#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_refseq_mrna_id	i_secondary_variant_classification
HPS1	3257	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	10	100177455	100177455	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:100177455G>A	ENST00000325103.6	-	20	2202	c.1969C>T	c.(1969-1971)Cgc>Tgc	p.R657C	HPS1_ENST00000467246.1_5'UTR|PYROXD2_ENST00000370575.4_5'Flank|HPS1_ENST00000361490.4_Missense_Mutation_p.R657C	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	657					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)	p.R657C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		TCGGTTGGGCGGTTCTTGCTG	0.662									Hermansky-Pudlak syndrome																													.											1	Substitution - Missense(1)	prostate(1)											69.0	63.0	65.0					10																	100177455		2203	4300	6503	SO:0001583	missense	3257	Familial Cancer Database	HPS, HPS1-8	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.1969C>T	10.37:g.100177455G>A	ENSP00000326649:p.Arg657Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Missense_Mutation	SNP	ENST00000325103.6	37	CCDS7475.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646100	0.67358	.	.	ENSG00000107521	ENST00000325103;ENST00000361490;ENST00000407891	T;T	0.33438	1.41;1.41	5.5	4.59	0.56863	.	0.252703	0.46442	D	0.000298	T	0.36880	0.0983	L	0.44542	1.39	0.80722	D	1	D;D	0.71674	0.998;0.997	P;P	0.52856	0.599;0.711	T	0.03524	-1.1028	10	0.38643	T	0.18	.	13.7676	0.63004	0.0735:0.0:0.9265:0.0	.	624;658	Q92902-2;D3DR62	.;.	C	657;657;624	ENSP00000326649:R657C;ENSP00000355310:R657C	ENSP00000326649:R657C	R	-	1	0	HPS1	100167445	1.000000	0.71417	0.998000	0.56505	0.533000	0.34776	7.607000	0.82883	2.593000	0.87608	0.456000	0.33151	CGC		0.662	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639	
COX15	1355	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	101483798	101483798	+	Missense_Mutation	SNP	C	C	T	rs377568460		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:101483798C>T	ENST00000016171.5	-	5	715	c.665G>A	c.(664-666)cGc>cAc	p.R222H	CUTC_ENST00000493385.1_Intron|COX15_ENST00000370483.5_Missense_Mutation_p.R222H			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	222					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		GGCAGCAAGGCGGTACTGACT	0.522																																						.											0								C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	131.0	129.0	130.0		665,665	4.6	1.0	10		130	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	COX15	NM_004376.5,NM_078470.4	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	222/389,222/411	101483798	2,13004	2203	4300	6503	SO:0001583	missense	1355			AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"""Mitochondrial respiratory chain complex assembly factors"""	2263	protein-coding gene	gene with protein product		603646	"""COX15 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX15 homolog, cytochrome c oxidase assembly protein (yeast)"""			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.665G>A	10.37:g.101483798C>T	ENSP00000016171:p.Arg222His	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	ENST00000016171.5	37	CCDS7482.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018218	0.93404	0.0	2.33E-4	ENSG00000014919	ENST00000370483;ENST00000016171	D;D	0.84442	-1.85;-1.85	4.61	4.61	0.57282	.	0.052347	0.85682	D	0.000000	D	0.95472	0.8529	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.99;0.995	D	0.97566	1.0101	10	0.87932	D	0	-6.6653	17.8123	0.88619	0.0:1.0:0.0:0.0	.	222;222	Q7KZN9-2;Q7KZN9	.;COX15_HUMAN	H	222	ENSP00000359514:R222H;ENSP00000016171:R222H	ENSP00000016171:R222H	R	-	2	0	COX15	101473788	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.211000	0.77933	2.269000	0.75478	0.462000	0.41574	CGC		0.522	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1	NP_510870	
WDR37	22884	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	10	1175232	1175232	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:1175232G>A	ENST00000358220.1	+	14	1577	c.1433G>A	c.(1432-1434)cGg>cAg	p.R478Q	WDR37_ENST00000263150.4_Missense_Mutation_p.R478Q			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	478										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		GGGTTTGACCGGCAAGCCATT	0.502																																						.											0													122.0	96.0	105.0					10																	1175232		2203	4300	6503	SO:0001583	missense	22884			AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"""WD repeat domain containing"""	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.1433G>A	10.37:g.1175232G>A	ENSP00000350954:p.Arg478Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Missense_Mutation	SNP	ENST00000358220.1	37	CCDS7057.1	.	.	.	.	.	.	.	.	.	.	G	36	5.831306	0.97003	.	.	ENSG00000047056	ENST00000358220;ENST00000263150	T;T	0.01323	5.01;5.01	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.10680	0.0261	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.76575	0.988;0.849	T	0.04481	-1.0948	10	0.33141	T	0.24	.	19.8706	0.96849	0.0:0.0:1.0:0.0	.	479;478	A8K976;Q9Y2I8	.;WDR37_HUMAN	Q	478	ENSP00000350954:R478Q;ENSP00000263150:R478Q	ENSP00000263150:R478Q	R	+	2	0	WDR37	1165232	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.731000	0.98807	2.692000	0.91855	0.561000	0.74099	CGG		0.502	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046418.1	NM_014023	
CALHM1	255022	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	105215188	105215188	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:105215188C>T	ENST00000329905.5	-	2	1008	c.872G>A	c.(871-873)cGt>cAt	p.R291H	RP11-225H22.4_ENST00000411906.1_RNA|CALHM2_ENST00000393235.1_5'Flank	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	291					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						CGTGATGCCACGCAGCTTCTC	0.667																																						.											0													72.0	54.0	60.0					10																	105215188		2203	4300	6503	SO:0001583	missense	255022			BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"""family with sequence similarity 26, member C"""	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.872G>A	10.37:g.105215188C>T	ENSP00000329926:p.Arg291His	Somatic		WXS	Illumina HiSeq	Phase_I	Q5W091	Missense_Mutation	SNP	ENST00000329905.5	37	CCDS7550.1	.	.	.	.	.	.	.	.	.	.	C	7.643	0.681194	0.14907	.	.	ENSG00000185933	ENST00000329905	T	0.18657	2.2	4.8	1.81	0.25067	.	0.301816	0.30752	N	0.008960	T	0.08935	0.0221	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35500	-0.9786	10	0.11182	T	0.66	-6.5134	5.7241	0.18002	0.2155:0.5563:0.0:0.2282	.	291	Q8IU99	CAHM1_HUMAN	H	291	ENSP00000329926:R291H	ENSP00000329926:R291H	R	-	2	0	CALHM1	105205178	0.209000	0.23505	0.671000	0.29857	0.688000	0.40055	1.658000	0.37376	0.543000	0.28864	0.462000	0.41574	CGT		0.667	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	NM_001001412	
BTBD16	118663	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	10	124057337	124057337	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:124057337C>T	ENST00000260723.4	+	8	896	c.645C>T	c.(643-645)taC>taT	p.Y215Y	BTBD16_ENST00000368994.2_Silent_p.Y216Y	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	215										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				AGAAATTCTACGAGGCCGGCT	0.567																																						.											0													61.0	54.0	56.0					10																	124057337		2203	4300	6503	SO:0001819	synonymous_variant	118663			AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"""BTB/POZ domain containing"""	26340	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 87"""	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.645C>T	10.37:g.124057337C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NM63|Q4VXL1|Q96LN0	Silent	SNP	ENST00000260723.4	37	CCDS31301.1																																																																																				0.567	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587	
PLEKHA1	59338	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	124172505	124172505	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:124172505C>T	ENST00000368990.3	+	6	543	c.412C>T	c.(412-414)Caa>Taa	p.Q138*	PLEKHA1_ENST00000368989.2_Nonsense_Mutation_p.Q138*|PLEKHA1_ENST00000368988.1_Nonsense_Mutation_p.Q138*|PLEKHA1_ENST00000433307.1_Nonsense_Mutation_p.Q138*|PLEKHA1_ENST00000494222.1_3'UTR|PLEKHA1_ENST00000538022.1_Nonsense_Mutation_p.Q138*	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	138					androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGGAAAAAGCAAGTGTCTTA	0.383																																						.											0													132.0	119.0	124.0					10																	124172505		2203	4300	6503	SO:0001587	stop_gained	59338			AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"""Pleckstrin homology (PH) domain containing"""	14335	protein-coding gene	gene with protein product	"""tandem PH domain containing protein-1"""	607772	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"""			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.412C>T	10.37:g.124172505C>T	ENSP00000357986:p.Gln138*	Somatic		WXS	Illumina HiSeq	Phase_I	B3KQ55|D3DRE2|Q9BVK0	Nonsense_Mutation	SNP	ENST00000368990.3	37	CCDS7629.1	.	.	.	.	.	.	.	.	.	.	C	38	6.990199	0.97987	.	.	ENSG00000107679	ENST00000368990;ENST00000368989;ENST00000409427;ENST00000368988;ENST00000538022;ENST00000433307	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-19.5925	20.2314	0.98350	0.0:1.0:0.0:0.0	.	.	.	.	X	138	.	ENSP00000357984:Q138X	Q	+	1	0	PLEKHA1	124162495	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.126000	0.77201	2.789000	0.95967	0.591000	0.81541	CAA		0.383	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050783.1	NM_001001974	
DOCK1	1793	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	10	129216676	129216676	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:129216676G>A	ENST00000280333.6	+	45	4609	c.4500G>A	c.(4498-4500)acG>acA	p.T1500T		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1500	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TGCAGCTGACGAACGACAAGA	0.597																																						.											0													62.0	73.0	69.0					10																	129216676		2199	4300	6499	SO:0001819	synonymous_variant	1793			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4500G>A	10.37:g.129216676G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A9Z1Z5	Silent	SNP	ENST00000280333.6	37																																																																																					0.597	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380	
MKI67	4288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	129901498	129901498	+	Missense_Mutation	SNP	G	G	A	rs371728740		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:129901498G>A	ENST00000368654.3	-	13	8981	c.8606C>T	c.(8605-8607)aCg>aTg	p.T2869M	MKI67_ENST00000368653.3_Missense_Mutation_p.T2509M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2869	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTCGGTGTGCGTGGTCTCCCC	0.542																																						.											0													181.0	160.0	167.0					10																	129901498		2203	4300	6503	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8606C>T	10.37:g.129901498G>A	ENSP00000357643:p.Thr2869Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	8.274	0.813950	0.16537	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02121	4.44;4.44	4.16	-2.78	0.05859	.	.	.	.	.	T	0.02610	0.0079	L	0.56769	1.78	0.09310	N	1	B;B;B	0.21905	0.018;0.062;0.012	B;B;B	0.21708	0.005;0.036;0.01	T	0.40646	-0.9552	9	0.39692	T	0.17	.	4.8027	0.13305	0.4516:0.2774:0.271:0.0	.	2868;2509;2869	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	M	2869;2509;2868	ENSP00000357643:T2869M;ENSP00000357642:T2509M	ENSP00000357642:T2509M	T	-	2	0	MKI67	129791488	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.745000	0.00796	-0.609000	0.05724	-0.126000	0.14955	ACG		0.542	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
GDI2	2665	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	5827121	5827121	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:5827121G>A	ENST00000380191.4	-	6	993	c.703C>T	c.(703-705)Ccc>Tcc	p.P235S	GDI2_ENST00000380132.4_Missense_Mutation_p.P239S|GDI2_ENST00000380181.3_Missense_Mutation_p.P190S	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	235					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						AATCCTTGGGGCAGTTCTCCA	0.363																																						.											0													113.0	115.0	114.0					10																	5827121		2203	4300	6503	SO:0001583	missense	2665			D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"""rab GDP-dissociation"""	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.703C>T	10.37:g.5827121G>A	ENSP00000369538:p.Pro235Ser	Somatic		WXS	Illumina HiSeq	Phase_I	O43928|Q5SX88|Q9UQM6	Missense_Mutation	SNP	ENST00000380191.4	37	CCDS7071.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665129	0.88251	.	.	ENSG00000057608	ENST00000380191;ENST00000380153;ENST00000447751;ENST00000380132;ENST00000380181;ENST00000456041	D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.96583	0.8885	M	0.77103	2.36	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.74023	0.95;0.982;0.95	D	0.96498	0.9369	10	0.54805	T	0.06	-15.047	18.6982	0.91610	0.0:0.0:1.0:0.0	.	239;190;235	E7EU23;Q5SX88;P50395	.;.;GDIB_HUMAN	S	235;68;63;239;190;225	ENSP00000369538:P235S;ENSP00000387565:P63S;ENSP00000369475:P239S;ENSP00000369528:P190S;ENSP00000401733:P225S	ENSP00000369475:P239S	P	-	1	0	GDI2	5867127	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.721000	0.98766	2.594000	0.87642	0.655000	0.94253	CCC		0.363	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	NM_001494	
IL2RA	3559	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	10	6063568	6063568	+	Silent	SNP	G	G	A	rs377104035		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:6063568G>A	ENST00000379959.3	-	4	629	c.456C>T	c.(454-456)tgC>tgT	p.C152C	IL2RA_ENST00000379954.1_Intron|IL2RA_ENST00000256876.6_Silent_p.C152C	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	152	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	ATCCCTGGACGCACTGATAAT	0.527																																						.											0								G		0,4406		0,0,2203	178.0	157.0	164.0		456	-0.8	0.1	10		164	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IL2RA	NM_000417.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		152/273	6063568	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3559			X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"""Interleukins and interleukin receptors"", ""CD molecules"""	6008	protein-coding gene	gene with protein product		147730	"""insulin-dependent diabetes mellitus 10"""	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.456C>T	10.37:g.6063568G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5W007	Silent	SNP	ENST00000379959.3	37	CCDS7076.1																																																																																				0.527	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046627.1	NM_000417	
RASSF4	83937	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	10	45485141	45485141	+	Silent	SNP	C	C	T	rs192302639		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:45485141C>T	ENST00000340258.5	+	8	770	c.657C>T	c.(655-657)ttC>ttT	p.F219F	RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000334940.6_Silent_p.F228F|RASSF4_ENST00000374417.2_3'UTR	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	834					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CCAGTGAGTTCGCACTCTACA	0.557													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19556	0.0		0.0	False		,,,				2504	0.0					.											0													142.0	111.0	122.0					10																	45485141		2203	4300	6503	SO:0001819	synonymous_variant	83937			BC032593	CCDS7208.1	10q11.1	2008-02-22	2008-02-22		ENSG00000107551	ENSG00000107551			20793	protein-coding gene	gene with protein product		610559					Standard	NM_032023		Approved	AD037, MGC44914	uc001jbo.3	Q9H2L5	OTTHUMG00000018060	ENST00000340258.5:c.657C>T	10.37:g.45485141C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	ENST00000340258.5	37	CCDS7208.1																																																																																				0.557	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047745.2	NM_032023	
C10orf71	118461	hgsc.bcm.edu;mdanderson.org	37	10	50534403	50534403	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:50534403C>T	ENST00000374144.3	+	3	4101	c.3813C>T	c.(3811-3813)ccC>ccT	p.P1271P	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	1271										endometrium(1)	1						CCGCGTACCCCGCCACCCAGA	0.667																																						.											0													3.0	6.0	5.0					10																	50534403		625	1488	2113	SO:0001819	synonymous_variant	118461			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.3813C>T	10.37:g.50534403C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A0AVL8	Silent	SNP	ENST00000374144.3	37	CCDS44387.1																																																																																				0.667	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459	
DDX50	79009	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	10	70695777	70695777	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:70695777C>T	ENST00000373585.3	+	11	1644	c.1537C>T	c.(1537-1539)Cgt>Tgt	p.R513C	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	513	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TACTTTTAAACGTGTAGGTGT	0.279																																						.											0													63.0	61.0	62.0					10																	70695777		2202	4298	6500	SO:0001583	missense	79009			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1537C>T	10.37:g.70695777C>T	ENSP00000362687:p.Arg513Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531750	0.64972	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.21543	2.0	5.46	5.46	0.80206	Helicase, C-terminal (1);	0.046278	0.85682	D	0.000000	T	0.29223	0.0727	M	0.77406	2.37	0.80722	D	1	B	0.33238	0.403	B	0.26202	0.067	T	0.13361	-1.0512	10	0.66056	D	0.02	-8.0118	18.6472	0.91415	0.0:1.0:0.0:0.0	.	513	Q9BQ39	DDX50_HUMAN	C	513	ENSP00000362687:R513C	ENSP00000362687:R513C	R	+	1	0	DDX50	70365783	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.308000	0.51896	2.725000	0.93324	0.591000	0.81541	CGT		0.279	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045	
PALD1	27143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	72324139	72324139	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:72324139C>T	ENST00000263563.6	+	19	2550	c.2282C>T	c.(2281-2283)gCg>gTg	p.A761V		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	761						cytosol (GO:0005829)											GCGAAAGAGGCGCAAGAAATG	0.617																																						.											0													77.0	75.0	76.0					10																	72324139		2203	4300	6503	SO:0001583	missense	27143			AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.2282C>T	10.37:g.72324139C>T	ENSP00000263563:p.Ala761Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	ENST00000263563.6	37	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	c	10.63	1.404595	0.25378	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.29917	1.55	4.9	2.42	0.29668	.	0.426837	0.24803	N	0.035474	T	0.24547	0.0595	L	0.47716	1.5	0.26423	N	0.976068	B	0.18610	0.029	B	0.12156	0.007	T	0.16158	-1.0412	10	0.40728	T	0.16	-12.6907	8.4465	0.32845	0.3575:0.52:0.0:0.1225	.	761	Q9ULE6	PALD_HUMAN	V	761;737	ENSP00000263563:A761V	ENSP00000263563:A761V	A	+	2	0	KIAA1274	71994145	1.000000	0.71417	0.147000	0.22382	0.613000	0.37349	1.533000	0.36040	0.168000	0.19655	-0.410000	0.06199	GCG		0.617	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431	
CHST3	9469	hgsc.bcm.edu;mdanderson.org	37	10	73768163	73768163	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:73768163C>T	ENST00000373115.4	+	3	1811	c.1374C>T	c.(1372-1374)gaC>gaT	p.D458D		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	458					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						TGGCGCGGGACGCCGCCGCCC	0.692																																						.											0													13.0	12.0	12.0					10																	73768163		2164	4246	6410	SO:0001819	synonymous_variant	9469			AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"""Sulfotransferases, membrane-bound"""	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.1374C>T	10.37:g.73768163C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O75099|Q52M30	Silent	SNP	ENST00000373115.4	37	CCDS7312.1																																																																																				0.692	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	NM_004273	
TSPAN14	81619	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	82269147	82269147	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:82269147C>T	ENST00000429989.3	+	5	593	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	TSPAN14_ENST00000372164.3_Missense_Mutation_p.R107W|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372158.1_Missense_Mutation_p.R124W|TSPAN14_ENST00000372156.1_Missense_Mutation_p.R124W|TSPAN14_ENST00000341863.6_Intron	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	124					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			GGACCGGTTCCGGGAGTTCTT	0.582																																						.											0													111.0	95.0	100.0					10																	82269147		2203	4300	6503	SO:0001583	missense	81619			AF311903	CCDS7369.1, CCDS44448.1	10q23.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000108219	ENSG00000108219		"""Tetraspanins"""	23303	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 14"""	TM4SF14		11230166	Standard	NM_030927		Approved	DC-TM4F2, MGC11352	uc001kcj.4	Q8NG11	OTTHUMG00000018615	ENST00000429989.3:c.370C>T	10.37:g.82269147C>T	ENSP00000396270:p.Arg124Trp	Somatic		WXS	Illumina HiSeq	Phase_I	A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	Missense_Mutation	SNP	ENST00000429989.3	37	CCDS7369.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.256647	0.59321	.	.	ENSG00000108219	ENST00000429989;ENST00000372157;ENST00000372164;ENST00000372158;ENST00000372156	D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3	5.21	4.23	0.50019	Tetraspanin, EC2 domain (1);	0.293169	0.37437	N	0.002084	T	0.82033	0.4949	L	0.47716	1.5	0.44048	D	0.996787	B;B	0.09022	0.001;0.002	B;B	0.15870	0.014;0.005	T	0.79845	-0.1631	10	0.72032	D	0.01	-34.6436	9.7385	0.40404	0.3472:0.6528:0.0:0.0	.	124;107	Q8NG11;Q8NG11-2	TSN14_HUMAN;.	W	124;94;107;124;124	ENSP00000396270:R124W;ENSP00000361230:R94W;ENSP00000361237:R107W;ENSP00000361231:R124W;ENSP00000361229:R124W	ENSP00000361229:R124W	R	+	1	2	TSPAN14	82259127	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.438000	0.59961	2.435000	0.82474	0.655000	0.94253	CGG		0.582	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049081.2	NM_030927	
PANK1	53354	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	10	91371798	91371798	+	Silent	SNP	T	T	C	rs376656328		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:91371798T>C	ENST00000307534.4	-	2	866	c.711A>G	c.(709-711)ccA>ccG	p.P237P	PANK1_ENST00000371774.2_Silent_p.P39P|PANK1_ENST00000322191.6_Silent_p.P12P|PANK1_ENST00000342512.3_Silent_p.P12P	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	237					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						TGCCAAACCATGGGAATGCTA	0.433																																						.											0								T	,,	0,4406		0,0,2203	64.0	60.0	61.0		36,711,36	-12.2	0.1	10		61	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	PANK1	NM_138316.3,NM_148977.2,NM_148978.2	,,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,,	12/315,237/599,12/374	91371798	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	53354			AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"""pantothenate kinase"""	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.711A>G	10.37:g.91371798T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Silent	SNP	ENST00000307534.4	37	CCDS31244.1																																																																																				0.433	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
MYOF	26509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	10	95168570	95168570	+	Silent	SNP	T	T	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:95168570T>G	ENST00000359263.4	-	7	702	c.703A>C	c.(703-705)Aga>Cga	p.R235R	MYOF_ENST00000371502.4_Silent_p.R235R|MYOF_ENST00000358334.5_Silent_p.R235R|MYOF_ENST00000371501.4_Silent_p.R235R|MYOF_ENST00000371489.1_Silent_p.R235R	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	235	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Necessary for interaction with EHD2.				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)			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						TTGTTTCCTCTCTTGATTCTT	0.517																																						.											0													129.0	121.0	124.0					10																	95168570		1940	4141	6081	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.703A>C	10.37:g.95168570T>G		Somatic		WXS	Illumina HiSeq	Phase_I	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	ENST00000359263.4	37	CCDS41551.1																																																																																				0.517	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451	
KNDC1	85442	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	10	134996849	134996849	+	Splice_Site	SNP	C	C	T	rs201644896		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:134996849C>T	ENST00000304613.3	+	4	383	c.362C>T	c.(361-363)gCg>gTg	p.A121V	KNDC1_ENST00000368572.2_Splice_Site_p.A121V|KNDC1_ENST00000368571.2_Splice_Site_p.A56V			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	121	KIND 1. {ECO:0000255|PROSITE- ProRule:PRU00709}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TGCCCACAGGCGCACATCTAC	0.657																																						.											0									VAL/ALA	1,4391		0,1,2195	17.0	16.0	17.0		362	2.5	0.6	10		17	0,8580		0,0,4290	yes	missense-near-splice	KNDC1	NM_152643.6	64	0,1,6485	TT,TC,CC		0.0,0.0228,0.0077	possibly-damaging	121/1750	134996849	1,12971	2196	4290	6486	SO:0001630	splice_region_variant	85442			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.361-1C>T	10.37:g.134996849C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804390	0.50315	2.28E-4	0.0	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.30182	1.54;1.54;1.84	4.49	2.45	0.29901	KIND (2);	0.088104	0.46145	D	0.000304	T	0.24967	0.0606	M	0.67953	2.075	0.30336	N	0.786205	P;B	0.44195	0.828;0.213	B;B	0.35353	0.201;0.015	T	0.35773	-0.9775	10	0.87932	D	0	-13.4062	5.8947	0.18933	0.0:0.6975:0.1944:0.1081	.	56;121	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	V	121;121;56	ENSP00000304437:A121V;ENSP00000357561:A121V;ENSP00000357560:A56V	ENSP00000304437:A121V	A	+	2	0	KNDC1	134846839	0.657000	0.27393	0.616000	0.29078	0.224000	0.24922	1.027000	0.30115	1.032000	0.39892	0.450000	0.29827	GCG		0.657	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643	Missense_Mutation
CORT	1325	hgsc.bcm.edu;ucsc.edu	37	1	10510334	10510334	+	Silent	SNP	C	C	T	rs182159138	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:10510334C>T	ENST00000377049.3	+	1	559	c.54C>T	c.(52-54)acC>acT	p.T18T	CORT_ENST00000320498.4_Silent_p.T68T|APITD1-CORT_ENST00000400900.2_Intron|APITD1-CORT_ENST00000465026.1_Intron|APITD1_ENST00000602787.1_Intron|APITD1_ENST00000602296.1_Intron|APITD1-CORT_ENST00000470413.2_Intron	NM_001302.4	NP_001293.3	O00230	CORT_HUMAN	cortistatin	18					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)	G-protein coupled receptor binding (GO:0001664)|neuropeptide hormone activity (GO:0005184)			breast(1)|endometrium(1)|stomach(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)		CCACGGCCACCGCTGCCCTGC	0.677													C|||	2	0.000399361	0.0	0.0029	5008	,	,		15737	0.0		0.0	False		,,,				2504	0.0					.											0								C	,,	0,4404		0,0,2202	25.0	26.0	26.0		54,,	-7.2	0.0	1		26	3,8593		0,3,4295	no	coding-synonymous,intron,intron	CORT,APITD1-CORT	NM_001302.4,NM_198544.3,NM_199006.2	,,	0,3,6497	TT,TC,CC		0.0349,0.0,0.0231	,,	18/106,,	10510334	3,12997	2202	4298	6500	SO:0001819	synonymous_variant	1325			AF013252	CCDS117.1, CCDS117.2	1p36.22	2013-02-25			ENSG00000241563	ENSG00000241563		"""Endogenous ligands"""	2257	protein-coding gene	gene with protein product	"""prepro-cortistatin"""	602784				9205124	Standard	NM_001302		Approved	MGC32686		O00230	OTTHUMG00000001906	ENST00000377049.3:c.54C>T	1.37:g.10510334C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5T6G0|Q6UX11	Silent	SNP	ENST00000377049.3	37	CCDS117.2																																																																																				0.677	CORT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005410.3	NM_001302	
CASZ1	54897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	10713846	10713846	+	Silent	SNP	G	G	A	rs372443290		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:10713846G>A	ENST00000377022.3	-	11	2585	c.2268C>T	c.(2266-2268)gcC>gcT	p.A756A	CASZ1_ENST00000344008.5_Silent_p.A756A|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	756					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCTCGGTGGCGGCAGTGGCGG	0.682																																						.											0													32.0	42.0	39.0					1																	10713846		2203	4298	6501	SO:0001819	synonymous_variant	54897			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.2268C>T	1.37:g.10713846G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	ENST00000377022.3	37	CCDS41246.1																																																																																				0.682	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766	
VCAM1	7412	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	101186203	101186203	+	Missense_Mutation	SNP	C	C	T	rs142501320		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:101186203C>T	ENST00000294728.2	+	2	337	c.236C>T	c.(235-237)aCg>aTg	p.T79M	VCAM1_ENST00000370119.4_Intron|VCAM1_ENST00000370115.1_Missense_Mutation_p.T79M|VCAM1_ENST00000347652.2_Missense_Mutation_p.T79M	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	79	Ig-like C2-type 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ACCACATCTACGCTGACAATG	0.468																																						.											0								C	MET/THR,,MET/THR	0,4406		0,0,2203	108.0	92.0	98.0		236,,236	0.8	0.1	1	dbSNP_134	98	1,8599		0,1,4299	no	missense,intron,missense	VCAM1	NM_001078.3,NM_001199834.1,NM_080682.2	81,,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,,possibly-damaging	79/740,,79/648	101186203	1,13005	2203	4300	6503	SO:0001583	missense	7412			M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.236C>T	1.37:g.101186203C>T	ENSP00000294728:p.Thr79Met	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	CCDS773.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.703656	0.30232	0.0	1.16E-4	ENSG00000162692	ENST00000347652;ENST00000294728;ENST00000370115	T;T;T	0.70986	-0.53;-0.53;-0.53	5.82	0.799	0.18667	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.500140	0.25035	N	0.033655	T	0.65015	0.2651	M	0.87038	2.855	0.19945	N	0.999943	P;P	0.51653	0.915;0.947	B;P	0.49561	0.118;0.615	T	0.61681	-0.7013	9	.	.	.	-0.3281	8.3979	0.32568	0.0:0.6113:0.0:0.3887	.	79;79	P19320-2;P19320	.;VCAM1_HUMAN	M	79	ENSP00000304611:T79M;ENSP00000294728:T79M;ENSP00000359133:T79M	.	T	+	2	0	VCAM1	100958791	0.000000	0.05858	0.093000	0.20910	0.435000	0.31806	-0.230000	0.09083	0.097000	0.17492	-0.136000	0.14681	ACG		0.468	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078	
KIAA1324	57535	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	109735386	109735386	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:109735386C>T	ENST00000369939.3	+	14	2020	c.1837C>T	c.(1837-1839)Cga>Tga	p.R613*	KIAA1324_ENST00000529753.1_Nonsense_Mutation_p.R526*|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	613					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)	p.R613*(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CTATATTGACCGAGATTCAGG	0.557																																						.											1	Substitution - Nonsense(1)	breast(1)											171.0	161.0	164.0					1																	109735386		2203	4300	6503	SO:0001587	stop_gained	57535			AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.1837C>T	1.37:g.109735386C>T	ENSP00000358955:p.Arg613*	Somatic		WXS	Illumina HiSeq	Phase_I	Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Nonsense_Mutation	SNP	ENST00000369939.3	37	CCDS794.1	.	.	.	.	.	.	.	.	.	.	C	36	5.811795	0.96975	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	.	.	.	4.81	3.87	0.44632	.	0.296646	0.33732	N	0.004604	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	0.3541	10.9302	0.47213	0.4598:0.5402:0.0:0.0	.	.	.	.	X	613;563;526	.	ENSP00000358955:R613X	R	+	1	2	KIAA1324	109536909	0.001000	0.12720	0.993000	0.49108	0.969000	0.65631	0.746000	0.26275	1.343000	0.45638	0.650000	0.86243	CGA		0.557	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775	
DYNC2H1	79659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	102987417	102987417	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:102987417G>A	ENST00000375735.2	+	5	884	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R247Q|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.R247Q	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	247	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCTGAGTCACGAATGTTGCAT	0.348																																						.											0													202.0	193.0	196.0					11																	102987417		1880	4111	5991	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.740G>A	11.37:g.102987417G>A	ENSP00000364887:p.Arg247Gln	Somatic		WXS	Illumina HiSeq	Phase_I	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	35	5.476600	0.96291	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.70399	-0.48;-0.48;-0.48	5.49	5.49	0.81192	Dynein heavy chain, domain-1 (1);	0.636430	0.11876	U	0.521016	D	0.86125	0.5858	M	0.77820	2.39	0.80722	D	1	D;D;D	0.89917	1.0;0.98;0.997	D;P;P	0.83275	0.996;0.832;0.868	D	0.85384	0.1121	10	0.87932	D	0	.	19.3705	0.94481	0.0:0.0:1.0:0.0	.	247;247;247	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	Q	247	ENSP00000364887:R247Q;ENSP00000334021:R247Q;ENSP00000381167:R247Q	ENSP00000334021:R247Q	R	+	2	0	DYNC2H1	102492627	1.000000	0.71417	0.965000	0.40720	0.941000	0.58515	9.476000	0.97823	2.567000	0.86603	0.650000	0.86243	CGA		0.348	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
