	c.(304-306)tGc>tAc	p.C102Y	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	102			C -> S (in HKLLS1; dbSNP:rs121908251). {ECO:0000269|PubMed:19935664}.		lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)	p.C102Y(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GTTGTCCGTGCACTGCTGTTC	0.547																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)												1	Substitution - Missense(1)	kidney(1)											161.0	151.0	154.0					18																	57136800		2203	4300	6503	SO:0001583	missense	147372			AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.305G>A	18.37:g.57136800C>T	ENSP00000404464:p.Cys102Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q6MZX5|Q86SS2|Q8TF19	Missense_Mutation	SNP	ENST00000439986.4	37	CCDS32838.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776523	0.90195	.	.	ENSG00000183287	ENST00000439986	D	0.97752	-4.52	5.7	5.7	0.88788	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.97823	0.9285	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.99429	1.0935	10	0.87932	D	0	-18.8344	18.6098	0.91281	0.0:1.0:0.0:0.0	.	102	Q6UXH8	CCBE1_HUMAN	Y	102	ENSP00000404464:C102Y	ENSP00000404464:C102Y	C	-	2	0	CCBE1	55287780	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.456000	0.80751	2.683000	0.91414	0.650000	0.86243	TGC		0.547	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2		NM_133459	
CCDC15	80071	hgsc.bcm.edu;ucsc.edu	37	11	124824706	124824706	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr11:124824706delG	ENST00000344762.5	+	2	337	c.78delG	c.(76-78)aagfs	p.K26fs	CCDC15_ENST00000529051.1_Frame_Shift_Del_p.K26fs	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	26						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		TGAAGAGCAAGGACGTGTTGG	0.527																																																	0													130.0	133.0	132.0					11																	124824706		1975	4165	6140	SO:0001589	frameshift_variant	80071			BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.78delG	11.37:g.124824706delG	ENSP00000341684:p.Lys26fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H8U7	Frame_Shift_Del	DEL	ENST00000344762.5	37	CCDS44756.1																																																																																				0.527	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1		NM_025004	
CCNC	892	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	100009547	100009547	+	Silent	SNP	T	T	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr6:100009547T>A	ENST00000520429.1	-	3	595	c.150A>T	c.(148-150)gcA>gcT	p.A50A	CCNC_ENST00000523985.1_5'UTR|CCNC_ENST00000523799.1_5'UTR|CCNC_ENST00000520371.1_Silent_p.A50A|CCNC_ENST00000482541.2_Silent_p.A50A|CCNC_ENST00000518714.1_Silent_p.A50A|CCNC_ENST00000521017.1_5'UTR|CCNC_ENST00000369220.4_Silent_p.A50A	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C	50	Cyclin N-terminal.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|mediator complex (GO:0016592)|nucleoplasm (GO:0005654)		p.A50A(1)					all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		GTTCACCTAATGCTTGGATAA	0.279																																					GBM(57;273 1020 40094 44454 49348)												1	Substitution - coding silent(1)	kidney(1)											83.0	93.0	90.0					6																	100009547		2203	4298	6501	SO:0001819	synonymous_variant	892				CCDS34502.1, CCDS47461.1	6q21	2008-02-05			ENSG00000112237	ENSG00000112237			1581	protein-coding gene	gene with protein product		123838				1833066	Standard	XM_005267202		Approved	CycC	uc003pqe.3	P24863	OTTHUMG00000015268	ENST00000520429.1:c.150A>T	6.37:g.100009547T>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DPZ1|Q9H543	Silent	SNP	ENST00000520429.1	37	CCDS34502.1																																																																																				0.279	CCNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041613.2		NM_005190	
CHD9	80205	hgsc.bcm.edu;ucsc.edu	37	16	53296952	53296952	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr16:53296952delC	ENST00000398510.3	+	19	4350	c.4263delC	c.(4261-4263)aacfs	p.N1421fs	CHD9_ENST00000564845.1_Frame_Shift_Del_p.N1421fs|CHD9_ENST00000447540.1_Frame_Shift_Del_p.N1421fs|CHD9_ENST00000566029.1_Frame_Shift_Del_p.N1421fs			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1421					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ATGATCCCAACTTCTGGCAAA	0.363																																																	0													109.0	101.0	104.0					16																	53296952		1835	4091	5926	SO:0001589	frameshift_variant	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.4263delC	16.37:g.53296952delC	ENSP00000381522:p.Asn1421fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Frame_Shift_Del	DEL	ENST00000398510.3	37																																																																																					0.363	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1		NM_025134	
CLCA1	1179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	86947888	86947888	+	Splice_Site	SNP	A	A	G			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr1:86947888A>G	ENST00000234701.3	+	6	909	c.558A>G	c.(556-558)agA>agG	p.R186R	CLCA1_ENST00000394711.1_Splice_Site_p.R186R			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	186	Metalloprotease domain. {ECO:0000269|PubMed:23112050}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)	p.R186R(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		ATATTTTCAGATGTTCAGCAG	0.393																																																	1	Substitution - coding silent(1)	kidney(1)											76.0	70.0	72.0					1																	86947888		2203	4300	6503	SO:0001630	splice_region_variant	1179				CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.558-1A>G	1.37:g.86947888A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Silent	SNP	ENST00000234701.3	37	CCDS709.1																																																																																				0.393	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1		NM_001285	Silent
EHBP1	23301	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	63101527	63101527	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr2:63101527T>A	ENST00000263991.5	+	11	1632	c.1150T>A	c.(1150-1152)Ttg>Atg	p.L384M	EHBP1_ENST00000354487.3_Missense_Mutation_p.L349M|EHBP1_ENST00000405289.1_Missense_Mutation_p.L349M|EHBP1_ENST00000431489.1_Missense_Mutation_p.L349M|EHBP1_ENST00000405015.3_Missense_Mutation_p.L349M	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	384						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.L384M(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TCCAAATAATTTGGTAAATCC	0.353																																																	1	Substitution - Missense(1)	kidney(1)											86.0	94.0	91.0					2																	63101527		2203	4300	6503	SO:0001583	missense	23301			AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.1150T>A	2.37:g.63101527T>A	ENSP00000263991:p.Leu384Met	Somatic		WXS	Illumina HiSeq	Phase_I	O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	T	16.18	3.051444	0.55218	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.78;-0.78	5.13	5.13	0.70059	.	0.555074	0.17714	N	0.164465	T	0.71204	0.3312	L	0.40543	1.245	0.26771	N	0.96981	P;B;P	0.47409	0.895;0.32;0.832	P;B;B	0.50136	0.632;0.176;0.332	T	0.65076	-0.6256	10	0.48119	T	0.1	.	7.944	0.29976	0.0:0.0932:0.0:0.9067	.	349;349;384	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	M	349;349;384;349;349	ENSP00000384143:L349M;ENSP00000403783:L349M;ENSP00000263991:L384M;ENSP00000346482:L349M;ENSP00000385524:L349M	ENSP00000263991:L384M	L	+	1	2	EHBP1	62955031	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	1.680000	0.37607	2.068000	0.61886	0.528000	0.53228	TTG		0.353	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1		NM_015252	
EIF5	1983	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	103802419	103802419	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr14:103802419T>C	ENST00000216554.3	+	4	795	c.119T>C	c.(118-120)gTt>gCt	p.V40A	EIF5_ENST00000560200.1_Intron|EIF5_ENST00000558506.1_Missense_Mutation_p.V40A|EIF5_ENST00000392715.2_Missense_Mutation_p.V40A|SNORA28_ENST00000606769.1_RNA	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	40					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.V40A(1)		breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			GTCAACATGGTTGACGTTGCA	0.418																																																	1	Substitution - Missense(1)	kidney(1)											70.0	63.0	65.0					14																	103802419		2203	4300	6503	SO:0001583	missense	1983			U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.119T>C	14.37:g.103802419T>C	ENSP00000216554:p.Val40Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q53XB3|Q9H5N2|Q9UG48	Missense_Mutation	SNP	ENST00000216554.3	37	CCDS9980.1	.	.	.	.	.	.	.	.	.	.	.	11.86	1.764435	0.31228	.	.	ENSG00000100664	ENST00000216554;ENST00000392715	T;T	0.39997	1.05;1.05	6.0	6.0	0.97389	Translation initiation factor IF2/IF5, N-terminal (2);Translation initiation factor IF2/IF5 (2);	0.000000	0.85682	D	0.000000	T	0.24699	0.0599	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.15870	0.014	T	0.13602	-1.0503	10	0.11182	T	0.66	-2.1394	16.56	0.84537	0.0:0.0:0.0:1.0	.	40	P55010	IF5_HUMAN	A	40	ENSP00000216554:V40A;ENSP00000376477:V40A	ENSP00000216554:V40A	V	+	2	0	EIF5	102872172	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.831000	0.86748	2.313000	0.78055	0.454000	0.30748	GTT		0.418	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2		NM_001969	
ERBB2	2064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	37866350	37866350	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr17:37866350G>A	ENST00000269571.5	+	6	814	c.655G>A	c.(655-657)Gtc>Atc	p.V219I	ERBB2_ENST00000540147.1_Missense_Mutation_p.V189I|ERBB2_ENST00000406381.2_Missense_Mutation_p.V189I|ERBB2_ENST00000540042.1_Missense_Mutation_p.V189I|ERBB2_ENST00000584450.1_Missense_Mutation_p.V219I|ERBB2_ENST00000578199.1_Missense_Mutation_p.V189I|ERBB2_ENST00000541774.1_Missense_Mutation_p.V204I|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000584601.1_Missense_Mutation_p.V189I			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	219					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.V219I(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GACGCGCACTGTCTGTGCCGG	0.657		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	1	Substitution - Missense(1)	kidney(1)											59.0	61.0	60.0					17																	37866350		2203	4299	6502	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.655G>A	17.37:g.37866350G>A	ENSP00000269571:p.Val219Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602141	0.46423	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0	5.62	-4.49	0.03504	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.24774	0.0601	N	0.01529	-0.815	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.06405	0.0;0.0;0.0;0.002	T	0.39272	-0.9622	9	0.02654	T	1	.	9.3559	0.38166	0.7355:0.1101:0.1544:0.0	.	189;204;219;219	F5H1T4;P04626-4;P04626;Q9UK79	.;.;ERBB2_HUMAN;.	I	189;204;219;189;189	ENSP00000385185:V189I;ENSP00000446466:V204I;ENSP00000269571:V219I;ENSP00000443562:V189I;ENSP00000446382:V189I	ENSP00000269571:V219I	V	+	1	0	ERBB2	35119876	0.002000	0.14202	0.000000	0.03702	0.406000	0.30931	0.189000	0.17037	-0.734000	0.04843	0.467000	0.42956	GTC		0.657	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			