ATM	472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	108201014	108201014	+	Missense_Mutation	SNP	C	C	T	rs201314561		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:108201014C>T	ENST00000452508.2	+	51	7570	c.7381C>T	c.(7381-7383)Cgc>Tgc	p.R2461C	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.R2461C			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2461	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GGATCGTAAACGCTTCTTATG	0.388			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		20856	0.0		0.0	False		,,,				2504	0.0					.	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0								C	CYS/ARG	3,4399	6.2+/-15.9	0,3,2198	127.0	130.0	129.0		7381	4.7	1.0	11		129	0,8596		0,0,4298	no	missense	ATM	NM_000051.3	180	0,3,6496	TT,TC,CC		0.0,0.0682,0.0231	probably-damaging	2461/3057	108201014	3,12995	2201	4298	6499	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7381C>T	11.37:g.108201014C>T	ENSP00000388058:p.Arg2461Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701750	0.88924	6.82E-4	0.0	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.83591	-1.74;-1.74	4.7	4.7	0.59300	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90150	0.6922	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.91062	0.4886	10	0.59425	D	0.04	.	16.9756	0.86312	0.0:1.0:0.0:0.0	.	2461	Q13315	ATM_HUMAN	C	2461	ENSP00000278616:R2461C;ENSP00000388058:R2461C	ENSP00000278616:R2461C	R	+	1	0	ATM	107706224	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	4.480000	0.60243	2.293000	0.77203	0.561000	0.74099	CGC		0.388	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
PIH1D2	120379	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	11	111938616	111938616	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:111938616G>A	ENST00000280350.4	-	6	1149	c.927C>T	c.(925-927)atC>atT	p.I309I	PIH1D2_ENST00000532211.1_Silent_p.I309I|PIH1D2_ENST00000431456.1_Intron|PIH1D2_ENST00000528775.1_Intron	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	309										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		GCATTGTGATGATTAGCGTGG	0.343																																						.											0													174.0	164.0	167.0					11																	111938616		2201	4296	6497	SO:0001819	synonymous_variant	120379			BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.927C>T	11.37:g.111938616G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DU48|E9PD82	Silent	SNP	ENST00000280350.4	37	CCDS8355.1																																																																																				0.343	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391916.1	NM_138789	
TTC12	54970	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	11	113187003	113187003	+	Missense_Mutation	SNP	T	T	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:113187003T>A	ENST00000529221.1	+	2	129	c.24T>A	c.(22-24)gaT>gaA	p.D8E	RP11-839D17.3_ENST00000533504.1_RNA|TTC12_ENST00000314756.3_Missense_Mutation_p.D8E|RP11-839D17.3_ENST00000526487.1_RNA|TTC12_ENST00000483239.2_Missense_Mutation_p.D8E|TTC12_ENST00000393020.1_Missense_Mutation_p.D8E	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	8										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AAGAGAAAGATTTGCAGAAAT	0.333																																						.											0													44.0	48.0	47.0					11																	113187003		2201	4295	6496	SO:0001583	missense	54970			AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.24T>A	11.37:g.113187003T>A	ENSP00000433757:p.Asp8Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	CCDS8360.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.16|13.16	2.154401|2.154401	0.38021|0.38021	.|.	.|.	ENSG00000149292|ENSG00000149292	ENST00000529221;ENST00000429951;ENST00000442859;ENST00000529850;ENST00000314756;ENST00000525965;ENST00000393020;ENST00000455306;ENST00000483239|ENST00000524580	T;T;T;T;T;T;T;T;T|.	0.56275|.	2.56;0.47;1.65;1.05;2.51;1.03;2.49;1.65;2.57|.	4.87|4.87	-0.324|-0.324	0.12706|0.12706	.|.	0.911967|.	0.09570|.	N|.	0.784259|.	T|T	0.50990|0.50990	0.1648|0.1648	M|M	0.64997|0.64997	1.995|1.995	0.29800|0.29800	N|N	0.832486|0.832486	P;P|.	0.46706|.	0.883;0.883|.	B;B|.	0.43301|.	0.415;0.415|.	T|T	0.55075|0.55075	-0.8197|-0.8197	10|6	0.34782|0.87932	T|D	0.22|0	-26.8681|-26.8681	8.7028|8.7028	0.34336|0.34336	0.0:0.4798:0.0:0.5202|0.0:0.4798:0.0:0.5202	.|.	8;8|.	A8K8G6;Q9H892|.	.;TTC12_HUMAN|.	E|N	8|7	ENSP00000433757:D8E;ENSP00000413335:D8E;ENSP00000400039:D8E;ENSP00000431806:D8E;ENSP00000315160:D8E;ENSP00000435308:D8E;ENSP00000376743:D8E;ENSP00000402004:D8E;ENSP00000419652:D8E|.	ENSP00000315160:D8E|ENSP00000436677:I7N	D|I	+|+	3|2	2|0	TTC12|TTC12	112692213|112692213	0.987000|0.987000	0.35691|0.35691	0.990000|0.990000	0.47175|0.47175	0.748000|0.748000	0.42578|0.42578	-0.111000|-0.111000	0.10807|0.10807	-0.230000|-0.230000	0.09840|0.09840	0.460000|0.460000	0.39030|0.39030	GAT|ATT		0.333	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868	
MUC5B	727897	hgsc.bcm.edu	37	11	1253980	1253980	+	Missense_Mutation	SNP	A	A	G	rs202127660		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:1253980A>G	ENST00000529681.1	+	17	2103	c.2045A>G	c.(2044-2046)gAc>gGc	p.D682G	MUC5B_ENST00000447027.1_Missense_Mutation_p.D685G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	682					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCTCAGCGACTGGAGGGAC	0.682																																						.											0													21.0	24.0	23.0					11																	1253980		2116	4228	6344	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2045A>G	11.37:g.1253980A>G	ENSP00000436812:p.Asp682Gly	Somatic		WXS	Illumina HiSeq	Phase_I	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	7.541	0.660740	0.14645	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.76060	-0.99;-0.99	4.6	2.72	0.32119	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.50103	0.1596	N	0.02960	-0.455	0.24874	N	0.992269	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45920	-0.9228	9	0.87932	D	0	.	8.6635	0.34108	0.2416:0.0:0.7584:0.0	.	682;1341;685	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	G	682;685;683;718	ENSP00000436812:D682G;ENSP00000415793:D685G	ENSP00000343037:D683G	D	+	2	0	MUC5B	1210556	0.999000	0.42202	0.632000	0.29296	0.070000	0.16714	2.607000	0.46300	0.373000	0.24621	-1.983000	0.00453	GAC		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
MFRP	83552	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	11	119212383	119212383	+	Missense_Mutation	SNP	G	G	A	rs374823079		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:119212383G>A	ENST00000530681.1	-	13	1759	c.1615C>T	c.(1615-1617)Cgc>Tgc	p.R539C	C1QTNF5_ENST00000528368.1_5'Flank|C1QTNF5_ENST00000525657.1_5'Flank|MFRP_ENST00000449574.2_Missense_Mutation_p.R539C|MFRP_ENST00000555262.1_Missense_Mutation_p.R539C|MFRP_ENST00000360167.4_Missense_Mutation_p.R421C|C1QTNF5_ENST00000445041.2_5'UTR	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	539	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CAGACAGAGCGGCAAGGGGGC	0.647																																						.											0								G	CYS/ARG,	0,4398		0,0,2199	31.0	37.0	35.0		1615,	4.0	1.0	11		35	1,8589	1.2+/-3.3	0,1,4294	no	missense,utr-5	MFRP,C1QTNF5	NM_031433.2,NM_015645.3	180,	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,	539/580,	119212383	1,12987	2199	4295	6494	SO:0001583	missense	83552			AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.1615C>T	11.37:g.119212383G>A	ENSP00000456533:p.Arg539Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	ENST00000530681.1	37	CCDS8421.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106910	0.77096	0.0	1.16E-4	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	T;T;T	0.61510	0.1;0.1;0.1	4.89	3.95	0.45737	Frizzled domain (4);	0.000000	0.85682	D	0.000000	T	0.80644	0.4662	M	0.93150	3.385	0.58432	D	0.999998	D;D	0.89917	0.997;1.0	P;D	0.85130	0.887;0.997	D	0.84126	0.0409	10	0.54805	T	0.06	-22.1657	12.8114	0.57641	0.0:0.0:0.7042:0.2958	.	421;539	B4DHN8;Q9BY79	.;MFRP_HUMAN	C	539;539;421	ENSP00000450509:R539C;ENSP00000391664:R539C;ENSP00000353291:R421C	ENSP00000353291:R421C	R	-	1	0	MFRP	118717593	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.980000	0.63812	1.000000	0.39049	0.561000	0.74099	CGC		0.647	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	NM_031433	
SRPR	6734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	126135007	126135007	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:126135007G>A	ENST00000332118.6	-	11	1526	c.1372C>T	c.(1372-1374)Cgt>Tgt	p.R458C	SRPR_ENST00000530680.1_5'Flank|SRPR_ENST00000532259.1_Missense_Mutation_p.R430C	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	458					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		GCCCCAGCACGAAATGTATCA	0.517																																						.											0													57.0	54.0	55.0					11																	126135007		2201	4299	6500	SO:0001583	missense	6734			BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.1372C>T	11.37:g.126135007G>A	ENSP00000328023:p.Arg458Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	G	33	5.231973	0.95207	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	5.26	5.26	0.73747	ATPase, AAA+ type, core (1);Signal recognition particle, SRP54 subunit, GTPase (2);	0.000000	0.85682	D	0.000000	D	0.91771	0.7397	H	0.99415	4.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95098	0.8228	9	0.87932	D	0	-8.6525	19.0619	0.93096	0.0:0.0:1.0:0.0	.	430;458	E9PJS4;P08240	.;SRPR_HUMAN	C	458;430	.	ENSP00000328023:R458C	R	-	1	0	SRPR	125640217	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.345000	0.97053	2.744000	0.94065	0.650000	0.86243	CGT		0.517	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139	
ANO9	338440	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	11	428582	428582	+	Missense_Mutation	SNP	C	C	T	rs199542627		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:428582C>T	ENST00000332826.6	-	13	1162	c.1078G>A	c.(1078-1080)Gcg>Acg	p.A360T		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	360					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CTGAAGAGCGCGGAGGCCAGG	0.667																																						.											0									THR/ALA	0,4388		0,0,2194	32.0	35.0	34.0		1078	2.2	0.0	11		34	2,8568	2.2+/-6.3	0,2,4283	yes	missense	ANO9	NM_001012302.2	58	0,2,6477	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	360/783	428582	2,12956	2194	4285	6479	SO:0001583	missense	338440			U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1078G>A	11.37:g.428582C>T	ENSP00000332788:p.Ala360Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	C	9.850	1.193288	0.22037	0.0	2.33E-4	ENSG00000185101	ENST00000332826	T	0.63744	-0.06	4.17	2.21	0.28008	.	1.993630	0.02753	U	0.117660	T	0.66277	0.2773	L	0.48877	1.53	0.09310	N	1	D;D	0.64830	0.981;0.994	P;P	0.53954	0.481;0.738	T	0.52646	-0.8548	10	0.17369	T	0.5	.	8.8995	0.35485	0.0:0.764:0.1515:0.0845	.	61;360	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	T	360	ENSP00000332788:A360T	ENSP00000332788:A360T	A	-	1	0	ANO9	418582	0.013000	0.17824	0.002000	0.10522	0.001000	0.01503	1.289000	0.33307	0.879000	0.35944	-0.532000	0.04303	GCG		0.667	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302	
SPTY2D1	144108	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	18636542	18636542	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:18636542G>A	ENST00000336349.5	-	3	1514	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	427	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CTGACTGTCCGCCTAGAGGGA	0.582																																						.											0													94.0	89.0	91.0					11																	18636542		2199	4293	6492	SO:0001583	missense	144108			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1279C>T	11.37:g.18636542G>A	ENSP00000337991:p.Arg427Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	ENST00000336349.5	37	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551665	0.27739	.	.	ENSG00000179119	ENST00000336349	T	0.32272	1.46	5.95	3.06	0.35304	.	0.651159	0.15755	N	0.246242	T	0.31451	0.0797	M	0.76328	2.33	0.09310	N	1	B	0.19817	0.039	B	0.08055	0.003	T	0.31668	-0.9935	10	0.66056	D	0.02	-0.1893	6.651	0.22961	0.1285:0.0:0.5147:0.3568	.	427	Q68D10	SPT2_HUMAN	W	427	ENSP00000337991:R427W	ENSP00000337991:R427W	R	-	1	2	SPTY2D1	18593118	0.011000	0.17503	0.043000	0.18650	0.749000	0.42624	1.693000	0.37742	0.402000	0.25451	0.563000	0.77884	CGG		0.582	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285	
ZDHHC13	54503	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	11	19170818	19170818	+	Silent	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:19170818C>A	ENST00000446113.2	+	5	580	c.459C>A	c.(457-459)atC>atA	p.I153I	ZDHHC13_ENST00000399351.3_Silent_p.I23I|ZDHHC13_ENST00000532812.1_3'UTR	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	153					metabolic process (GO:0008152)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						TCAGCAGCATCCACCTGGCAG	0.403																																						.											0													93.0	82.0	85.0					11																	19170818		1910	4113	6023	SO:0001819	synonymous_variant	54503			AB024495	CCDS44550.1, CCDS44551.1	11p15.1	2013-01-10			ENSG00000177054	ENSG00000177054		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18413	protein-coding gene	gene with protein product		612815				18794299	Standard	NM_001001483		Approved	FLJ10852, FLJ10941, HIP14L	uc001mpi.3	Q8IUH4	OTTHUMG00000166099	ENST00000446113.2:c.459C>A	11.37:g.19170818C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Silent	SNP	ENST00000446113.2	37	CCDS44550.1																																																																																				0.403	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387821.1	NM_019028	
ABTB2	25841	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	11	34192538	34192538	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:34192538C>T	ENST00000435224.2	-	5	1902	c.1478G>A	c.(1477-1479)cGc>cAc	p.R493H	ABTB2_ENST00000298992.2_Missense_Mutation_p.R307H|ABTB2_ENST00000530814.1_5'Flank	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	493					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GTTGAGCATGCGGAAACCCAG	0.562																																						.											0													109.0	87.0	95.0					11																	34192538		2202	4298	6500	SO:0001583	missense	25841			AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.1478G>A	11.37:g.34192538C>T	ENSP00000410157:p.Arg493His	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	C	34	5.350737	0.95830	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.62105	0.06;0.05	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.74974	0.3787	L	0.45698	1.435	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.77341	-0.2624	10	0.66056	D	0.02	.	18.3507	0.90337	0.0:1.0:0.0:0.0	.	307	Q8N961	ABTB2_HUMAN	H	493;307	ENSP00000410157:R493H;ENSP00000298992:R307H	ENSP00000298992:R307H	R	-	2	0	ABTB2	34149114	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.329000	0.79093	0.491000	0.48974	CGC		0.562	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804	
KCNJ1	3758	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	128709264	128709264	+	Missense_Mutation	SNP	C	C	T	rs373198476		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:128709264C>T	ENST00000392664.2	-	2	1048	c.932G>A	c.(931-933)cGg>cAg	p.R311Q	KCNJ1_ENST00000392665.2_Missense_Mutation_p.R292Q|KCNJ1_ENST00000324036.3_Missense_Mutation_p.R292Q|KCNJ1_ENST00000392666.1_Missense_Mutation_p.R292Q|KCNJ1_ENST00000440599.2_Missense_Mutation_p.R292Q	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	311					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	ATAGGATGTCCGGACTTGGCA	0.498													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20427	0.0		0.0	False		,,,				2504	0.0					.											0			GRCh37	CM994546	KCNJ1	M		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4402		0,0,2201	73.0	69.0	70.0		932,875,875,875,875	5.6	1.0	11		70	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense,missense,missense,missense	KCNJ1	NM_000220.2,NM_153764.1,NM_153765.1,NM_153766.1,NM_153767.2	43,43,43,43,43	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	311/392,292/373,292/373,292/373,292/373	128709264	1,12995	2201	4297	6498	SO:0001583	missense	3758			BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.932G>A	11.37:g.128709264C>T	ENSP00000376432:p.Arg311Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	C	32	5.192115	0.94923	0.0	1.16E-4	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664	D;D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51;-3.51	5.63	5.63	0.86233	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98055	0.9359	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98703	1.0701	10	0.87932	D	0	.	19.6914	0.96002	0.0:1.0:0.0:0.0	.	311	P48048	IRK1_HUMAN	Q	292;292;292;292;311	ENSP00000376433:R292Q;ENSP00000376434:R292Q;ENSP00000406320:R292Q;ENSP00000316233:R292Q;ENSP00000376432:R311Q	ENSP00000316233:R292Q	R	-	2	0	KCNJ1	128214474	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.644000	0.89710	0.563000	0.77884	CGG		0.498	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220	
PDE4DIP	9659	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	144879218	144879218	+	Missense_Mutation	SNP	C	C	T	rs587744111	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:144879218C>T	ENST00000369354.3	-	27	4421	c.4232G>A	c.(4231-4233)aGt>aAt	p.S1411N	RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1411N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1367N|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S1547N|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1547N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1411					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATCAGGGACACTATGAGGTGA	0.547			T	PDGFRB	MPD																																	.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													94.0	98.0	97.0					1																	144879218		2203	4300	6503	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4232G>A	1.37:g.144879218C>T	ENSP00000358360:p.Ser1411Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468890	0.63625	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.02103	4.45;4.57;4.55;4.55;4.57	5.55	5.55	0.83447	.	.	.	.	.	T	0.03871	0.0109	M	0.66939	2.045	0.80722	D	1	D;P	0.55800	0.973;0.9	P;P	0.50490	0.642;0.576	T	0.48198	-0.9056	9	0.48119	T	0.1	.	17.002	0.86383	0.0:1.0:0.0:0.0	.	1367;1411	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	N	1367;1411;1411;1547;1547	ENSP00000327209:S1367N;ENSP00000358360:S1411N;ENSP00000358363:S1411N;ENSP00000435654:S1547N;ENSP00000358366:S1547N	ENSP00000327209:S1367N	S	-	2	0	PDE4DIP	143590575	1.000000	0.71417	0.844000	0.33320	0.112000	0.19704	6.873000	0.75541	2.616000	0.88540	0.591000	0.81541	AGT		0.547	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	
TRIM68	55128	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	4624492	4624492	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:4624492G>A	ENST00000300747.5	-	3	794	c.505C>T	c.(505-507)Cga>Tga	p.R169*		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	169					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTGGCAGTTCGTTTCCTTTCA	0.522																																						.											0													184.0	159.0	167.0					11																	4624492		2201	4298	6499	SO:0001587	stop_gained	55128			AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.505C>T	11.37:g.4624492G>A	ENSP00000300747:p.Arg169*	Somatic		WXS	Illumina HiSeq	Phase_I	A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Nonsense_Mutation	SNP	ENST00000300747.5	37	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	G	31	5.079343	0.94050	.	.	ENSG00000167333	ENST00000300747	.	.	.	4.76	1.54	0.23209	.	0.808617	0.10194	N	0.704299	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	4.9031	0.13784	0.1013:0.0:0.5219:0.3768	.	.	.	.	X	169	.	ENSP00000300747:R169X	R	-	1	2	TRIM68	4581068	0.009000	0.17119	0.530000	0.27963	0.775000	0.43874	1.533000	0.36040	0.674000	0.31244	0.561000	0.74099	CGA		0.522	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073	
LRP4	4038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	11	46911059	46911059	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:46911059G>A	ENST00000378623.1	-	16	2360	c.2118C>T	c.(2116-2118)aaC>aaT	p.N706N		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	706	EGF-like 3.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGCAGCCTCCGTTGTTGTCCC	0.587											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													75.0	72.0	73.0					11																	46911059		2201	4299	6500	SO:0001819	synonymous_variant	4038			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.2118C>T	11.37:g.46911059G>A		Somatic	942	WXS	Illumina HiSeq	Phase_I	B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	CCDS31478.1																																																																																				0.587	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334	
CIART	148523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	150259023	150259023	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:150259023G>A	ENST00000290363.5	+	5	1264	c.815G>A	c.(814-816)aGc>aAc	p.S272N	C1orf51_ENST00000369094.1_Missense_Mutation_p.S184N|C1orf51_ENST00000369095.1_Missense_Mutation_p.S272N	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		272					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCCCTCTCAGCTCCCCAGGT	0.527																																						.											0													229.0	185.0	200.0					1																	150259023		2203	4300	6503	SO:0001583	missense	148523																														ENST00000290363.5:c.815G>A	1.37:g.150259023G>A	ENSP00000290363:p.Ser272Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B2RD43|D3DV01|Q8N795|Q96MG6	Missense_Mutation	SNP	ENST00000290363.5	37	CCDS949.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099915	0.56183	.	.	ENSG00000159208	ENST00000447007;ENST00000369095;ENST00000369094;ENST00000417398;ENST00000290363	.	.	.	5.65	5.65	0.86999	.	0.583933	0.18710	N	0.133303	T	0.45716	0.1356	L	0.60455	1.87	0.30762	N	0.743957	B	0.30584	0.286	B	0.38985	0.287	T	0.50608	-0.8808	9	0.59425	D	0.04	-3.4695	16.751	0.85485	0.0:0.0:1.0:0.0	.	272	Q8N365	CA051_HUMAN	N	184;272;184;184;272	.	ENSP00000290363:S272N	S	+	2	0	C1orf51	148525647	0.426000	0.25506	0.494000	0.27515	0.805000	0.45488	4.988000	0.63863	2.941000	0.99782	0.655000	0.94253	AGC		0.527	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1		
RPRD2	23248	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	150445515	150445515	+	Missense_Mutation	SNP	G	G	A	rs372428982		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:150445515G>A	ENST00000369068.4	+	11	4095	c.4091G>A	c.(4090-4092)cGt>cAt	p.R1364H	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.R1338H	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1364	Pro-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GGCCTTAGCCGTGTACGAGAG	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		15852	0.0		0.0	False		,,,				2504	0.001					.											0								G	HIS/ARG	0,3872		0,0,1936	33.0	36.0	35.0		4091	3.5	1.0	1		35	2,8246		0,2,4122	no	missense	RPRD2	NM_015203.3	29	0,2,6058	AA,AG,GG		0.0242,0.0,0.0165	probably-damaging	1364/1462	150445515	2,12118	1936	4124	6060	SO:0001583	missense	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.4091G>A	1.37:g.150445515G>A	ENSP00000358064:p.Arg1364His	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504194	0.64410	0.0	2.42E-4	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.54866	0.55;0.56	4.43	3.52	0.40303	.	0.088754	0.45867	N	0.000333	T	0.43366	0.1244	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.63033	0.816;0.91	T	0.50145	-0.8862	10	0.59425	D	0.04	-2.0436	12.1687	0.54146	0.0841:0.0:0.9159:0.0	.	1364;1338	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	H	1338;1364	ENSP00000383785:R1338H;ENSP00000358064:R1364H	ENSP00000358064:R1364H	R	+	2	0	RPRD2	148712139	0.995000	0.38212	0.993000	0.49108	0.997000	0.91878	2.455000	0.44988	1.086000	0.41228	0.650000	0.86243	CGT		0.662	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203	
SELENBP1	8991	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	151339349	151339349	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:151339349G>A	ENST00000368868.5	-	6	604	c.513C>T	c.(511-513)ttC>ttT	p.F171F	SELENBP1_ENST00000473693.1_5'Flank|SELENBP1_ENST00000447402.3_Silent_p.F109F|SELENBP1_ENST00000435071.1_Silent_p.F107F|SELENBP1_ENST00000426705.2_Silent_p.F213F	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	171					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCTTCACCTCGAACGTCTCCC	0.582																																						.											0													180.0	155.0	163.0					1																	151339349		2203	4300	6503	SO:0001819	synonymous_variant	8991			U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.513C>T	1.37:g.151339349G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Silent	SNP	ENST00000368868.5	37	CCDS995.1	.	.	.	.	.	.	.	.	.	.	G	1.536	-0.542991	0.04053	.	.	ENSG00000143416	ENST00000424475	.	.	.	5.32	-4.56	0.03431	.	.	.	.	.	T	0.35682	0.0940	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48725	-0.9010	4	.	.	.	-17.87	8.8363	0.35115	0.3795:0.1209:0.4996:0.0	.	.	.	.	L	132	.	.	S	-	2	0	SELENBP1	149605973	0.039000	0.19947	0.228000	0.23943	0.160000	0.22226	-0.624000	0.05540	-0.793000	0.04475	-0.367000	0.07326	TCG		0.582	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4		
S100A4	6275	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	153516294	153516294	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:153516294C>T	ENST00000368716.4	-	3	394	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	S100A5_ENST00000368718.1_5'Flank|S100A4_ENST00000354332.4_Missense_Mutation_p.A83T|S100A4_ENST00000368714.1_Missense_Mutation_p.A83T|S100A4_ENST00000368715.1_Missense_Mutation_p.A83T|S100A5_ENST00000359215.1_5'Flank|S100A4_ENST00000481009.1_5'UTR	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4	83	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				epithelial to mesenchymal transition (GO:0001837)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)			large_intestine(2)|lung(1)|prostate(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Trifluoperazine(DB00831)	CACATCATGGCGATGCAGGAC	0.517																																						.											0													227.0	207.0	214.0					1																	153516294		2203	4300	6503	SO:0001583	missense	6275			BC016300	CCDS1042.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000196154	ENSG00000196154		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10494	protein-coding gene	gene with protein product	"""fibroblast-specific protein-1"""	114210	"""S100 calcium-binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)"", ""S100 calcium binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)"""	MTS1, CAPL		3155863	Standard	NM_019554		Approved	P9KA, 18A2, PEL98, 42A, FSP1	uc001fbz.3	P26447	OTTHUMG00000013546	ENST00000368716.4:c.247G>A	1.37:g.153516294C>T	ENSP00000357705:p.Ala83Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K7R8|D3DV46|Q6ICP8	Missense_Mutation	SNP	ENST00000368716.4	37	CCDS1042.1	.	.	.	.	.	.	.	.	.	.	C	5.809	0.333474	0.11013	.	.	ENSG00000196154	ENST00000368715;ENST00000354332;ENST00000368716;ENST00000368714;ENST00000545360	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	4.86	3.95	0.45737	EF-hand-like domain (1);	0.116893	0.64402	N	0.000018	T	0.01661	0.0053	N	0.05467	-0.045	0.37702	D	0.924244	B	0.30605	0.287	B	0.30401	0.115	T	0.31364	-0.9946	10	0.02654	T	1	.	9.0488	0.36363	0.0:0.8979:0.0:0.1021	.	83	P26447	S10A4_HUMAN	T	83;83;83;83;72	ENSP00000357704:A83T;ENSP00000346294:A83T;ENSP00000357705:A83T;ENSP00000357703:A83T	ENSP00000346294:A83T	A	-	1	0	S100A4	151782918	0.295000	0.24389	1.000000	0.80357	0.987000	0.75469	0.808000	0.27154	1.057000	0.40506	0.561000	0.74099	GCC		0.517	S100A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037714.1	NM_002961	
YY1AP1	55249	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	155629537	155629537	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:155629537A>G	ENST00000295566.4	-	11	2325	c.2302T>C	c.(2302-2304)Tct>Cct	p.S768P	YY1AP1_ENST00000361831.5_Missense_Mutation_p.S711P|YY1AP1_ENST00000355499.4_Missense_Mutation_p.S722P|YY1AP1_ENST00000368330.2_Missense_Mutation_p.S722P|YY1AP1_ENST00000359205.5_Missense_Mutation_p.S711P|YY1AP1_ENST00000404643.1_Missense_Mutation_p.S702P|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000535662.1_Missense_Mutation_p.S568P|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368339.5_Missense_Mutation_p.S860P|YY1AP1_ENST00000311573.5_Missense_Mutation_p.S691P|YY1AP1_ENST00000368340.5_Missense_Mutation_p.S840P|YY1AP1_ENST00000347088.5_Missense_Mutation_p.S722P|YY1AP1_ENST00000407221.1_Missense_Mutation_p.S691P	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	768					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TTGTTTAGAGACTCCTGGATG	0.498																																						.											0													110.0	111.0	111.0					1																	155629537		2203	4300	6503	SO:0001583	missense	55249			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.2302T>C	1.37:g.155629537A>G	ENSP00000295566:p.Ser768Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	a	14.36	2.513648	0.44763	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.26660	1.77;1.77;1.79;1.77;1.77;1.75;1.77;1.77;1.79;1.79;1.72;1.8	2.42	-0.388	0.12459	.	0.999489	0.08099	N	0.998101	T	0.16642	0.0400	L	0.47716	1.5	0.09310	N	1	P;D;P;P;P	0.54964	0.539;0.969;0.914;0.919;0.898	B;P;P;B;B	0.58391	0.064;0.461;0.838;0.419;0.434	T	0.10337	-1.0634	10	0.62326	D	0.03	.	1.6973	0.02865	0.5284:0.0:0.1833:0.2883	.	860;702;768;722;840	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	P	711;722;691;722;711;840;768;722;691;702;860;568	ENSP00000352134:S711P;ENSP00000347686:S722P;ENSP00000311138:S691P;ENSP00000316079:S722P;ENSP00000355298:S711P;ENSP00000357324:S840P;ENSP00000295566:S768P;ENSP00000357314:S722P;ENSP00000385791:S691P;ENSP00000385390:S702P;ENSP00000357323:S860P;ENSP00000437926:S568P	ENSP00000295566:S768P	S	-	1	0	YY1AP1	153896161	0.001000	0.12720	0.018000	0.16275	0.378000	0.30076	0.223000	0.17719	0.181000	0.19994	0.260000	0.18958	TCT		0.498	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118	
ARHGEF2	9181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	155921539	155921539	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:155921539G>A	ENST00000361247.4	-	18	2300	c.2201C>T	c.(2200-2202)cCg>cTg	p.P734L	ARHGEF2_ENST00000368316.1_Missense_Mutation_p.P706L|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.P779L|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.P733L|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.P706L|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.P735L	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	734					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P706Q(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CACCTCTTGCGGTGATCTCAG	0.517																																					Melanoma(178;35 2768 6610 28839)	.											1	Substitution - Missense(1)	lung(1)											107.0	107.0	107.0					1																	155921539		2203	4300	6503	SO:0001583	missense	9181			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.2201C>T	1.37:g.155921539G>A	ENSP00000354837:p.Pro734Leu	Somatic		WXS	Illumina HiSeq	Phase_I	D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.870583	0.33069	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8	5.23	4.32	0.51571	.	0.000000	0.43110	D	0.000609	T	0.02888	0.0086	L	0.40543	1.245	0.49687	D	0.999811	B;B;B	0.29716	0.125;0.255;0.08	B;B;B	0.16722	0.008;0.016;0.016	T	0.36601	-0.9741	10	0.17832	T	0.49	-29.7262	9.7219	0.40308	0.0928:0.0:0.9072:0.0	.	778;734;733	D3DVA5;Q92974;Q92974-2	.;ARHG2_HUMAN;.	L	706;734;735;706;733	ENSP00000315325:P706L;ENSP00000354837:P734L;ENSP00000357298:P735L;ENSP00000357299:P706L;ENSP00000314787:P733L	ENSP00000314787:P733L	P	-	2	0	ARHGEF2	154188163	1.000000	0.71417	0.990000	0.47175	0.727000	0.41649	4.930000	0.63462	1.435000	0.47434	0.655000	0.94253	CCG		0.517	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723	
SH2D2A	9047	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	156785800	156785800	+	Missense_Mutation	SNP	C	C	T	rs146718843	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:156785800C>T	ENST00000368199.3	-	2	274	c.121G>A	c.(121-123)Gcg>Acg	p.A41T	SH2D2A_ENST00000368198.3_Missense_Mutation_p.A23T|SH2D2A_ENST00000392306.2_Missense_Mutation_p.A41T|SH2D2A_ENST00000495306.1_5'UTR|NTRK1_ENST00000392302.2_Intron	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	41					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCACTCACCGCAGTGTAGCCC	0.602																																						.											0													68.0	66.0	66.0					1																	156785800		2203	4300	6503	SO:0001583	missense	9047			AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.121G>A	1.37:g.156785800C>T	ENSP00000357182:p.Ala41Thr	Somatic		WXS	Illumina HiSeq	Phase_I	O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	C	9.380	1.072670	0.20147	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.55413	0.54;0.52;0.95	4.81	0.587	0.17439	.	5.399390	0.00424	N	0.000064	T	0.12135	0.0295	N	0.14661	0.345	0.09310	N	1	B;B;B	0.14805	0.011;0.002;0.003	B;B;B	0.09377	0.004;0.002;0.001	T	0.04885	-1.0920	10	0.20046	T	0.44	3.1443	2.9431	0.05837	0.317:0.4389:0.1541:0.0901	.	41;23;41	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	T	41;23;41	ENSP00000357182:A41T;ENSP00000357181:A23T;ENSP00000376123:A41T	ENSP00000357181:A23T	A	-	1	0	SH2D2A	155052424	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.397000	0.07269	0.024000	0.15214	0.655000	0.94253	GCG		0.602	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975	