ACSM3	6296	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	20802204	20802204	+	Intron	SNP	C	C	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr16:20802204C>A	ENST00000289416.5	+	10	1801				ACSM3_ENST00000450120.2_Intron|ACSM3_ENST00000567387.1_Intron|ERI2_ENST00000300005.3_Silent_p.G261G	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3						cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)	p.G261G(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						CATGCTGGTCCCCTGAGGCCA	0.448																																																	1	Substitution - coding silent(1)	kidney(1)											102.0	111.0	108.0					16																	20802204		2201	4300	6501	SO:0001627	intron_variant	112479			D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.1326+194C>A	16.37:g.20802204C>A		Somatic		WXS	Illumina HiSeq	Phase_I	O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Silent	SNP	ENST00000289416.5	37	CCDS10589.1																																																																																				0.448	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2		NM_005622	
FAM21A	387680	hgsc.bcm.edu	37	10	47909179	47909181	+	In_Frame_Del	DEL	ATA	ATA	-			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	ATA	ATA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr10:47909179_47909181delATA	ENST00000358474.5	+	10	749_751	c.749_751delATA	c.(748-753)gataac>gac	p.N251del		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN		251					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GATGAAGAGGATAACTTATTCAC	0.502																																																	0																																										SO:0001651	inframe_deletion	55747																														ENST00000358474.5:c.749_751delATA	10.37:g.47909179_47909181delATA	ENSP00000351259:p.Asn251del	Somatic		WXS	Illumina HiSeq	Phase_I		In_Frame_Del	DEL	ENST00000358474.5	37	CCDS44379.1																																																																																				0.502	FAM21B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047871.2			
BRINP2	57795	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	177250548	177250548	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr1:177250548C>T	ENST00000361539.4	+	8	2548	c.2236C>T	c.(2236-2238)Cgg>Tgg	p.R746W	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	746					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.R746W(1)									CTGCTTGCTCCGGCATCGGCT	0.557																																																	1	Substitution - Missense(1)	kidney(1)											81.0	75.0	77.0					1																	177250548		2203	4300	6503	SO:0001583	missense	57795				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.2236C>T	1.37:g.177250548C>T	ENSP00000354481:p.Arg746Trp	Somatic		WXS	Illumina HiSeq	Phase_I	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184485	0.78677	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.19105	2.17	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.47078	0.1426	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.48917	-0.8992	10	0.87932	D	0	-25.3023	17.9969	0.89187	0.0:1.0:0.0:0.0	.	641;746	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	W	499;746	ENSP00000354481:R746W	ENSP00000354481:R746W	R	+	1	2	FAM5B	175517171	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.767000	0.62286	2.346000	0.79739	0.313000	0.20887	CGG		0.557	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1		NM_021165	
FGF6	2251	broad.mit.edu	37	12	4554409	4554409	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr12:4554409G>T	ENST00000228837.2	-	1	371	c.328C>A	c.(328-330)Cac>Aac	p.H110N		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	110					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)	p.H110N(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TTCTCCTCGTGGGTCCCGCTG	0.637																																																	1	Substitution - Missense(1)	kidney(1)											26.0	25.0	25.0					12																	4554409		2201	4300	6501	SO:0001583	missense	2251			X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"""Endogenous ligands"""	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.328C>A	12.37:g.4554409G>T	ENSP00000228837:p.His110Asn	Somatic		WXS	Illumina GAIIx	Phase_I	Q0VAE1	Missense_Mutation	SNP	ENST00000228837.2	37	CCDS8527.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347987	0.82132	.	.	ENSG00000111241	ENST00000228837	T	0.81078	-1.45	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.92107	0.7498	M	0.91196	3.185	0.80722	D	1	D	0.67145	0.996	D	0.72982	0.979	D	0.93028	0.6446	10	0.62326	D	0.03	.	19.6251	0.95674	0.0:0.0:1.0:0.0	.	110	P10767	FGF6_HUMAN	N	110	ENSP00000228837:H110N	ENSP00000228837:H110N	H	-	1	0	FGF6	4424670	1.000000	0.71417	0.993000	0.49108	0.894000	0.52154	9.869000	0.99810	2.636000	0.89361	0.655000	0.94253	CAC		0.637	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1		NM_020996	
GABRQ	55879	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	151818948	151818948	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chrX:151818948T>C	ENST00000370306.2	+	7	826	c.806T>C	c.(805-807)cTt>cCt	p.L269P		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	269					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)	p.L269P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AACAGCTACCTTGTGCAAGTC	0.498																																																	1	Substitution - Missense(1)	kidney(1)											363.0	294.0	317.0					X																	151818948		2203	4300	6503	SO:0001583	missense	55879			U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.806T>C	X.37:g.151818948T>C	ENSP00000359329:p.Leu269Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.346939	0.61183	.	.	ENSG00000147402	ENST00000370306	D	0.85629	-2.01	6.08	6.08	0.98989	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.45606	D	0.000343	D	0.91294	0.7255	M	0.84846	2.72	0.80722	D	1	D	0.65815	0.995	P	0.57244	0.816	D	0.92503	0.6010	10	0.87932	D	0	.	13.2767	0.60191	0.0:0.0:0.0:1.0	.	269	Q9UN88	GBRT_HUMAN	P	269	ENSP00000359329:L269P	ENSP00000359329:L269P	L	+	2	0	GABRQ	151569604	1.000000	0.71417	0.438000	0.26821	0.254000	0.26022	8.020000	0.88740	2.044000	0.60594	0.486000	0.48141	CTT		0.498	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2		NM_018558	
GBA	2629	broad.mit.edu	37	1	155205493	155205493	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr1:155205493A>T	ENST00000327247.5	-	10	1599	c.1367T>A	c.(1366-1368)tTc>tAc	p.F456Y	GBA_ENST00000493842.1_5'Flank|GBA_ENST00000428024.3_Missense_Mutation_p.F369Y|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000536770.1_Missense_Mutation_p.F343Y|GBA_ENST00000427500.3_Missense_Mutation_p.F407Y|GBA_ENST00000368373.3_Missense_Mutation_p.F456Y	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	456			F -> V (in GD).		carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)	p.F456Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	AAGGTGGTAGAACATGGGCTG	0.532									Gaucher disease type I																																								1	Substitution - Missense(1)	kidney(1)											111.0	83.0	93.0					1																	155205493		2203	4299	6502	SO:0001583	missense	2629	Familial Cancer Database	glucocerebrosidase insufficiency	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"""glucosylceramidase"", ""glucosidase, beta; acid (includes glucosylceramidase)"""	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.1367T>A	1.37:g.155205493A>T	ENSP00000314508:p.Phe456Tyr	Somatic		WXS	Illumina GAIIx	Phase_I	A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Missense_Mutation	SNP	ENST00000327247.5	37	CCDS1102.1	.	.	.	.	.	.	.	.	.	.	.	18.91	3.723192	0.68959	.	.	ENSG00000177628	ENST00000427500;ENST00000428024;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000536555;ENST00000402928	D;D;D;D;D	0.99552	-6.15;-6.15;-6.15;-6.15;-6.15	3.53	3.53	0.40419	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	D	0.000001	D	0.97654	0.9231	N	0.16130	0.375	0.58432	D	0.999993	P;P;P	0.45044	0.688;0.818;0.849	P;P;P	0.52627	0.669;0.704;0.647	D	0.97559	1.0097	10	0.28530	T	0.3	.	10.3278	0.43805	1.0:0.0:0.0:0.0	.	407;343;456	B7Z5G2;F5H241;P04062	.;.;GLCM_HUMAN	Y	407;369;456;456;343;413;441	ENSP00000402577:F407Y;ENSP00000397986:F369Y;ENSP00000357357:F456Y;ENSP00000314508:F456Y;ENSP00000445560:F343Y	ENSP00000314508:F456Y	F	-	2	0	GBA	153472117	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.533000	0.90617	1.600000	0.50102	0.392000	0.25879	TTC		0.532	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1		NM_000157	
GLB1	2720	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	33093265	33093265	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr3:33093265A>C	ENST00000399402.3	-	9	981	c.850T>G	c.(850-852)Ttt>Gtt	p.F284V	GLB1_ENST00000307377.8_Missense_Mutation_p.F183V|GLB1_ENST00000445488.2_Missense_Mutation_p.F362V|GLB1_ENST00000307363.5_Missense_Mutation_p.F314V	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	314					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)	p.F314V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				CAATAGGCAAAATTGGTCCCA	0.433																																																	1	Substitution - Missense(1)	kidney(1)											86.0	82.0	83.0					3																	33093265		1872	4106	5978	SO:0001583	missense	2720			M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.850T>G	3.37:g.33093265A>C	ENSP00000382333:p.Phe284Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	ENST00000399402.3	37	CCDS43062.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.812822	0.90707	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000307377;ENST00000415454	D;D;D;D;D	0.99207	-5.56;-5.56;-5.56;-5.56;-5.56	5.71	5.71	0.89125	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99704	0.9887	H	0.98738	4.315	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.97133	0.9819	10	0.87932	D	0	-23.0575	15.6498	0.77081	1.0:0.0:0.0:0.0	.	314;183;314;362	Q53G40;E7EQ29;P16278;B7Z6Q5	.;.;BGAL_HUMAN;.	V	284;314;362;183;155	ENSP00000382333:F284V;ENSP00000306920:F314V;ENSP00000393377:F362V;ENSP00000305920:F183V;ENSP00000411813:F155V	ENSP00000306920:F314V	F	-	1	0	GLB1	33068269	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.821000	0.92009	2.172000	0.68678	0.533000	0.62120	TTT		0.433	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2		NM_000404	
GRM6	2916	hgsc.bcm.edu	37	5	178410194	178410195	+	Frame_Shift_Ins	INS	-	-	C	rs572341483		TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr5:178410194_178410195insC	ENST00000517717.1	-	10	2190_2191	c.2152_2153insG	c.(2152-2154)gccfs	p.A718fs	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Frame_Shift_Ins_p.A718fs			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	718					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TGGGGGCCGGGCCCCCAGCCAT	0.614																																																	0																																										SO:0001589	frameshift_variant	2916			U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2153dupG	5.37:g.178410199_178410199dupC	ENSP00000430767:p.Ala718fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Ins	INS	ENST00000517717.1	37	CCDS4442.1																																																																																				0.614	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			
HGFAC	3083	broad.mit.edu;ucsc.edu	37	4	3446996	3446996	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr4:3446996delC	ENST00000382774.3	+	9	1136	c.1021delC	c.(1021-1023)ccgfs	p.P341fs	HGFAC_ENST00000511533.1_Frame_Shift_Del_p.P341fs	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	341	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCGCAGGAATCCGGACAATGA	0.697																																																	0													43.0	32.0	36.0					4																	3446996		2183	4288	6471	SO:0001589	frameshift_variant	3083			D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.1021delC	4.37:g.3446996delC	ENSP00000372224:p.Pro341fs	Somatic		WXS	Illumina GAIIx	Phase_I	Q14726|Q2M1W7|Q53X47	Frame_Shift_Del	DEL	ENST00000382774.3	37	CCDS3369.1																																																																																				0.697	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			
HIP1R	9026	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	123343990	123343990	+	Silent	SNP	C	C	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr12:123343990C>T	ENST00000253083.4	+	23	2438	c.2313C>T	c.(2311-2313)agC>agT	p.S771S		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	771	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)	p.S771S(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		AACCCAAGAGCCTAGATGTGC	0.632																																																	1	Substitution - coding silent(1)	kidney(1)											49.0	56.0	54.0					12																	123343990		2203	4300	6503	SO:0001819	synonymous_variant	9026			AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.2313C>T	12.37:g.123343990C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NHQ6|Q6NXG8|Q9UED9	Silent	SNP	ENST00000253083.4	37	CCDS31922.1																																																																																				0.632	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1		NM_003959	
HLA-A	3105	hgsc.bcm.edu	37	6	29910622	29910622	+	Silent	SNP	C	C	T	rs199501996	byFrequency	TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr6:29910622C>T	ENST00000396634.1	+	4	503	c.162C>T	c.(160-162)gaC>gaT	p.D54D	HLA-A_ENST00000376809.5_Silent_p.D54D|HLA-A_ENST00000376802.2_Silent_p.D54D|HLA-A_ENST00000376806.5_Silent_p.D54D			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	54	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.D54D(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						ACGTGGACGACACGCAGTTCG	0.687									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							2	Substitution - coding silent(2)	prostate(2)											47.0	40.0	42.0					6																	29910622		2202	4299	6501	SO:0001819	synonymous_variant	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.162C>T	6.37:g.29910622C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	CCDS34373.1																																																																																				0.687	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1		NM_002116	
HOXB4	3214	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	46654154	46654154	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr17:46654154C>T	ENST00000332503.5	-	2	2477	c.686G>A	c.(685-687)cGc>cAc	p.R229H	HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000311626.4_5'Flank|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000485909.2_5'Flank|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000490677.1_5'Flank	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	229					anterior/posterior pattern specification (GO:0009952)|bone marrow development (GO:0048539)|cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|hematopoietic stem cell differentiation (GO:0060218)|morphogenesis of an epithelial sheet (GO:0002011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell division (GO:0048103)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R229H(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						ACCACCCGAGCGGATCTTGGT	0.677																																																	1	Substitution - Missense(1)	kidney(1)											49.0	52.0	51.0					17																	46654154		2203	4300	6503	SO:0001583	missense	3214				CCDS11529.1	17q21.32	2011-06-20	2005-12-22		ENSG00000182742	ENSG00000182742		"""Homeoboxes / ANTP class : HOXL subclass"""	5115	protein-coding gene	gene with protein product		142965	"""homeo box B4"""	HOX2, HOX2F		1973146, 1358459	Standard	NM_024015		Approved		uc002inp.3	P17483	OTTHUMG00000159920	ENST00000332503.5:c.686G>A	17.37:g.46654154C>T	ENSP00000328928:p.Arg229His	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NTA0	Missense_Mutation	SNP	ENST00000332503.5	37	CCDS11529.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431085	0.83776	.	.	ENSG00000182742	ENST00000332503	D	0.91843	-2.92	5.78	5.78	0.91487	Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.94215	0.8143	L	0.36672	1.1	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	D	0.94509	0.7717	10	0.66056	D	0.02	.	18.7829	0.91941	0.0:1.0:0.0:0.0	.	229	P17483	HXB4_HUMAN	H	229	ENSP00000328928:R229H	ENSP00000328928:R229H	R	-	2	0	HOXB4	44009153	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.779000	0.85648	2.724000	0.93272	0.555000	0.69702	CGC		0.677	HOXB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358259.2			
HR	55806	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	21985225	21985225	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr8:21985225C>A	ENST00000381418.4	-	3	2210	c.730G>T	c.(730-732)Gaa>Taa	p.E244*	HR_ENST00000518377.1_5'Flank|HR_ENST00000312841.8_Nonsense_Mutation_p.E244*	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	244					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.E244*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GAAGGGCGTTCGGCCTCCCCG	0.632																																																	1	Substitution - Nonsense(1)	kidney(1)											79.0	92.0	87.0					8																	21985225		2203	4300	6503	SO:0001587	stop_gained	55806			AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.730G>T	8.37:g.21985225C>A	ENSP00000370826:p.Glu244*	Somatic		WXS	Illumina HiSeq	Phase_I	Q6GS30|Q96H33|Q9NPE1	Nonsense_Mutation	SNP	ENST00000381418.4	37	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	46	12.806780	0.99698	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	.	.	.	5.5	4.62	0.57501	.	0.304535	0.28247	N	0.016055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-5.3025	12.6878	0.56958	0.0:0.8343:0.1657:0.0	.	.	.	.	X	244	.	ENSP00000326765:E244X	E	-	1	0	HR	22041170	0.082000	0.21442	0.025000	0.17156	0.002000	0.02628	2.541000	0.45735	1.445000	0.47624	0.462000	0.41574	GAA		0.632	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			
FCGR3A	2214	broad.mit.edu	37	1	161576641	161576641	+	Intron	SNP	G	G	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr1:161576641G>T	ENST00000540048.1	-	2	94				RP11-25K21.6_ENST00000537821.2_RNA|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Intron			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCTATGGGCTGGACCGGCGGG	0.652																																																	0																																										SO:0001627	intron_variant	3311			BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+23516C>A	1.37:g.161576641G>T		Somatic		WXS	Illumina GAIIx	Phase_I	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Silent	SNP	ENST00000540048.1	37																																																																																					0.652	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_000569	
ILVBL	10994	broad.mit.edu;hgsc.bcm.edu	37	19	15227242	15227242	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr19:15227242G>T	ENST00000263383.3	-	11	1417	c.1278C>A	c.(1276-1278)gaC>gaA	p.D426E	ILVBL_ENST00000534378.1_Missense_Mutation_p.D319E|ILVBL_ENST00000531635.1_5'Flank	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	426						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)	p.D426E(1)		NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CCTTCTGCCGGTCGGCTTCCC	0.652																																																	1	Substitution - Missense(1)	kidney(1)											64.0	66.0	65.0					19																	15227242		2203	4300	6503	SO:0001583	missense	10994			U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.1278C>A	19.37:g.15227242G>T	ENSP00000263383:p.Asp426Glu	Somatic		WXS	Illumina HiSeq	Phase_I	O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	G	9.104	1.004825	0.19199	.	.	ENSG00000105135	ENST00000263383	T	0.40756	1.02	5.41	3.29	0.37713	.	0.000000	0.85682	D	0.000000	T	0.34571	0.0902	L	0.55481	1.735	0.47905	D	0.999548	B	0.32939	0.391	B	0.31686	0.134	T	0.12041	-1.0563	10	0.48119	T	0.1	-38.8082	7.6203	0.28181	0.2606:0.0:0.7393:0.0	.	426	A1L0T0	ILVBL_HUMAN	E	426	ENSP00000263383:D426E	ENSP00000263383:D426E	D	-	3	2	ILVBL	15088242	0.795000	0.28851	0.903000	0.35520	0.260000	0.26232	1.173000	0.31920	0.670000	0.31165	-0.254000	0.11334	GAC		0.652	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1		NM_006844	
KATNA1	11104	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	149944376	149944376	+	Missense_Mutation	SNP	C	C	A	rs142263647		TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr6:149944376C>A	ENST00000335647.5	-	3	408	c.364G>T	c.(364-366)Gac>Tac	p.D122Y	KATNA1_ENST00000367411.2_Missense_Mutation_p.D122Y|KATNA1_ENST00000494504.1_5'Flank|KATNA1_ENST00000335643.8_Missense_Mutation_p.D122Y					katanin p60 (ATPase containing) subunit A 1									p.D122Y(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		GATTTAGGGTCACTGTACTGA	0.418																																																	1	Substitution - Missense(1)	kidney(1)											224.0	170.0	188.0					6																	149944376		2203	4300	6503	SO:0001583	missense	11104			AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"""ATPases / AAA-type"""	6216	protein-coding gene	gene with protein product		606696	"""katanin p60 (ATPase-containing) subunit A 1"""			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335647.5:c.364G>T	6.37:g.149944376C>A	ENSP00000335106:p.Asp122Tyr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000335647.5	37	CCDS5217.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238859	0.79800	.	.	ENSG00000186625	ENST00000335647;ENST00000335643;ENST00000367411;ENST00000444282;ENST00000420200	D;D;D;D	0.95788	-3.4;-3.5;-3.4;-3.81	6.08	6.08	0.98989	.	0.359941	0.33938	N	0.004419	D	0.94941	0.8364	L	0.54323	1.7	0.80722	D	1	P;P;P	0.49559	0.604;0.925;0.61	P;P;B	0.49953	0.498;0.627;0.265	D	0.93339	0.6708	9	.	.	.	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	122;122;122	A8K7S5;O75449-2;O75449	.;.;KTNA1_HUMAN	Y	122	ENSP00000335106:D122Y;ENSP00000335180:D122Y;ENSP00000356381:D122Y;ENSP00000390322:D122Y	.	D	-	1	0	KATNA1	149986069	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	4.959000	0.63666	2.894000	0.99253	0.591000	0.81541	GAC		0.418	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042641.2		NM_007044	
KBTBD7	84078	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	41767262	41767262	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr13:41767262G>T	ENST00000379483.3	-	1	1440	c.1132C>A	c.(1132-1134)Cac>Aac	p.H378N		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	378								p.H378N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GTCTTAGTGTGAGCAAAGCTG	0.502																																																	1	Substitution - Missense(1)	kidney(1)											89.0	78.0	82.0					13																	41767262		2203	4300	6503	SO:0001583	missense	84078			AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1132C>A	13.37:g.41767262G>T	ENSP00000368797:p.His378Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	G	0.095	-1.161465	0.01673	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.74737	-0.87	4.9	4.06	0.47325	Kelch-type beta propeller (1);	0.282228	0.33199	U	0.005162	T	0.61652	0.2364	L	0.33485	1.01	0.32038	N	0.59858	B	0.21520	0.057	B	0.16722	0.016	T	0.61860	-0.6976	10	0.28530	T	0.3	.	10.9899	0.47543	0.092:0.0:0.908:0.0	.	378	Q8WVZ9	KBTB7_HUMAN	N	378;280	ENSP00000368797:H378N	ENSP00000368797:H378N	H	-	1	0	KBTBD7	40665262	1.000000	0.71417	0.995000	0.50966	0.066000	0.16364	5.042000	0.64202	1.051000	0.40369	-0.262000	0.10625	CAC		0.502	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1		NM_032138	