INSRR	3645	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	156814312	156814312	+	Silent	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:156814312G>T	ENST00000368195.3	-	14	3075	c.2679C>A	c.(2677-2679)acC>acA	p.T893T	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	893	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGCCAGTGAGGTTGCCCTAA	0.572																																						.											0													65.0	60.0	61.0					1																	156814312		2203	4300	6503	SO:0001819	synonymous_variant	3645			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.2679C>A	1.37:g.156814312G>T		Somatic		WXS	Illumina HiSeq	Phase_I	O60724|Q5VZS3	Silent	SNP	ENST00000368195.3	37	CCDS1160.1																																																																																				0.572	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215	
IGSF9	57549	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	159898623	159898623	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:159898623C>T	ENST00000368094.1	-	19	2752	c.2555G>A	c.(2554-2556)cGc>cAc	p.R852H	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.R836H	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	852	Pro-rich.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CATCACAAAGCGCCCGTCTGG	0.692																																						.											0													5.0	6.0	6.0					1																	159898623		2125	4175	6300	SO:0001583	missense	57549			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.2555G>A	1.37:g.159898623C>T	ENSP00000357073:p.Arg852His	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000368094.1	37	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775958	0.90195	.	.	ENSG00000085552	ENST00000361509;ENST00000368094	T;T	0.79033	-1.23;-1.17	5.15	5.15	0.70609	.	0.000000	0.38436	N	0.001699	D	0.83880	0.5350	M	0.66939	2.045	0.41370	D	0.987484	D	0.89917	1.0	D	0.83275	0.996	D	0.83801	0.0236	9	.	.	.	-16.8921	16.1159	0.81304	0.0:1.0:0.0:0.0	.	852	Q9P2J2	TUTLA_HUMAN	H	836;852	ENSP00000355049:R836H;ENSP00000357073:R852H	.	R	-	2	0	IGSF9	158165247	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.908000	0.63307	2.378000	0.81104	0.655000	0.94253	CGC		0.692	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789	
TMEM109	79073	hgsc.bcm.edu;mdanderson.org	37	11	60689599	60689599	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:60689599C>T	ENST00000227525.3	+	4	1097	c.694C>T	c.(694-696)Cga>Tga	p.R232*	RP11-881M11.4_ENST00000543907.1_RNA|TMEM132A_ENST00000005286.4_5'Flank|TMEM109_ENST00000536171.1_Nonsense_Mutation_p.R232*|TMEM132A_ENST00000453848.2_5'Flank	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	232					cellular response to gamma radiation (GO:0071480)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell death (GO:0060548)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						GCGCCAGAGGCGAGCGGCCAA	0.692																																						.											0																																										SO:0001587	stop_gained	79073				CCDS7996.1	11q12.2	2005-12-22				ENSG00000110108			28771	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_024092		Approved	MGC5508	uc001nqg.3	Q9BVC6		ENST00000227525.3:c.694C>T	11.37:g.60689599C>T	ENSP00000227525:p.Arg232*	Somatic		WXS	Illumina HiSeq	Phase_I		Nonsense_Mutation	SNP	ENST00000227525.3	37	CCDS7996.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307184	0.81247	.	.	ENSG00000110108	ENST00000227525;ENST00000536171	.	.	.	5.05	4.05	0.47172	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.47183	D	0.999345	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-36.6751	8.9868	0.35999	0.1609:0.751:0.0:0.0881	.	.	.	.	X	232	.	ENSP00000227525:R232X	R	+	1	2	TMEM109	60446175	0.920000	0.31207	0.993000	0.49108	0.983000	0.72400	1.480000	0.35464	2.344000	0.79699	0.650000	0.86243	CGA		0.692	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396343.1	NM_024092	
VPS37C	55048	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	60899839	60899839	+	Missense_Mutation	SNP	C	C	T	rs375223987		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:60899839C>T	ENST00000301765.5	-	5	753	c.521G>A	c.(520-522)cGt>cAt	p.R174H		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	174	Pro-rich.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						GGGTGGTGGACGGGGTGGAGG	0.672																																						.											0								C	HIS/ARG	0,4392		0,0,2196	12.0	15.0	14.0		521	3.7	0.1	11		14	1,8559		0,1,4279	no	missense	VPS37C	NM_017966.4	29	0,1,6475	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	174/356	60899839	1,12951	2196	4280	6476	SO:0001583	missense	55048			AK097326	CCDS31573.1	11q12.2	2008-02-05	2006-04-04			ENSG00000167987			26097	protein-coding gene	gene with protein product		610038	"""vacuolar protein sorting 37C (yeast)"""			15509564	Standard	XM_005274077		Approved	FLJ20847	uc001nqv.1	A5D8V6		ENST00000301765.5:c.521G>A	11.37:g.60899839C>T	ENSP00000301765:p.Arg174His	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N3K4	Missense_Mutation	SNP	ENST00000301765.5	37	CCDS31573.1	.	.	.	.	.	.	.	.	.	.	C	6.830	0.522243	0.13066	0.0	1.17E-4	ENSG00000167987	ENST00000301765;ENST00000540084	T	0.46451	0.87	4.71	3.67	0.42095	.	0.814749	0.11502	N	0.557626	T	0.21307	0.0513	L	0.27053	0.805	0.09310	N	1	P	0.45715	0.865	B	0.36504	0.226	T	0.04693	-1.0933	10	0.15066	T	0.55	-15.5277	2.6626	0.05031	0.0:0.4542:0.31:0.2359	.	174	A5D8V6	VP37C_HUMAN	H	174	ENSP00000301765:R174H	ENSP00000301765:R174H	R	-	2	0	VPS37C	60656415	0.000000	0.05858	0.123000	0.21794	0.470000	0.32858	0.020000	0.13466	2.165000	0.68154	0.462000	0.41574	CGT		0.672	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396467.1	NM_017966	
PPOX	5498	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	161139815	161139815	+	Splice_Site	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:161139815G>T	ENST00000367999.4	+	9	1253		c.e9+1		PPOX_ENST00000495483.1_Splice_Site|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000352210.5_Splice_Site	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase						heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCCTGTCCAGGTATGATAAAG	0.577																																						.											0													42.0	37.0	39.0					1																	161139815		2203	4300	6503	SO:0001630	splice_region_variant	5498			BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.987+1G>T	1.37:g.161139815G>T		Somatic		WXS	Illumina HiSeq	Phase_I	D3DVG0|Q5VTW8	Splice_Site	SNP	ENST00000367999.4	37	CCDS1221.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407846	0.42715	.	.	ENSG00000143224	ENST00000352210;ENST00000367999;ENST00000435935;ENST00000537829	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1667	0.48547	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPOX	159406439	1.000000	0.71417	0.993000	0.49108	0.633000	0.38033	6.684000	0.74538	2.005000	0.58758	0.305000	0.20034	.		0.577	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	NM_000309	Intron
DAGLA	747	hgsc.bcm.edu	37	11	61511437	61511437	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:61511437C>T	ENST00000257215.5	+	20	2721	c.2605C>T	c.(2605-2607)Cgg>Tgg	p.R869W	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	869					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CACTCCTGAGCGGCCCCCCAG	0.731																																						.											0													27.0	36.0	33.0					11																	61511437		2165	4215	6380	SO:0001583	missense	747			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2605C>T	11.37:g.61511437C>T	ENSP00000257215:p.Arg869Trp	Somatic		WXS	Illumina HiSeq	Phase_I	A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.408759	0.42715	.	.	ENSG00000134780	ENST00000257215	T	0.24723	1.84	3.21	2.27	0.28462	.	0.599264	0.16232	N	0.223561	T	0.15132	0.0365	N	0.14661	0.345	0.41869	D	0.990266	D	0.69078	0.997	B	0.44315	0.446	T	0.04915	-1.0918	10	0.72032	D	0.01	-24.8238	6.5939	0.22661	0.18:0.7248:0.0:0.0952	.	869	Q9Y4D2	DGLA_HUMAN	W	869	ENSP00000257215:R869W	ENSP00000257215:R869W	R	+	1	2	DAGLA	61268013	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	4.100000	0.57762	0.899000	0.36444	0.561000	0.74099	CGG		0.731	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133	
INCENP	3619	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	11	61906227	61906227	+	Silent	SNP	G	G	A	rs562346092	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:61906227G>A	ENST00000394818.3	+	6	1360	c.1158G>A	c.(1156-1158)gcG>gcA	p.A386A	INCENP_ENST00000278849.4_Silent_p.A386A	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	386					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AGCCTGTGGCGGCAGCTGAGC	0.637													G|||	2	0.000399361	0.0	0.0	5008	,	,		16788	0.0		0.0	False		,,,				2504	0.002					.											0													49.0	54.0	52.0					11																	61906227		2202	4299	6501	SO:0001819	synonymous_variant	3619			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.1158G>A	11.37:g.61906227G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8MQD2|Q5Y192	Silent	SNP	ENST00000394818.3	37	CCDS44624.1																																																																																				0.637	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238	
AHNAK	79026	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	11	62286931	62286931	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:62286931G>A	ENST00000378024.4	-	5	15232	c.14958C>T	c.(14956-14958)agC>agT	p.S4986S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4986					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGCTTTGGGGCTTTTTGCCC	0.458																																						.											0													85.0	91.0	89.0					11																	62286931		2202	4299	6501	SO:0001819	synonymous_variant	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14958C>T	11.37:g.62286931G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A1A586	Silent	SNP	ENST00000378024.4	37	CCDS31584.1																																																																																				0.458	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
SART1	9092	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	11	65744159	65744159	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:65744159C>T	ENST00000312397.5	+	14	1871	c.1779C>T	c.(1777-1779)aaC>aaT	p.N593N		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	593					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCTCAGCCAACGGTGGCTCCG	0.672																																						.											0													31.0	29.0	30.0					11																	65744159		2201	4296	6497	SO:0001819	synonymous_variant	9092			AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"""	605941	"""squamous cell carcinoma antigen recognised by T cells"""			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.1779C>T	11.37:g.65744159C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NDN1|Q53GB5	Silent	SNP	ENST00000312397.5	37	CCDS31611.1																																																																																				0.672	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391409.1		
DCHS1	8642	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	6650025	6650025	+	Missense_Mutation	SNP	G	G	A	rs146184962		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:6650025G>A	ENST00000299441.3	-	13	5609	c.5198C>T	c.(5197-5199)aCg>aTg	p.T1733M	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1733	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTGACATGCGTTAACTGAGG	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		24423	0.0		0.001	False		,,,				2504	0.0					.											0													84.0	74.0	77.0					11																	6650025		2201	4296	6497	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.5198C>T	11.37:g.6650025G>A	ENSP00000299441:p.Thr1733Met	Somatic		WXS	Illumina HiSeq	Phase_I	O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.19	1.566660	0.28003	.	.	ENSG00000166341	ENST00000299441	T	0.01725	4.67	4.58	3.62	0.41486	Cadherin (4);Cadherin-like (1);	0.150272	0.31041	N	0.008375	T	0.04724	0.0128	L	0.58810	1.83	0.32005	N	0.602907	D	0.59767	0.986	P	0.55667	0.781	T	0.02202	-1.1196	10	0.59425	D	0.04	.	8.5943	0.33705	0.0916:0.1692:0.7392:0.0	.	1733	Q96JQ0	PCD16_HUMAN	M	1733	ENSP00000299441:T1733M	ENSP00000299441:T1733M	T	-	2	0	DCHS1	6606601	1.000000	0.71417	1.000000	0.80357	0.135000	0.20990	7.390000	0.79816	2.385000	0.81259	0.563000	0.77884	ACG		0.557	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737	
PACS1	55690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	65978707	65978707	+	Missense_Mutation	SNP	G	G	A	rs142653069	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:65978707G>A	ENST00000320580.4	+	4	670	c.637G>A	c.(637-639)Gtg>Atg	p.V213M		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	213				Missing (in Ref. 2; BAC04831). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GACCTTGGCCGTGGGACTCAT	0.527																																						.											0								G	MET/VAL	0,4402		0,0,2201	155.0	126.0	136.0		637	4.2	1.0	11	dbSNP_134	136	4,8586	3.7+/-12.6	0,4,4291	yes	missense	PACS1	NM_018026.2	21	0,4,6492	AA,AG,GG		0.0466,0.0,0.0308	benign	213/964	65978707	4,12988	2201	4295	6496	SO:0001583	missense	55690			AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.637G>A	11.37:g.65978707G>A	ENSP00000316454:p.Val213Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656829	0.47467	0.0	4.66E-4	ENSG00000175115	ENST00000320580;ENST00000527380	T	0.26810	1.71	5.09	4.16	0.48862	.	0.345518	0.30959	N	0.008532	T	0.27559	0.0677	M	0.78637	2.42	0.80722	D	1	B;B	0.32893	0.066;0.389	B;B	0.19148	0.007;0.024	T	0.16541	-1.0399	10	0.51188	T	0.08	-20.3959	12.9718	0.58517	0.0817:0.0:0.9183:0.0	.	213;213	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	M	213;115	ENSP00000316454:V213M	ENSP00000316454:V213M	V	+	1	0	PACS1	65735283	0.856000	0.29760	0.999000	0.59377	0.853000	0.48598	1.113000	0.31184	2.659000	0.90383	0.313000	0.20887	GTG		0.527	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026	
DUSP27	92235	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	167088687	167088687	+	Silent	SNP	G	G	A	rs573463190		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:167088687G>A	ENST00000361200.2	+	5	805	c.639G>A	c.(637-639)gcG>gcA	p.A213A	DUSP27_ENST00000443333.1_Silent_p.A213A|DUSP27_ENST00000271385.5_Silent_p.A213A			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	213	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A213A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TGGATGAGGCGCTGCTGACTT	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18581	0.0		0.0	False		,,,				2504	0.0					.											1	Substitution - coding silent(1)	lung(1)											81.0	69.0	73.0					1																	167088687		2203	4300	6503	SO:0001819	synonymous_variant	92235			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.639G>A	1.37:g.167088687G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	CCDS30932.1																																																																																				0.532	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426	
PITPNM1	9600	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	67261522	67261522	+	Missense_Mutation	SNP	G	G	A	rs371845321		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:67261522G>A	ENST00000534749.1	-	19	3067	c.2879C>T	c.(2878-2880)aCg>aTg	p.T960M	PITPNM1_ENST00000356404.3_Missense_Mutation_p.T960M|PITPNM1_ENST00000436757.2_Missense_Mutation_p.T959M|PITPNM1_ENST00000526450.1_5'UTR			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	960					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CAGCGGCTGCGTCATGATGTA	0.652																																					GBM(28;144 709 4607 5525)	.											0								G	MET/THR,MET/THR	0,4398		0,0,2199	41.0	44.0	43.0		2876,2879	4.2	1.0	11		43	1,8589	1.2+/-3.3	0,1,4294	no	missense,missense	PITPNM1	NM_001130848.1,NM_004910.2	81,81	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	959/1244,960/1245	67261522	1,12987	2199	4295	6494	SO:0001583	missense	9600			X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.2879C>T	11.37:g.67261522G>A	ENSP00000437286:p.Thr960Met	Somatic		WXS	Illumina HiSeq	Phase_I	A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322959	0.81580	0.0	1.16E-4	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.49432	0.78;0.78;0.78	4.21	4.21	0.49690	.	0.000000	0.47852	D	0.000205	T	0.49201	0.1543	L	0.41492	1.28	0.58432	D	0.999999	P;D	0.60160	0.905;0.987	B;P	0.50754	0.305;0.649	T	0.52449	-0.8574	10	0.49607	T	0.09	-25.7326	15.5133	0.75802	0.0:0.0:1.0:0.0	.	959;960	O00562-2;O00562	.;PITM1_HUMAN	M	960;959;960	ENSP00000437286:T960M;ENSP00000398787:T959M;ENSP00000348772:T960M	ENSP00000348772:T960M	T	-	2	0	PITPNM1	67018098	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.624000	0.74243	2.071000	0.62044	0.305000	0.20034	ACG		0.652	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910	
TBX19	9095	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	168282043	168282043	+	Missense_Mutation	SNP	G	G	A	rs559696399		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:168282043G>A	ENST00000367821.3	+	8	1201	c.1150G>A	c.(1150-1152)Gga>Aga	p.G384R	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	384					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					ATTTCTCCTCGGAAACCCAGC	0.652													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19641	0.0		0.0	False		,,,				2504	0.0					.											0													70.0	62.0	65.0					1																	168282043		2203	4300	6503	SO:0001583	missense	9095			AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.1150G>A	1.37:g.168282043G>A	ENSP00000356795:p.Gly384Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q52M53	Missense_Mutation	SNP	ENST00000367821.3	37	CCDS1272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.92|16.92	3.256719|3.256719	0.59321|0.59321	.|.	.|.	ENSG00000143178|ENSG00000143178	ENST00000367821;ENST00000367828|ENST00000431969;ENST00000441464	D|.	0.94537|.	-3.45|.	5.65|5.65	3.71|3.71	0.42584|0.42584	.|.	1.018940|.	0.07797|.	N|.	0.955850|.	T|T	0.43255|0.43255	0.1239|0.1239	M|M	0.70595|0.70595	2.14|2.14	.|.	.|.	.|.	P;P|.	0.51240|.	0.866;0.943|.	B;B|.	0.40982|.	0.239;0.345|.	T|T	0.47195|0.47195	-0.9136|-0.9136	9|4	0.26408|.	T|.	0.33|.	.|.	6.1328|6.1328	0.20215|0.20215	0.2943:0.0:0.7057:0.0|0.2943:0.0:0.7057:0.0	.|.	384;252|.	O60806;B3KRD9|.	TBX19_HUMAN;.|.	R|Q	384;261|253;216	ENSP00000356795:G384R|.	ENSP00000356795:G384R|.	G|R	+|+	1|2	0|0	TBX19|TBX19	166548667|166548667	0.998000|0.998000	0.40836|0.40836	0.421000|0.421000	0.26609|0.26609	0.467000|0.467000	0.32768|0.32768	1.330000|1.330000	0.33781|0.33781	1.299000|1.299000	0.44798|0.44798	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.652	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149	
ARAP1	116985	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	11	72404807	72404807	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:72404807G>A	ENST00000393609.3	-	28	3940	c.3738C>T	c.(3736-3738)caC>caT	p.H1246H	ARAP1_ENST00000429686.1_Silent_p.H940H|ARAP1_ENST00000426523.1_Silent_p.H1001H|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393605.3_Silent_p.H1006H|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000359373.5_Silent_p.H1246H|ARAP1_ENST00000334211.8_Silent_p.H1001H|ARAP1_ENST00000455638.2_Silent_p.H1246H	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1246	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGCCCAGCCCGTGCAGGATGG	0.652																																					Ovarian(102;1198 1520 13195 17913 37529)	.											0													53.0	39.0	44.0					11																	72404807		2200	4292	6492	SO:0001819	synonymous_variant	116985			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.3738C>T	11.37:g.72404807G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Silent	SNP	ENST00000393609.3	37	CCDS41687.1																																																																																				0.652	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118	
UCP2	7351	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	73689005	73689005	+	Missense_Mutation	SNP	C	C	T	rs145061662		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:73689005C>T	ENST00000310473.3	-	4	1105	c.263G>A	c.(262-264)cGc>cAc	p.R88H	UCP2_ENST00000542615.1_5'Flank|UCP2_ENST00000536983.1_Missense_Mutation_p.R88H	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	88					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to amino acid starvation (GO:0034198)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|female pregnancy (GO:0007565)|liver regeneration (GO:0097421)|mitochondrial transport (GO:0006839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|positive regulation of cell death (GO:0010942)|proton transport (GO:0015992)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					GCTCATTTGGCGCTGCAGGCC	0.597																																					Colon(191;388 2040 43557 45622 48925)	.											0								C	HIS/ARG	0,4400		0,0,2200	70.0	69.0	69.0		263	5.2	1.0	11	dbSNP_134	69	2,8584	2.2+/-6.3	0,2,4291	yes	missense	UCP2	NM_003355.2	29	0,2,6491	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	88/310	73689005	2,12984	2200	4293	6493	SO:0001583	missense	7351			U76367	CCDS8228.1	11q13	2014-02-12						"""Solute carriers"""	12518	protein-coding gene	gene with protein product		601693	"""body mass index QTL 4"", ""body mass index quantitative trait 4"""	BMIQ4		9196039, 11381268	Standard	NM_003355		Approved	SLC25A8	uc001oup.1	P55851		ENST00000310473.3:c.263G>A	11.37:g.73689005C>T	ENSP00000312029:p.Arg88His	Somatic		WXS	Illumina HiSeq	Phase_I	Q4PJH8|Q53HM3	Missense_Mutation	SNP	ENST00000310473.3	37	CCDS8228.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035217	0.93575	0.0	2.33E-4	ENSG00000175567	ENST00000310473;ENST00000536983;ENST00000544615	D;D;D	0.81659	-1.52;-1.52;-1.52	6.07	5.15	0.70609	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.93933	0.8058	H	0.98351	4.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.96356	0.9262	10	0.87932	D	0	-7.1629	16.1962	0.82025	0.0:0.8667:0.1333:0.0	.	88;88	F5GX45;P55851	.;UCP2_HUMAN	H	88;88;61	ENSP00000312029:R88H;ENSP00000441147:R88H;ENSP00000439951:R61H	ENSP00000312029:R88H	R	-	2	0	UCP2	73366653	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.776000	0.85560	1.562000	0.49601	0.655000	0.94253	CGC		0.597	UCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398108.1	NM_003355	
PADI4	23569	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	17664602	17664602	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:17664602G>A	ENST00000375448.4	+	5	504	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	160					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AGACAATCTCGAATCTTCTGC	0.527																																						.											0													152.0	128.0	136.0					1																	17664602		2203	4300	6503	SO:0001583	missense	23569			AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.478G>A	1.37:g.17664602G>A	ENSP00000364597:p.Glu160Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	ENST00000375448.4	37	CCDS180.1	.	.	.	.	.	.	.	.	.	.	g	7.390	0.630670	0.14322	.	.	ENSG00000159339	ENST00000375448	T	0.16597	2.33	5.15	-10.3	0.00346	Protein-arginine deiminase (PAD), central domain (2);	1.431090	0.04168	N	0.324253	T	0.02455	0.0075	N	0.00237	-1.79	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.26538	-1.0100	10	0.09338	T	0.73	0.0019	3.264	0.06859	0.3132:0.3875:0.204:0.0953	.	160;160	A8K392;Q9UM07	.;PADI4_HUMAN	K	160	ENSP00000364597:E160K	ENSP00000364597:E160K	E	+	1	0	PADI4	17537189	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.930000	0.01557	-2.431000	0.00556	-2.173000	0.00322	GAA		0.527	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387	
NLRP10	338322	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	7982431	7982431	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:7982431C>T	ENST00000328600.2	-	2	889	c.728G>A	c.(727-729)cGg>cAg	p.R243Q		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	243	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAACAGGAGCCGCTCTGGCTG	0.552																																						.											0													42.0	43.0	43.0					11																	7982431		2201	4296	6497	SO:0001583	missense	338322			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.728G>A	11.37:g.7982431C>T	ENSP00000327763:p.Arg243Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192945	0.58017	.	.	ENSG00000182261	ENST00000328600	D	0.83591	-1.74	4.85	2.94	0.34122	NACHT nucleoside triphosphatase (1);	0.000000	0.35207	N	0.003364	D	0.87795	0.6267	M	0.66439	2.03	0.24750	N	0.992983	D	0.89917	1.0	D	0.85130	0.997	T	0.77940	-0.2399	10	0.59425	D	0.04	.	8.135	0.31050	0.0:0.7994:0.0:0.2006	.	243	Q86W26	NAL10_HUMAN	Q	243	ENSP00000327763:R243Q	ENSP00000327763:R243Q	R	-	2	0	NLRP10	7939007	0.002000	0.14202	0.998000	0.56505	0.447000	0.32167	1.326000	0.33735	1.207000	0.43291	-0.140000	0.14226	CGG		0.552	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821	
QSOX1	5768	broad.mit.edu;hgsc.bcm.edu	37	1	180135639	180135639	+	Silent	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:180135639C>A	ENST00000367602.3	+	2	353	c.279C>A	c.(277-279)gcC>gcA	p.A93A	QSOX1_ENST00000367600.5_Silent_p.A93A			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	93	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGAGGCCGGCCCTGTATCTCG	0.592																																						.											0													76.0	72.0	73.0					1																	180135639		2203	4300	6503	SO:0001819	synonymous_variant	5768			U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"""quiescin Q6"""	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.279C>A	1.37:g.180135639C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Silent	SNP	ENST00000367602.3	37	CCDS1337.1																																																																																				0.592	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826	
RGSL1	353299	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	182509444	182509444	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:182509444G>A	ENST00000294854.8	+	15	2577	c.2557G>A	c.(2557-2559)Gca>Aca	p.A853T	RGSL1_ENST00000542961.1_Missense_Mutation_p.A888T	NM_001137669.1	NP_001131141.1	A5PLK6	RGSL_HUMAN	regulator of G-protein signaling like 1	853					termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)				central_nervous_system(2)|skin(4)	6						TGTCCGGAGTGCAGACCAAGA	0.418																																					Ovarian(71;11 616 11292 12944 18021 32289 33994 41738 46526)	.											0													168.0	149.0	155.0					1																	182509444		692	1591	2283	SO:0001583	missense	353299			AF510428	CCDS58049.1	1q25	2013-04-02	2007-08-14		ENSG00000121446	ENSG00000121446			18636	protein-coding gene	gene with protein product		611012	"""regulator of G-protein signalling like 1"", ""regulator of G-protein signaling like 2"", ""regulator of G-protein signalling like 2"""	RGSL2		12801632	Standard	NM_001137669		Approved		uc009wxw.3	A5PLK6	OTTHUMG00000035217	ENST00000294854.8:c.2557G>A	1.37:g.182509444G>A	ENSP00000457748:p.Ala853Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A2A2Z0|A6PVM2|A6PVM3|Q0VAJ4|Q0VAJ5|Q6ZRL0|Q86UV0|Q9H084	Missense_Mutation	SNP	ENST00000294854.8	37	CCDS58049.1																																																																																				0.418	RGSL1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320710.3	NM_181572	
TPR	7175	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	186289518	186289518	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:186289518C>T	ENST00000367478.4	-	46	6790	c.6494G>A	c.(6493-6495)cGg>cAg	p.R2165Q		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2165					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGGCCCAAACCGGAATCTAGG	0.403			T	NTRK1	papillary thyroid																																	.		Dom	yes		1	1q25	7175	translocated promoter region		E	0													82.0	74.0	77.0					1																	186289518		1856	4088	5944	SO:0001583	missense	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.6494G>A	1.37:g.186289518C>T	ENSP00000356448:p.Arg2165Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	35	5.541373	0.96474	.	.	ENSG00000047410	ENST00000367478	T	0.26067	1.76	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.47764	0.1463	M	0.71581	2.175	0.58432	D	0.999996	D	0.76494	0.999	P	0.56751	0.805	T	0.50268	-0.8848	10	0.87932	D	0	.	19.2507	0.93923	0.0:1.0:0.0:0.0	.	2165	P12270	TPR_HUMAN	Q	2165	ENSP00000356448:R2165Q	ENSP00000356448:R2165Q	R	-	2	0	TPR	184556141	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	6.924000	0.75823	2.538000	0.85594	0.563000	0.77884	CGG		0.403	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292	
CHORDC1	26973	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	11	89935620	89935620	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:89935620G>T	ENST00000320585.6	-	11	1361	c.952C>A	c.(952-954)Cct>Act	p.P318T	CHORDC1_ENST00000457199.2_Missense_Mutation_p.P299T|CHORDC1_ENST00000529726.1_Missense_Mutation_p.P130T|CHORDC1_ENST00000529987.1_Missense_Mutation_p.P130T	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	318					chaperone-mediated protein folding (GO:0061077)|negative regulation of Rho-dependent protein serine/threonine kinase activity (GO:2000299)|regulation of cellular response to heat (GO:1900034)|regulation of centrosome duplication (GO:0010824)|response to stress (GO:0006950)		Hsp90 protein binding (GO:0051879)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				TTAGCTGCAGGCAGTTCAAGG	0.393																																						.											0													103.0	88.0	93.0					11																	89935620		2200	4298	6498	SO:0001583	missense	26973			AF192466	CCDS8289.1, CCDS44705.1	11q14.3	2011-01-25	2011-01-25		ENSG00000110172	ENSG00000110172			14525	protein-coding gene	gene with protein product		604353	"""cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1"", ""cysteine and histidine-rich domain (CHORD)-containing 1"""			10571178	Standard	NM_012124		Approved	CHP1	uc001pdg.2	Q9UHD1	OTTHUMG00000167305	ENST00000320585.6:c.952C>A	11.37:g.89935620G>T	ENSP00000319255:p.Pro318Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B2R6P8|Q6IN49|Q8WVL9|Q9H3D6	Missense_Mutation	SNP	ENST00000320585.6	37	CCDS8289.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486590	0.84854	.	.	ENSG00000110172	ENST00000320585;ENST00000529987;ENST00000457199;ENST00000529726	T;T;T;T	0.43294	0.96;0.99;0.95;0.99	5.43	5.43	0.79202	HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	T	0.53997	0.1831	L	0.35542	1.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.978	T	0.48007	-0.9072	9	.	.	.	-0.1676	17.486	0.87688	0.0:0.0:1.0:0.0	.	299;318	Q9UHD1-2;Q9UHD1	.;CHRD1_HUMAN	T	318;130;299;130	ENSP00000319255:P318T;ENSP00000433719:P130T;ENSP00000401080:P299T;ENSP00000436632:P130T	.	P	-	1	0	CHORDC1	89575268	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	8.594000	0.90836	2.539000	0.85634	0.650000	0.86243	CCT		0.393	CHORDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394111.1	NM_012124	
FAT3	120114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	11	92086239	92086239	+	Silent	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:92086239T>C	ENST00000298047.6	+	1	978	c.961T>C	c.(961-963)Ttg>Ctg	p.L321L	FAT3_ENST00000409404.2_Silent_p.L321L|FAT3_ENST00000525166.1_Silent_p.L171L|FAT3_ENST00000541502.1_Silent_p.L321L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	321	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGGAAAGTGGTTGAATGAGTA	0.448										TCGA Ovarian(4;0.039)																												.											0													76.0	71.0	72.0					11																	92086239		1954	4153	6107	SO:0001819	synonymous_variant	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.961T>C	11.37:g.92086239T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																					0.448	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
PIWIL4	143689	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	11	94353042	94353042	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:94353042G>A	ENST00000299001.6	+	18	2496	c.2285G>A	c.(2284-2286)cGt>cAt	p.R762H	PIWIL4_ENST00000537419.1_Missense_Mutation_p.R113H|RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	762	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GAAGCAACACGTAACGAATGG	0.428																																						.											0													122.0	107.0	112.0					11																	94353042		2201	4298	6499	SO:0001583	missense	143689			AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.2285G>A	11.37:g.94353042G>A	ENSP00000299001:p.Arg762His	Somatic		WXS	Illumina HiSeq	Phase_I	B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	ENST00000299001.6	37	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213149	0.39102	.	.	ENSG00000134627	ENST00000299001;ENST00000537419	T;T	0.28666	1.6;1.6	5.13	3.25	0.37280	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.099888	0.39544	N	0.001325	T	0.43055	0.1230	L	0.52011	1.625	0.35257	D	0.779229	D	0.89917	1.0	D	0.87578	0.998	T	0.47661	-0.9100	10	0.13853	T	0.58	-6.5072	10.3432	0.43891	0.1625:0.0:0.8375:0.0	.	762	Q7Z3Z4	PIWL4_HUMAN	H	762;113	ENSP00000299001:R762H;ENSP00000439710:R113H	ENSP00000299001:R762H	R	+	2	0	PIWIL4	93992690	1.000000	0.71417	0.024000	0.17045	0.238000	0.25445	6.741000	0.74837	0.561000	0.29186	0.561000	0.74099	CGT		0.428	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431	
GABRD	2563	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	1956478	1956478	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:1956478C>T	ENST00000378585.4	+	2	249	c.166C>T	c.(166-168)Cgg>Tgg	p.R56W		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	56					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|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)	CCGCAACTTCCGGCCTGGCAT	0.682																																						.											0													29.0	31.0	30.0					1																	1956478		2203	4299	6502	SO:0001583	missense	2563			BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.166C>T	1.37:g.1956478C>T	ENSP00000367848:p.Arg56Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37	CCDS36.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997979	0.54147	.	.	ENSG00000187730	ENST00000378585	D	0.83591	-1.74	4.84	3.8	0.43715	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.64402	D	0.000002	D	0.89993	0.6876	M	0.82630	2.6	0.58432	D	0.999992	D	0.89917	1.0	D	0.87578	0.998	D	0.90344	0.4361	10	0.87932	D	0	-17.3036	9.5764	0.39461	0.3134:0.6866:0.0:0.0	.	56	O14764	GBRD_HUMAN	W	56	ENSP00000367848:R56W	ENSP00000367848:R56W	R	+	1	2	GABRD	1946338	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	1.696000	0.37773	2.425000	0.82216	0.555000	0.69702	CGG		0.682	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815	
SBF2	81846	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	9802030	9802030	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:9802030C>T	ENST00000256190.8	-	40	5622	c.5485G>A	c.(5485-5487)Gcc>Acc	p.A1829T	SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000527406.1_RNA|SBF2-AS1_ENST00000498905.2_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1829	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.A1829T(1)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CCATCCTGGGCGCAGAAGTTA	0.488																																						.											1	Substitution - Missense(1)	large_intestine(1)											141.0	119.0	127.0					11																	9802030		2201	4294	6495	SO:0001583	missense	81846			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.5485G>A	11.37:g.9802030C>T	ENSP00000256190:p.Ala1829Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	C	36	5.743529	0.96873	.	.	ENSG00000133812	ENST00000256190	T	0.27557	1.66	5.93	5.93	0.95920	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.64605	0.2613	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68599	-0.5366	10	0.87932	D	0	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	1829	Q86WG5	MTMRD_HUMAN	T	1829	ENSP00000256190:A1829T	ENSP00000256190:A1829T	A	-	1	0	SBF2	9758606	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	5.918000	0.69996	2.814000	0.96858	0.655000	0.94253	GCC		0.488	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962	
TMCO4	255104	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	20067419	20067419	+	Missense_Mutation	SNP	G	G	A	rs371982006		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:20067419G>A	ENST00000294543.6	-	11	1134	c.893C>T	c.(892-894)cCg>cTg	p.P298L	TMCO4_ENST00000375122.2_Missense_Mutation_p.P258L|TMCO4_ENST00000375127.1_Missense_Mutation_p.P298L|TMCO4_ENST00000489814.1_5'Flank	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	298						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GGCAGCCCACGGGGCACTGAA	0.617																																						.											0								G	LEU/PRO	0,4406		0,0,2203	39.0	35.0	36.0		893	5.3	1.0	1		36	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMCO4	NM_181719.4	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	298/635	20067419	1,13005	2203	4300	6503	SO:0001583	missense	255104				CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.893C>T	1.37:g.20067419G>A	ENSP00000294543:p.Pro298Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	ENST00000294543.6	37	CCDS198.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100784	0.76983	0.0	1.16E-4	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.46063	0.88;0.88;0.88	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.65964	0.2742	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.69873	-0.5027	10	0.72032	D	0.01	-13.9474	16.5542	0.84481	0.0:0.0:1.0:0.0	.	298	Q5TGY1	TMCO4_HUMAN	L	298;298;258	ENSP00000294543:P298L;ENSP00000364269:P298L;ENSP00000364264:P258L	ENSP00000294543:P298L	P	-	2	0	TMCO4	19940006	1.000000	0.71417	0.954000	0.39281	0.583000	0.36354	9.114000	0.94329	2.506000	0.84524	0.655000	0.94253	CCG		0.617	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719	
CACNA1S	779	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	201029943	201029943	+	Splice_Site	SNP	C	C	T	rs1800559		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:201029943C>T	ENST00000362061.3	-	26	3483	c.3257G>A	c.(3256-3258)cGc>cAc	p.R1086H	CACNA1S_ENST00000367338.3_Splice_Site_p.R1086H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1086			R -> H (in MHS5; dbSNP:rs1800559). {ECO:0000269|PubMed:9199552}.		axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R1086H(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TACACATTGGCGCTGTGACAC	0.562																																						.											1	Substitution - Missense(1)	large_intestine(1)	GRCh37	CM970210	CACNA1S	M	rs1800559						211.0	204.0	206.0					1																	201029943		2203	4300	6503	SO:0001630	splice_region_variant	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3256-1G>A	1.37:g.201029943C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044776	0.55110	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96885	-4.16;-4.08	5.17	4.26	0.50523	.	0.152379	0.64402	D	0.000015	D	0.98460	0.9487	M	0.93638	3.44	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.99342	1.0912	10	0.87932	D	0	.	13.6178	0.62120	0.0:0.9234:0.0:0.0766	rs1800559;rs28931587	1086	Q13698	CAC1S_HUMAN	H	1086	ENSP00000355192:R1086H;ENSP00000356307:R1086H	ENSP00000355192:R1086H	R	-	2	0	CACNA1S	199296566	1.000000	0.71417	1.000000	0.80357	0.031000	0.12232	7.774000	0.85478	1.297000	0.44761	-0.136000	0.14681	CGC		0.562	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	Missense_Mutation
CACNA1S	779	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	1	201060823	201060823	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:201060823G>A	ENST00000362061.3	-	5	865	c.639C>T	c.(637-639)atC>atT	p.I213I	CACNA1S_ENST00000367338.3_Silent_p.I213I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	213					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCTCCAGCCCGATGATGGCAT	0.567																																						.											0													115.0	99.0	105.0					1																	201060823		2203	4300	6503	SO:0001819	synonymous_variant	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.639C>T	1.37:g.201060823G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	CCDS1407.1																																																																																				0.567	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	
CNTN2	6900	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	205041226	205041226	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:205041226C>T	ENST00000331830.4	+	20	2980	c.2696C>T	c.(2695-2697)gCc>gTc	p.A899V		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	899	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACTGGGCCTGCCAGCCCTTCT	0.627																																					Melanoma(183;2548 2817 37099 41192)	.											0													79.0	81.0	80.0					1																	205041226		2203	4300	6503	SO:0001583	missense	6900			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.2696C>T	1.37:g.205041226C>T	ENSP00000330633:p.Ala899Val	Somatic		WXS	Illumina HiSeq	Phase_I	P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	c	35	5.582083	0.96578	.	.	ENSG00000184144	ENST00000331830	T	0.17370	2.28	5.69	5.69	0.88448	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.292700	0.24087	U	0.041661	T	0.36663	0.0975	L	0.58583	1.82	0.40376	D	0.97939	B;D	0.54207	0.277;0.965	P;P	0.59221	0.474;0.854	T	0.01188	-1.1424	10	0.38643	T	0.18	.	19.4013	0.94630	0.0:1.0:0.0:0.0	.	899;790	Q02246;Q68DA2	CNTN2_HUMAN;.	V	899	ENSP00000330633:A899V	ENSP00000330633:A899V	A	+	2	0	CNTN2	203307849	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.768000	0.85345	2.683000	0.91414	0.651000	0.88453	GCC		0.627	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076	
GNPTAB	79158	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	102164267	102164267	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:102164267G>A	ENST00000299314.7	-	9	1292	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	GNPTAB_ENST00000549940.1_Missense_Mutation_p.R344W|RP11-511H9.3_ENST00000600133.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	344					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						AAAATATTCCGAACCCATGGT	0.453																																						.											0													108.0	88.0	94.0					12																	102164267		2203	4300	6503	SO:0001583	missense	79158			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1030C>T	12.37:g.102164267G>A	ENSP00000299314:p.Arg344Trp	Somatic		WXS	Illumina HiSeq	Phase_I	A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175474	0.78564	.	.	ENSG00000111670	ENST00000299314;ENST00000549940	D;D	0.92965	-3.14;-3.14	5.62	3.61	0.41365	.	0.000000	0.85682	D	0.000000	D	0.97034	0.9031	H	0.96269	3.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.97564	1.0100	10	0.87932	D	0	-21.6459	12.2157	0.54404	0.069:0.0:0.8031:0.1279	.	344;344	Q3T906-2;Q3T906	.;GNPTA_HUMAN	W	344	ENSP00000299314:R344W;ENSP00000449150:R344W	ENSP00000299314:R344W	R	-	1	2	GNPTAB	100688398	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.381000	0.59587	1.372000	0.46190	0.655000	0.94253	CGG		0.453	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1		
GLT8D2	83468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	12	104391269	104391269	+	Silent	SNP	G	G	A	rs142096211	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:104391269G>A	ENST00000360814.4	-	7	852	c.447C>T	c.(445-447)caC>caT	p.H149H	GLT8D2_ENST00000546436.1_Silent_p.H149H|GLT8D2_ENST00000548660.1_Silent_p.H149H	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	149						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TGACTTTCTCGTGTTGGTGGA	0.403																																						.											0								G		6,4400	11.4+/-27.6	0,6,2197	174.0	173.0	173.0		447	-9.5	0.7	12	dbSNP_134	173	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	GLT8D2	NM_031302.3		0,14,6489	AA,AG,GG		0.093,0.1362,0.1076		149/350	104391269	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	83468			BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"""Glycosyltransferase family 8 domain containing"""	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.447C>T	12.37:g.104391269G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q96KA2	Silent	SNP	ENST00000360814.4	37	CCDS9096.1																																																																																				0.403	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302	
SVOP	55530	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	12	109316565	109316565	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:109316565G>A	ENST00000299134.5	-	10	860	c.861C>T	c.(859-861)gtC>gtT	p.V287V		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	ion transmembrane transporter activity (GO:0015075)			breast(2)|lung(4)	6						GCCTTCTTCCGACTGGAGACT	0.542																																						.											0													60.0	57.0	58.0					12																	109316565		1959	4154	6113	SO:0001819	synonymous_variant	55530			BC033587	CCDS73520.1	12q24.11	2011-07-12				ENSG00000166111			25417	protein-coding gene	gene with protein product		611699					Standard	NM_018711		Approved	DKFZp761H039	uc010sxh.1	Q8N4V2		ENST00000299134.5:c.861C>T	12.37:g.109316565G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q9NPW5	Missense_Mutation	SNP	ENST00000299134.5	37																																																																																					0.542	SVOP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic	protein_coding	protein_coding	OTTHUMT00000403982.1	NM_018711	
MYO1H	283446	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	109882246	109882246	+	Missense_Mutation	SNP	G	G	A	rs369009537		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:109882246G>A	ENST00000431443.2	+	29	2887	c.2887G>A	c.(2887-2889)Gtt>Att	p.V963I	RP11-256L11.3_ENST00000539987.1_RNA|MYO1H_ENST00000310903.5_Missense_Mutation_p.V953I	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	963	Myosin tail. {ECO:0000255}.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						GGGGGATGCCGTTTTGCAGTG	0.453																																						.											0													124.0	117.0	119.0					12																	109882246		1960	4161	6121	SO:0001583	missense	283446				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.2887G>A	12.37:g.109882246G>A	ENSP00000444076:p.Val963Ile	Somatic		WXS	Illumina HiSeq	Phase_I	F5H3C6	Missense_Mutation	SNP	ENST00000431443.2	37		.	.	.	.	.	.	.	.	.	.	G	0.010	-1.781801	0.00634	.	.	ENSG00000174527	ENST00000310903;ENST00000431443;ENST00000542268	T;T	0.39229	1.09;1.09	5.6	-6.93	0.01638	Myosin tail 2 (1);	.	.	.	.	T	0.14700	0.0355	N	0.03016	-0.435	0.09310	N	1	B;B	0.13145	0.007;0.006	B;B	0.13407	0.009;0.003	T	0.43032	-0.9416	9	0.02654	T	1	.	13.9631	0.64193	0.5982:0.0:0.4018:0.0	.	963;953	Q8N1T3;F5H3C6	MYO1H_HUMAN;.	I	953;963;144	ENSP00000439182:V953I;ENSP00000444076:V963I	ENSP00000439182:V953I	V	+	1	0	MYO1H	108366629	0.290000	0.24343	0.003000	0.11579	0.023000	0.10783	0.355000	0.20163	-1.700000	0.01414	-1.642000	0.00770	GTT		0.453	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597	
GIT2	9815	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	110390995	110390995	+	Missense_Mutation	SNP	C	C	T	rs560157222	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:110390995C>T	ENST00000355312.3	-	13	1143	c.1144G>A	c.(1144-1146)Gtt>Att	p.V382I	GIT2_ENST00000360185.4_Missense_Mutation_p.V382I|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000547815.1_Missense_Mutation_p.V382I|GIT2_ENST00000338373.5_Missense_Mutation_p.V382I|GIT2_ENST00000356259.4_Missense_Mutation_p.V382I|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000354574.4_Missense_Mutation_p.V384I|GIT2_ENST00000320063.9_Missense_Mutation_p.V382I|GIT2_ENST00000551209.1_Missense_Mutation_p.V381I|GIT2_ENST00000553118.1_Missense_Mutation_p.V382I|GIT2_ENST00000457474.2_Missense_Mutation_p.V384I|GIT2_ENST00000361006.5_Missense_Mutation_p.V382I	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	382					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TGACTCTCAACGCTGTGCTGG	0.428													C|||	5	0.000998403	0.0	0.0	5008	,	,		22911	0.0		0.0	False		,,,				2504	0.0051					.											0													253.0	212.0	226.0					12																	110390995		2203	4300	6503	SO:0001583	missense	9815			AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.1144G>A	12.37:g.110390995C>T	ENSP00000347464:p.Val382Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.718157	0.30503	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000338373;ENST00000356259;ENST00000457474;ENST00000361006;ENST00000553118;ENST00000551209;ENST00000542273;ENST00000547815;ENST00000320063	T;T;T;T;T;T;T;T;T;T;T	0.71222	-0.54;-0.49;-0.47;-0.44;-0.46;-0.44;-0.55;-0.54;-0.52;-0.49;-0.5	5.22	-4.34	0.03666	.	0.604715	0.18446	N	0.140997	T	0.45196	0.1330	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B	0.11235	0.003;0.004;0.0;0.0;0.001;0.0;0.0	B;B;B;B;B;B;B	0.12156	0.007;0.001;0.0;0.0;0.002;0.0;0.001	T	0.28267	-1.0049	10	0.36615	T	0.2	.	12.9502	0.58397	0.0:0.2543:0.0:0.7457	.	382;382;384;384;382;382;382	B4E2E7;Q6FI58;Q14161-10;F8WAK2;Q14161-11;Q14161;Q14161-5	.;.;.;.;.;GIT2_HUMAN;.	I	382;382;384;382;382;384;382;382;381;320;382;382	ENSP00000347464:V382I;ENSP00000353312:V382I;ENSP00000346585:V384I;ENSP00000340342:V382I;ENSP00000348595:V382I;ENSP00000391813:V384I;ENSP00000354282:V382I;ENSP00000447465:V382I;ENSP00000448832:V381I;ENSP00000450348:V382I;ENSP00000323833:V382I	ENSP00000323833:V382I	V	-	1	0	GIT2	108875378	0.001000	0.12720	0.006000	0.13384	0.714000	0.41099	0.052000	0.14163	-0.534000	0.06315	-0.752000	0.03492	GTT		0.428	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169	
OAS1	4938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	113346548	113346548	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:113346548C>T	ENST00000202917.5	+	2	651	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	OAS1_ENST00000551241.1_Missense_Mutation_p.R130C|OAS1_ENST00000553185.1_Missense_Mutation_p.R130C|OAS1_ENST00000445409.2_Missense_Mutation_p.R130C|OAS1_ENST00000452357.2_Missense_Mutation_p.R130C|RP1-71H24.1_ENST00000552784.1_RNA	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	130					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GGGCAACCCCCGTGCGCTCAG	0.577																																						.											0													81.0	77.0	78.0					12																	113346548		2203	4300	6503	SO:0001583	missense	4938			X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"""2',5'-oligoadenylate synthetase 1 (40-46 kD)"""	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.388C>T	12.37:g.113346548C>T	ENSP00000202917:p.Arg130Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	ENST00000202917.5	37	CCDS41838.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926322	0.52759	.	.	ENSG00000089127	ENST00000202917;ENST00000445409;ENST00000452357;ENST00000549820;ENST00000551241;ENST00000377508;ENST00000553185;ENST00000550689	T;T;T;T;T;T	0.09723	2.95;2.95;2.95;2.95;2.95;2.95	4.31	2.4	0.29515	.	0.563411	0.15923	N	0.238042	T	0.34919	0.0914	M	0.91510	3.215	0.22581	N	0.998969	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.83275	0.995;0.993;0.991;0.996;0.993;0.988	T	0.13072	-1.0523	10	0.87932	D	0	-25.987	5.0945	0.14725	0.2056:0.6858:0.0:0.1087	.	130;130;130;130;130;130	B4DWE7;E7EMI9;F8VXY3;P00973;P00973-3;P00973-2	.;.;.;OAS1_HUMAN;.;.	C	130;130;130;130;130;130;130;126	ENSP00000202917:R130C;ENSP00000388001:R130C;ENSP00000415721:R130C;ENSP00000448790:R130C;ENSP00000448001:R130C;ENSP00000448348:R126C	ENSP00000202917:R130C	R	+	1	0	OAS1	111830931	0.151000	0.22747	0.204000	0.23530	0.009000	0.06853	0.901000	0.28445	0.541000	0.28827	0.455000	0.32223	CGT		0.577	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2		
LOH12CR1	118426	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	12618601	12618601	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:12618601T>C	ENST00000314565.4	+	4	813	c.482T>C	c.(481-483)aTg>aCg	p.M161T	LOH12CR1_ENST00000542728.1_Missense_Mutation_p.M142T|LOH12CR1_ENST00000298571.6_Missense_Mutation_p.M113T	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN	loss of heterozygosity, 12, chromosomal region 1	161										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		CGCATACAGATGGGCATCGAC	0.607																																						.											0													80.0	63.0	69.0					12																	12618601		2203	4300	6503	SO:0001583	missense	118426			AY037865	CCDS8649.1, CCDS73448.1	12p12	2008-07-03			ENSG00000165714	ENSG00000165714			17950	protein-coding gene	gene with protein product						11896457, 15284860	Standard	XR_242885		Approved	LOH1CR12	uc001ral.2	Q969J3	OTTHUMG00000168542	ENST00000314565.4:c.482T>C	12.37:g.12618601T>C	ENSP00000321546:p.Met161Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q96QS5	Missense_Mutation	SNP	ENST00000314565.4	37	CCDS8649.1	.	.	.	.	.	.	.	.	.	.	T	5.793	0.330582	0.10956	.	.	ENSG00000165714	ENST00000542728;ENST00000314565;ENST00000298571	T;T;T	0.42513	0.97;0.97;0.97	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.31295	0.0792	L	0.38838	1.175	0.58432	D	0.999996	B;B	0.30634	0.119;0.288	B;B	0.29267	0.067;0.1	T	0.09228	-1.0684	10	0.07990	T	0.79	-29.0378	14.4761	0.67546	0.0:0.0:0.0:1.0	.	113;161	Q969J3-2;Q969J3	.;L12R1_HUMAN	T	142;161;113	ENSP00000443023:M142T;ENSP00000321546:M161T;ENSP00000298571:M113T	ENSP00000298571:M113T	M	+	2	0	LOH12CR1	12509868	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	7.649000	0.83500	2.151000	0.67156	0.455000	0.32223	ATG		0.607	LOH12CR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400150.1		
PLBD2	196463	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	113825669	113825669	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:113825669C>A	ENST00000280800.3	+	11	1591	c.1560C>A	c.(1558-1560)ttC>ttA	p.F520L	PLBD2_ENST00000545182.2_Missense_Mutation_p.F488L	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	520					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCTACCCCTTCCAGGCCCTGC	0.632																																						.											0													146.0	145.0	145.0					12																	113825669		2203	4300	6503	SO:0001583	missense	196463			BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1560C>A	12.37:g.113825669C>A	ENSP00000280800:p.Phe520Leu	Somatic		WXS	Illumina HiSeq	Phase_I	F5H5E2	Missense_Mutation	SNP	ENST00000280800.3	37	CCDS9168.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067603	0.36470	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	T;T	0.17370	2.28;2.28	5.07	3.18	0.36537	.	0.000000	0.85682	D	0.000000	T	0.18676	0.0448	L	0.56340	1.77	0.29869	N	0.826998	P;P	0.37525	0.598;0.528	B;B	0.41374	0.355;0.274	T	0.06285	-1.0835	10	0.51188	T	0.08	-34.3898	8.5231	0.33289	0.0:0.6392:0.0:0.3608	.	488;520	F5H5E2;Q8NHP8	.;PLBL2_HUMAN	L	488;520	ENSP00000443463:F488L;ENSP00000280800:F520L	ENSP00000280800:F520L	F	+	3	2	PLBD2	112310052	1.000000	0.71417	0.972000	0.41901	0.529000	0.34654	1.313000	0.33585	1.251000	0.43983	0.555000	0.69702	TTC		0.632	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542	
C12orf60	144608	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	14976228	14976228	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:14976228C>T	ENST00000330828.2	+	2	563	c.359C>T	c.(358-360)aCg>aTg	p.T120M	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	120										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						AGTGCCCATACGCCAGTCATC	0.428																																						.											0													159.0	156.0	157.0					12																	14976228		2203	4300	6503	SO:0001583	missense	144608			BC038836	CCDS8667.1	12p12.3	2012-08-16			ENSG00000182993	ENSG00000182993			28726	protein-coding gene	gene with protein product						12477932	Standard	NM_175874		Approved	MGC47869	uc001rcj.4	Q5U649	OTTHUMG00000167473	ENST00000330828.2:c.359C>T	12.37:g.14976228C>T	ENSP00000331691:p.Thr120Met	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1M7|Q5XKK8|Q8IXY2	Missense_Mutation	SNP	ENST00000330828.2	37	CCDS8667.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.480950	0.44044	.	.	ENSG00000182993	ENST00000330828	T	0.18174	2.23	4.62	-1.82	0.07857	.	1.310590	0.05203	N	0.505336	T	0.09818	0.0241	L	0.32530	0.975	0.09310	N	1	P	0.37398	0.593	B	0.24701	0.055	T	0.27606	-1.0069	10	0.59425	D	0.04	-5.0763	3.2598	0.06845	0.2825:0.3048:0.0:0.4127	.	120	Q5U649	CL060_HUMAN	M	120	ENSP00000331691:T120M	ENSP00000331691:T120M	T	+	2	0	C12orf60	14867495	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-1.809000	0.01731	-0.207000	0.10187	0.561000	0.74099	ACG		0.428	C12orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394735.1	NM_175874	
POLE	5426	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	133250211	133250211	+	Missense_Mutation	SNP	C	C	T	rs115047349		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:133250211C>T	ENST00000320574.5	-	13	1352	c.1309G>A	c.(1309-1311)Gtg>Atg	p.V437M	POLE_ENST00000535270.1_Missense_Mutation_p.V410M	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	437					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TCTAGCTCCACGGGATCATAG	0.617								DNA polymerases (catalytic subunits)																														.											0													137.0	129.0	132.0					12																	133250211		2203	4300	6503	SO:0001583	missense	5426				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.1309G>A	12.37:g.133250211C>T	ENSP00000322570:p.Val437Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645576	0.67358	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577;ENST00000535934	T;T;T;T	0.47177	4.7;4.7;4.7;0.85	5.62	5.62	0.85841	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.67458	0.2895	M	0.76433	2.335	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.59595	0.86;0.815	T	0.68953	-0.5273	10	0.56958	D	0.05	.	19.656	0.95842	0.0:1.0:0.0:0.0	.	410;437	F5H1D6;Q07864	.;DPOE1_HUMAN	M	437;448;410;217;372;55	ENSP00000322570:V437M;ENSP00000406383:V448M;ENSP00000445753:V410M;ENSP00000442519:V217M	ENSP00000322570:V437M	V	-	1	0	POLE	131760284	1.000000	0.71417	0.975000	0.42487	0.086000	0.17979	7.736000	0.84948	2.660000	0.90430	0.305000	0.20034	GTG		0.617	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231	
ALPL	249	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	21887145	21887145	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:21887145C>T	ENST00000374840.3	+	3	338	c.88C>T	c.(88-90)Cga>Tga	p.R30*	ALPL_ENST00000539907.1_5'UTR|ALPL_ENST00000540617.1_5'UTR|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000425315.2_Nonsense_Mutation_p.R30*|ALPL_ENST00000374832.1_Nonsense_Mutation_p.R30*	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	30					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	CAAGTACTGGCGAGACCAAGC	0.517																																						.											0													92.0	90.0	91.0					1																	21887145		2203	4300	6503	SO:0001587	stop_gained	249			BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.88C>T	1.37:g.21887145C>T	ENSP00000363973:p.Arg30*	Somatic		WXS	Illumina HiSeq	Phase_I	A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Nonsense_Mutation	SNP	ENST00000374840.3	37	CCDS217.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522219	0.85600	.	.	ENSG00000162551	ENST00000374840;ENST00000374832;ENST00000425315	.	.	.	5.71	0.99	0.19807	.	0.095596	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-7.7262	14.81	0.69989	0.4959:0.504:0.0:0.0	.	.	.	.	X	30	.	ENSP00000363965:R30X	R	+	1	2	ALPL	21759732	0.969000	0.33509	0.933000	0.37362	0.228000	0.25075	0.388000	0.20735	0.243000	0.21327	-0.314000	0.08810	CGA		0.517	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	NM_000478	
ITPR2	3709	hgsc.bcm.edu;ucsc.edu	37	12	26581017	26581017	+	Silent	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:26581017T>C	ENST00000381340.3	-	49	7190	c.6774A>G	c.(6772-6774)acA>acG	p.T2258T		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2258					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	ATGGAGAAAGTGTACCTGTAA	0.358																																						.											0													63.0	57.0	59.0					12																	26581017		1845	4093	5938	SO:0001819	synonymous_variant	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.6774A>G	12.37:g.26581017T>C		Somatic		WXS	Illumina HiSeq	Phase_I	O94773	Silent	SNP	ENST00000381340.3	37	CCDS41764.1																																																																																				0.358	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	
JMJD4	65094	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	227921193	227921193	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:227921193G>A	ENST00000366758.3	-	4	881	c.882C>T	c.(880-882)ggC>ggT	p.G294G	JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000366759.4_5'Flank|SNAP47_ENST00000480897.1_3'UTR|SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_5'Flank|JMJD4_ENST00000438896.2_Silent_p.G294G	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	294	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				CCAAGGGTGGGCCAGCAAGCT	0.642																																						.											0													69.0	55.0	60.0					1																	227921193		2201	4300	6501	SO:0001819	synonymous_variant	65094			AK022579	CCDS1561.1, CCDS59203.1	1q42.13	2008-02-05			ENSG00000081692	ENSG00000081692			25724	protein-coding gene	gene with protein product						12477932	Standard	NM_023007		Approved	FLJ12517	uc001hrb.3	Q9H9V9	OTTHUMG00000037698	ENST00000366758.3:c.882C>T	1.37:g.227921193G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5TBZ1|Q5TBZ6|Q9H970	Silent	SNP	ENST00000366758.3	37	CCDS1561.1	.	.	.	.	.	.	.	.	.	.	.	1.828	-0.470611	0.04445	.	.	ENSG00000081692	ENST00000438896	.	.	.	4.5	1.43	0.22495	.	.	.	.	.	T	0.51193	0.1660	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39941	-0.9589	4	.	.	.	-14.187	4.7081	0.12860	0.2132:0.0:0.612:0.1748	.	.	.	.	V	287	.	.	A	-	2	0	JMJD4	225987816	1.000000	0.71417	0.031000	0.17742	0.214000	0.24535	0.895000	0.28363	0.554000	0.29061	0.655000	0.94253	GCC		0.642	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091970.1	NM_023007	
KLHL42	57542	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	12	27933686	27933686	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:27933686G>A	ENST00000381271.2	+	1	734	c.423G>A	c.(421-423)ggG>ggA	p.G141G	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	141					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											AGGTGTACGGGCTGCCCGACC	0.657																																						.											0													51.0	55.0	54.0					12																	27933686		2203	4300	6503	SO:0001819	synonymous_variant	57542			AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.423G>A	12.37:g.27933686G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q2VPK1|Q8N334	Silent	SNP	ENST00000381271.2	37	CCDS31763.1																																																																																				0.657	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782	
HEATR1	55127	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	236762781	236762781	+	Splice_Site	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:236762781A>G	ENST00000366582.3	-	4	616		c.e4+1		HEATR1_ENST00000366581.2_Splice_Site|HEATR1_ENST00000483073.1_Splice_Site	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1						rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CAGCAATTATACCTTAACTGG	0.353																																						.											0													83.0	80.0	81.0					1																	236762781		2203	4300	6503	SO:0001630	splice_region_variant	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.501+1T>C	1.37:g.236762781A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q5T3Q8|Q6P197|Q9NW23	Splice_Site	SNP	ENST00000366582.3	37	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	A	14.85	2.658177	0.47467	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5903	0.76523	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HEATR1	234829404	1.000000	0.71417	0.994000	0.49952	0.558000	0.35554	7.087000	0.76893	2.128000	0.65567	0.459000	0.35465	.		0.353	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853	Intron
NLRP3	114548	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	247587215	247587215	+	Missense_Mutation	SNP	G	G	A	rs533920557		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:247587215G>A	ENST00000336119.3	+	3	1216	c.470G>A	c.(469-471)cGt>cAt	p.R157H	NLRP3_ENST00000348069.2_Missense_Mutation_p.R157H|NLRP3_ENST00000391827.2_Missense_Mutation_p.R157H|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.R157H|NLRP3_ENST00000366497.2_Missense_Mutation_p.R157H|NLRP3_ENST00000391828.3_Missense_Mutation_p.R157H	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	157					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.R157H(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGGAATGCCCGTCTGGGTGAG	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		21031	0.001		0.0	False		,,,				2504	0.0					.											2	Substitution - Missense(2)	prostate(1)|endometrium(1)											95.0	75.0	82.0					1																	247587215		2203	4300	6503	SO:0001583	missense	114548			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.470G>A	1.37:g.247587215G>A	ENSP00000337383:p.Arg157His	Somatic		WXS	Illumina HiSeq	Phase_I	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359037	0.61403	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48;-2.48	4.27	4.27	0.50696	.	0.000000	0.51477	D	0.000081	D	0.92319	0.7563	M	0.71206	2.165	0.33532	D	0.593746	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;0.958	D;D;D;D;P	0.97110	0.917;0.975;1.0;0.924;0.585	D	0.90744	0.4652	10	0.15066	T	0.55	.	12.5127	0.56015	0.0:0.0:1.0:0.0	.	157;157;157;157;157	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	H	157	ENSP00000375704:R157H;ENSP00000355453:R157H;ENSP00000337383:R157H;ENSP00000294752:R157H;ENSP00000355452:R157H;ENSP00000375703:R157H	ENSP00000337383:R157H	R	+	2	0	NLRP3	245653838	0.043000	0.20138	0.997000	0.53966	0.916000	0.54674	2.089000	0.41672	2.669000	0.90835	0.655000	0.94253	CGT		0.522	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895	
TRIM58	25893	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	248031300	248031300	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:248031300T>C	ENST00000366481.3	+	5	854	c.806T>C	c.(805-807)aTc>aCc	p.I269T	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	269						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCAGAGAACATCCCCATGGAA	0.532																																						.											0													103.0	94.0	97.0					1																	248031300		2203	4300	6503	SO:0001583	missense	25893			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.806T>C	1.37:g.248031300T>C	ENSP00000355437:p.Ile269Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	T	3.105	-0.183845	0.06340	.	.	ENSG00000162722	ENST00000366481	T	0.05996	3.36	5.12	3.98	0.46160	.	0.359505	0.23849	N	0.043970	T	0.05640	0.0148	L	0.38692	1.165	0.22401	N	0.999132	B	0.14438	0.01	B	0.12156	0.007	T	0.34925	-0.9809	10	0.30078	T	0.28	.	7.9931	0.30252	0.0:0.0946:0.0:0.9054	.	269	Q8NG06	TRI58_HUMAN	T	269	ENSP00000355437:I269T	ENSP00000355437:I269T	I	+	2	0	TRIM58	246097923	0.005000	0.15991	0.006000	0.13384	0.059000	0.15707	1.574000	0.36482	1.039000	0.40074	0.533000	0.62120	ATC		0.532	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431	
VDR	7421	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	48272845	48272845	+	Missense_Mutation	SNP	G	G	A	rs147496897	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:48272845G>A	ENST00000395324.2	-	3	320	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W	VDR_ENST00000535672.1_5'UTR|VDR_ENST00000549336.1_Missense_Mutation_p.R18W|VDR_ENST00000550325.1_Missense_Mutation_p.R68W|VDR_ENST00000229022.3_Missense_Mutation_p.R18W			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	18					bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GGCACGTTCCGGTCAAAGTCT	0.587													G|||	2	0.000399361	0.0008	0.0	5008	,	,		12672	0.0		0.0	False		,,,				2504	0.001					.											0													107.0	89.0	95.0					12																	48272845		2203	4300	6503	SO:0001583	missense	7421			J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"""Nuclear hormone receptors"""	12679	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 163"""	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.52C>T	12.37:g.48272845G>A	ENSP00000378734:p.Arg18Trp	Somatic		WXS	Illumina HiSeq	Phase_I	B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	ENST00000395324.2	37	CCDS8757.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785656	0.70337	.	.	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000546653;ENST00000550314;ENST00000548664	D;D;D;D;D;D;D	0.94537	-3.37;-3.37;-3.37;-3.37;-2.92;-3.45;-3.3	5.58	5.58	0.84498	.	0.134840	0.50627	D	0.000118	D	0.96667	0.8912	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.73708	0.918;0.981	D	0.96760	0.9560	10	0.87932	D	0	.	13.1559	0.59516	0.0:0.0:0.8403:0.1597	.	18;68	P11473;G3V1V9	VDR_HUMAN;.	W	18;18;18;68;18;18;18	ENSP00000378734:R18W;ENSP00000229022:R18W;ENSP00000449573:R18W;ENSP00000447173:R68W;ENSP00000448659:R18W;ENSP00000449561:R18W;ENSP00000450105:R18W	ENSP00000229022:R18W	R	-	1	2	VDR	46559112	0.992000	0.36948	1.000000	0.80357	0.937000	0.57800	0.594000	0.24014	2.630000	0.89119	0.655000	0.94253	CGG		0.587	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1		