KCTD8	386617	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	44450161	44450161	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr4:44450161T>C	ENST00000360029.3	-	1	663	c.380A>G	c.(379-381)aAg>aGg	p.K127R	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	127					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)		p.K127R(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CAGCCGCTCCTTCTCGGGGAA	0.617										HNSCC(17;0.042)																																							1	Substitution - Missense(1)	kidney(1)											23.0	22.0	23.0					4																	44450161		2170	4251	6421	SO:0001583	missense	386617			AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.380A>G	4.37:g.44450161T>C	ENSP00000353129:p.Lys127Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	T	3.182	-0.167628	0.06461	.	.	ENSG00000183783	ENST00000360029	T	0.40756	1.02	4.03	2.85	0.33270	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.073501	0.53938	D	0.000056	T	0.19765	0.0475	N	0.10782	0.045	0.26983	N	0.965325	B	0.13594	0.008	B	0.15484	0.013	T	0.21415	-1.0246	10	0.12430	T	0.62	.	8.405	0.32610	0.0:0.0947:0.0:0.9053	.	127	Q6ZWB6	KCTD8_HUMAN	R	127	ENSP00000353129:K127R	ENSP00000353129:K127R	K	-	2	0	KCTD8	44144918	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.457000	0.45005	0.615000	0.30124	0.477000	0.44152	AAG		0.617	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			
KDM3A	55818	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	86712976	86712976	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr2:86712976G>A	ENST00000409556.1	+	22	3672	c.3307G>A	c.(3307-3309)Gct>Act	p.A1103T	KDM3A_ENST00000542128.1_Missense_Mutation_p.A1051T|KDM3A_ENST00000312912.5_Missense_Mutation_p.A1103T|KDM3A_ENST00000409064.1_Missense_Mutation_p.A1103T			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1103	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.A1103T(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GATGTATAATGCTTATGGTAA	0.438																																					NSCLC(96;1150 1523 6936 46253 49736)												2	Substitution - Missense(2)	kidney(2)											70.0	67.0	68.0					2																	86712976		2203	4300	6503	SO:0001583	missense	55818			AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.3307G>A	2.37:g.86712976G>A	ENSP00000386660:p.Ala1103Thr	Somatic		WXS	Illumina HiSeq	Phase_I	D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	G	35	5.565116	0.96527	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78	5.73	5.73	0.89815	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.93099	0.7803	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93711	0.7024	10	0.87932	D	0	.	19.2479	0.93909	0.0:0.0:1.0:0.0	.	1051;1103	F5H070;Q9Y4C1	.;KDM3A_HUMAN	T	1103;1103;1103;1103;1051	ENSP00000386660:A1103T;ENSP00000323659:A1103T;ENSP00000386516:A1103T;ENSP00000438324:A1051T	ENSP00000323659:A1103T	A	+	1	0	KDM3A	86566487	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.813000	0.99286	2.861000	0.98227	0.655000	0.94253	GCT		0.438	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2		NM_018433	
KIAA0319L	79932	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	35917273	35917273	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr1:35917273C>T	ENST00000325722.3	-	13	2252	c.2018G>A	c.(2017-2019)aGg>aAg	p.R673K	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Missense_Mutation_p.R110K	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	673	PKD 4. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R673K(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTGCAGGTTCCTCTCATCTTT	0.502											OREG0013354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - Missense(2)	kidney(2)											188.0	175.0	180.0					1																	35917273		2203	4300	6503	SO:0001583	missense	79932			AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.2018G>A	1.37:g.35917273C>T	ENSP00000318406:p.Arg673Lys	Somatic	859	WXS	Illumina HiSeq	Phase_I	B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	37	CCDS390.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155145	0.78114	.	.	ENSG00000142687	ENST00000325722;ENST00000373266;ENST00000426982;ENST00000440579	T;T;T;T	0.69175	2.6;-0.38;2.6;-0.36	5.98	5.98	0.97165	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD/REJ-like protein (1);PKD domain (1);	0.000000	0.85682	D	0.000000	T	0.67411	0.2890	N	0.11000	0.08	0.80722	D	1	D;D;P	0.71674	0.998;0.987;0.702	D;P;B	0.77557	0.99;0.856;0.421	T	0.64002	-0.6509	10	0.16420	T	0.52	-18.2464	19.4463	0.94849	0.0:1.0:0.0:0.0	.	673;673;115	Q8IZA0-2;Q8IZA0;Q8IZA0-3	.;K319L_HUMAN;.	K	673;110;673;673	ENSP00000318406:R673K;ENSP00000362363:R110K;ENSP00000395883:R673K;ENSP00000407576:R673K	ENSP00000318406:R673K	R	-	2	0	KIAA0319L	35689860	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.826000	0.55738	2.835000	0.97688	0.650000	0.86243	AGG		0.502	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2		NM_024874	
KLHL6	89857	broad.mit.edu;ucsc.edu	37	3	183211912	183211912	+	Silent	SNP	G	G	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr3:183211912G>T	ENST00000341319.3	-	5	1340	c.1305C>A	c.(1303-1305)atC>atA	p.I435I		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	435					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)			p.I435I(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CCACATTGTTGATTCTCTGTA	0.453																																																	1	Substitution - coding silent(1)	kidney(1)											256.0	239.0	245.0					3																	183211912		2203	4300	6503	SO:0001819	synonymous_variant	89857			AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1305C>A	3.37:g.183211912G>T		Somatic		WXS	Illumina GAIIx	Phase_I	B2RB31|D3DNS8|Q8N5I1|Q8N892	Silent	SNP	ENST00000341319.3	37	CCDS3245.2																																																																																				0.453	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1		NM_130446	
TRIM46	80128	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155145769	155145771	+	5'Flank	DEL	CTA	CTA	-	rs145673508		TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	CTA	CTA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr1:155145769_155145771delCTA	ENST00000334634.4	+	0	0				TRIM46_ENST00000545012.1_5'Flank|TRIM46_ENST00000392451.2_5'Flank|TRIM46_ENST00000368383.3_5'Flank|KRTCAP2_ENST00000490672.1_5'UTR|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368385.4_5'Flank|TRIM46_ENST00000543729.1_5'Flank|TRIM46_ENST00000368382.1_5'Flank|KRTCAP2_ENST00000295682.4_In_Frame_Del_p.3_4IA>T	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46							intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTGCGGTTAGCTATGCGCATGCG	0.635											OREG0013854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001631	upstream_gene_variant	200185				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680		1.37:g.155145769_155145771delCTA	Exception_encountered	Somatic	1768	WXS	Illumina HiSeq	Phase_I	A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	In_Frame_Del	DEL	ENST00000334634.4	37	CCDS1097.1																																																																																				0.635	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1		NM_025058	
LRRCC1	85444	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	86047101	86047101	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr8:86047101A>G	ENST00000360375.3	+	13	2137	c.1988A>G	c.(1987-1989)aAt>aGt	p.N663S	LRRCC1_ENST00000414626.2_Missense_Mutation_p.N643S	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	663					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.N643S(1)|p.N663S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GGTTTTGAAAATGTTGCAACT	0.308																																																	2	Substitution - Missense(2)	kidney(2)											60.0	57.0	58.0					8																	86047101		1808	4064	5872	SO:0001583	missense	85444			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1988A>G	8.37:g.86047101A>G	ENSP00000353538:p.Asn663Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.114331	0.37339	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.29397	1.57;1.57	5.71	3.35	0.38373	.	0.352416	0.20738	N	0.086596	T	0.27241	0.0668	L	0.60455	1.87	0.27516	N	0.95156	B;B;B;B	0.24426	0.103;0.084;0.103;0.009	B;B;B;B	0.19391	0.025;0.015;0.025;0.007	T	0.18272	-1.0342	10	0.21540	T	0.41	-12.7818	9.8798	0.41227	0.8622:0.0:0.1378:0.0	.	570;643;570;663	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	S	663;643	ENSP00000353538:N663S;ENSP00000394695:N643S	ENSP00000353538:N663S	N	+	2	0	LRRCC1	86234353	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.225000	0.42954	0.447000	0.26695	0.533000	0.62120	AAT		0.308	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1		NM_033402	
MAN2B2	23324	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	6611625	6611625	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr4:6611625G>C	ENST00000285599.3	+	13	2143	c.2107G>C	c.(2107-2109)Gag>Cag	p.E703Q	MAN2B2_ENST00000504960.1_3'UTR|MAN2B2_ENST00000504248.1_Missense_Mutation_p.E652Q	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	703					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.E703Q(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GATAGAGCAGGAGTACCAAGC	0.592																																																	1	Substitution - Missense(1)	kidney(1)											63.0	64.0	64.0					4																	6611625		2203	4300	6503	SO:0001583	missense	23324			BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.2107G>C	4.37:g.6611625G>C	ENSP00000285599:p.Glu703Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	CCDS33951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	7.316|7.316	0.615977|0.615977	0.14129|0.14129	.|.	.|.	ENSG00000013288|ENSG00000013288	ENST00000285599;ENST00000504248|ENST00000505907	D;D|.	0.82619|.	-1.63;-1.63|.	4.28|4.28	0.323|0.323	0.15893|0.15893	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);|.	0.412203|.	0.27185|.	N|.	0.020522|.	T|T	0.32406|0.32406	0.0828|0.0828	L|L	0.39147|0.39147	1.195|1.195	0.22982|0.22982	N|N	0.998477|0.998477	B;B;B|.	0.31153|.	0.31;0.31;0.268|.	B;B;B|.	0.35312|.	0.2;0.2;0.16|.	T|T	0.27054|0.27054	-1.0085|-1.0085	10|5	0.40728|.	T|.	0.16|.	-19.3116|-19.3116	4.9723|4.9723	0.14123|0.14123	0.2466:0.3068:0.4466:0.0|0.2466:0.3068:0.4466:0.0	.|.	652;703;703|.	E9PCD7;Q9Y2E5;Q9Y2E5-2|.	.;MA2B2_HUMAN;.|.	Q|S	703;652|701	ENSP00000285599:E703Q;ENSP00000423129:E652Q|.	ENSP00000285599:E703Q|.	E|R	+|+	1|3	0|2	MAN2B2|MAN2B2	6662526|6662526	1.000000|1.000000	0.71417|0.71417	0.631000|0.631000	0.29282|0.29282	0.054000|0.054000	0.15201|0.15201	2.613000|2.613000	0.46351|0.46351	-0.330000|-0.330000	0.08514|0.08514	-0.308000|-0.308000	0.09152|0.09152	GAG|AGG		0.592	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2		NM_015274	