PGBD2	267002	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	249211775	249211775	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:249211775T>C	ENST00000329291.5	+	3	1139	c.992T>C	c.(991-993)gTa>gCa	p.V331A	PGBD2_ENST00000355360.4_Missense_Mutation_p.V80A|PGBD2_ENST00000539153.1_Missense_Mutation_p.V328A	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	331										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGCAGTATGGTAATAAAATTT	0.458																																						.											0													126.0	129.0	128.0					1																	249211775		2203	4300	6503	SO:0001583	missense	267002			AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.992T>C	1.37:g.249211775T>C	ENSP00000331643:p.Val331Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.842924	0.51057	.	.	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	T;T;T	0.25085	1.82;1.82;1.82	3.91	3.91	0.45181	.	0.126959	0.32578	N	0.005910	T	0.48840	0.1522	M	0.80616	2.505	0.29977	N	0.818056	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.994	T	0.49943	-0.8885	10	0.49607	T	0.09	-17.4516	9.3396	0.38071	0.0:0.0:0.0:1.0	.	328;331	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	A	80;331;328	ENSP00000355424:V80A;ENSP00000331643:V331A;ENSP00000439950:V328A	ENSP00000331643:V331A	V	+	2	0	PGBD2	247178398	1.000000	0.71417	0.630000	0.29268	0.660000	0.38997	3.412000	0.52679	1.765000	0.52091	0.460000	0.39030	GTA		0.458	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1		
RND1	27289	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	12	49251932	49251932	+	Silent	SNP	C	C	T	rs145827381	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:49251932C>T	ENST00000309739.5	-	5	676	c.546G>A	c.(544-546)acG>acA	p.T182T		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	182					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|GTP catabolic process (GO:0006184)|negative regulation of cell adhesion (GO:0007162)|neuron remodeling (GO:0016322)|small GTPase mediated signal transduction (GO:0007264)	adherens junction (GO:0005912)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						GCATGGATGCCGTCCGAAAGA	0.557													C|||	2	0.000399361	0.0	0.0	5008	,	,		16084	0.002		0.0	False		,,,				2504	0.0					.											0													123.0	110.0	115.0					12																	49251932		2203	4300	6503	SO:0001819	synonymous_variant	27289			Y07923	CCDS8771.1	12q12	2008-01-23				ENSG00000172602			18314	protein-coding gene	gene with protein product	"""ras homolog gene family, member S"""	609038				9531558	Standard	NM_014470		Approved	Rho6, ARHS, RHOS	uc001rsn.3	Q92730	OTTHUMG00000170400	ENST00000309739.5:c.546G>A	12.37:g.49251932C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K9P7	Silent	SNP	ENST00000309739.5	37	CCDS8771.1																																																																																				0.557	RND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408915.1	NM_014470	
PRKAG1	5571	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	49396782	49396782	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:49396782C>T	ENST00000548065.1	-	12	1352	c.896G>A	c.(895-897)cGa>cAa	p.R299Q	PRKAG1_ENST00000395170.3_Missense_Mutation_p.R215Q|PRKAG1_ENST00000316299.5_Missense_Mutation_p.R308Q|PRKAG1_ENST00000552212.1_Missense_Mutation_p.R267Q|RP11-386G11.5_ENST00000552284.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.R248Q|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	299	CBS 4. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.R299Q(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	CACTACAAGTCGGTGAACCTG	0.542																																						.											1	Substitution - Missense(1)	large_intestine(1)											146.0	119.0	128.0					12																	49396782		2203	4300	6503	SO:0001583	missense	5571			U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.896G>A	12.37:g.49396782C>T	ENSP00000447433:p.Arg299Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B4DDT7|Q8N7V9	Missense_Mutation	SNP	ENST00000548065.1	37	CCDS8777.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.526842	0.64860	.	.	ENSG00000181929	ENST00000548362;ENST00000395170;ENST00000547306;ENST00000316299;ENST00000548065;ENST00000552212;ENST00000551770;ENST00000551696	D;D;D;D;D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49	5.18	4.28	0.50868	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);	0.056121	0.64402	D	0.000001	D	0.97620	0.9220	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98472	1.0601	10	0.87932	D	0	-4.9987	14.178	0.65555	0.151:0.849:0.0:0.0	.	308;299	Q8N7V9;P54619	.;AAKG1_HUMAN	Q	64;215;248;308;299;267;219;193	ENSP00000446987:R64Q;ENSP00000378599:R215Q;ENSP00000448873:R248Q;ENSP00000323867:R308Q;ENSP00000447433:R299Q;ENSP00000448972:R267Q;ENSP00000449121:R219Q;ENSP00000447671:R193Q	ENSP00000323867:R308Q	R	-	2	0	PRKAG1	47683049	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.574000	0.82434	1.402000	0.46780	0.655000	0.94253	CGA		0.542	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408946.1	NM_002733	
PRPF40B	25766	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	50025707	50025707	+	Splice_Site	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:50025707C>T	ENST00000380281.1	+	3	291	c.227C>T	c.(226-228)gCg>gTg	p.A76V	PRPF40B_ENST00000548825.2_Splice_Site_p.A98V|PRPF40B_ENST00000261897.1_Splice_Site_p.A70V			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	76					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GTCACCGCAGCGGTAAGCACT	0.542																																						.											0													166.0	151.0	156.0					12																	50025707		2203	4300	6503	SO:0001630	splice_region_variant	25766			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.228+1C>T	12.37:g.50025707C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37		.	.	.	.	.	.	.	.	.	.	C	15.05	2.717180	0.48622	.	.	ENSG00000110844	ENST00000548825;ENST00000261897;ENST00000380281	T;T;T	0.25912	1.77;1.84;1.78	4.86	3.97	0.46021	.	0.196494	0.33834	N	0.004505	T	0.13756	0.0333	N	0.19112	0.55	0.34778	D	0.734407	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.16808	-1.0390	9	.	.	.	-6.4768	6.9653	0.24619	0.0:0.7305:0.1757:0.0938	.	76;70;76	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	V	98;70;76	ENSP00000448073:A98V;ENSP00000261897:A70V;ENSP00000369634:A76V	.	A	+	2	0	PRPF40B	48311974	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	0.740000	0.26188	1.401000	0.46761	0.655000	0.94253	GCG		0.542	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272	Missense_Mutation
KCNA1	3736	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	12	5020791	5020791	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:5020791G>T	ENST00000382545.3	+	2	1354	c.247G>T	c.(247-249)Gac>Tac	p.D83Y	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	83					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	GTACTTCTTCGACCGCAACCG	0.632																																						.											0													65.0	66.0	66.0					12																	5020791		2203	4300	6503	SO:0001583	missense	3736			L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.247G>T	12.37:g.5020791G>T	ENSP00000371985:p.Asp83Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528424	0.64860	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.85773	-2.03	4.34	3.44	0.39384	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.95774	0.8625	H	0.99650	4.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96686	0.9507	10	0.87932	D	0	.	13.0486	0.58942	0.0:0.0:0.8379:0.1621	.	83	Q09470	KCNA1_HUMAN	Y	83	ENSP00000371985:D83Y	ENSP00000228858:D83Y	D	+	1	0	KCNA1	4891052	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.699000	0.84547	1.152000	0.42452	0.650000	0.86243	GAC		0.632	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217	
NCKAP5L	57701	broad.mit.edu;hgsc.bcm.edu	37	12	50185655	50185655	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:50185655G>A	ENST00000335999.6	-	13	4173	c.3972C>T	c.(3970-3972)taC>taT	p.Y1324Y		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1320										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						ACAGCGAGTCGTAGAGTGAGT	0.687																																						.											0													17.0	22.0	21.0					12																	50185655		2007	4171	6178	SO:0001819	synonymous_variant	57701			AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.3972C>T	12.37:g.50185655G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Silent	SNP	ENST00000335999.6	37	CCDS41781.2																																																																																				0.687	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497	
GALNT6	11226	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	51752021	51752021	+	Nonsense_Mutation	SNP	G	G	A	rs200682302		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:51752021G>A	ENST00000543196.2	-	8	1598	c.1393C>T	c.(1393-1395)Cga>Tga	p.R465*	GALNT6_ENST00000356317.3_Nonsense_Mutation_p.R465*			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	465					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R465*(1)		endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AGCTGCAGTCGTTCCGAAATG	0.468													g|||	1	0.000199681	0.0	0.0	5008	,	,		16880	0.0		0.0	False		,,,				2504	0.001					.											1	Substitution - Nonsense(1)	skin(1)							stop/ARG	0,4406		0,0,2203	226.0	189.0	201.0		1393	3.0	0.9	12		201	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	GALNT6	NM_007210.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		465/623	51752021	1,13005	2203	4300	6503	SO:0001587	stop_gained	11226			Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1393C>T	12.37:g.51752021G>A	ENSP00000444171:p.Arg465*	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IYH4|Q9H6G2|Q9UIV5	Nonsense_Mutation	SNP	ENST00000543196.2	37	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	g	38	7.025785	0.98010	0.0	1.16E-4	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	.	.	.	3.95	3.05	0.35203	.	0.563076	0.19138	N	0.121749	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8734	0.46896	0.0:0.0:0.662:0.338	.	.	.	.	X	465;465;446	.	ENSP00000348668:R465X	R	-	1	2	GALNT6	50038288	0.273000	0.24181	0.862000	0.33874	0.948000	0.59901	0.695000	0.25527	1.215000	0.43411	0.457000	0.33378	CGA		0.468	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210	
KRT6C	286887	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	12	52867039	52867039	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:52867039G>A	ENST00000252250.6	-	1	530	c.483C>T	c.(481-483)gcC>gcT	p.A161A		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	161	Head.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CACGCTCCTCGGCCCGCACCC	0.612																																						.											0													34.0	25.0	28.0					12																	52867039		2187	4104	6291	SO:0001819	synonymous_variant	286887			L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.483C>T	12.37:g.52867039G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP	ENST00000252250.6	37	CCDS8829.1																																																																																				0.612	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086	
KRT5	3852	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	12	52910639	52910639	+	Silent	SNP	G	G	A	rs539263098		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:52910639G>A	ENST00000252242.4	-	7	1611	c.1221C>T	c.(1219-1221)tgC>tgT	p.C407C		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	407	Coil 2.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCAGATTGGCGCACTACAGAT	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		20701	0.0		0.0	False		,,,				2504	0.001					.											0													53.0	49.0	51.0					12																	52910639		2203	4300	6503	SO:0001819	synonymous_variant	3852				CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1221C>T	12.37:g.52910639G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	37	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	G	7.163	0.586132	0.13749	.	.	ENSG00000186081	ENST00000548409	.	.	.	5.72	-5.42	0.02640	.	.	.	.	.	T	0.65270	0.2675	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67067	-0.5764	4	.	.	.	.	16.6149	0.84904	0.6611:0.0:0.3389:0.0	.	.	.	.	C	115	.	.	R	-	1	0	KRT5	51196906	0.000000	0.05858	0.889000	0.34880	0.847000	0.48162	-1.493000	0.02298	-0.962000	0.03604	-0.122000	0.15005	CGC		0.572	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1		
ESPL1	9700	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	12	53663207	53663207	+	Missense_Mutation	SNP	C	C	T	rs145536592		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:53663207C>T	ENST00000257934.4	+	3	572	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	ESPL1_ENST00000552462.1_Missense_Mutation_p.R161W	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	161					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCTGTTGGAACGGCGAGCTGC	0.577																																					Colon(53;1069 1201 2587 5382)	.											0								C	TRP/ARG	0,4406		0,0,2203	78.0	83.0	82.0		481	1.9	0.0	12	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	missense	ESPL1	NM_012291.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	161/2121	53663207	1,13005	2203	4300	6503	SO:0001583	missense	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.481C>T	12.37:g.53663207C>T	ENSP00000257934:p.Arg161Trp	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000257934.4	37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.465148	0.26335	0.0	1.16E-4	ENSG00000135476	ENST00000257934;ENST00000552462	T;T	0.13778	2.56;2.56	4.89	1.85	0.25348	.	0.549157	0.17944	N	0.156737	T	0.17238	0.0414	L	0.57536	1.79	0.09310	N	1	D	0.62365	0.991	B	0.44315	0.446	T	0.09079	-1.0691	10	0.66056	D	0.02	.	12.8226	0.57702	0.4273:0.5727:0.0:0.0	.	161	Q14674	ESPL1_HUMAN	W	161	ENSP00000257934:R161W;ENSP00000449831:R161W	ENSP00000257934:R161W	R	+	1	2	ESPL1	51949474	0.000000	0.05858	0.007000	0.13788	0.086000	0.17979	0.105000	0.15333	0.279000	0.22186	0.561000	0.74099	CGG		0.577	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291	
MAP3K12	7786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	53895879	53895879	+	5'Flank	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:53895879C>T	ENST00000267079.2	-	0	0				MAP3K12_ENST00000547151.1_5'Flank|MAP3K12_ENST00000547488.1_5'Flank|TARBP2_ENST00000552857.1_Intron|RP11-793H13.11_ENST00000602306.1_RNA|TARBP2_ENST00000394357.2_Missense_Mutation_p.T24M|TARBP2_ENST00000266987.2_Missense_Mutation_p.T45M|TARBP2_ENST00000456234.2_Missense_Mutation_p.T24M|TARBP2_ENST00000549028.1_3'UTR	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12						histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						ATAGGGAAGACGCCTGTGTAC	0.597																																						.											0													105.0	88.0	94.0					12																	53895879		2203	4300	6503	SO:0001631	upstream_gene_variant	6895			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854		12.37:g.53895879C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_I	B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270886	0.80469	.	.	ENSG00000139546	ENST00000266987;ENST00000456234;ENST00000549610;ENST00000394357	T;T;T	0.76709	-1.04;-1.04;-1.04	3.95	3.95	0.45737	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.86924	0.6050	M	0.73753	2.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	D	0.87989	0.2748	10	0.52906	T	0.07	-9.0831	15.2673	0.73672	0.0:1.0:0.0:0.0	.	45;45;45	F8VWR8;A8K3X2;Q15633	.;.;TRBP2_HUMAN	M	45;24;45;24	ENSP00000266987:T45M;ENSP00000416077:T24M;ENSP00000377885:T24M	ENSP00000266987:T45M	T	+	2	0	TARBP2	52182146	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.295000	0.78780	2.197000	0.70478	0.467000	0.42956	ACG		0.597	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301	
HOXC13	3229	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	54333126	54333126	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:54333126G>A	ENST00000243056.3	+	1	592	c.436G>A	c.(436-438)Gcc>Acc	p.A146T	HOXC-AS5_ENST00000512916.2_RNA	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	146					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|hair follicle development (GO:0001942)|nail development (GO:0035878)|tongue morphogenesis (GO:0043587)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(1)|skin(1)	3						GAAGCCTTGCGCCTACCACCC	0.672			T	NUP98	AML																																	.		Dom	yes		12	12q13.3	3229	homeo box C13		L	0													13.0	14.0	14.0					12																	54333126		2194	4294	6488	SO:0001583	missense	3229				CCDS8865.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123364	ENSG00000123364		"""Homeoboxes / ANTP class : HOXL subclass"""	5125	protein-coding gene	gene with protein product		142976	"""homeo box C13"""	HOX3, HOX3G		1973146, 1358459	Standard	NM_017410		Approved		uc001sei.3	P31276	OTTHUMG00000160008	ENST00000243056.3:c.436G>A	12.37:g.54333126G>A	ENSP00000243056:p.Ala146Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q5BL02|Q96J32|Q9NR24|Q9NYD5	Missense_Mutation	SNP	ENST00000243056.3	37	CCDS8865.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768156	0.49680	.	.	ENSG00000123364	ENST00000243056	T	0.54071	0.59	2.87	0.899	0.19271	.	0.439557	0.22602	N	0.057946	T	0.36082	0.0954	L	0.34521	1.04	0.31154	N	0.705187	B	0.33238	0.403	B	0.28784	0.094	T	0.35992	-0.9766	10	0.46703	T	0.11	.	9.9089	0.41392	0.0:0.0:0.3313:0.6687	.	146	P31276	HXC13_HUMAN	T	146	ENSP00000243056:A146T	ENSP00000243056:A146T	A	+	1	0	HOXC13	52619393	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	1.192000	0.32150	0.241000	0.21283	0.313000	0.20887	GCC		0.672	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358865.2		
ITGA7	3679	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	56090778	56090778	+	Missense_Mutation	SNP	G	G	A	rs146411608		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:56090778G>A	ENST00000555728.1	-	13	1802	c.1774C>T	c.(1774-1776)Cgt>Tgt	p.R592C	ITGA7_ENST00000347027.6_Missense_Mutation_p.R542C|ITGA7_ENST00000394230.2_Missense_Mutation_p.R552C|ITGA7_ENST00000553804.1_Missense_Mutation_p.R552C|ITGA7_ENST00000394229.2_Missense_Mutation_p.R548C|ITGA7_ENST00000257880.7_Missense_Mutation_p.R592C|ITGA7_ENST00000257879.6_Missense_Mutation_p.R548C|ITGA7_ENST00000452168.2_Missense_Mutation_p.R455C			Q13683	ITA7_HUMAN	integrin, alpha 7	592					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCCAGGTTACGGCTCAGGAAC	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		17775	0.001		0.0	False		,,,				2504	0.0					.											0													71.0	62.0	65.0					12																	56090778		2203	4300	6503	SO:0001583	missense	3679				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1774C>T	12.37:g.56090778G>A	ENSP00000452387:p.Arg592Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	23.0	4.361745	0.82353	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.71698	-0.57;-0.57;-0.59;-0.11;-0.55;-0.55;-0.56;-0.55	4.41	4.41	0.53225	Integrin alpha-2 (1);	0.070371	0.56097	D	0.000023	T	0.81809	0.4901	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	0.993;0.995;0.984;1.0	P;P;P;D	0.72075	0.663;0.773;0.761;0.976	D	0.84193	0.0446	10	0.72032	D	0.01	.	14.8887	0.70590	0.0:0.0:1.0:0.0	.	455;592;552;611	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	C	552;548;542;455;592;552;548;592;592	ENSP00000452120:R552C;ENSP00000257879:R548C;ENSP00000343009:R542C;ENSP00000393844:R455C;ENSP00000257880:R592C;ENSP00000377777:R552C;ENSP00000377776:R548C;ENSP00000452387:R592C	ENSP00000257879:R548C	R	-	1	0	ITGA7	54377045	1.000000	0.71417	0.977000	0.42913	0.666000	0.39218	4.398000	0.59697	2.180000	0.69256	0.561000	0.74099	CGT		0.617	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206	
GDF11	10220	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	12	56142583	56142583	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:56142583G>A	ENST00000257868.5	+	2	696	c.659G>A	c.(658-660)cGt>cAt	p.R220H		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	220					camera-type eye morphogenesis (GO:0048593)|cell maturation (GO:0048469)|growth (GO:0040007)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|palate development (GO:0060021)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|spinal cord anterior/posterior patterning (GO:0021512)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)|protein complex (GO:0043234)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						CGTCACATCCGTATCCGCTCA	0.612																																						.											0													51.0	41.0	45.0					12																	56142583		2203	4300	6503	SO:0001583	missense	10220			AF100907	CCDS8891.1	12q13.13	2008-08-01							4216	protein-coding gene	gene with protein product		603936				15988002	Standard	NM_005811		Approved	BMP-11	uc001shq.3	O95390		ENST00000257868.5:c.659G>A	12.37:g.56142583G>A	ENSP00000257868:p.Arg220His	Somatic		WXS	Illumina HiSeq	Phase_I	Q9UID1|Q9UID2	Missense_Mutation	SNP	ENST00000257868.5	37	CCDS8891.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.67|16.67	3.187468|3.187468	0.57909|0.57909	.|.	.|.	ENSG00000135414|ENSG00000135414	ENST00000257868|ENST00000546799	T|.	0.65364|.	-0.15|.	4.75|4.75	4.75|4.75	0.60458|0.60458	Transforming growth factor-beta, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73690|0.73690	0.3619|0.3619	M|M	0.73217|0.73217	2.22|2.22	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.39282|.	0.666|.	B|.	0.42245|.	0.381|.	T|T	0.74318|0.74318	-0.3704|-0.3704	10|5	0.45353|.	T|.	0.12|.	-5.14|-5.14	15.6178|15.6178	0.76780|0.76780	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	220|.	O95390|.	GDF11_HUMAN|.	H|I	220|193	ENSP00000257868:R220H|.	ENSP00000257868:R220H|.	R|V	+|+	2|1	0|0	GDF11|GDF11	54428850|54428850	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.062000|8.062000	0.89475|0.89475	2.380000|2.380000	0.81148|0.81148	0.555000|0.555000	0.69702|0.69702	CGT|GTA		0.612	GDF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407842.3		
ERBB3	2065	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	56478809	56478809	+	Missense_Mutation	SNP	G	G	A	rs77228285		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:56478809G>A	ENST00000267101.3	+	3	705	c.265G>A	c.(265-267)Gtg>Atg	p.V89M	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000411731.2_Missense_Mutation_p.V89M|ERBB3_ENST00000415288.2_Missense_Mutation_p.V30M	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	89					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTATGTCCTCGTGGCCATGAA	0.483																																						.											0													168.0	140.0	149.0					12																	56478809		2203	4300	6503	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.265G>A	12.37:g.56478809G>A	ENSP00000267101:p.Val89Met	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.726333	0.69074	.	.	ENSG00000065361	ENST00000549282;ENST00000549061;ENST00000267101;ENST00000394099;ENST00000411731;ENST00000549672;ENST00000415288	D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	5.82	4.75	0.60458	EGF receptor, L domain (1);	0.125118	0.37577	N	0.002023	D	0.85461	0.5702	L	0.46819	1.47	0.80722	D	1	D;D	0.89917	0.981;1.0	P;D	0.67900	0.507;0.954	D	0.85354	0.1103	10	0.87932	D	0	.	7.8034	0.29187	0.217:0.0:0.783:0.0	.	89;89	P21860;P21860-2	ERBB3_HUMAN;.	M	89;30;89;89;89;30;30	ENSP00000448636:V89M;ENSP00000449138:V30M;ENSP00000267101:V89M;ENSP00000415753:V89M;ENSP00000449713:V30M;ENSP00000408340:V30M	ENSP00000267101:V89M	V	+	1	0	ERBB3	54765076	0.993000	0.37304	0.972000	0.41901	0.852000	0.48524	2.658000	0.46733	2.748000	0.94277	0.655000	0.94253	GTG		0.483	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3		
ANKRD52	283373	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	56648376	56648376	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:56648376G>A	ENST00000267116.7	-	7	800	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	227										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GCTCCCATCCGAAGCAGGTAC	0.567																																						.											0													41.0	42.0	41.0					12																	56648376		1982	4173	6155	SO:0001583	missense	283373			AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.679C>T	12.37:g.56648376G>A	ENSP00000267116:p.Arg227Trp	Somatic		WXS	Illumina HiSeq	Phase_I	A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808497	0.70797	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.65364	-0.15	4.85	4.85	0.62838	Ankyrin repeat-containing domain (4);	0.058570	0.64402	D	0.000005	T	0.74261	0.3693	M	0.73319	2.225	0.51482	D	0.99992	D	0.71674	0.998	D	0.64410	0.925	T	0.76515	-0.2931	10	0.87932	D	0	.	10.8398	0.46708	0.0:0.0:0.7084:0.2916	.	227	Q8NB46	ANR52_HUMAN	W	227	ENSP00000267116:R227W	ENSP00000267116:R227W	R	-	1	2	ANKRD52	54934643	0.011000	0.17503	1.000000	0.80357	0.989000	0.77384	1.099000	0.31013	2.688000	0.91661	0.655000	0.94253	CGG		0.567	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595	
VWF	7450	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	6078503	6078503	+	Nonsense_Mutation	SNP	G	G	A	rs61751296		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:6078503G>A	ENST00000261405.5	-	45	7857	c.7603C>T	c.(7603-7605)Cga>Tga	p.R2535*		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2535					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCCTTCACTCGGACACACTCA	0.607																																						.											0			GRCh37	CM910408	VWF	M	rs61751296	G	stop/ARG	0,4406		0,0,2203	59.0	59.0	59.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	7603	4.0	1.0	12	dbSNP_129	59	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	VWF	NM_000552.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2535/2814	6078503	1,13005	2203	4300	6503	SO:0001587	stop_gained	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7603C>T	12.37:g.6078503G>A	ENSP00000261405:p.Arg2535*	Somatic		WXS	Illumina HiSeq	Phase_I	Q8TCE8|Q99806	Nonsense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	50	16.762652	0.99871	0.0	1.16E-4	ENSG00000110799	ENST00000261405	.	.	.	4.87	3.96	0.45880	.	0.217378	0.23358	N	0.049054	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1546	0.54070	0.0:0.0:0.8279:0.1721	rs61751296	.	.	.	X	2535	.	ENSP00000261405:R2535X	R	-	1	2	VWF	5948764	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	2.597000	0.46214	1.234000	0.43709	0.561000	0.74099	CGA		0.607	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
SCNN1A	6337	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	12	6471284	6471284	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:6471284G>T	ENST00000228916.2	-	4	906	c.808C>A	c.(808-810)Ctg>Atg	p.L270M	SCNN1A_ENST00000540037.1_De_novo_Start_OutOfFrame|SCNN1A_ENST00000358945.3_Missense_Mutation_p.L270M|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000543768.1_Missense_Mutation_p.L293M|SCNN1A_ENST00000360168.3_Missense_Mutation_p.L329M|SCNN1A_ENST00000396966.2_Missense_Mutation_p.L270M	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	270					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	TCCTCCTCCAGGGATGGCAGA	0.592																																						.											0													126.0	104.0	112.0					12																	6471284		2203	4300	6503	SO:0001583	missense	6337			Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.808C>A	12.37:g.6471284G>T	ENSP00000228916:p.Leu270Met	Somatic		WXS	Illumina HiSeq	Phase_I	A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	37	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353258	0.24512	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000228916;ENST00000396966;ENST00000543768	T;T;T;T;T	0.70631	-0.45;-0.5;-0.43;-0.1;-0.43	5.05	3.19	0.36642	.	0.949950	0.08696	N	0.907143	T	0.79435	0.4445	M	0.70595	2.14	0.09310	N	1	D;D;P	0.56968	0.978;0.96;0.757	P;P;P	0.61003	0.878;0.882;0.511	T	0.61753	-0.6998	10	0.45353	T	0.12	-6.8226	6.8831	0.24185	0.0961:0.1769:0.727:0.0	.	293;270;329	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	M	329;270;270;270;293	ENSP00000353292:L329M;ENSP00000351825:L270M;ENSP00000228916:L270M;ENSP00000380166:L270M;ENSP00000438739:L293M	ENSP00000228916:L270M	L	-	1	2	SCNN1A	6341545	0.298000	0.24417	0.000000	0.03702	0.215000	0.24574	1.623000	0.37008	0.500000	0.27991	0.561000	0.74099	CTG		0.592	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1		
R3HDM2	22864	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	57693939	57693939	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:57693939C>T	ENST00000347140.3	-	5	623	c.233G>A	c.(232-234)cGt>cAt	p.R78H	R3HDM2_ENST00000403821.2_Missense_Mutation_p.R78H|R3HDM2_ENST00000402412.1_Missense_Mutation_p.R78H|R3HDM2_ENST00000358907.2_Missense_Mutation_p.R78H			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	78						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TGCCAGGCTACGCACCAACTT	0.403																																						.											0													59.0	51.0	53.0					12																	57693939		692	1591	2283	SO:0001583	missense	22864			AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.233G>A	12.37:g.57693939C>T	ENSP00000317903:p.Arg78His	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M1T9|Q3ZCT5	Missense_Mutation	SNP	ENST00000347140.3	37	CCDS8937.2	.	.	.	.	.	.	.	.	.	.	C	33	5.259207	0.95368	.	.	ENSG00000179912	ENST00000347140;ENST00000402412;ENST00000358907;ENST00000403821	T;T;T;T	0.58358	0.54;0.34;0.54;0.61	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.69780	0.3149	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.71813	-0.4479	10	0.87932	D	0	-8.834	17.6848	0.88254	0.0:1.0:0.0:0.0	.	78;78	B5MCU0;Q9Y2K5	.;R3HD2_HUMAN	H	78	ENSP00000317903:R78H;ENSP00000385839:R78H;ENSP00000351784:R78H;ENSP00000385169:R78H	ENSP00000317903:R78H	R	-	2	0	R3HDM2	55980206	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.567000	0.82357	2.785000	0.95823	0.591000	0.81541	CGT		0.403	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925	
LPCAT3	10162	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	12	7088722	7088722	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:7088722G>A	ENST00000261407.4	-	7	782	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	U47924.30_ENST00000606112.1_lincRNA|LPCAT3_ENST00000535021.1_5'UTR	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	233					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AGACTCAGGCGCTTGAGAGCA	0.512																																						.											0													104.0	86.0	92.0					12																	7088722		2203	4300	6503	SO:0001583	missense	10162			U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"""O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5"""	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.697C>T	12.37:g.7088722G>A	ENSP00000261407:p.Arg233Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	37	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638586	0.87760	.	.	ENSG00000111684	ENST00000261407	T	0.73897	-0.79	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.86785	0.6016	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87116	0.2188	10	0.62326	D	0.03	-14.3872	19.7096	0.96089	0.0:0.0:1.0:0.0	.	233	Q6P1A2	MBOA5_HUMAN	C	233	ENSP00000261407:R233C	ENSP00000261407:R233C	R	-	1	0	LPCAT3	6958983	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.678000	0.68153	2.652000	0.90054	0.655000	0.94253	CGC		0.512	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768	
DYRK2	8445	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	12	68052183	68052183	+	Missense_Mutation	SNP	C	C	T	rs138614034	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:68052183C>T	ENST00000344096.3	+	3	1909	c.1496C>T	c.(1495-1497)gCg>gTg	p.A499V	RP11-335O4.3_ENST00000425371.2_RNA|DYRK2_ENST00000393555.3_Missense_Mutation_p.A426V	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	499	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		TGGGGGAACGCGCTGAAGGGG	0.587																																						.											0								C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	58.0	62.0	60.0		1277,1496	5.2	1.0	12	dbSNP_134	60	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	DYRK2	NM_003583.3,NM_006482.2	64,64	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging,probably-damaging	426/529,499/602	68052183	4,13002	2203	4300	6503	SO:0001583	missense	8445			Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.1496C>T	12.37:g.68052183C>T	ENSP00000342105:p.Ala499Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2R9V9|Q9BRB5	Missense_Mutation	SNP	ENST00000344096.3	37	CCDS8978.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356088	0.41700	0.0	4.65E-4	ENSG00000127334	ENST00000344096;ENST00000393555	T;T	0.68025	-0.3;-0.28	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.64800	0.2631	N	0.12471	0.22	0.80722	D	1	D	0.64830	0.994	P	0.58013	0.831	T	0.63677	-0.6583	9	.	.	.	.	19.5702	0.95409	0.0:1.0:0.0:0.0	.	499	Q92630	DYRK2_HUMAN	V	499;426	ENSP00000342105:A499V;ENSP00000377186:A426V	.	A	+	2	0	DYRK2	66338450	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	7.776000	0.85560	2.800000	0.96347	0.455000	0.32223	GCG		0.587	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1		
OSBPL8	114882	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	76780412	76780412	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:76780412G>A	ENST00000261183.3	-	13	1860	c.1381C>T	c.(1381-1383)Cgt>Tgt	p.R461C	OSBPL8_ENST00000393249.2_Missense_Mutation_p.R419C|OSBPL8_ENST00000393250.4_Missense_Mutation_p.R419C	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	461					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TTCTTCAAACGGAAATAAGGA	0.274																																						.											0													60.0	66.0	64.0					12																	76780412		2202	4283	6485	SO:0001583	missense	114882			AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.1381C>T	12.37:g.76780412G>A	ENSP00000261183:p.Arg461Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	37	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	G	32	5.159090	0.94686	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.85182	0.5638	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89625	0.3851	10	0.87932	D	0	-12.342	19.8585	0.96775	0.0:0.0:1.0:0.0	.	436;461	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	C	419;461;446;419;461;461;436	ENSP00000376939:R419C;ENSP00000261183:R461C;ENSP00000376940:R419C;ENSP00000450238:R461C;ENSP00000447893:R436C	ENSP00000261183:R461C	R	-	1	0	OSBPL8	75304543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.021000	0.70832	2.760000	0.94817	0.655000	0.94253	CGT		0.274	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841	
SLC2A3	6515	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	12	8083895	8083895	+	Silent	SNP	A	A	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:8083895A>T	ENST00000075120.7	-	4	696	c.456T>A	c.(454-456)ggT>ggA	p.G152G		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	152					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TGCCAAAGGCACCCCGCAGGG	0.522																																					Colon(96;424 1461 14416 20933 23688)	.											0													80.0	76.0	77.0					12																	8083895		2203	4300	6503	SO:0001819	synonymous_variant	6515			M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.456T>A	12.37:g.8083895A>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2R606|D3DUU6|Q6I9U2|Q9UG15	Silent	SNP	ENST00000075120.7	37	CCDS8586.1																																																																																				0.522	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931	
AICDA	57379	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	8757413	8757413	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:8757413C>T	ENST00000229335.6	-	4	636	c.533G>A	c.(532-534)cGc>cAc	p.R178H	AICDA_ENST00000537228.1_Missense_Mutation_p.R168H	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	178					B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					CAAAAGGATGCGCCGAAGCTG	0.378																																					GBM(62;896 1067 5527 26594 30137)	.											0													116.0	113.0	114.0					12																	8757413		1809	4078	5887	SO:0001583	missense	57379			AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"""Apolipoprotein B mRNA editing enzymes"""	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.533G>A	12.37:g.8757413C>T	ENSP00000229335:p.Arg178His	Somatic		WXS	Illumina HiSeq	Phase_I	Q6QJ81|Q8NFC1	Missense_Mutation	SNP	ENST00000229335.6	37	CCDS41747.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.174200|4.174200	0.78452|0.78452	.|.	.|.	ENSG00000111732|ENSG00000111732	ENST00000545512|ENST00000229335;ENST00000537228	.|T;T	.|0.64085	.|-0.08;-0.08	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.161178	.|0.56097	.|D	.|0.000025	T|T	0.78984|0.78984	0.4370|0.4370	M|M	0.78456|0.78456	2.415|2.415	0.58432|0.58432	D|D	0.999992|0.999992	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.70935	.|0.971;0.958	T|T	0.80786|0.80786	-0.1227|-0.1227	5|10	.|0.59425	.|D	.|0.04	-21.6348|-21.6348	15.9806|15.9806	0.80105|0.80105	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|178;168	.|Q9GZX7;Q6QJ81	.|AICDA_HUMAN;.	T|H	177|178;168	.|ENSP00000229335:R178H;ENSP00000445691:R168H	.|ENSP00000229335:R178H	A|R	-|-	1|2	0|0	AICDA|AICDA	8648680|8648680	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	5.700000|5.700000	0.68318|0.68318	2.546000|2.546000	0.85860|0.85860	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.378	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661	
RIMKLB	57494	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	8902463	8902463	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:8902463C>T	ENST00000538135.1	+	3	1006	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	RIMKLB_ENST00000535829.1_Missense_Mutation_p.R61W|RIMKLB_ENST00000357529.3_Missense_Mutation_p.R61W|RIMKLB_ENST00000299673.5_3'UTR			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	61					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTCAGGTCTGCGGATCAATGG	0.408																																						.											0													34.0	32.0	33.0					12																	8902463		1872	4104	5976	SO:0001583	missense	57494			AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"""N-acetylaspartyl-glutamate synthetase"""	614054	"""family with sequence similarity 80, member B"""	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.181C>T	12.37:g.8902463C>T	ENSP00000440943:p.Arg61Trp	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	ENST00000538135.1	37	CCDS41748.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112773	0.77210	.	.	ENSG00000166532	ENST00000541044;ENST00000539923;ENST00000537189;ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	5.47	5.47	0.80525	.	0.092366	0.45606	U	0.000341	T	0.67674	0.2918	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.59221	0.854;0.732	T	0.68481	-0.5397	9	0.54805	T	0.06	.	17.8968	0.88891	0.0:1.0:0.0:0.0	.	61;61	Q9ULI2-2;Q9ULI2	.;RIMKB_HUMAN	W	61;61;122;61;61;61	.	ENSP00000350136:R61W	R	+	1	2	RIMKLB	8793730	1.000000	0.71417	0.953000	0.39169	0.434000	0.31775	7.392000	0.79840	2.571000	0.86741	0.591000	0.81541	CGG		0.408	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734	
ZDHHC17	23390	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	77222268	77222268	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:77222268A>G	ENST00000426126.2	+	10	1788	c.1139A>G	c.(1138-1140)aAt>aGt	p.N380S	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.N380S	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	380					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TGGTTTTGGAATGATATCCTT	0.328																																						.											0													266.0	251.0	255.0					12																	77222268		1827	4076	5903	SO:0001583	missense	23390			AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.1139A>G	12.37:g.77222268A>G	ENSP00000403397:p.Asn380Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	ENST00000426126.2	37	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	A	13.87	2.367365	0.41902	.	.	ENSG00000186908	ENST00000426126;ENST00000334822	T;T	0.31769	1.48;1.48	5.72	5.72	0.89469	.	6.143080	0.00919	N	0.002577	T	0.21841	0.0526	N	0.03608	-0.345	0.80722	D	1	B	0.22414	0.069	B	0.18263	0.021	T	0.03453	-1.1035	10	0.25751	T	0.34	16.3248	16.0023	0.80306	1.0:0.0:0.0:0.0	.	380	Q8IUH5	ZDH17_HUMAN	S	380	ENSP00000403397:N380S;ENSP00000334868:N380S	ENSP00000334868:N380S	N	+	2	0	ZDHHC17	75746399	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.269000	0.78482	2.177000	0.69029	0.533000	0.62120	AAT		0.328	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336	
ATP2B1	490	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	12	89992451	89992451	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:89992451C>T	ENST00000359142.3	-	20	3645	c.3421G>A	c.(3421-3423)Gcc>Acc	p.A1141T	ATP2B1_ENST00000393164.2_Intron|ATP2B1_ENST00000428670.3_Intron|ATP2B1_ENST00000348959.3_Intron|ATP2B1_ENST00000261173.2_Intron	NM_001001323.1	NP_001001323.1	P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1141					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TGCTGGCTGGCGATGGAGGGT	0.478																																						.											0													200.0	199.0	199.0					12																	89992451		1985	4168	6153	SO:0001583	missense	490			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000359142.3:c.3421G>A	12.37:g.89992451C>T	ENSP00000352054:p.Ala1141Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000359142.3	37	CCDS41817.1	.	.	.	.	.	.	.	.	.	.	C	6.580	0.475408	0.12521	.	.	ENSG00000070961	ENST00000359142	T	0.78481	-1.18	5.77	5.77	0.91146	.	.	.	.	.	T	0.53334	0.1790	N	0.01729	-0.75	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.58629	-0.7603	9	0.02654	T	1	.	19.9855	0.97347	0.0:1.0:0.0:0.0	.	1141	P20020-2	.	T	1141	ENSP00000352054:A1141T	ENSP00000352054:A1141T	A	-	1	0	ATP2B1	88516582	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.028000	0.64115	2.715000	0.92844	0.655000	0.94253	GCC		0.478	ATP2B1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406652.1	NM_001682	
VEZT	55591	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	12	95694384	95694384	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:95694384A>G	ENST00000436874.1	+	12	2380	c.2275A>G	c.(2275-2277)Act>Gct	p.T759A	VEZT_ENST00000261219.6_Missense_Mutation_p.T711A|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	759					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)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GCAGGAACAGACTTTTGGTGG	0.413																																						.											0													48.0	45.0	46.0					12																	95694384		1875	4107	5982	SO:0001583	missense	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.2275A>G	12.37:g.95694384A>G	ENSP00000410083:p.Thr759Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.825883	0.50739	.	.	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397792;ENST00000397796	T;T;T	0.31769	1.48;1.48;1.49	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.54743	0.1877	M	0.66939	2.045	0.54753	D	0.999984	D	0.76494	0.999	D	0.78314	0.991	T	0.57808	-0.7747	10	0.72032	D	0.01	-16.7085	15.8862	0.79251	1.0:0.0:0.0:0.0	.	759	Q9HBM0	VEZA_HUMAN	A	759;711;715;759	ENSP00000410083:T759A;ENSP00000261219:T711A;ENSP00000380894:T715A	ENSP00000261219:T711A	T	+	1	0	VEZT	94218515	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.704000	0.84595	2.150000	0.67090	0.528000	0.53228	ACT		0.413	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599	
ATP11A	23250	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	13	113530121	113530121	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:113530121G>A	ENST00000487903.1	+	28	3281	c.3193G>A	c.(3193-3195)Gtg>Atg	p.V1065M	ATP11A_ENST00000283558.8_Missense_Mutation_p.V1065M|ATP11A_ENST00000375630.2_Missense_Mutation_p.V1065M|ATP11A_ENST00000375645.3_Missense_Mutation_p.V1065M			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1065					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GATGTACTACGTGTTCATCCA	0.617																																						.											0													87.0	81.0	83.0					13																	113530121		2203	4300	6503	SO:0001583	missense	23250			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.3193G>A	13.37:g.113530121G>A	ENSP00000420387:p.Val1065Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529398	0.64860	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558;ENST00000419631	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.71256	0.3318	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.65140	0.932;0.932	T	0.74450	-0.3661	10	0.51188	T	0.08	.	17.8446	0.88725	0.0:0.0:1.0:0.0	.	1065;1065	E9PEJ6;P98196	.;AT11A_HUMAN	M	1065;1065;1065;1065;57	ENSP00000420387:V1065M;ENSP00000364781:V1065M;ENSP00000364796:V1065M;ENSP00000283558:V1065M;ENSP00000410824:V57M	ENSP00000283558:V1065M	V	+	1	0	ATP11A	112578122	1.000000	0.71417	0.985000	0.45067	0.068000	0.16541	8.990000	0.93510	2.198000	0.70561	0.561000	0.74099	GTG		0.617	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205	
RASA3	22821	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	13	114780772	114780772	+	Missense_Mutation	SNP	C	C	T	rs370539205		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:114780772C>T	ENST00000334062.7	-	14	1439	c.1318G>A	c.(1318-1320)Gcc>Acc	p.A440T	RASA3_ENST00000389544.4_Missense_Mutation_p.A408T	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	440	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TCAGTGATGGCGTGGAAGACG	0.647																																						.											0								C	THR/ALA	0,4406		0,0,2203	117.0	100.0	106.0		1318	3.3	0.0	13		106	1,8599	1.2+/-3.3	0,1,4299	no	missense	RASA3	NM_007368.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	440/835	114780772	1,13005	2203	4300	6503	SO:0001583	missense	22821				CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.1318G>A	13.37:g.114780772C>T	ENSP00000335029:p.Ala440Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	ENST00000334062.7	37	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720226	0.30503	0.0	1.16E-4	ENSG00000185989	ENST00000334062;ENST00000389544	T;T	0.80214	-1.35;-1.35	5.07	3.34	0.38264	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.267542	0.35936	N	0.002897	T	0.70535	0.3235	L	0.34521	1.04	0.80722	D	1	B	0.09022	0.002	B	0.28784	0.094	T	0.59016	-0.7533	9	.	.	.	.	10.2263	0.43227	0.0:0.834:0.0:0.166	.	440	Q14644	RASA3_HUMAN	T	440;408	ENSP00000335029:A440T;ENSP00000374195:A408T	.	A	-	1	0	RASA3	113798874	0.991000	0.36638	0.002000	0.10522	0.010000	0.07245	2.982000	0.49337	0.526000	0.28541	0.591000	0.81541	GCC		0.647	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368	
SERINC2	347735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	31899552	31899552	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:31899552C>T	ENST00000373709.3	+	6	812	c.662C>T	c.(661-663)gCg>gTg	p.A221V	SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000373710.1_Missense_Mutation_p.A230V|SERINC2_ENST00000536859.1_Missense_Mutation_p.A225V|SERINC2_ENST00000536384.1_Missense_Mutation_p.A225V	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	221					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		GCGGCCGTGGCGCTGATGTTC	0.597																																						.											0													209.0	183.0	192.0					1																	31899552		2203	4300	6503	SO:0001583	missense	347735			AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"""tumor differentially expressed 2-like"""	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.662C>T	1.37:g.31899552C>T	ENSP00000362813:p.Ala221Val	Somatic		WXS	Illumina HiSeq	Phase_I	A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Missense_Mutation	SNP	ENST00000373709.3	37	CCDS30662.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.741064	0.00675	.	.	ENSG00000168528	ENST00000373710;ENST00000536859;ENST00000373709;ENST00000536384	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	4.99	-0.359	0.12571	.	0.733403	0.13725	N	0.367136	T	0.04182	0.0116	N	0.04805	-0.155	0.09310	N	1	B;B;B	0.14012	0.0;0.004;0.009	B;B;B	0.09377	0.0;0.004;0.003	T	0.43376	-0.9395	10	0.02654	T	1	-1.0421	11.9824	0.53127	0.0:0.5352:0.0:0.4648	.	225;230;221	B4DJK5;E7EUZ9;Q96SA4	.;.;SERC2_HUMAN	V	230;225;221;225	ENSP00000362814:A230V;ENSP00000444307:A225V;ENSP00000362813:A221V;ENSP00000439048:A225V	ENSP00000362813:A221V	A	+	2	0	SERINC2	31672139	0.009000	0.17119	0.000000	0.03702	0.247000	0.25773	0.477000	0.22196	-0.468000	0.06922	-1.267000	0.01435	GCG		0.597	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010680.1	NM_018565	
CCDC28B	79140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	32667610	32667610	+	Missense_Mutation	SNP	G	G	A	rs371310338		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:32667610G>A	ENST00000373602.5	+	2	421	c.74G>A	c.(73-75)cGg>cAg	p.R25Q	CCDC28B_ENST00000421922.2_Missense_Mutation_p.R25Q|RP4-622L5.7_ENST00000373604.4_RNA|CCDC28B_ENST00000483009.1_3'UTR	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	25			R -> W (in dbSNP:rs1407134).		cilium assembly (GO:0042384)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GGCACACTACGGAGGGTCCCT	0.637																																						.											0								G	GLN/ARG	0,4406		0,0,2203	43.0	51.0	49.0		74	5.4	0.8	1		49	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC28B	NM_024296.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	25/201	32667610	1,13005	2203	4300	6503	SO:0001583	missense	79140			BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050			28163	protein-coding gene	gene with protein product		610162				16327777	Standard	XM_006710892		Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000373602.5:c.74G>A	1.37:g.32667610G>A	ENSP00000362704:p.Arg25Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A8K789|Q8TBV8	Missense_Mutation	SNP	ENST00000373602.5	37	CCDS354.2	.	.	.	.	.	.	.	.	.	.	G	34	5.322060	0.95708	0.0	1.16E-4	ENSG00000160050	ENST00000373602;ENST00000421922	T;T	0.54866	0.64;0.55	5.39	5.39	0.77823	.	0.115026	0.64402	D	0.000020	T	0.58047	0.2095	L	0.55481	1.735	0.40176	D	0.97723	D;D	0.76494	0.96;0.999	B;P	0.56751	0.238;0.805	T	0.58411	-0.7641	10	0.40728	T	0.16	-1.0299	8.1332	0.31039	0.084:0.1605:0.7555:0.0	.	25;25	Q9BUN5;E9PM81	CC28B_HUMAN;.	Q	25	ENSP00000362704:R25Q;ENSP00000413017:R25Q	ENSP00000362704:R25Q	R	+	2	0	CCDC28B	32440197	1.000000	0.71417	0.838000	0.33150	0.981000	0.71138	6.802000	0.75175	2.704000	0.92352	0.655000	0.94253	CGG		0.637	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015723.4	NM_024296	
NBEA	26960	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	13	35733452	35733452	+	Silent	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:35733452A>G	ENST00000400445.3	+	22	3678	c.3144A>G	c.(3142-3144)gtA>gtG	p.V1048V	NBEA_ENST00000540320.1_Silent_p.V1048V|NBEA_ENST00000379939.2_Silent_p.V1048V|NBEA_ENST00000310336.4_Silent_p.V1048V	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1048					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GAAGTGGTGTACATGTGGAAG	0.393																																						.											0													91.0	87.0	88.0					13																	35733452		1895	4128	6023	SO:0001819	synonymous_variant	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.3144A>G	13.37:g.35733452A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	CCDS45026.1																																																																																				0.393	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
WBP4	11193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	13	41657033	41657033	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:41657033C>T	ENST00000379487.3	+	10	1514	c.1114C>T	c.(1114-1116)Cga>Tga	p.R372*	WBP4_ENST00000542082.1_Nonsense_Mutation_p.R351*	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	372					mRNA cis splicing, via spliceosome (GO:0045292)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	nucleic acid binding (GO:0003676)|proline-rich region binding (GO:0070064)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		TTTAAGGCAACGAGGTGATGA	0.378																																						.											0													58.0	56.0	57.0					13																	41657033		2203	4300	6503	SO:0001587	stop_gained	11193			AF071185	CCDS9375.1	13q13.3	2012-10-17	2012-10-17		ENSG00000120688	ENSG00000120688			12739	protein-coding gene	gene with protein product	"""formin binding protein 21"""	604981				9724750	Standard	NM_007187		Approved	FBP21, MGC117310	uc001uxt.3	O75554	OTTHUMG00000016784	ENST00000379487.3:c.1114C>T	13.37:g.41657033C>T	ENSP00000368801:p.Arg372*	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z4M2|Q32P29	Nonsense_Mutation	SNP	ENST00000379487.3	37	CCDS9375.1	.	.	.	.	.	.	.	.	.	.	C	39	7.700010	0.98441	.	.	ENSG00000120688	ENST00000379487;ENST00000542082	.	.	.	6.07	4.14	0.48551	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.43841	D	0.996429	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.4043	11.7567	0.51880	0.4966:0.5034:0.0:0.0	.	.	.	.	X	372;351	.	ENSP00000368801:R372X	R	+	1	2	WBP4	40555033	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.583000	0.53928	1.534000	0.49203	0.655000	0.94253	CGA		0.378	WBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044655.2	NM_007187	
SPERT	220082	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	13	46287927	46287927	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:46287927C>T	ENST00000310521.1	+	3	847	c.767C>T	c.(766-768)gCg>gTg	p.A256V	SPERT_ENST00000378966.3_Missense_Mutation_p.A220V	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	256						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GAGAATCGCGCGCTGCAGCAG	0.692																																						.											0													19.0	17.0	18.0					13																	46287927		2187	4290	6477	SO:0001583	missense	220082			AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.767C>T	13.37:g.46287927C>T	ENSP00000309189:p.Ala256Val	Somatic		WXS	Illumina HiSeq	Phase_I	A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592367	0.46214	.	.	ENSG00000174015	ENST00000310521;ENST00000378966	T;T	0.51071	0.74;0.72	5.27	5.27	0.74061	.	0.099939	0.44483	D	0.000442	T	0.34193	0.0889	L	0.32530	0.975	0.28594	N	0.909472	P;P	0.43352	0.804;0.531	B;B	0.38156	0.266;0.178	T	0.34825	-0.9813	10	0.40728	T	0.16	.	9.7621	0.40539	0.0:0.9087:0.0:0.0913	.	220;256	Q8NA61-2;Q8NA61	.;SPERT_HUMAN	V	256;220	ENSP00000309189:A256V;ENSP00000368249:A220V	ENSP00000309189:A256V	A	+	2	0	SPERT	45185928	0.113000	0.22115	0.988000	0.46212	0.856000	0.48823	2.116000	0.41930	2.735000	0.93741	0.655000	0.94253	GCG		0.692	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719	
RB1	5925	broad.mit.edu;hgsc.bcm.edu	37	13	49033915	49033915	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:49033915delC	ENST00000267163.4	+	20	2190	c.2052delC	c.(2050-2052)ttcfs	p.F684fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	684	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GGACCCTTTTCCAGCACACCC	0.458		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												.	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	26	Whole gene deletion(15)|Unknown(11)	bone(10)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)											97.0	91.0	93.0					13																	49033915		2203	4300	6503	SO:0001589	frameshift_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2052delC	13.37:g.49033915delC	ENSP00000267163:p.Phe684fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	CCDS31973.1																																																																																				0.458	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
DIS3	22894	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	13	73348179	73348179	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:73348179C>T	ENST00000377767.4	-	7	1106	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	DIS3_ENST00000377780.4_Missense_Mutation_p.E306K|DIS3_ENST00000545453.1_Missense_Mutation_p.E174K	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	336					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		AACATTTTCTCGCTTACAGCA	0.343										Multiple Myeloma(4;0.011)																												.											0													97.0	97.0	97.0					13																	73348179		2202	4300	6502	SO:0001583	missense	22894			AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1006G>A	13.37:g.73348179C>T	ENSP00000366997:p.Glu336Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141048	0.37825	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.40476	1.03;1.03;1.03	5.8	5.8	0.92144	.	0.528815	0.22419	N	0.060314	T	0.23210	0.0561	N	0.16307	0.4	0.34150	D	0.667477	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.27571	-1.0070	10	0.08837	T	0.75	.	9.0011	0.36083	0.0:0.8765:0.0:0.1235	.	306;336	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	K	336;306;174	ENSP00000366997:E336K;ENSP00000367011:E306K;ENSP00000440058:E174K	ENSP00000366997:E336K	E	-	1	0	DIS3	72246180	0.999000	0.42202	0.900000	0.35374	0.851000	0.48451	4.910000	0.63321	2.737000	0.93849	0.563000	0.77884	GAG		0.343	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953	
C1orf174	339448	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	3807424	3807424	+	Silent	SNP	G	G	A	rs368113639		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:3807424G>A	ENST00000361605.3	-	3	425	c.327C>T	c.(325-327)ggC>ggT	p.G109G	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	109						nucleus (GO:0005634)				endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		GCACAGAAACGCCAGCCTCGC	0.542																																						.											0								G		0,4406		0,0,2203	58.0	56.0	57.0		327	-11.1	0.0	1		57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C1orf174	NM_207356.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		109/244	3807424	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	339448			BC035643	CCDS53.1	1p36.32	2012-07-25			ENSG00000198912	ENSG00000198912			27915	protein-coding gene	gene with protein product						12477932	Standard	NM_207356		Approved	RP13-531C17.2	uc001alf.3	Q8IYL3	OTTHUMG00000003739	ENST00000361605.3:c.327C>T	1.37:g.3807424G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K0C8|A8MUG9|Q5SR20|Q6NX36	Silent	SNP	ENST00000361605.3	37	CCDS53.1																																																																																				0.542	C1orf174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010539.1	NM_207356	
EPHA10	284656	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	38227629	38227629	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:38227629G>A	ENST00000373048.4	-	3	297	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	EPHA10_ENST00000319637.6_Missense_Mutation_p.R100C|EPHA10_ENST00000427468.2_Missense_Mutation_p.R100C	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	100	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACGAAGATGCGCTGCCCGCGG	0.607																																						.											0													91.0	85.0	87.0					1																	38227629		2203	4300	6503	SO:0001583	missense	284656			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.298C>T	1.37:g.38227629G>A	ENSP00000362139:p.Arg100Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863579	0.71949	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.06768	3.26;3.26;3.26	4.47	3.47	0.39725	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.40728	N	0.001040	T	0.34919	0.0914	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.43766	-0.9371	10	0.87932	D	0	.	13.4895	0.61386	0.0:0.0:0.7792:0.2208	.	100;100	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	C	100	ENSP00000397746:R100C;ENSP00000362139:R100C;ENSP00000316395:R100C	ENSP00000316395:R100C	R	-	1	0	EPHA10	38000216	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	0.937000	0.28951	2.448000	0.82819	0.549000	0.68633	CGC		0.607	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641	
INPP5B	3633	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	38345781	38345781	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:38345781G>A	ENST00000373026.1	-	14	1757	c.1757C>T	c.(1756-1758)aCg>aTg	p.T586M	INPP5B_ENST00000458109.2_3'UTR|INPP5B_ENST00000373024.3_Missense_Mutation_p.T506M|INPP5B_ENST00000373027.1_Missense_Mutation_p.T342M|INPP5B_ENST00000373023.2_Missense_Mutation_p.T586M			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	586	5-phosphatase. {ECO:0000250}.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTCAGAGCCCGTATCATACTT	0.483																																						.											0													109.0	105.0	106.0					1																	38345781		1855	4100	5955	SO:0001583	missense	3633			M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.1757C>T	1.37:g.38345781G>A	ENSP00000362117:p.Thr586Met	Somatic		WXS	Illumina HiSeq	Phase_I	C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37		.	.	.	.	.	.	.	.	.	.	G	29.6	5.019861	0.93462	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024	T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38	5.83	5.83	0.93111	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.093070	0.85682	D	0.000000	D	0.86087	0.5849	L	0.41356	1.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.68353	0.957;0.842	D	0.84515	0.0624	10	0.41790	T	0.15	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	586;506	P32019;P32019-2	I5P2_HUMAN;.	M	342;586;586;586;506	ENSP00000362118:T342M;ENSP00000362114:T586M;ENSP00000362117:T586M;ENSP00000362115:T506M	ENSP00000362114:T586M	T	-	2	0	INPP5B	38118368	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	9.637000	0.98443	2.769000	0.95229	0.655000	0.94253	ACG		0.483	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540	
HS6ST3	266722	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	13	97484970	97484970	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:97484970C>T	ENST00000376705.2	+	2	958	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	312					heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)	integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TCGCCAGGTGCGCATGCTGGC	0.527																																						.											0													77.0	72.0	74.0					13																	97484970		2203	4300	6503	SO:0001583	missense	266722			AF539426	CCDS9481.1	13q32.2	2007-12-04			ENSG00000185352	ENSG00000185352		"""Sulfotransferases, membrane-bound"""	19134	protein-coding gene	gene with protein product		609401					Standard	NM_153456		Approved		uc001vmw.4	Q8IZP7	OTTHUMG00000017232	ENST00000376705.2:c.934C>T	13.37:g.97484970C>T	ENSP00000365895:p.Arg312Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q5W0L0|Q68CW6	Missense_Mutation	SNP	ENST00000376705.2	37	CCDS9481.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788595	0.90367	.	.	ENSG00000185352	ENST00000376705	T	0.42131	0.98	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.73063	0.3539	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78532	-0.2168	10	0.87932	D	0	-28.732	19.7149	0.96113	0.0:1.0:0.0:0.0	.	312	Q8IZP7	H6ST3_HUMAN	C	312	ENSP00000365895:R312C	ENSP00000365895:R312C	R	+	1	0	HS6ST3	96282971	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.814000	0.86154	2.648000	0.89879	0.650000	0.86243	CGC		0.527	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045517.2	NM_153456	
MACF1	23499	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	39951259	39951259	+	Silent	SNP	C	C	T	rs201356281		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:39951259C>T	ENST00000372915.3	+	97	22047	c.21960C>T	c.(21958-21960)gcC>gcT	p.A7320A	MACF1_ENST00000567887.1_Silent_p.A7524A|MACF1_ENST00000317713.7_Silent_p.A5362A|MACF1_ENST00000289893.4_Silent_p.A5870A|MACF1_ENST00000564288.1_Silent_p.A7487A|MACF1_ENST00000539005.1_Silent_p.A5232A|MACF1_ENST00000545844.1_Silent_p.A5362A|MACF1_ENST00000361689.2_Silent_p.A5362A			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7320	4 X 4 AA tandem repeats of [GS]-S-R-[AR].|C-terminal tail. {ECO:0000250}.|Ser-rich.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ggagtcgagccgggagtcgag	0.552																																						.											0													38.0	44.0	42.0					1																	39951259		2203	4300	6503	SO:0001819	synonymous_variant	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21960C>T	1.37:g.39951259C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.254|4.254	0.046072|0.046072	0.08243|0.08243	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000360115;ENST00000442046|ENST00000372925;ENST00000446276	.|.	.|.	.|.	5.28|5.28	-5.68|-5.68	0.02436|0.02436	.|.	.|.	.|.	.|.	.|.	T|T	0.38532|0.38532	0.1044|0.1044	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.39643|0.39643	-0.9604|-0.9604	4|4	.|.	.|.	.|.	.|.	3.3677|3.3677	0.07210|0.07210	0.093:0.2728:0.1651:0.4691|0.093:0.2728:0.1651:0.4691	.|.	.|.	.|.	.|.	L|W	475;300|4366;387	.|.	.|.	P|R	+|+	2|1	0|2	MACF1|MACF1	39723846|39723846	0.000000|0.000000	0.05858|0.05858	0.842000|0.842000	0.33263|0.33263	0.980000|0.980000	0.70556|0.70556	-4.901000|-4.901000	0.00172|0.00172	-0.904000|-0.904000	0.03876|0.03876	-0.786000|-0.786000	0.03341|0.03341	CCG|CGG		0.552	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
NT5C1A	84618	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	40125029	40125029	+	Missense_Mutation	SNP	G	G	A	rs539519081		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:40125029G>A	ENST00000235628.1	-	6	870	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	291					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTGAGAGCCCGGGCCCCGGAA	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		17606	0.0		0.0	False		,,,				2504	0.001					.											0													47.0	57.0	54.0					1																	40125029		2203	4300	6503	SO:0001583	missense	84618			AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"""cytosolic 5' nucleotidase, type 1A"", ""AMP-specific 5'-NT"", ""cytosolic 5'-nucleotidase IA"""	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.871C>T	1.37:g.40125029G>A	ENSP00000235628:p.Arg291Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q3SYB9|Q5TG98|Q9BWT8	Missense_Mutation	SNP	ENST00000235628.1	37	CCDS440.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764523	0.89932	.	.	ENSG00000116981	ENST00000235628	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.89750	0.6805	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92744	0.6210	9	0.87932	D	0	-0.3811	19.2474	0.93908	0.0:0.0:1.0:0.0	.	291	Q9BXI3	5NT1A_HUMAN	W	291	.	ENSP00000235628:R291W	R	-	1	2	NT5C1A	39897616	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.641000	0.74324	2.624000	0.88883	0.655000	0.94253	CGG		0.612	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025626.1	NM_032526	
HHIPL1	84439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	14	100141822	100141822	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:100141822G>A	ENST00000330710.5	+	9	2306	c.2208G>A	c.(2206-2208)ctG>ctA	p.L736L		NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	736	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GCGGCTCGCTGCCCATTCTGC	0.697																																						.											0													9.0	13.0	12.0					14																	100141822		688	1582	2270	SO:0001819	synonymous_variant	84439			AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.2208G>A	14.37:g.100141822G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A2RUF8|B2RN09|Q6UXX2	Silent	SNP	ENST00000330710.5	37	CCDS45162.1																																																																																				0.697	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566	