MXRA5	25878	hgsc.bcm.edu;ucsc.edu	37	X	3240485	3240494	+	Frame_Shift_Del	DEL	TGGAGTGTGT	TGGAGTGTGT	-			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	TGGAGTGTGT	TGGAGTGTGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chrX:3240485_3240494delTGGAGTGTGT	ENST00000217939.6	-	5	3386_3395	c.3232_3241delACACACTCCA	c.(3232-3243)acacactccagafs	p.THSR1078fs		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1078						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCAGAACTTCTGGAGTGTGTGGGGTCTCCC	0.462																																																	0																																										SO:0001589	frameshift_variant	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3232_3241delACACACTCCA	X.37:g.3240485_3240494delTGGAGTGTGT	ENSP00000217939:p.Thr1078fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P1M7|Q9Y3Y8	Frame_Shift_Del	DEL	ENST00000217939.6	37	CCDS14124.1																																																																																				0.462	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2		NM_015419	
MYH2	4620	hgsc.bcm.edu;ucsc.edu	37	17	10427079	10427079	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr17:10427079delA	ENST00000245503.5	-	36	5682	c.5298delT	c.(5296-5298)actfs	p.T1766fs	MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Frame_Shift_Del_p.T1766fs|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1766					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CACTCACATCAGTGATGGCCT	0.443																																																	0													188.0	167.0	174.0					17																	10427079		2203	4300	6503	SO:0001589	frameshift_variant	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5298delT	17.37:g.10427079delA	ENSP00000245503:p.Thr1766fs	Somatic		WXS	Illumina HiSeq	Phase_I	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Frame_Shift_Del	DEL	ENST00000245503.5	37	CCDS11156.1																																																																																				0.443	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3		NM_017534	
MYO16	23026	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	109672228	109672228	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr13:109672228C>T	ENST00000357550.2	+	22	2740	c.2699C>T	c.(2698-2700)aCa>aTa	p.T900I	MYO16_ENST00000457511.2_Missense_Mutation_p.T412I|MYO16_ENST00000251041.5_Missense_Mutation_p.T900I|MYO16_ENST00000356711.2_Missense_Mutation_p.T900I	NM_001198950.1	NP_001185879.1			myosin XVI									p.T900I(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GACCACGGTACAGCCTTCACC	0.463																																																	1	Substitution - Missense(1)	kidney(1)											106.0	93.0	98.0					13																	109672228		2203	4300	6503	SO:0001583	missense	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.2699C>T	13.37:g.109672228C>T	ENSP00000350160:p.Thr900Ile	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	0.661	-0.805785	0.02819	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857;ENST00000457511	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	4.98	3.24	0.37175	Myosin head, motor domain (2);	0.934610	0.08729	U	0.902323	D	0.84088	0.5395	L	0.58302	1.8	0.09310	N	1	B;B;B	0.31383	0.321;0.321;0.14	B;B;B	0.29942	0.071;0.109;0.061	T	0.71451	-0.4589	9	.	.	.	.	9.8618	0.41118	0.0:0.835:0.0:0.165	.	412;900;900	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	I	900;900;900;900;688;412	ENSP00000349145:T900I;ENSP00000350160:T900I;ENSP00000251041:T900I;ENSP00000401633:T412I	.	T	+	2	0	MYO16	108470229	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	1.391000	0.34475	1.097000	0.41459	0.650000	0.86243	ACA		0.463	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1		NM_015011	
MYOF	26509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	95076526	95076526	+	Silent	SNP	G	G	C			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr10:95076526G>C	ENST00000359263.4	-	50	5642	c.5643C>G	c.(5641-5643)ccC>ccG	p.P1881P	MYOF_ENST00000371501.4_Silent_p.P1881P|MYOF_ENST00000358334.5_Silent_p.P1868P|MYOF_ENST00000371502.4_Silent_p.P1871P	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1881					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)	p.P1881P(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGATCAGCCTGGGTGGGATTC	0.408																																																	1	Substitution - coding silent(1)	kidney(1)											133.0	124.0	127.0					10																	95076526		1862	4099	5961	SO:0001819	synonymous_variant	26509			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.5643C>G	10.37:g.95076526G>C		Somatic		WXS	Illumina HiSeq	Phase_I	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	ENST00000359263.4	37	CCDS41551.1																																																																																				0.408	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2		NM_013451	
OAF	220323	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	120096481	120096481	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr11:120096481G>T	ENST00000328965.4	+	2	856	c.343G>T	c.(343-345)Gag>Tag	p.E115*	OAF_ENST00000531220.1_5'UTR	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	115						extracellular vesicular exosome (GO:0070062)		p.E115*(1)		kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		CATCCCCAGTGAGGCCATGGC	0.662																																																	1	Substitution - Nonsense(1)	kidney(1)											117.0	114.0	115.0					11																	120096481		2203	4300	6503	SO:0001587	stop_gained	220323			BC047726	CCDS8430.1	11q23.3	2010-11-23			ENSG00000184232	ENSG00000184232			28752	protein-coding gene	gene with protein product						12477932	Standard	NM_178507		Approved	MGC52117	uc001pxb.3	Q86UD1	OTTHUMG00000166139	ENST00000328965.4:c.343G>T	11.37:g.120096481G>T	ENSP00000332613:p.Glu115*	Somatic		WXS	Illumina HiSeq	Phase_I		Nonsense_Mutation	SNP	ENST00000328965.4	37	CCDS8430.1	.	.	.	.	.	.	.	.	.	.	G	42	9.260924	0.99117	.	.	ENSG00000184232	ENST00000328965	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-36.2836	18.2063	0.89855	0.0:0.0:1.0:0.0	.	.	.	.	X	115	.	ENSP00000332613:E115X	E	+	1	0	OAF	119601691	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.121000	0.94375	2.285000	0.76669	0.561000	0.74099	GAG		0.662	OAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388036.2		NM_178507	
OAS3	4940	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	113379477	113379477	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr12:113379477C>T	ENST00000228928.7	+	2	459	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000551007.1_Missense_Mutation_p.R94C|OAS3_ENST00000546638.1_Intron|OAS3_ENST00000548514.1_Missense_Mutation_p.R94C	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	94	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)	p.R94C(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GAGGGCCCGCCGTGCAGAGAT	0.602																																																	1	Substitution - Missense(1)	kidney(1)											71.0	76.0	75.0					12																	113379477		1967	4157	6124	SO:0001583	missense	4940			AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.280C>T	12.37:g.113379477C>T	ENSP00000228928:p.Arg94Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	CCDS44981.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587372	0.46110	.	.	ENSG00000111331	ENST00000228928;ENST00000551007;ENST00000548514;ENST00000323881	T;T;T	0.27557	1.66;1.66;1.66	3.69	0.649	0.17806	2-5-oligoadenylate synthetase, N-terminal (1);	.	.	.	.	T	0.32615	0.0835	M	0.82630	2.6	0.09310	N	1	B;P;B	0.36944	0.029;0.574;0.398	B;B;B	0.37387	0.003;0.134;0.248	T	0.38200	-0.9672	9	0.87932	D	0	.	2.1811	0.03875	0.201:0.4889:0.1955:0.1146	.	94;94;94	Q9Y6K5;F8VS35;F8VWK9	OAS3_HUMAN;.;.	C	94	ENSP00000228928:R94C;ENSP00000449299:R94C;ENSP00000448388:R94C	ENSP00000228928:R94C	R	+	1	0	OAS3	111863860	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.104000	0.10923	0.015000	0.14971	0.561000	0.74099	CGT		0.602	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			
TENM1	10178	hgsc.bcm.edu	37	X	123654451	123654452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chrX:123654451_123654452insG	ENST00000371130.3	-	18	3279_3280	c.3216_3217insC	c.(3214-3219)cccgccfs	p.A1073fs	TENM1_ENST00000422452.2_Frame_Shift_Ins_p.A1073fs	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1073					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.A1075S(1)									TTAATTGCGGCGGGAAACCACT	0.47																																																	1	Substitution - Missense(1)	lung(1)																																								SO:0001589	frameshift_variant	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3217dupC	X.37:g.123654454_123654454dupG	ENSP00000360171:p.Ala1073fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTR5|Q5JZ17	Frame_Shift_Ins	INS	ENST00000371130.3	37	CCDS14609.1																																																																																				0.470	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1		NM_014253	
OR5D14	219436	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	55563209	55563209	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr11:55563209C>A	ENST00000335605.1	+	1	178	c.178C>A	c.(178-180)Cct>Act	p.P60T		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P60T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ATTTCACACTCCTATGTACTT	0.383																																																	1	Substitution - Missense(1)	kidney(1)											225.0	207.0	213.0					11																	55563209		2200	4296	6496	SO:0001583	missense	219436			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.178C>A	11.37:g.55563209C>A	ENSP00000334456:p.Pro60Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	c	15.12	2.738847	0.49045	.	.	ENSG00000186113	ENST00000335605	T	0.02032	4.49	5.08	4.14	0.48551	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000396	T	0.17023	0.0409	H	0.97340	3.985	0.46131	D	0.998883	D	0.60160	0.987	P	0.56563	0.801	T	0.25222	-1.0138	10	0.72032	D	0.01	-22.368	13.3721	0.60719	0.1589:0.8411:0.0:0.0	.	60	Q8NGL3	OR5DE_HUMAN	T	60	ENSP00000334456:P60T	ENSP00000334456:P60T	P	+	1	0	OR5D14	55319785	1.000000	0.71417	0.926000	0.36857	0.165000	0.22458	5.468000	0.66743	1.095000	0.41419	0.643000	0.83706	CCT		0.383	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1		NM_001004735	
OR5T2	219464	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	55999686	55999686	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr11:55999686G>T	ENST00000313264.4	-	1	1051	c.976C>A	c.(976-978)Ccc>Acc	p.P326T		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	326						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P326T(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TAGATGACGGGATTCAGCAAG	0.348																																																	1	Substitution - Missense(1)	kidney(1)											134.0	120.0	124.0					11																	55999686		2201	4296	6497	SO:0001583	missense	219464			AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.976C>A	11.37:g.55999686G>T	ENSP00000323688:p.Pro326Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255200	0.59321	.	.	ENSG00000181718	ENST00000313264	T	0.63913	-0.07	5.07	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41712	U	0.000822	T	0.75517	0.3860	M	0.72353	2.195	0.34829	D	0.739525	D	0.89917	1.0	D	0.97110	1.0	T	0.82078	-0.0635	10	0.87932	D	0	.	10.9679	0.47422	0.1557:0.0:0.8443:0.0	.	326	Q8NGG2	OR5T2_HUMAN	T	326	ENSP00000323688:P326T	ENSP00000323688:P326T	P	-	1	0	OR5T2	55756262	1.000000	0.71417	0.881000	0.34555	0.705000	0.40729	5.085000	0.64468	0.663000	0.31027	-0.357000	0.07601	CCC		0.348	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1		NM_001004746	