RTL1	388015	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	14	101350657	101350657	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:101350657C>T	ENST00000534062.1	-	1	527	c.469G>A	c.(469-471)Gag>Aag	p.E157K	MIR136_ENST00000385207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	157					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GTTGAGTGCTCGGTCTGGTTT	0.522																																						.											0													268.0	231.0	242.0					14																	101350657		692	1591	2283	SO:0001583	missense	388015				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.469G>A	14.37:g.101350657C>T	ENSP00000435342:p.Glu157Lys	Somatic		WXS	Illumina HiSeq	Phase_I	E9PKS8	Missense_Mutation	SNP	ENST00000534062.1	37	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	C	5.423	0.263163	0.10294	.	.	ENSG00000254656	ENST00000534062	T	0.21734	1.99	2.2	0.156	0.14910	.	.	.	.	.	T	0.07503	0.0189	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.40327	-0.9569	9	0.07175	T	0.84	.	4.2224	0.10565	0.0:0.5895:0.0:0.4105	.	157	E9PKS8	.	K	157	ENSP00000435342:E157K	ENSP00000435342:E157K	E	-	1	0	RTL1	100420410	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.172000	0.09868	0.018000	0.15052	0.555000	0.69702	GAG		0.522	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888	
ZNF839	55778	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	102807759	102807759	+	Missense_Mutation	SNP	C	C	T	rs544983444	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:102807759C>T	ENST00000558850.1	+	8	2029	c.1679C>T	c.(1678-1680)cCg>cTg	p.P560L	ZNF839_ENST00000559185.1_Missense_Mutation_p.P560L|AL137229.1_ENST00000577622.1_RNA|ZNF839_ENST00000262236.5_Missense_Mutation_p.P562L|ZNF839_ENST00000442396.2_Missense_Mutation_p.P676L|ZNF839_ENST00000420933.2_3'UTR	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	560							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGGCGGGCCCGCAGCTTCAG	0.557													C|||	3	0.000599042	0.0	0.0	5008	,	,		16604	0.0		0.0	False		,,,				2504	0.0031					.											0													61.0	62.0	62.0					14																	102807759		1970	4167	6137	SO:0001583	missense	55778			AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.1679C>T	14.37:g.102807759C>T	ENSP00000453363:p.Pro560Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	37	CCDS58336.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444871	0.25987	.	.	ENSG00000022976	ENST00000442396;ENST00000262236;ENST00000398436;ENST00000420933	T;T	0.16897	2.31;2.31	4.56	-4.45	0.03546	.	2.076230	0.02062	N	0.050829	T	0.07052	0.0179	N	0.04636	-0.2	0.09310	N	1	B;B;B	0.31077	0.307;0.134;0.134	B;B;B	0.24394	0.053;0.023;0.031	T	0.18967	-1.0320	10	0.45353	T	0.12	.	5.4007	0.16295	0.3927:0.2829:0.3244:0.0	.	676;562;560	A8K0R7-5;A8K0R7-2;A8K0R7	.;.;ZN839_HUMAN	L	676;562;228;94	ENSP00000399863:P676L;ENSP00000262236:P562L	ENSP00000262236:P562L	P	+	2	0	ZNF839	101877512	0.000000	0.05858	0.003000	0.11579	0.068000	0.16541	-0.134000	0.10436	-1.147000	0.02851	-0.578000	0.04140	CCG		0.557	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335	
EXOC3L4	91828	hgsc.bcm.edu	37	14	103568933	103568933	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:103568933G>A	ENST00000380069.3	+	2	949	c.873G>A	c.(871-873)caG>caA	p.Q291Q		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	291					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GCGACCTGCAGAAGGTGCGGC	0.746																																						.											0													4.0	7.0	6.0					14																	103568933		1955	3925	5880	SO:0001819	synonymous_variant	91828			AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 73"""	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.873G>A	14.37:g.103568933G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q14CR2	Silent	SNP	ENST00000380069.3	37	CCDS32163.1																																																																																				0.746	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093	
TDRD9	122402	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	104431775	104431775	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:104431775C>T	ENST00000409874.4	+	4	574	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C	TDRD9_ENST00000339063.5_Missense_Mutation_p.R176C|TDRD9_ENST00000554571.1_3'UTR	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	176	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CTACGTTCAGCGCTCCGCCTA	0.562																																						.											0													81.0	77.0	78.0					14																	104431775		692	1591	2283	SO:0001583	missense	122402			AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.526C>T	14.37:g.104431775C>T	ENSP00000387303:p.Arg176Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	CCDS9987.2	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804306	0.50315	.	.	ENSG00000156414	ENST00000409874;ENST00000339063	T;T	0.15487	2.42;2.42	4.54	2.55	0.30701	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	.	.	.	.	T	0.33323	0.0859	L	0.60067	1.865	0.28715	N	0.903313	D	0.89917	1.0	D	0.66847	0.947	T	0.07578	-1.0765	9	0.87932	D	0	.	9.2326	0.37446	0.0:0.7723:0.1464:0.0813	.	176	Q8NDG6	TDRD9_HUMAN	C	176	ENSP00000387303:R176C;ENSP00000343545:R176C	ENSP00000343545:R176C	R	+	1	0	TDRD9	103501528	0.995000	0.38212	0.691000	0.30163	0.390000	0.30446	3.237000	0.51344	1.025000	0.39708	0.460000	0.39030	CGC		0.562	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046	
AHNAK2	113146	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	105416582	105416582	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:105416582C>T	ENST00000333244.5	-	7	5325	c.5206G>A	c.(5206-5208)Ggc>Agc	p.G1736S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1736						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTTTGAAGCCGGCTCCCTCG	0.637																																						.											0													85.0	97.0	93.0					14																	105416582		1811	4033	5844	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5206G>A	14.37:g.105416582C>T	ENSP00000353114:p.Gly1736Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	15.52	2.858847	0.51376	.	.	ENSG00000185567	ENST00000333244	T	0.01527	4.8	4.8	-4.57	0.03421	.	.	.	.	.	T	0.02083	0.0065	L	0.45581	1.43	0.09310	N	1	P	0.45240	0.854	P	0.46253	0.509	T	0.26395	-1.0104	9	0.08179	T	0.78	-4.5506	8.8196	0.35018	0.0:0.377:0.0985:0.5245	.	1736	Q8IVF2	AHNK2_HUMAN	S	1736	ENSP00000353114:G1736S	ENSP00000353114:G1736S	G	-	1	0	AHNAK2	104487627	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.303000	0.08210	-1.144000	0.02862	-1.256000	0.01477	GGC		0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
HIVEP3	59269	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	42047504	42047504	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:42047504G>A	ENST00000372583.1	-	4	3850	c.2965C>T	c.(2965-2967)Cgg>Tgg	p.R989W	HIVEP3_ENST00000372584.1_Missense_Mutation_p.R989W|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R989W|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R989W	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	989	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCTGACCTCCGCATCTCTCGG	0.602																																						.											0													77.0	79.0	79.0					1																	42047504		2203	4300	6503	SO:0001583	missense	59269			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2965C>T	1.37:g.42047504G>A	ENSP00000361664:p.Arg989Trp	Somatic		WXS	Illumina HiSeq	Phase_I	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295201	0.60086	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.01	4.07	0.47477	.	0.000000	0.45361	D	0.000372	T	0.49457	0.1558	M	0.76727	2.345	0.47584	D	0.99946	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.53585	-0.8418	10	0.87932	D	0	-0.5425	12.1102	0.53836	0.0:0.0:0.6775:0.3224	.	989;989	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	W	989	ENSP00000361665:R989W;ENSP00000361664:R989W;ENSP00000247584:R989W;ENSP00000410828:R989W	ENSP00000247584:R989W	R	-	1	2	HIVEP3	41820091	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	2.834000	0.48167	1.271000	0.44313	0.462000	0.41574	CGG		0.602	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503	
TEP1	7011	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	20854663	20854663	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:20854663C>A	ENST00000262715.5	-	19	2844	c.2804G>T	c.(2803-2805)aGc>aTc	p.S935I	TEP1_ENST00000556935.1_Missense_Mutation_p.S827I	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	935					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCCGTGAAGGCTGATACGGTG	0.637																																						.											0													44.0	39.0	41.0					14																	20854663		2203	4300	6503	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.2804G>T	14.37:g.20854663C>A	ENSP00000262715:p.Ser935Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139513	0.37728	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.43294	0.95;0.95	5.21	3.35	0.38373	.	0.534882	0.22064	N	0.065124	T	0.42314	0.1197	L	0.31420	0.93	0.49299	D	0.999771	P;D;P	0.58620	0.815;0.983;0.934	B;P;P	0.56700	0.387;0.804;0.617	T	0.34725	-0.9817	10	0.72032	D	0.01	-7.6996	8.1729	0.31264	0.0:0.4663:0.447:0.0867	.	827;285;935	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	I	935;935;827	ENSP00000262715:S935I;ENSP00000452574:S827I	ENSP00000262715:S935I	S	-	2	0	TEP1	19924503	0.948000	0.32251	0.939000	0.37840	0.011000	0.07611	1.342000	0.33919	1.168000	0.42723	-0.176000	0.13171	AGC		0.637	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110	
OR5AU1	390445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	21623218	21623218	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:21623218G>A	ENST00000304418.3	-	1	1004	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	323						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		GCAACTGTGCGGTCCTGGGTC	0.498																																						.											0													115.0	107.0	110.0					14																	21623218		2203	4300	6503	SO:0001583	missense	390445			AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"""GPCR / Class A : Olfactory receptors"""	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.967C>T	14.37:g.21623218G>A	ENSP00000302057:p.Arg323Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B2RP78|Q6IEU2|Q96R10	Missense_Mutation	SNP	ENST00000304418.3	37	CCDS32042.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276421	0.23307	.	.	ENSG00000169327	ENST00000304418	T	0.00130	8.69	4.48	0.337	0.15966	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00271	0.0008	M	0.70787	2.145	0.09310	N	0.999999	D	0.64830	0.994	P	0.58820	0.846	T	0.48864	-0.8997	9	0.87932	D	0	.	0.8644	0.01200	0.288:0.1586:0.3903:0.1631	.	323	Q8NGC0	O5AU1_HUMAN	C	323	ENSP00000302057:R323C	ENSP00000302057:R323C	R	-	1	0	OR5AU1	20693058	0.049000	0.20398	0.105000	0.21289	0.031000	0.12232	0.129000	0.15830	0.505000	0.28104	0.491000	0.48974	CGC		0.498	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1		
SUPT16H	11198	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	14	21834651	21834651	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:21834651G>A	ENST00000216297.2	-	8	1331	c.993C>T	c.(991-993)gaC>gaT	p.D331D		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	331					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TTTTAACCACGTCCATGACAG	0.353																																						.											0													234.0	212.0	219.0					14																	21834651		2203	4300	6503	SO:0001819	synonymous_variant	11198			AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.993C>T	14.37:g.21834651G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Silent	SNP	ENST00000216297.2	37	CCDS9569.1																																																																																				0.353	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2		
ACIN1	22985	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	14	23530539	23530539	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:23530539G>A	ENST00000262710.1	-	17	3893	c.3566C>T	c.(3565-3567)gCg>gTg	p.A1189V	ACIN1_ENST00000555053.1_Missense_Mutation_p.A1176V|ACIN1_ENST00000605057.1_Missense_Mutation_p.A1131V|ACIN1_ENST00000338631.6_Missense_Mutation_p.A462V|ACIN1_ENST00000457657.1_Missense_Mutation_p.A1149V|ACIN1_ENST00000397341.3_Missense_Mutation_p.A431V|ACIN1_ENST00000357481.2_Missense_Mutation_p.A431V|ACIN1_ENST00000557515.1_Missense_Mutation_p.A430V	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1189	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TTTAGACTTCGCACGTTCCTT	0.562																																						.											0													185.0	190.0	188.0					14																	23530539		2203	4300	6503	SO:0001583	missense	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3566C>T	14.37:g.23530539G>A	ENSP00000262710:p.Ala1189Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553228	0.65425	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.05513	3.43;3.43;3.43;3.43;3.43;3.43;3.43	4.79	3.89	0.44902	.	0.000000	0.39341	N	0.001387	T	0.04543	0.0124	L	0.34521	1.04	0.37513	D	0.917249	P;P;B;B;B	0.37500	0.597;0.462;0.231;0.022;0.086	B;B;B;B;B	0.22753	0.041;0.018;0.01;0.005;0.005	T	0.50162	-0.8860	10	0.33141	T	0.24	-10.8231	12.5296	0.56106	0.0831:0.0:0.9169:0.0	.	1176;1189;1149;462;431	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	V	430;462;431;1189;1149;431;1176	ENSP00000451138:A430V;ENSP00000345541:A462V;ENSP00000350073:A431V;ENSP00000262710:A1189V;ENSP00000405677:A1149V;ENSP00000380502:A431V;ENSP00000451328:A1176V	ENSP00000262710:A1189V	A	-	2	0	ACIN1	22600379	0.968000	0.33430	0.923000	0.36655	0.736000	0.42039	2.188000	0.42612	1.358000	0.45922	0.563000	0.77884	GCG		0.562	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977	
NYNRIN	57523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	24877295	24877295	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:24877295G>A	ENST00000382554.3	+	3	737	c.419G>A	c.(418-420)cGa>cAa	p.R140Q		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	140					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.R140Q(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTGGTGGGGCGACTGCGCTGG	0.682																																						.											1	Substitution - Missense(1)	prostate(1)											34.0	40.0	38.0					14																	24877295		2027	4175	6202	SO:0001583	missense	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.419G>A	14.37:g.24877295G>A	ENSP00000371994:p.Arg140Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.897699	0.72639	.	.	ENSG00000205978	ENST00000382554	T	0.14640	2.49	4.93	4.04	0.47022	.	0.120816	0.27262	N	0.020170	T	0.14270	0.0345	M	0.65975	2.015	0.25000	N	0.991479	B	0.29612	0.251	B	0.21917	0.037	T	0.20273	-1.0280	10	0.87932	D	0	.	7.2114	0.25935	0.194:0.0:0.806:0.0	.	140	Q9P2P1	NYNRI_HUMAN	Q	140	ENSP00000371994:R140Q	ENSP00000371994:R140Q	R	+	2	0	NYNRIN	23947135	0.838000	0.29461	0.923000	0.36655	0.905000	0.53344	2.990000	0.49401	1.297000	0.44761	0.563000	0.77884	CGA		0.682	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1		
NYNRIN	57523	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	14	24879316	24879316	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:24879316C>T	ENST00000382554.3	+	4	2634	c.2316C>T	c.(2314-2316)caC>caT	p.H772H		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	772					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGAGGTACCACGAGGCCCTGA	0.627																																						.											0													47.0	52.0	50.0					14																	24879316		2105	4231	6336	SO:0001819	synonymous_variant	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.2316C>T	14.37:g.24879316C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	CCDS45090.1																																																																																				0.627	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1		
GUCA2B	2981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	42620453	42620453	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:42620453G>A	ENST00000372581.1	+	2	223	c.193G>A	c.(193-195)Gcc>Acc	p.A65T		NM_007102.2	NP_009033.1	Q16661	GUC2B_HUMAN	guanylate cyclase activator 2B (uroguanylin)	65					body fluid secretion (GO:0007589)|cGMP biosynthetic process (GO:0006182)|excretion (GO:0007588)|negative regulation of blood pressure (GO:0045776)|positive regulation of guanylate cyclase activity (GO:0031284)	extracellular vesicular exosome (GO:0070062)	calcium sensitive guanylate cyclase activator activity (GO:0008048)			breast(1)|large_intestine(2)	3	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTCCTGCCCGCCGTGTGCCA	0.657																																						.											0													47.0	48.0	47.0					1																	42620453		2203	4300	6503	SO:0001583	missense	2981			BC069301	CCDS464.1	1p34-p33	2014-01-30			ENSG00000044012	ENSG00000044012		"""Endogenous ligands"""	4683	protein-coding gene	gene with protein product	"""prepro-uroguanylin"""	601271				8605041, 9268639	Standard	NM_007102		Approved		uc001chc.1	Q16661	OTTHUMG00000007024	ENST00000372581.1:c.193G>A	1.37:g.42620453G>A	ENSP00000361662:p.Ala65Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q52LV0	Missense_Mutation	SNP	ENST00000372581.1	37	CCDS464.1	.	.	.	.	.	.	.	.	.	.	g	5.429	0.264302	0.10294	.	.	ENSG00000044012	ENST00000372581	T	0.42900	0.96	4.83	-9.66	0.00534	.	1.074620	0.07201	N	0.857413	T	0.18509	0.0444	L	0.36672	1.1	0.09310	N	1	B	0.34313	0.448	B	0.25987	0.065	T	0.06427	-1.0827	10	0.13470	T	0.59	-0.6155	2.8913	0.05677	0.208:0.0771:0.2167:0.4983	.	65	Q16661	GUC2B_HUMAN	T	65	ENSP00000361662:A65T	ENSP00000361662:A65T	A	+	1	0	GUCA2B	42393040	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-4.184000	0.00278	-2.211000	0.00737	-0.974000	0.02594	GCC		0.657	GUCA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018307.1	NM_007102	
NPAS3	64067	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	14	34145548	34145548	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:34145548C>T	ENST00000356141.4	+	6	690	c.690C>T	c.(688-690)gcC>gcT	p.A230A	NPAS3_ENST00000551492.1_Silent_p.A235A|NPAS3_ENST00000346562.2_Silent_p.A198A|NPAS3_ENST00000548645.1_Silent_p.A200A|NPAS3_ENST00000357798.5_Silent_p.A217A|NPAS3_ENST00000547068.1_Silent_p.A126A|NPAS3_ENST00000551008.1_Silent_p.A128A|NPAS3_ENST00000341321.4_Silent_p.A230A			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	230					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AGGACGGAGCCAGCTCAGCAT	0.622																																						.											0													56.0	54.0	55.0					14																	34145548		2203	4300	6503	SO:0001819	synonymous_variant	64067			AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.690C>T	14.37:g.34145548C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	ENST00000356141.4	37	CCDS53891.1																																																																																				0.622	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1		
ST3GAL3	6487	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	44303969	44303969	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:44303969G>A	ENST00000361392.4	+	5	465	c.288G>A	c.(286-288)acG>acA	p.T96T	ST3GAL3_ENST00000545417.1_Silent_p.T111T|ST3GAL3_ENST00000533933.1_Silent_p.T96T|ST3GAL3_ENST00000353126.3_Silent_p.T96T|ST3GAL3_ENST00000372366.1_Silent_p.T95T|ST3GAL3_ENST00000372368.2_Silent_p.T150T|ST3GAL3_ENST00000372367.1_Silent_p.T95T|ST3GAL3_ENST00000528371.1_Silent_p.T80T|ST3GAL3_ENST00000347631.2_Silent_p.T111T|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000531993.1_Silent_p.T80T|ST3GAL3_ENST00000335430.6_Silent_p.T80T|ST3GAL3_ENST00000372369.1_Silent_p.T96T|ST3GAL3_ENST00000361746.4_Silent_p.T165T|ST3GAL3_ENST00000351035.3_Silent_p.T134T|ST3GAL3_ENST00000361400.4_Silent_p.T80T|ST3GAL3_ENST00000531451.1_Silent_p.T80T|ST3GAL3_ENST00000330208.2_Silent_p.T96T|ST3GAL3_ENST00000332628.6_Intron|ST3GAL3_ENST00000372372.2_Silent_p.T134T|ST3GAL3_ENST00000262915.3_Silent_p.T165T|ST3GAL3_ENST00000372365.1_Silent_p.T96T|ST3GAL3_ENST00000372375.2_Silent_p.T150T|ST3GAL3_ENST00000531816.1_Silent_p.T80T|ST3GAL3_ENST00000372362.2_Silent_p.T96T|ST3GAL3_ENST00000361812.4_Silent_p.T111T|ST3GAL3_ENST00000372374.2_Intron|ST3GAL3_ENST00000372377.4_Silent_p.T96T	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	96					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CCTTGATGACGGCCATCTTCC	0.542																																						.											0													184.0	168.0	173.0					1																	44303969		2203	4300	6503	SO:0001819	synonymous_variant	6487			L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"""Sialyltransferases"""	10866	protein-coding gene	gene with protein product	"""ST3Gal III"""	606494	"""sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)"", ""mental retardation, non-syndromic, autosomal recessive, 12"""	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.288G>A	1.37:g.44303969G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Silent	SNP	ENST00000361392.4	37	CCDS492.1																																																																																				0.542	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963	
NEMF	9147	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	14	50272839	50272839	+	Missense_Mutation	SNP	G	G	A	rs374912149		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:50272839G>A	ENST00000298310.5	-	19	2206	c.1757C>T	c.(1756-1758)cCc>cTc	p.P586L	NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Missense_Mutation_p.P565L|NEMF_ENST00000545773.1_Missense_Mutation_p.P544L			O60524	NEMF_HUMAN	nuclear export mediator factor	586					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						GGTCCGTGGGGGGATGGGTTC	0.473																																						.											0								G	LEU/PRO	0,4406		0,0,2203	97.0	81.0	86.0		1757	6.0	1.0	14		86	1,8599		0,1,4299	no	missense	NEMF	NM_004713.3	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	586/1077	50272839	1,13005	2203	4300	6503	SO:0001583	missense	9147			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.1757C>T	14.37:g.50272839G>A	ENSP00000298310:p.Pro586Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	G	33	5.237392	0.95240	0.0	1.16E-4	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.59083	0.29;0.36;0.45;0.36	6.01	6.01	0.97437	Domain of unknown function DUF814 (1);	0.000000	0.85682	D	0.000000	D	0.83454	0.5258	M	0.93720	3.45	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.997;0.999;0.999	D	0.86229	0.1636	10	0.66056	D	0.02	-9.9353	20.1162	0.97934	0.0:0.0:1.0:0.0	.	565;561;544;586	O60524-3;O60524-5;O60524-4;O60524	.;.;.;NEMF_HUMAN	L	586;544;565;358;544	ENSP00000298310:P586L;ENSP00000438309:P544L;ENSP00000441016:P565L;ENSP00000452540:P544L	ENSP00000298310:P586L	P	-	2	0	NEMF	49342589	1.000000	0.71417	0.969000	0.41365	0.983000	0.72400	8.734000	0.91543	2.861000	0.98227	0.650000	0.86243	CCC		0.473	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713	
NIN	51199	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	51245506	51245506	+	Missense_Mutation	SNP	C	C	T	rs190295991	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:51245506C>T	ENST00000382041.3	-	6	642	c.452G>A	c.(451-453)cGc>cAc	p.R151H	NIN_ENST00000245441.5_Missense_Mutation_p.R151H|NIN_ENST00000382043.4_Missense_Mutation_p.R151H|NIN_ENST00000453196.1_Missense_Mutation_p.R151H|NIN_ENST00000389868.3_Missense_Mutation_p.R151H|NIN_ENST00000324330.9_Missense_Mutation_p.R151H|NIN_ENST00000530997.2_Missense_Mutation_p.R151H	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	151					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTCCTCACTGCGTTGCGTCTT	0.512			T	PDGFRB	MPD								C|||	3	0.000599042	0.0	0.0	5008	,	,		18810	0.003		0.0	False		,,,				2504	0.0					.		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	133.0	108.0	117.0		452,452,452,452	-5.1	0.0	14		117	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense	NIN	NM_016350.4,NM_020921.3,NM_182944.2,NM_182946.1	29,29,29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign,benign	151/1378,151/2134,151/2047,151/2091	51245506	2,13004	2203	4300	6503	SO:0001583	missense	51199			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.452G>A	14.37:g.51245506C>T	ENSP00000371472:p.Arg151His	Somatic		WXS	Illumina HiSeq	Phase_I	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	CCDS32079.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	15.77	2.930127	0.52759	0.0	2.33E-4	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	T;T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94;1.94	5.3	-5.11	0.02901	.	0.773947	0.12806	N	0.437624	T	0.04588	0.0125	N	0.03115	-0.41	0.09310	N	0.999999	B;B;B;B;B	0.16166	0.01;0.016;0.007;0.0;0.006	B;B;B;B;B	0.06405	0.002;0.002;0.002;0.0;0.001	T	0.29366	-1.0014	10	0.33141	T	0.24	3.2268	7.5949	0.28041	0.0:0.2535:0.2088:0.5377	.	157;151;151;151;151	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	H	151;151;151;151;157;151;151;151;113	ENSP00000245441:R151H;ENSP00000374518:R151H;ENSP00000371474:R151H;ENSP00000371472:R151H;ENSP00000324210:R151H;ENSP00000412391:R151H;ENSP00000398641:R113H	ENSP00000245441:R151H	R	-	2	0	NIN	50315256	0.000000	0.05858	0.012000	0.15200	0.841000	0.47740	-1.605000	0.02074	-0.845000	0.04179	-0.345000	0.07892	CGC		0.512	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946	
MAST2	23139	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	46493480	46493480	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:46493480C>T	ENST00000361297.2	+	17	2280	c.1997C>T	c.(1996-1998)aCg>aTg	p.T666M	MAST2_ENST00000372009.2_Missense_Mutation_p.T596M	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					AGTCTGACAACGAACTTGTAT	0.458																																						.											0													115.0	113.0	113.0					1																	46493480		1908	4135	6043	SO:0001583	missense	23139			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1997C>T	1.37:g.46493480C>T	ENSP00000354671:p.Thr666Met	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000361297.2	37	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134446	0.77662	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.68624	-0.3;-0.26;-0.34	5.41	5.41	0.78517	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053664	0.64402	D	0.000001	T	0.78181	0.4243	L	0.43554	1.36	0.80722	D	1	D;D;D;D	0.89917	1.0;0.995;1.0;1.0	D;P;D;D	0.91635	0.996;0.906;0.999;0.999	T	0.79443	-0.1801	10	0.87932	D	0	-13.9027	19.5867	0.95492	0.0:1.0:0.0:0.0	.	596;340;596;666	Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;MAST2_HUMAN	M	666;596;340;551	ENSP00000354671:T666M;ENSP00000361079:T596M;ENSP00000361078:T551M	ENSP00000354671:T666M	T	+	2	0	MAST2	46266067	1.000000	0.71417	0.993000	0.49108	0.426000	0.31534	7.818000	0.86416	2.712000	0.92718	0.561000	0.74099	ACG		0.458	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112	
ZFYVE1	53349	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	73441651	73441651	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:73441651G>A	ENST00000556143.1	-	10	2543	c.1823C>T	c.(1822-1824)gCg>gTg	p.A608V	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.A594V|ZFYVE1_ENST00000555072.1_Missense_Mutation_p.A193V|ZFYVE1_ENST00000394207.2_Missense_Mutation_p.A193V|ZFYVE1_ENST00000554145.1_5'UTR|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.A608V	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	608					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		AAAGGACGTCGCACACTTGTT	0.527																																						.											0													81.0	77.0	78.0					14																	73441651		2203	4300	6503	SO:0001583	missense	53349			AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.1823C>T	14.37:g.73441651G>A	ENSP00000450742:p.Ala608Val	Somatic		WXS	Illumina HiSeq	Phase_I	J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.644266	0.47258	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143;ENST00000394207;ENST00000555072	T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06	6.17	4.3	0.51218	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.753997	0.13519	N	0.381842	T	0.65842	0.2730	L	0.34521	1.04	0.09310	N	0.999998	B;B	0.31256	0.316;0.126	B;B	0.24006	0.05;0.041	T	0.56932	-0.7897	10	0.54805	T	0.06	-12.6079	9.4951	0.38984	0.0:0.2226:0.4171:0.3602	.	608;608	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	V	608;594;608;193;193	ENSP00000452442:A608V;ENSP00000326921:A594V;ENSP00000450742:A608V;ENSP00000377757:A193V;ENSP00000452232:A193V	ENSP00000326921:A608V	A	-	2	0	ZFYVE1	72511404	0.793000	0.28825	1.000000	0.80357	0.994000	0.84299	1.786000	0.38694	0.880000	0.35969	0.655000	0.94253	GCG		0.527	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260	
RBM25	58517	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	73570174	73570174	+	Missense_Mutation	SNP	G	G	A	rs202176813		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:73570174G>A	ENST00000261973.7	+	10	1427	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	RBM25_ENST00000527432.1_Missense_Mutation_p.R381H	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	381	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		AATAAGGATCGCAGTCGATCA	0.468																																						.											0													73.0	64.0	67.0					14																	73570174		2203	4300	6503	SO:0001583	missense	58517			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1142G>A	14.37:g.73570174G>A	ENSP00000261973:p.Arg381His	Somatic		WXS	Illumina HiSeq	Phase_I	A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205316	0.58234	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.15952	2.38;2.38	5.75	5.75	0.90469	.	0.053390	0.85682	D	0.000000	T	0.14787	0.0357	L	0.34521	1.04	0.80722	D	1	P	0.42483	0.781	B	0.35240	0.198	T	0.01706	-1.1291	10	0.46703	T	0.11	.	17.7126	0.88326	0.0:0.0:1.0:0.0	.	381	P49756	RBM25_HUMAN	H	381	ENSP00000261973:R381H;ENSP00000431150:R381H	ENSP00000261973:R381H	R	+	2	0	RBM25	72639927	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	8.547000	0.90665	2.712000	0.92718	0.655000	0.94253	CGC		0.468	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330	
YLPM1	56252	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	75302098	75302098	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:75302098G>A	ENST00000552421.1	+	19	4431	c.4307G>A	c.(4306-4308)cGa>cAa	p.R1436Q	YLPM1_ENST00000325680.7_Missense_Mutation_p.R2142Q			P49750	YLPM1_HUMAN	YLP motif containing 1	1947					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GCCCTCAATCGAACCAAATAT	0.413																																						.											0													96.0	97.0	97.0					14																	75302098		1872	4103	5975	SO:0001583	missense	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.4307G>A	14.37:g.75302098G>A	ENSP00000447921:p.Arg1436Gln	Somatic		WXS	Illumina HiSeq	Phase_I	P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37		.	.	.	.	.	.	.	.	.	.	G	21.6	4.179110	0.78564	.	.	ENSG00000119596	ENST00000552421;ENST00000325680	T;T	0.36699	1.24;1.24	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000018	T	0.49626	0.1568	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.45293	-0.9271	10	0.46703	T	0.11	-8.0289	20.2768	0.98488	0.0:0.0:1.0:0.0	.	2142	P49750-4	.	Q	1436;2142	ENSP00000447921:R1436Q;ENSP00000324463:R2142Q	ENSP00000324463:R2142Q	R	+	2	0	YLPM1	74371851	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.797000	0.96272	0.655000	0.94253	CGA		0.413	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589	
TTC8	123016	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	14	89307767	89307767	+	Splice_Site	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:89307767A>G	ENST00000345383.5	+	5	543		c.e5-1		TTC8_ENST00000380656.2_Splice_Site|TTC8_ENST00000358622.5_5'Flank|TTC8_ENST00000346301.4_Intron|TTC8_ENST00000354441.6_Intron|Y_RNA_ENST00000384612.1_RNA|TTC8_ENST00000338104.6_Splice_Site|TTC8_ENST00000536576.1_Intron	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8						axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TTTCCTCTGTAGGCTTCCATG	0.308																																						.											0													70.0	70.0	70.0					14																	89307767		2203	4298	6501	SO:0001630	splice_region_variant	123016			AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"""Tetratricopeptide (TTC) repeat domain containing"""	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.460-1A>G	14.37:g.89307767A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Splice_Site	SNP	ENST00000345383.5	37	CCDS9885.1	.	.	.	.	.	.	.	.	.	.	A	17.48	3.401036	0.62288	.	.	ENSG00000165533	ENST00000343648;ENST00000345383;ENST00000338104;ENST00000380656;ENST00000556651	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7711	0.78170	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC8	88377520	1.000000	0.71417	0.985000	0.45067	0.836000	0.47400	8.876000	0.92379	2.136000	0.66102	0.460000	0.39030	.		0.308	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596	Intron
GOLGA5	9950	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	93277911	93277911	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:93277911C>T	ENST00000163416.2	+	6	1388	c.1132C>T	c.(1132-1134)Cgc>Tgc	p.R378C	GOLGA5_ENST00000355976.2_Missense_Mutation_p.R378C	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	378					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GTTTGCTGCACGCCTTAATAA	0.358			T	RET	papillary thyroid																																	.		Dom	yes		14	14q	9950	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""		E	0													71.0	74.0	73.0					14																	93277911		2203	4300	6503	SO:0001583	missense	9950			AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.1132C>T	14.37:g.93277911C>T	ENSP00000163416:p.Arg378Cys	Somatic		WXS	Illumina HiSeq	Phase_I	C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310531	0.60414	.	.	ENSG00000066455	ENST00000163416;ENST00000355976;ENST00000439315	T;T	0.55930	0.49;0.49	5.22	4.33	0.51752	.	0.130046	0.35262	N	0.003329	T	0.51958	0.1705	M	0.71581	2.175	0.80722	D	1	P	0.47106	0.89	B	0.38985	0.287	T	0.61098	-0.7131	10	0.87932	D	0	-2.9888	14.1378	0.65297	0.0:0.9268:0.0:0.0731	.	378	Q8TBA6	GOGA5_HUMAN	C	378;378;287	ENSP00000163416:R378C;ENSP00000348252:R378C	ENSP00000163416:R378C	R	+	1	0	GOLGA5	92347664	1.000000	0.71417	0.999000	0.59377	0.821000	0.46438	5.516000	0.67055	1.192000	0.43071	0.557000	0.71058	CGC		0.358	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1		