OR7A10	390892	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	14952067	14952067	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr19:14952067C>G	ENST00000248058.1	-	1	622	c.623G>C	c.(622-624)gGt>gCt	p.G208A		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G208A(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					GAGGGGACCACCGCCCAGCAG	0.458																																																	1	Substitution - Missense(1)	kidney(1)											60.0	57.0	58.0					19																	14952067		2203	4300	6503	SO:0001583	missense	390892				CCDS32936.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.623G>C	19.37:g.14952067C>G	ENSP00000248058:p.Gly208Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IFP0|Q96R97	Missense_Mutation	SNP	ENST00000248058.1	37	CCDS32936.1	.	.	.	.	.	.	.	.	.	.	c	3.359	-0.130920	0.06753	.	.	ENSG00000127515	ENST00000248058	T	0.36520	1.25	2.75	-1.59	0.08453	GPCR, rhodopsin-like superfamily (1);	1.827740	0.04072	U	0.308228	T	0.24198	0.0586	N	0.17901	0.54	0.09310	N	1	B	0.18610	0.029	B	0.25291	0.059	T	0.25082	-1.0142	10	0.16420	T	0.52	.	9.1871	0.37176	0.7055:0.2945:0.0:0.0	.	208	O76100	OR7AA_HUMAN	A	208	ENSP00000248058:G208A	ENSP00000248058:G208A	G	-	2	0	OR7A10	14813067	0.000000	0.05858	0.002000	0.10522	0.288000	0.27193	-0.647000	0.05397	0.048000	0.15891	0.134000	0.15878	GGT		0.458	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1		NM_001005190	
OTUD4	54726	broad.mit.edu;hgsc.bcm.edu	37	4	146063450	146063450	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr4:146063450G>A	ENST00000447906.2	-	18	1907	c.1720C>T	c.(1720-1722)Ccc>Tcc	p.P574S	OTUD4_ENST00000454497.2_Missense_Mutation_p.P509S|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	574					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.P508S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ACTAGAAGGGGAGCTGGATTT	0.478																																																	1	Substitution - Missense(1)	kidney(1)											123.0	131.0	129.0					4																	146063450		2203	4300	6503	SO:0001583	missense	54726				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.1720C>T	4.37:g.146063450G>A	ENSP00000395487:p.Pro574Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37		.	.	.	.	.	.	.	.	.	.	G	18.04	3.534047	0.64972	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.32515	1.46;1.45	6.16	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.34803	0.0910	L	0.27053	0.805	0.80722	D	1	D;D	0.67145	0.996;0.993	P;P	0.62298	0.9;0.796	T	0.01553	-1.1326	10	0.06891	T	0.86	-8.3607	15.2384	0.73450	0.0:0.254:0.746:0.0	.	574;573	G3V0I6;Q01804	.;OTUD4_HUMAN	S	509;574	ENSP00000409279:P509S;ENSP00000395487:P574S	ENSP00000395487:P574S	P	-	1	0	OTUD4	146282900	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.508000	0.45450	2.937000	0.99478	0.650000	0.86243	CCC		0.478	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2		NM_017493	
PABPC5	140886	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	90691350	90691350	+	Silent	SNP	C	C	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chrX:90691350C>T	ENST00000312600.3	+	2	988	c.774C>T	c.(772-774)gaC>gaT	p.D258D	PABPC5_ENST00000373105.1_Silent_p.D94D|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	258	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.D258D(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CTGTGCTAGACTTGCATGGAA	0.468																																																	1	Substitution - coding silent(1)	kidney(1)											72.0	71.0	71.0					X																	90691350		2203	4300	6503	SO:0001819	synonymous_variant	140886			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.774C>T	X.37:g.90691350C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K240|Q5JQF4|Q6P529|Q9UFE5	Silent	SNP	ENST00000312600.3	37	CCDS14460.1																																																																																				0.468	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1		NM_080832	
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52595863	52595864	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	TC	TC	TC	-	TC	TC	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr3:52595863_52595864delTC	ENST00000296302.7	-	25	4208_4209	c.4207_4208delGA	c.(4207-4209)gacfs	p.D1403fs	PBRM1_ENST00000409057.1_Frame_Shift_Del_p.D1403fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.D1351fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.D1418fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.D1378fs|SMIM4_ENST00000476842.1_Intron|RNU6ATAC16P_ENST00000408591.1_RNA|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.D1371fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.D1403fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.D1418fs			Q86U86	PB1_HUMAN	polybromo 1	1403					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GAAAGAGTAGTCTGGGTGTTGG	0.5			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	0																																										SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.4207_4208delGA	3.37:g.52595863_52595864delTC	ENSP00000296302:p.Asp1403fs	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.500	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PIK3AP1	118788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	98405300	98405300	+	Silent	SNP	G	G	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr10:98405300G>A	ENST00000339364.5	-	8	1424	c.1305C>T	c.(1303-1305)ctC>ctT	p.L435L	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Silent_p.L257L	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	435					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)	p.L435L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		AGCCGGGGTTGAGCGAGCATT	0.537																																																	1	Substitution - coding silent(1)	kidney(1)											149.0	124.0	132.0					10																	98405300		2203	4300	6503	SO:0001819	synonymous_variant	118788			AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1305C>T	10.37:g.98405300G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Silent	SNP	ENST00000339364.5	37	CCDS31259.1																																																																																				0.537	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2		NM_152309	
PRKDC	5591	hgsc.bcm.edu	37	8	48805816	48805817	+	Splice_Site	INS	-	-	G	rs11411516|rs370106149|rs397814002		TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr8:48805816_48805817insG	ENST00000314191.2	-	31	3785_3786		c.e31+1		PRKDC_ENST00000338368.3_Splice_Site|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide						B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGGCCCCCGAAGTACAAGAGGG	0.589								Non-homologous end-joining					GG|G|GG|deletion	5008	1.0	1.0	1.0	5008	,	,		17564	1.0		1.0	False		,,,				2504	1.0				Esophageal Squamous(79;1091 1253 12329 31680 40677)												0									,	3696,6		1846,4,1					,	5.8	0.0		dbSNP_120	27	7889,3		3943,3,0	no	frameshift,frameshift	PRKDC	NM_006904.6,NM_001081640.1	,	5789,7,1	A1A1,A1R,RR		0.038,0.1621,0.0776	,	,		11585,9				SO:0001630	splice_region_variant	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.3729+1->C	8.37:g.48805817_48805817dupG		Somatic		WXS	Illumina HiSeq	Phase_I	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Ins	INS	ENST00000314191.2	37																																																																																					0.589	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001081640	Intron
PRMT6	55170	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	107599560	107599560	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr1:107599560C>A	ENST00000370078.1	+	1	260	c.223C>A	c.(223-225)Ctt>Att	p.L75I	PRMT6_ENST00000361318.5_Missense_Mutation_p.L16I			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	75	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				base-excision repair (GO:0006284)|histone H3-R2 methylation (GO:0034970)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	histone binding (GO:0042393)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H2A-R3 specific) (GO:0070612)|histone methyltransferase activity (H3-R2 specific) (GO:0070611)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)	p.L16I(1)		biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CCTGGGTATCCTTCGGAACTG	0.662																																																	1	Substitution - Missense(1)	kidney(1)											37.0	44.0	42.0					1																	107599560		2058	4173	6231	SO:0001583	missense	55170			AK001421	CCDS41360.1, CCDS41360.2	1p13.2	2008-02-05	2006-02-16	2006-02-16	ENSG00000198890	ENSG00000198890		"""Protein arginine methyltransferases"""	18241	protein-coding gene	gene with protein product		608274	"""HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae)"""	HRMT1L6		11724789	Standard	NM_018137		Approved	FLJ10559	uc010ous.2	Q96LA8	OTTHUMG00000010964	ENST00000370078.1:c.223C>A	1.37:g.107599560C>A	ENSP00000359095:p.Leu75Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A3KME1|B4DID8|Q5T5Y5|Q6DKI4|Q9NVR8	Missense_Mutation	SNP	ENST00000370078.1	37	CCDS41360.2	.	.	.	.	.	.	.	.	.	.	C	9.958	1.222117	0.22457	.	.	ENSG00000198890	ENST00000361318;ENST00000370078	T;T	0.25749	1.78;1.78	5.11	3.22	0.36961	.	0.176529	0.38217	N	0.001778	T	0.06508	0.0167	L	0.28014	0.82	0.31162	N	0.704278	B	0.28933	0.228	B	0.28553	0.091	T	0.21042	-1.0257	10	0.40728	T	0.16	-5.378	7.8892	0.29667	0.1607:0.7546:0.0:0.0847	.	75	Q96LA8	ANM6_HUMAN	I	16;75	ENSP00000355145:L16I;ENSP00000359095:L75I	ENSP00000355145:L16I	L	+	1	0	PRMT6	107401083	0.678000	0.27586	0.993000	0.49108	0.001000	0.01503	0.583000	0.23849	0.707000	0.31934	-0.277000	0.10078	CTT		0.662	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030185.1		NM_018137	
PURG	29942	broad.mit.edu	37	8	30889379	30889379	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr8:30889379C>G	ENST00000475541.1	-	1	1852	c.920G>C	c.(919-921)tGg>tCg	p.W307S	PURG_ENST00000339382.2_Intron|WRN_ENST00000298139.5_5'Flank	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	307						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		AAACCTTGTCCAAGCTTTGAA	0.388																																																	0													69.0	71.0	70.0					8																	30889379		1327	2309	3636	SO:0001583	missense	29942			AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.920G>C	8.37:g.30889379C>G	ENSP00000418721:p.Trp307Ser	Somatic		WXS	Illumina GAIIx	Phase_I	Q8TE64	Missense_Mutation	SNP	ENST00000475541.1	37	CCDS6081.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609332	0.66558	.	.	ENSG00000172733	ENST00000475541	T	0.32023	1.47	5.2	5.2	0.72013	.	.	.	.	.	T	0.63058	0.2479	M	0.87180	2.865	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.70583	-0.4832	9	0.87932	D	0	.	18.3339	0.90280	0.0:1.0:0.0:0.0	.	307	Q9UJV8	PURG_HUMAN	S	307	ENSP00000418721:W307S	ENSP00000418721:W307S	W	-	2	0	PURG	31008921	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.419000	0.82065	0.655000	0.94253	TGG		0.388	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348565.1		NM_013357	
QTRT1	81890	hgsc.bcm.edu;ucsc.edu	37	19	10818039	10818039	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr19:10818039delG	ENST00000250237.5	+	4	523	c.513delG	c.(511-513)gtgfs	p.V171fs	QTRT1_ENST00000585885.1_3'UTR	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	171					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			GGCCACGTGTGGAGGAGGCCA	0.577																																																	0													358.0	269.0	299.0					19																	10818039		2203	4300	6503	SO:0001589	frameshift_variant	81890			AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"""tRNA-guanine transglycosylase"""	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.513delG	19.37:g.10818039delG	ENSP00000250237:p.Val171fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DFM7|Q96BQ4|Q9BXQ9	Frame_Shift_Del	DEL	ENST00000250237.5	37	CCDS12248.1																																																																																				0.577	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1		NM_031209	
SBK1	388228	broad.mit.edu	37	16	28331871	28331871	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr16:28331871C>T	ENST00000341901.4	+	4	1693	c.904C>T	c.(904-906)Cgc>Tgc	p.R302C		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	302	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R302C(1)		kidney(1)|lung(3)|ovary(1)	5						GGAGCCCGAGCGCCGCGGCCC	0.756																																																	1	Substitution - Missense(1)	kidney(1)											4.0	5.0	5.0					16																	28331871		1553	3318	4871	SO:0001583	missense	388228				CCDS32416.1	16p11.2	2013-09-27	2013-09-27			ENSG00000188322			17699	protein-coding gene	gene with protein product			"""SH3-binding domain kinase 1"""				Standard	XM_005255315		Approved	Sbk	uc002dpd.3	Q52WX2		ENST00000341901.4:c.904C>T	16.37:g.28331871C>T	ENSP00000343248:p.Arg302Cys	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000341901.4	37	CCDS32416.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700113	0.48307	.	.	ENSG00000188322	ENST00000341901	T	0.67171	-0.25	3.98	2.93	0.34026	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.134114	0.46442	D	0.000295	T	0.71169	0.3308	L	0.55103	1.725	0.49130	D	0.999752	D	0.76494	0.999	P	0.60609	0.877	T	0.73000	-0.4120	10	0.87932	D	0	-18.6724	7.8976	0.29715	0.4432:0.5568:0.0:0.0	.	302	Q52WX2	SBK1_HUMAN	C	302	ENSP00000343248:R302C	ENSP00000343248:R302C	R	+	1	0	SBK1	28239372	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.045000	0.41250	1.762000	0.52044	0.456000	0.33151	CGC		0.756	SBK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387677.1		XM_370948	
SIPA1L2	57568	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	232538143	232538143	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr1:232538143G>A	ENST00000366630.1	-	21	5375	c.5017C>T	c.(5017-5019)Cgg>Tgg	p.R1673W	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R1673W|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.R729W			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1673					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.R1673W(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATTACCTTCCGAAGGTCGGTC	0.393																																																	1	Substitution - Missense(1)	kidney(1)											128.0	121.0	123.0					1																	232538143		1836	4083	5919	SO:0001583	missense	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.5017C>T	1.37:g.232538143G>A	ENSP00000355589:p.Arg1673Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332936	0.41297	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.80123	-1.34;-1.34;2.6	5.38	4.46	0.54185	.	0.119442	0.53938	D	0.000043	D	0.82779	0.5111	L	0.47716	1.5	0.23795	N	0.996824	D;D	0.64830	0.99;0.994	B;P	0.55260	0.306;0.772	T	0.76774	-0.2835	10	0.72032	D	0.01	-9.4566	14.3147	0.66440	0.0:0.0:0.7167:0.2833	.	1673;729	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	W	1673;1673;729	ENSP00000355589:R1673W;ENSP00000262861:R1673W;ENSP00000309102:R729W	ENSP00000262861:R1673W	R	-	1	2	SIPA1L2	230604766	1.000000	0.71417	0.298000	0.25002	0.016000	0.09150	3.852000	0.55934	1.495000	0.48549	0.585000	0.79938	CGG		0.393	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1		XM_045839	
SLC5A2	6524	broad.mit.edu	37	16	31496212	31496212	+	Missense_Mutation	SNP	A	A	G	rs374586198		TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr16:31496212A>G	ENST00000330498.3	+	3	290	c.271A>G	c.(271-273)Agt>Ggt	p.S91G	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	91					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)	p.S91G(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	TGGCGCTGCAAGTGGCTTGGC	0.597																																																	1	Substitution - Missense(1)	kidney(1)						A	GLY/SER	1,4393	2.1+/-5.4	0,1,2196	45.0	52.0	49.0		271	5.1	1.0	16		49	0,8600		0,0,4300	no	missense	SLC5A2	NM_003041.3	56	0,1,6496	GG,GA,AA		0.0,0.0228,0.0077	benign	91/673	31496212	1,12993	2197	4300	6497	SO:0001583	missense	6524				CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.271A>G	16.37:g.31496212A>G	ENSP00000327943:p.Ser91Gly	Somatic		WXS	Illumina GAIIx	Phase_I	A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.654673	0.29425	2.28E-4	0.0	ENSG00000140675	ENST00000330498;ENST00000419665	D;D	0.91011	-2.77;-2.77	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.84955	0.5587	L	0.39020	1.185	0.49687	D	0.999812	B	0.10296	0.003	B	0.10450	0.005	T	0.79692	-0.1697	10	0.19590	T	0.45	.	12.9377	0.58325	1.0:0.0:0.0:0.0	.	91	P31639	SC5A2_HUMAN	G	91	ENSP00000327943:S91G;ENSP00000410601:S91G	ENSP00000327943:S91G	S	+	1	0	SLC5A2	31403713	0.000000	0.05858	0.973000	0.42090	0.994000	0.84299	0.456000	0.21859	2.160000	0.67779	0.533000	0.62120	AGT		0.597	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			
SLC6A8	6535	broad.mit.edu	37	X	152954167	152954167	+	Silent	SNP	C	C	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chrX:152954167C>A	ENST00000253122.5	+	1	614	c.138C>A	c.(136-138)cgC>cgA	p.R46R	SLC6A8_ENST00000430077.2_5'Flank	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	46					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)	p.R46R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CCGGCGGCCGCCTGGCCGTGC	0.751																																																	1	Substitution - coding silent(1)	kidney(1)											14.0	12.0	13.0					X																	152954167		2185	4261	6446	SO:0001819	synonymous_variant	6535				CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.138C>A	X.37:g.152954167C>A		Somatic		WXS	Illumina GAIIx	Phase_I	B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Silent	SNP	ENST00000253122.5	37	CCDS14726.1																																																																																				0.751	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1			
SLC7A1	6541	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	30098300	30098300	+	Silent	SNP	G	G	A	rs138795948	byFrequency	TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr13:30098300G>A	ENST00000380752.5	-	6	1181	c.795C>T	c.(793-795)gcC>gcT	p.A265A		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	265					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)	p.A265A(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGCCCACGAAGGCATAGAAGC	0.572													G|||	4	0.000798722	0.0	0.0014	5008	,	,		14470	0.0		0.003	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)						G		6,4400	12.9+/-30.5	0,6,2197	60.0	60.0	60.0		795	2.0	1.0	13	dbSNP_134	60	25,8575	17.9+/-57.8	0,25,4275	no	coding-synonymous	SLC7A1	NM_003045.4		0,31,6472	AA,AG,GG		0.2907,0.1362,0.2384		265/630	30098300	31,12975	2203	4300	6503	SO:0001819	synonymous_variant	6541			AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.795C>T	13.37:g.30098300G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5JR50	Silent	SNP	ENST00000380752.5	37	CCDS9333.1																																																																																				0.572	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2		NM_003045	
SLC7A4	6545	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	21385823	21385823	+	Silent	SNP	C	C	T			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr22:21385823C>T	ENST00000382932.2	-	2	346	c.279G>A	c.(277-279)ggG>ggA	p.G93G	SLC7A4_ENST00000403586.1_Silent_p.G93G|MIR649_ENST00000384843.1_RNA|AC002472.11_ENST00000450652.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	93					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)	p.G93G(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCACACGTGCCCCAAATTCTG	0.617																																																	1	Substitution - coding silent(1)	kidney(1)											64.0	48.0	53.0					22																	21385823		2203	4300	6503	SO:0001819	synonymous_variant	6545			AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"""Solute carriers"""	11062	protein-coding gene	gene with protein product		603752	"""solute carrier family 7 (cationic amino acid transporter, y+ system), member 4"", ""solute carrier family 7 (orphan transporter), member 4"""			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.279G>A	22.37:g.21385823C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Silent	SNP	ENST00000382932.2	37	CCDS33608.1																																																																																				0.617	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1		NM_004173	
SOX7	83595	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	10583337	10583337	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr8:10583337C>A	ENST00000304501.1	-	2	1156	c.1078G>T	c.(1078-1080)Gtg>Ttg	p.V360L	SOX7_ENST00000553390.1_Missense_Mutation_p.V412L|SOX7_ENST00000554914.1_Missense_Mutation_p.V412L	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	360	Sox C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00849}.				endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.V360L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GTTGGTGTCACCTGGGAGACC	0.592																																																	1	Substitution - Missense(1)	kidney(1)											76.0	70.0	72.0					8																	10583337		2203	4300	6503	SO:0001583	missense	83595			AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"""SRY (sex determining region Y)-boxes"""	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.1078G>T	8.37:g.10583337C>A	ENSP00000301921:p.Val360Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B4DKV0|Q53YD0	Missense_Mutation	SNP	ENST00000304501.1	37	CCDS5977.1	.	.	.	.	.	.	.	.	.	.	C	1.764	-0.486007	0.04352	.	.	ENSG00000171056;ENSG00000171056;ENSG00000258724	ENST00000304501;ENST00000553390;ENST00000554914	T;T;T	0.76186	-1.0;-1.0;-1.0	4.53	2.74	0.32292	.	0.770706	0.11610	U	0.546869	T	0.44644	0.1303	N	0.02751	-0.505	0.24250	N	0.995323	P;B	0.35656	0.514;0.004	B;B	0.32090	0.14;0.018	T	0.28170	-1.0052	10	0.11182	T	0.66	.	8.205	0.31449	0.0:0.7324:0.0:0.2676	.	412;360	B4DKV0;Q9BT81	.;SOX7_HUMAN	L	360;412;412	ENSP00000301921:V360L;ENSP00000452017:V412L;ENSP00000451145:V412L	ENSP00000346908:V412L	V	-	1	0	SOX7;CTD-2135J3.4	10620747	0.269000	0.24143	1.000000	0.80357	0.493000	0.33554	0.808000	0.27154	0.527000	0.28560	-0.254000	0.11334	GTG		0.592	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1			
SRSF4	6429	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	29475063	29475063	+	Silent	SNP	G	G	C			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr1:29475063G>C	ENST00000373795.4	-	6	1578	c.1344C>G	c.(1342-1344)tcC>tcG	p.S448S	SRSF4_ENST00000546138.1_3'UTR|RP11-242O24.3_ENST00000413004.1_lincRNA|SRSF4_ENST00000466448.1_5'Flank	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	448	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S448S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						GTTTCGATTTGGAATTGGATC	0.512																																																	1	Substitution - coding silent(1)	kidney(1)											209.0	209.0	209.0					1																	29475063		2203	4300	6503	SO:0001819	synonymous_variant	6429			BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.1344C>G	1.37:g.29475063G>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q5VXP1|Q9BUA4|Q9UEB5	Silent	SNP	ENST00000373795.4	37	CCDS333.1																																																																																				0.512	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1		NM_005626	
THSD7B	80731	hgsc.bcm.edu;ucsc.edu	37	2	137917883	137917884	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	GT	GT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr2:137917883_137917884delGT	ENST00000409968.1	+	6	1648_1649	c.1470_1471delGT	c.(1468-1473)tggtcafs	p.WS490fs	THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000413152.2_Frame_Shift_Del_p.WS459fs|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Frame_Shift_Del_p.WS490fs			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	490	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.S491A(1)|p.S460A(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TATCTTCCTGGTCAGCCTGGGG	0.515																																																	2	Substitution - Missense(2)	lung(2)																																								SO:0001589	frameshift_variant	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1470_1471delGT	2.37:g.137917883_137917884delGT	ENSP00000387145:p.Trp490fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000409968.1	37																																																																																					0.515	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2		XM_046570.9	
TMEM184A	202915	hgsc.bcm.edu	37	7	1586653	1586654	+	In_Frame_Ins	INS	-	-	GCC	rs112463195|rs374586451|rs200315697		TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr7:1586653_1586654insGCC	ENST00000297477.5	-	9	1492_1493	c.1176_1177insGGC	c.(1174-1179)ggctcc>ggcGGCtcc	p.392_393insG	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	392					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CTCCCGCCGGAGCCGCCGCTGG	0.708																																																	0																																										SO:0001652	inframe_insertion	202915				CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1174_1176dupGGC	7.37:g.1586657_1586659dupGCC	ENSP00000297477:p.Gly394_Gly395dup	Somatic		WXS	Illumina HiSeq	Phase_I	Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	CCDS43537.1																																																																																				0.708	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4		NM_152689	
TYRO3	7301	hgsc.bcm.edu	37	15	41865311	41865311	+	Splice_Site	SNP	T	T	C			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr15:41865311T>C	ENST00000263798.3	+	16	2209		c.e16+2		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase						apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GAATTGCATGTACGAATTCTG	0.582																																																	0													53.0	47.0	49.0					15																	41865311		2203	4300	6503	SO:0001630	splice_region_variant	7301			D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.1985+2T>C	15.37:g.41865311T>C		Somatic		WXS	Illumina HiSeq	Phase_I	O14953|Q86VR3	Splice_Site	SNP	ENST00000263798.3	37	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.262227	0.80358	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1249	0.72475	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TYRO3	39652603	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.040000	0.89188	1.998000	0.58463	0.529000	0.55759	.		0.582	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			Intron
VEZT	55591	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	95676229	95676229	+	Silent	SNP	A	A	G			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr12:95676229A>G	ENST00000436874.1	+	8	1242	c.1137A>G	c.(1135-1137)caA>caG	p.Q379Q	VEZT_ENST00000261219.6_Silent_p.Q331Q|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	379					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)		p.Q379Q(2)		endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						ATGTGACTCAAGGTCTACCTC	0.473																																																	2	Substitution - coding silent(2)	kidney(2)											183.0	173.0	176.0					12																	95676229		1979	4178	6157	SO:0001819	synonymous_variant	55591			AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.1137A>G	12.37:g.95676229A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Silent	SNP	ENST00000436874.1	37	CCDS44954.1																																																																																				0.473	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2		NM_017599	
VHL	7428	hgsc.bcm.edu	37	3	10183650	10183650	+	Missense_Mutation	SNP	C	C	T	rs200343185	byFrequency	TCGA-B0-5110-01A-01W-1475-10	TCGA-B0-5110-11A-01W-1475-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0399f90c-5559-4133-bb49-6c173550d76a	5f350c92-67ce-4ba9-91a3-9ea27f65a2e4	g.chr3:10183650C>T	ENST00000256474.2	+	1	959	c.119C>T	c.(118-120)cCg>cTg	p.P40L	VHL_ENST00000345392.2_Missense_Mutation_p.P40L|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	40	8 X 5 AA tandem repeats of G-[PAVG]-E-E- [DAYSLE].				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)			adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GAGTCCGGCCCGGAAGAGTCC	0.736		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				C|||	5	0.000998403	0.0	0.0	5008	,	,		10256	0.001		0.001	False		,,,				2504	0.0031					.	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	0													6.0	9.0	8.0					3																	10183650		2021	3931	5952	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.119C>T	3.37:g.10183650C>T	ENSP00000256474:p.Pro40Leu	Somatic		WXS	Illumina MiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	1	0.0017482517482517483	0	0.0	C	16.34	3.094509	0.56075	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.85171	-1.95;-1.95	3.6	3.6	0.41247	.	0.340736	0.26328	N	0.025001	T	0.67942	0.2947	N	0.19112	0.55	0.09310	N	1	P;P	0.42871	0.792;0.495	B;B	0.28305	0.088;0.027	T	0.67197	-0.5731	10	0.87932	D	0	-1.1666	8.6456	0.34003	0.2279:0.7721:0.0:0.0	.	40;40	P40337-2;P40337	.;VHL_HUMAN	L	40	ENSP00000256474:P40L;ENSP00000344757:P40L	ENSP00000256474:P40L	P	+	2	0	VHL	10158650	0.000000	0.05858	0.009000	0.14445	0.065000	0.16274	-0.034000	0.12225	2.318000	0.78349	0.555000	0.69702	CCG		0.736	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
VHL	7428	hgsc.bcm.edu	37	3	10183794	10183794	+	Missense_Mutation	SNP	G	G	T	rs119103277		TCGA-B0-5110-01A-01W-1475-10	TCGA-B0-5110-11A-01W-1475-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina GAIIx	0399f90c-5559-4133-bb49-6c173550d76a	5f350c92-67ce-4ba9-91a3-9ea27f65a2e4	g.chr3:10183794G>T	ENST00000256474.2	+	1	1103	c.263G>T	c.(262-264)tGg>tTg	p.W88L	VHL_ENST00000345392.2_Missense_Mutation_p.W88L|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	88			W -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.|W -> S (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.W88*(6)|p.W88L(3)|p.W88fs*71(3)|p.V87_W88del(2)|p.W88S(2)|p.R60fs*35(1)|p.V84_E94>E(1)|p.V84fs*69(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CTGCCCGTATGGCTCAACTTC	0.726		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													.	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	19	Substitution - Nonsense(6)|Substitution - Missense(5)|Deletion - Frameshift(5)|Deletion - In frame(2)|Complex - deletion inframe(1)	kidney(17)|endometrium(1)|soft_tissue(1)	GRCh37	CM951277|HX971376	VHL	M|X	rs119103277						13.0	16.0	15.0					3																	10183794		2111	4166	6277	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.263G>T	3.37:g.10183794G>T	ENSP00000256474:p.Trp88Leu	Somatic		WXS	Illumina MiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	32	5.190572	0.94923	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99961	-9.37;-9.37	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99963	0.9985	M	0.84773	2.715	0.41389	D	0.987602	D;D	0.76494	0.996;0.999	D;D	0.78314	0.991;0.975	D	0.94955	0.8103	10	0.59425	D	0.04	-1.5857	16.0203	0.80478	0.0:0.0:1.0:0.0	.	88;88	P40337-2;P40337	.;VHL_HUMAN	L	88	ENSP00000256474:W88L;ENSP00000344757:W88L	ENSP00000256474:W88L	W	+	2	0	VHL	10158794	1.000000	0.71417	0.999000	0.59377	0.877000	0.50540	5.961000	0.70356	2.368000	0.80403	0.479000	0.44913	TGG		0.726	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
ZFPL1	7542	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64854837	64854837	+	Silent	SNP	C	C	A			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr11:64854837C>A	ENST00000294258.3	+	7	830	c.678C>A	c.(676-678)ctC>ctA	p.L226L	AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	226					regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L226L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						CACCAGGCCTCCATGGAGACT	0.597																																																	1	Substitution - coding silent(1)	kidney(1)											95.0	98.0	97.0					11																	64854837		2201	4297	6498	SO:0001819	synonymous_variant	7542				CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"""zinc-finger protein in MEN1 region"""					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.678C>A	11.37:g.64854837C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K7E9|O14616|Q9UID0	Silent	SNP	ENST00000294258.3	37	CCDS8092.1																																																																																				0.597	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385196.1		NM_006782	
ZSCAN5A	79149	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	56732944	56732944	+	Nonstop_Mutation	SNP	T	T	C			TCGA-B0-5110-01A-01D-1421-08	TCGA-B0-5110-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527f7650-6818-4c7c-8e5f-4c9e8d3c0108	2b88b60a-5378-4380-9f83-10825a34e71c	g.chr19:56732944T>C	ENST00000587340.1	-	7	2186	c.1491A>G	c.(1489-1491)tgA>tgG	p.*497W	ZSCAN5A_ENST00000587492.1_Nonstop_Mutation_p.*351W|ZSCAN5A_ENST00000391713.1_Nonstop_Mutation_p.*497W|ZSCAN5A_ENST00000254165.3_Nonstop_Mutation_p.*380W|ZSCAN5A_ENST00000592355.1_Nonstop_Mutation_p.*496W			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	0					regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)	p.*497W(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GATTATGCAATCACTGAGAAG	0.428																																																	1	Nonstop extension(1)	kidney(1)											102.0	87.0	92.0					19																	56732944		2203	4300	6503	SO:0001578	stop_lost	79149			AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.1491A>G	19.37:g.56732944T>C	ENSP00000467631:p.*497Cysext*14	Somatic		WXS	Illumina HiSeq	Phase_I	B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	T	1.469	-0.560366	0.03939	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	.	.	.	1.25	1.25	0.21368	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.6689	0.12680	0.0:0.0:0.0:1.0	.	.	.	.	W	497;380	.	.	X	-	3	0	ZSCAN5A	61424756	0.002000	0.14202	0.011000	0.14972	0.011000	0.07611	0.086000	0.14935	0.820000	0.34516	0.402000	0.26972	TGA		0.428	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1		NM_024303	