MAGEL2	54551	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	15	23889371	23889371	+	Silent	SNP	A	A	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:23889371A>T	ENST00000532292.1	-	1	1804	c.1710T>A	c.(1708-1710)ccT>ccA	p.P570P		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	453					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GCTCAGTGTAAGGGATTCGCC	0.507																																						.											0													49.0	50.0	50.0					15																	23889371		1914	4128	6042	SO:0001819	synonymous_variant	54551			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1710T>A	15.37:g.23889371A>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000532292.1	37		.	.	.	.	.	.	.	.	.	.	A	6.277	0.419253	0.11870	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.52	-8.18	0.01053	.	.	.	.	.	T	0.28928	0.0718	.	.	.	0.21499	N	0.999664	.	.	.	.	.	.	T	0.34875	-0.9811	4	.	.	.	.	11.1534	0.48473	0.7556:0.1131:0.1313:0.0	.	.	.	.	H	602	.	.	L	-	2	0	MAGEL2	21440464	0.082000	0.21442	0.000000	0.03702	0.825000	0.46686	-0.403000	0.07214	-1.612000	0.01579	-0.414000	0.06135	CTT		0.507	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066	
HERC2	8924	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	28427617	28427617	+	Missense_Mutation	SNP	G	G	A	rs200987196		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:28427617G>A	ENST00000261609.7	-	57	8975	c.8867C>T	c.(8866-8868)aCg>aTg	p.T2956M		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGTTCTTATCGTAGCTGCTGA	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		14650	0.0		0.0	False		,,,				2504	0.001					.											0													70.0	71.0	71.0					15																	28427617		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.8867C>T	15.37:g.28427617G>A	ENSP00000261609:p.Thr2956Met	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123030	0.56613	.	.	ENSG00000128731	ENST00000261609	T	0.39406	1.08	5.16	5.16	0.70880	.	0.055502	0.64402	D	0.000001	T	0.45637	0.1352	N	0.08118	0	0.58432	D	0.999995	D	0.89917	1.0	D	0.69654	0.965	T	0.55995	-0.8052	10	0.48119	T	0.1	.	18.6542	0.91445	0.0:0.0:1.0:0.0	.	2956	O95714	HERC2_HUMAN	M	2956	ENSP00000261609:T2956M	ENSP00000261609:T2956M	T	-	2	0	HERC2	26101212	1.000000	0.71417	0.729000	0.30791	0.363000	0.29612	6.593000	0.74100	2.386000	0.81285	0.650000	0.86243	ACG		0.493	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
TJP1	7082	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	30010880	30010880	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:30010880G>A	ENST00000346128.6	-	21	3940	c.3466C>T	c.(3466-3468)Cgg>Tgg	p.R1156W	TJP1_ENST00000356107.6_Missense_Mutation_p.R1156W|TJP1_ENST00000400011.2_Missense_Mutation_p.R1080W|TJP1_ENST00000545208.2_Missense_Mutation_p.R1076W	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1156					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCTTCGTGCCGCAGGGCGGAT	0.592																																					Melanoma(77;681 1843 6309 6570)	.											0													88.0	93.0	92.0					15																	30010880		2091	4227	6318	SO:0001583	missense	7082				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.3466C>T	15.37:g.30010880G>A	ENSP00000281537:p.Arg1156Trp	Somatic		WXS	Illumina HiSeq	Phase_I	B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328664	0.60743	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.11604	2.82;2.76	6.05	5.13	0.70059	.	0.057456	0.64402	D	0.000001	T	0.31513	0.0799	L	0.61218	1.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.72075	0.971;0.976;0.928;0.973	T	0.04427	-1.0952	10	0.87932	D	0	.	16.7023	0.85357	0.0:0.0:0.8694:0.1306	.	1149;1076;1156;1080	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	W	1156;1080;1156;1076;1076	ENSP00000281537:R1156W;ENSP00000382890:R1080W	ENSP00000281537:R1156W	R	-	1	2	TJP1	27798172	1.000000	0.71417	0.074000	0.20217	0.074000	0.17049	5.902000	0.69869	1.538000	0.49270	0.650000	0.86243	CGG		0.592	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257	
ZFYVE19	84936	hgsc.bcm.edu;mdanderson.org	37	15	41105576	41105576	+	Silent	SNP	C	C	T	rs201883316		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:41105576C>T	ENST00000355341.4	+	8	1572	c.1071C>T	c.(1069-1071)gaC>gaT	p.D357D	ZFYVE19_ENST00000336455.5_Silent_p.D347D|ZFYVE19_ENST00000570108.1_Silent_p.D334D|ZFYVE19_ENST00000564258.1_Silent_p.D182D|ZFYVE19_ENST00000299173.10_Silent_p.D289D	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	357					abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GTGATGACGACGAGGATGAGG	0.582													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19736	0.0		0.0	False		,,,				2504	0.0					.											0								C		1,4161		0,1,2080	50.0	57.0	54.0		1071	-6.9	0.6	15		54	0,8418		0,0,4209	no	coding-synonymous	ZFYVE19	NM_001077268.1		0,1,6289	TT,TC,CC		0.0,0.024,0.0079		357/472	41105576	1,12579	2081	4209	6290	SO:0001819	synonymous_variant	84936			AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"""Zinc fingers, FYVE domain containing"""	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.1071C>T	15.37:g.41105576C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Silent	SNP	ENST00000355341.4	37	CCDS42025.1																																																																																				0.582	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418996.1	NM_032850	
PLA2G4B	100137049	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	15	42131115	42131115	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:42131115G>T	ENST00000452633.1	+	2	356	c.4G>T	c.(4-6)Gct>Tct	p.A2S	JMJD7-PLA2G4B_ENST00000476036.1_Intron|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.A2S|PLA2G4B_ENST00000542534.2_Intron|JMJD7-PLA2G4B_ENST00000342159.4_Intron|JMJD7-PLA2G4B_ENST00000382448.4_Intron			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	2	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		CAGTCTCATGGCTGTGGTAAG	0.562																																						.											0													44.0	40.0	41.0					15																	42131115		1567	3581	5148	SO:0001583	missense	100137049			AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.4G>T	15.37:g.42131115G>T	ENSP00000396045:p.Ala2Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	15.82	2.945454	0.53079	.	.	ENSG00000168970;ENSG00000243708	ENST00000458483;ENST00000452633	T;T	0.01313	5.02;5.02	5.15	5.15	0.70609	.	.	.	.	.	T	0.01189	0.0039	.	.	.	0.22666	N	0.998871	P	0.46987	0.888	B	0.42163	0.378	T	0.52102	-0.8620	8	0.06757	T	0.87	-0.7799	14.5006	0.67719	0.0:0.0:1.0:0.0	.	2	P0C869	PA24B_HUMAN	S	2	ENSP00000416610:A2S;ENSP00000396045:A2S	ENSP00000416610:A2S	A	+	1	0	JMJD7-PLA2G4B;PLA2G4B	39918407	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	4.743000	0.62110	2.567000	0.86603	0.655000	0.94253	GCT		0.562	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633	
EHD4	30844	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	15	42193092	42193092	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:42193092C>T	ENST00000220325.4	-	6	1460	c.1377G>A	c.(1375-1377)tcG>tcA	p.S459S	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	459	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CATTGATGGGCGACAGAGTGT	0.602																																						.											0													86.0	72.0	77.0					15																	42193092		2203	4299	6502	SO:0001819	synonymous_variant	30844			AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1377G>A	15.37:g.42193092C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q9HAR1|Q9NZN2	Silent	SNP	ENST00000220325.4	37	CCDS10081.1																																																																																				0.602	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265	
TGM7	116179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	43585733	43585733	+	Missense_Mutation	SNP	C	C	T	rs150218635	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:43585733C>T	ENST00000452443.2	-	2	111	c.107G>A	c.(106-108)cGc>cAc	p.R36H		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	36					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CTGGCCGCGGCGCACAGTGAG	0.617																																						.											0									HIS/ARG	5,4397	9.9+/-24.2	0,5,2196	84.0	86.0	85.0		107	5.1	1.0	15	dbSNP_134	85	0,8596		0,0,4298	no	missense	TGM7	NM_052955.2	29	0,5,6494	TT,TC,CC		0.0,0.1136,0.0385	probably-damaging	36/711	43585733	5,12993	2201	4298	6499	SO:0001583	missense	116179			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.107G>A	15.37:g.43585733C>T	ENSP00000389466:p.Arg36His	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000452443.2	37	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	c	21.9	4.211069	0.79240	0.001136	0.0	ENSG00000159495	ENST00000452443	D	0.98947	-5.26	5.07	5.07	0.68467	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99275	0.9747	M	0.92833	3.35	0.38616	D	0.951023	D	0.89917	1.0	D	0.91635	0.999	D	0.99858	1.1079	10	0.87932	D	0	-20.0004	14.3332	0.66572	0.0:1.0:0.0:0.0	.	36	Q96PF1	TGM7_HUMAN	H	36	ENSP00000389466:R36H	ENSP00000389466:R36H	R	-	2	0	TGM7	41373025	1.000000	0.71417	0.967000	0.41034	0.064000	0.16182	5.029000	0.64121	2.534000	0.85438	0.454000	0.30748	CGC		0.617	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955	
MAP1A	4130	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	15	43821457	43821457	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:43821457C>T	ENST00000300231.5	+	4	8236	c.7786C>T	c.(7786-7788)Cgg>Tgg	p.R2596W	MAP1A_ENST00000382031.1_Missense_Mutation_p.R2834W|MAP1A_ENST00000399453.1_Missense_Mutation_p.R2596W			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2596					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGAGAGGCTACGGGAGAAGGA	0.662																																						.											0													36.0	43.0	41.0					15																	43821457		1912	4110	6022	SO:0001583	missense	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.7786C>T	15.37:g.43821457C>T	ENSP00000300231:p.Arg2596Trp	Somatic		WXS	Illumina HiSeq	Phase_I	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.132937	0.37630	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01505	4.82;4.82;4.82	4.95	4.95	0.65309	.	.	.	.	.	T	0.04452	0.0122	N	0.22421	0.69	0.37754	D	0.92608	D	0.89917	1.0	D	0.67548	0.952	T	0.52660	-0.8546	9	0.87932	D	0	-12.1772	12.2202	0.54429	0.0:0.9111:0.0:0.0889	.	2596	P78559	MAP1A_HUMAN	W	2834;2596;2596	ENSP00000371462:R2834W;ENSP00000382380:R2596W;ENSP00000300231:R2596W	ENSP00000300231:R2596W	R	+	1	2	MAP1A	41608749	0.182000	0.23173	1.000000	0.80357	0.988000	0.76386	1.218000	0.32467	2.557000	0.86248	0.462000	0.41574	CGG		0.662	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373	
FBN1	2200	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	15	48703307	48703307	+	Silent	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:48703307A>G	ENST00000316623.5	-	66	8951	c.8496T>C	c.(8494-8496)agT>agC	p.S2832S	FBN1_ENST00000561429.1_5'Flank	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2832					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTGGAGTACTACTGATTTGTA	0.373																																						.											0													123.0	125.0	124.0					15																	48703307		2198	4296	6494	SO:0001819	synonymous_variant	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.8496T>C	15.37:g.48703307A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	CCDS32232.1																																																																																				0.373	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
CEP152	22995	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	15	49030737	49030737	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:49030737G>A	ENST00000380950.2	-	27	5029	c.4842C>T	c.(4840-4842)tcC>tcT	p.S1614S	CEP152_ENST00000399334.3_Silent_p.S1558S	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1614					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AAAGATAACCGGATGGTGAAA	0.378																																						.											0													100.0	99.0	99.0					15																	49030737		1904	4130	6034	SO:0001819	synonymous_variant	22995			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.4842C>T	15.37:g.49030737G>A		Somatic		WXS	Illumina HiSeq	Phase_I	E7ER66|Q17RV1|Q6NTA0	Silent	SNP	ENST00000380950.2	37	CCDS58361.1																																																																																				0.378	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985	
SECISBP2L	9728	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	49304966	49304966	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:49304966G>T	ENST00000559471.1	-	12	1873	c.1610C>A	c.(1609-1611)cCt>cAt	p.P537H	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.P492H	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	537							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TTTGGTTAAAGGTTTTCTATT	0.353																																						.											0													102.0	109.0	107.0					15																	49304966		2197	4295	6492	SO:0001583	missense	9728			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.1610C>A	15.37:g.49304966G>T	ENSP00000453854:p.Pro537His	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201942	0.58234	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.72725	-0.68	5.76	5.76	0.90799	.	0.411718	0.29853	N	0.011027	T	0.53610	0.1807	N	0.08118	0	0.28199	N	0.927438	B;P	0.41569	0.412;0.755	B;B	0.41036	0.125;0.346	T	0.57207	-0.7851	10	0.52906	T	0.07	.	13.2058	0.59795	0.0726:0.0:0.9274:0.0	.	537;492	Q93073;Q93073-2	SBP2L_HUMAN;.	H	492;537	ENSP00000261847:P492H	ENSP00000261847:P492H	P	-	2	0	SECISBP2L	47092258	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.336000	0.72954	2.727000	0.93392	0.650000	0.86243	CCT		0.353	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701	
HERC1	8925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	63966709	63966709	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:63966709G>A	ENST00000443617.2	-	38	7765	c.7678C>T	c.(7678-7680)Cga>Tga	p.R2560*	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2560					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGGGCTGCTCGCATCTCCACG	0.493																																						.											0													74.0	72.0	73.0					15																	63966709		2050	4221	6271	SO:0001587	stop_gained	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.7678C>T	15.37:g.63966709G>A	ENSP00000390158:p.Arg2560*	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IW65	Nonsense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	48	14.509192	0.99798	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9748	0.71264	0.0:0.0:0.8574:0.1426	.	.	.	.	X	2560	.	ENSP00000390158:R2560X	R	-	1	2	HERC1	61753762	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.095000	0.57728	2.775000	0.95449	0.650000	0.86243	CGA		0.493	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
PLEKHO2	80301	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	15	65157910	65157910	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:65157910C>T	ENST00000323544.4	+	6	1424	c.1296C>T	c.(1294-1296)ggC>ggT	p.G432G	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	432										NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGGTGCTGGGCAGTGAGCCGG	0.612																																						.											0													46.0	49.0	48.0					15																	65157910		2202	4299	6501	SO:0001819	synonymous_variant	80301			AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"""Pleckstrin homology (PH) domain containing"""	30026	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family Q member 1"""	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.1296C>T	15.37:g.65157910C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q7L4H4|Q8WYS8	Silent	SNP	ENST00000323544.4	37	CCDS10196.1																																																																																				0.612	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1	NM_025201	
UBAP1L	390595	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	15	65391969	65391969	+	Silent	SNP	C	C	T	rs185974312		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:65391969C>T	ENST00000559089.1	-	4	1003	c.783G>A	c.(781-783)gcG>gcA	p.A261A	UBAP1L_ENST00000502113.2_Silent_p.A261A			F5GYI3	UBA1L_HUMAN	ubiquitin associated protein 1-like	261										breast(1)|endometrium(1)|kidney(1)	3						GCAGGTCAGCCGCAGTATCAG	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		19045	0.001		0.0	False		,,,				2504	0.0					.											0													35.0	35.0	35.0					15																	65391969		691	1590	2281	SO:0001819	synonymous_variant	390595				CCDS53948.1	15q22.31	2011-08-15			ENSG00000246922	ENSG00000246922			40028	protein-coding gene	gene with protein product							Standard	NM_001163692		Approved		uc010uit.2	F5GYI3		ENST00000559089.1:c.783G>A	15.37:g.65391969C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000559089.1	37	CCDS53948.1																																																																																				0.612	UBAP1L-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418469.1	NM_001163692	
MEGF11	84465	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	15	66214758	66214758	+	Silent	SNP	G	G	A	rs146260891	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:66214758G>A	ENST00000409699.2	-	15	2047	c.1875C>T	c.(1873-1875)tgC>tgT	p.C625C	MEGF11_ENST00000288745.3_Silent_p.C550C|MEGF11_ENST00000422354.1_Silent_p.C625C|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000395625.2_Silent_p.C550C|MEGF11_ENST00000360698.4_Silent_p.C625C			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	625					homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TGCTGTGCACGCAGAGGGGGC	0.637													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17955	0.0		0.0	False		,,,				2504	0.0					.											0								G		2,4396		0,2,2197	24.0	22.0	22.0		1875	-1.3	1.0	15	dbSNP_134	22	0,8580		0,0,4290	no	coding-synonymous	MEGF11	NM_032445.2		0,2,6487	AA,AG,GG		0.0,0.0455,0.0154		625/1045	66214758	2,12976	2199	4290	6489	SO:0001819	synonymous_variant	84465			AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.1875C>T	15.37:g.66214758G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q17R86|Q6UXS5|Q8ND91|Q96KG6	Silent	SNP	ENST00000409699.2	37	CCDS10213.2																																																																																				0.637	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445	
SMAD3	4088	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	67358664	67358664	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:67358664C>T	ENST00000327367.4	+	1	482	c.172C>T	c.(172-174)Cag>Tag	p.Q58*		NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	58	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CATCACCACGCAGAACGTCAA	0.677																																						.											0													98.0	91.0	93.0					15																	67358664		2199	4299	6498	SO:0001587	stop_gained	4088			BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.172C>T	15.37:g.67358664C>T	ENSP00000332973:p.Gln58*	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Nonsense_Mutation	SNP	ENST00000327367.4	37	CCDS10222.1	.	.	.	.	.	.	.	.	.	.	C	40	8.222234	0.98712	.	.	ENSG00000166949	ENST00000327367;ENST00000535241	.	.	.	4.21	4.21	0.49690	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	16.0748	0.80962	0.0:1.0:0.0:0.0	.	.	.	.	X	58	.	ENSP00000332973:Q58X	Q	+	1	0	SMAD3	65145718	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.334000	0.79224	2.315000	0.78130	0.561000	0.74099	CAG		0.677	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902	
GLCE	26035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	69548276	69548276	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:69548276G>T	ENST00000261858.2	+	3	359	c.131G>T	c.(130-132)aGt>aTt	p.S44I	GLCE_ENST00000559420.2_5'UTR	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	44					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						CGGCGTTCGAGTAGTGGCTTC	0.438																																						.											0													101.0	97.0	98.0					15																	69548276		2200	4298	6498	SO:0001583	missense	26035			AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"""heparan sulfate epimerase"""	612134	"""D-glucuronyl C5-epimerase"", ""UDP-glucuronic acid epimerase"""			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.131G>T	15.37:g.69548276G>T	ENSP00000261858:p.Ser44Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q6GUQ2	Missense_Mutation	SNP	ENST00000261858.2	37	CCDS32277.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.841090	0.32513	.	.	ENSG00000138604	ENST00000261858	T	0.32515	1.45	5.3	3.39	0.38822	.	0.732889	0.14624	N	0.308237	T	0.16557	0.0398	N	0.08118	0	0.30766	N	0.743522	B	0.12013	0.005	B	0.09377	0.004	T	0.09465	-1.0673	10	0.39692	T	0.17	-12.9551	11.3542	0.49607	0.1588:0.0:0.8412:0.0	.	44	O94923	GLCE_HUMAN	I	44	ENSP00000261858:S44I	ENSP00000261858:S44I	S	+	2	0	GLCE	67335330	0.027000	0.19231	1.000000	0.80357	0.886000	0.51366	0.851000	0.27751	1.361000	0.45981	0.655000	0.94253	AGT		0.438	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554	
C1orf168	199920	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	57185885	57185885	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:57185885C>T	ENST00000343433.6	-	18	2172	c.2092G>A	c.(2092-2094)Gaa>Aaa	p.E698K		NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	698										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						AGATTTTGTTCGGTGGTATCA	0.303																																						.											0													73.0	69.0	70.0					1																	57185885		2202	4299	6501	SO:0001583	missense	199920			BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.2092G>A	1.37:g.57185885C>T	ENSP00000345972:p.Glu698Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q63HM3|Q6ZUY6	Missense_Mutation	SNP	ENST00000343433.6	37	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.573175	0.45902	.	.	ENSG00000187889	ENST00000343433	T	0.33865	1.39	4.85	1.8	0.24995	Src homology-3 domain (2);	0.106418	0.40385	N	0.001119	T	0.30510	0.0767	M	0.68317	2.08	0.37302	D	0.908737	B	0.31989	0.35	B	0.22880	0.042	T	0.33624	-0.9861	10	0.62326	D	0.03	-12.4878	8.1341	0.31043	0.0:0.7104:0.1321:0.1575	.	698	Q5VWT5	CA168_HUMAN	K	698	ENSP00000345972:E698K	ENSP00000345972:E698K	E	-	1	0	C1orf168	56958473	0.970000	0.33590	0.944000	0.38274	0.296000	0.27459	1.987000	0.40687	0.777000	0.33496	-0.727000	0.03589	GAA		0.303	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303	
MYO9A	4649	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	15	72292238	72292238	+	Missense_Mutation	SNP	G	G	A	rs148826761		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:72292238G>A	ENST00000356056.5	-	9	1896	c.1424C>T	c.(1423-1425)aCg>aTg	p.T475M	MYO9A_ENST00000566885.1_Missense_Mutation_p.T70M|MYO9A_ENST00000563542.1_5'UTR|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000424560.1_Missense_Mutation_p.T475M|MYO9A_ENST00000444904.1_Missense_Mutation_p.T456M|MYO9A_ENST00000564571.1_Missense_Mutation_p.T475M	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	475	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CACTGTCACCGTCTTCCTTGT	0.328																																						.											0								G	MET/THR	0,4398		0,0,2199	166.0	151.0	156.0		1424	5.7	1.0	15	dbSNP_134	156	1,8593	1.2+/-3.3	0,1,4296	no	missense	MYO9A	NM_006901.2	81	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	475/2549	72292238	1,12991	2199	4297	6496	SO:0001583	missense	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.1424C>T	15.37:g.72292238G>A	ENSP00000348349:p.Thr475Met	Somatic		WXS	Illumina HiSeq	Phase_I	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.993643	0.93167	0.0	1.16E-4	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.86627	-2.15;-2.15;-2.15	5.73	5.73	0.89815	Myosin head, motor domain (2);	.	.	.	.	D	0.88614	0.6484	N	0.17594	0.5	0.80722	D	1	D;P;D;D	0.89917	1.0;0.884;0.988;0.974	D;B;P;P	0.85130	0.997;0.422;0.576;0.871	D	0.87321	0.2318	9	0.30078	T	0.28	.	19.4942	0.95065	0.0:0.0:1.0:0.0	.	456;475;456;475	B2RTY4-2;B2RTY4-3;B7WP69;B2RTY4	.;.;.;MYO9A_HUMAN	M	475;475;456;456;475	ENSP00000348349:T475M;ENSP00000399162:T475M;ENSP00000398250:T456M	ENSP00000261864:T456M	T	-	2	0	MYO9A	70079292	1.000000	0.71417	0.987000	0.45799	0.989000	0.77384	9.145000	0.94634	2.706000	0.92434	0.557000	0.71058	ACG		0.328	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901	
HCN4	10021	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	73615982	73615982	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:73615982C>T	ENST00000261917.3	-	8	3445	c.2452G>A	c.(2452-2454)Ggt>Agt	p.G818S		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	818					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGCCCGGCACCGAGGTTGCCC	0.697																																						.											0													26.0	30.0	29.0					15																	73615982		2194	4295	6489	SO:0001583	missense	10021			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2452G>A	15.37:g.73615982C>T	ENSP00000261917:p.Gly818Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	8.628	0.892994	0.17613	.	.	ENSG00000138622	ENST00000261917	T	0.78003	-1.14	3.59	3.59	0.41128	.	.	.	.	.	T	0.69780	0.3149	L	0.47716	1.5	0.09310	N	1	D	0.67145	0.996	P	0.45343	0.477	T	0.59268	-0.7486	9	0.08599	T	0.76	.	10.7797	0.46371	0.1896:0.8104:0.0:0.0	.	818	Q9Y3Q4	HCN4_HUMAN	S	818	ENSP00000261917:G818S	ENSP00000261917:G818S	G	-	1	0	HCN4	71403035	0.254000	0.23992	0.173000	0.22940	0.177000	0.22998	1.910000	0.39927	1.828000	0.53243	0.462000	0.41574	GGT		0.697	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477	
PML	5371	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	15	74315583	74315583	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:74315583C>T	ENST00000268058.3	+	3	1113	c.1017C>T	c.(1015-1017)taC>taT	p.Y339Y	PML_ENST00000395132.2_Silent_p.Y339Y|PML_ENST00000565898.1_Silent_p.Y339Y|PML_ENST00000436891.3_Silent_p.Y339Y|PML_ENST00000569477.1_Silent_p.Y339Y|PML_ENST00000569965.1_Silent_p.Y339Y|PML_ENST00000359928.4_Silent_p.Y339Y|PML_ENST00000563500.1_Silent_p.Y339Y|PML_ENST00000395135.3_Silent_p.Y339Y|PML_ENST00000268059.6_Silent_p.Y339Y|PML_ENST00000567543.1_Silent_p.Y339Y|PML_ENST00000569161.1_3'UTR|PML_ENST00000564428.1_Silent_p.Y339Y|PML_ENST00000435786.2_Silent_p.Y339Y|PML_ENST00000354026.6_Silent_p.Y339Y	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	339					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TGAAGTGCTACGCCTCGGACC	0.692			T	"""RARA, PAX5"""	"""APL, ALL"""																																	.		Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													26.0	31.0	30.0					15																	74315583		2193	4284	6477	SO:0001819	synonymous_variant	5371			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1017C>T	15.37:g.74315583C>T		Somatic		WXS	Illumina HiSeq	Phase_I	E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Silent	SNP	ENST00000268058.3	37	CCDS10255.1																																																																																				0.692	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675	
PML	5371	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	15	74327978	74327978	+	Intron	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:74327978C>T	ENST00000268058.3	+	7	1806				PML_ENST00000569965.1_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000395135.3_Intron|PML_ENST00000268059.6_Nonsense_Mutation_p.R726*|PML_ENST00000564428.1_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000354026.6_Nonsense_Mutation_p.R678*	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CCACCGGATACGAGGGGCTGT	0.627			T	"""RARA, PAX5"""	"""APL, ALL"""																																	.		Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													59.0	62.0	61.0					15																	74327978		2198	4296	6494	SO:0001627	intron_variant	5371			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1710+1107C>T	15.37:g.74327978C>T		Somatic		WXS	Illumina HiSeq	Phase_I	E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Nonsense_Mutation	SNP	ENST00000268058.3	37	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.681459	0.68042	.	.	ENSG00000140464	ENST00000268059;ENST00000354026	.	.	.	2.93	-1.43	0.08884	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.2058	0.03935	0.1872:0.3287:0.3666:0.1176	.	.	.	.	X	726;678	.	ENSP00000268059:R726X	R	+	1	2	PML	72115031	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.282000	0.08445	-0.309000	0.08779	0.462000	0.41574	CGA		0.627	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675	
CCDC33	80125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	74554873	74554873	+	Missense_Mutation	SNP	C	C	T	rs201382754		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:74554873C>T	ENST00000398814.3	+	3	709	c.278C>T	c.(277-279)aCg>aTg	p.T93M	CCDC33_ENST00000321288.5_Missense_Mutation_p.T296M	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	296										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGGGGGGACACGGTGAATGTG	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18790	0.0		0.0	False		,,,				2504	0.0					.											0								C	MET/THR	4,4038		0,4,2017	31.0	34.0	33.0		278	3.8	1.0	15		33	0,8320		0,0,4160	yes	missense	CCDC33	NM_025055.3	81	0,4,6177	TT,TC,CC		0.0,0.099,0.0324	probably-damaging	93/756	74554873	4,12358	2021	4160	6181	SO:0001583	missense	80125			BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.278C>T	15.37:g.74554873C>T	ENSP00000381795:p.Thr93Met	Somatic		WXS	Illumina HiSeq	Phase_I	A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902160	0.52227	9.9E-4	0.0	ENSG00000140481	ENST00000321288;ENST00000398814	T;T	0.70631	-0.5;-0.5	4.67	3.75	0.43078	.	0.000000	0.38005	U	0.001850	T	0.78104	0.4231	M	0.65975	2.015	0.33452	D	0.583762	D	0.89917	1.0	D	0.66847	0.947	T	0.82020	-0.0664	10	0.48119	T	0.1	.	7.77	0.29001	0.0:0.8872:0.0:0.1128	.	93	Q8N5R6-6	.	M	296;93	ENSP00000325012:T296M;ENSP00000381795:T93M	ENSP00000325012:T296M	T	+	2	0	CCDC33	72341926	0.099000	0.21834	0.983000	0.44433	0.675000	0.39556	0.539000	0.23175	2.141000	0.66446	0.462000	0.41574	ACG		0.582	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791	
SNX33	257364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	15	75949418	75949418	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:75949418C>T	ENST00000308527.5	+	2	2784	c.1587C>T	c.(1585-1587)gcC>gcT	p.A529A		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	529	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CCCTGCAGGCCGAGATGAACC	0.627																																						.											0													99.0	82.0	88.0					15																	75949418		2197	4294	6491	SO:0001819	synonymous_variant	257364			AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.1587C>T	15.37:g.75949418C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B1NM17	Silent	SNP	ENST00000308527.5	37	CCDS10283.1																																																																																				0.627	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271	
CSPG4	1464	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	15	75980709	75980709	+	Silent	SNP	C	C	T	rs144209551		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:75980709C>T	ENST00000308508.5	-	3	2789	c.2697G>A	c.(2695-2697)gcG>gcA	p.A899A		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	899	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TGAGGACAGGCGCATCTGGGT	0.567																																						.											0								C		0,4392		0,0,2196	69.0	65.0	67.0		2697	-10.0	0.0	15	dbSNP_134	67	2,8586		0,2,4292	no	coding-synonymous	CSPG4	NM_001897.4		0,2,6488	TT,TC,CC		0.0233,0.0,0.0154		899/2323	75980709	2,12978	2196	4294	6490	SO:0001819	synonymous_variant	1464			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2697G>A	15.37:g.75980709C>T		Somatic		WXS	Illumina HiSeq	Phase_I	D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	CCDS10284.1																																																																																				0.567	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897	
TSPAN3	10099	hgsc.bcm.edu	37	15	77363263	77363263	+	Missense_Mutation	SNP	C	C	T	rs111428129	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:77363263C>T	ENST00000267970.4	-	1	307	c.34G>A	c.(34-36)Gtg>Atg	p.V12M	TSPAN3_ENST00000346495.2_Missense_Mutation_p.V12M|RP11-797A18.6_ENST00000602975.1_RNA|TSPAN3_ENST00000561277.1_Intron|TSPAN3_ENST00000558745.1_Intron|TSPAN3_ENST00000424443.3_Missense_Mutation_p.V12M|TSPAN3_ENST00000559494.1_Missense_Mutation_p.V12M|TSPAN3_ENST00000558394.1_5'UTR	NM_001168412.1|NM_005724.5|NM_198902.2	NP_001161884.1|NP_005715.1|NP_944492.1	O60637	TSN3_HUMAN	tetraspanin 3	12						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	10				all cancers(203;1.14e-19)		AAGACCAGCACGGTCTTGGAG	0.756													C|||	12	0.00239617	0.0	0.0014	5008	,	,		7377	0.0		0.0099	False		,,,				2504	0.001					.											0								C	MET/VAL,MET/VAL,MET/VAL	3,3785		0,3,1891	13.0	14.0	13.0		34,34,34	5.6	1.0	15	dbSNP_132	13	29,7105		0,29,3538	yes	missense,missense,missense	TSPAN3	NM_001168412.1,NM_005724.5,NM_198902.2	21,21,21	0,32,5429	TT,TC,CC		0.4065,0.0792,0.293	benign,benign,benign	12/190,12/254,12/229	77363263	32,10890	1894	3567	5461	SO:0001583	missense	10099				CCDS10292.1, CCDS10293.1, CCDS53963.1	15q23	2013-02-14	2005-03-21	2005-03-21	ENSG00000140391	ENSG00000140391		"""Tetraspanins"""	17752	protein-coding gene	gene with protein product		613134	"""transmembrane 4 superfamily member 8"""	TM4SF8			Standard	NM_005724		Approved	TM4-A, TSPAN-3	uc002bcj.3	O60637	OTTHUMG00000143728	ENST00000267970.4:c.34G>A	15.37:g.77363263C>T	ENSP00000267970:p.Val12Met	Somatic		WXS	Illumina HiSeq	Phase_I	A6NEH4|B3KQQ2|B4DP19|Q9BW22|Q9NVX9	Missense_Mutation	SNP	ENST00000267970.4	37	CCDS10292.1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	C	32	5.138719	0.94560	7.92E-4	0.004065	ENSG00000140391	ENST00000267970;ENST00000424443;ENST00000346495	T;T;T	0.80653	-1.4;0.53;-1.4	5.58	5.58	0.84498	.	0.392961	0.24808	N	0.035429	T	0.78566	0.4303	L	0.45137	1.4	0.80722	D	1	D;P;B	0.59357	0.985;0.535;0.368	P;B;B	0.55749	0.783;0.169;0.169	T	0.79694	-0.1696	10	0.38643	T	0.18	.	16.4874	0.84188	0.0:1.0:0.0:0.0	.	12;12;12	B4DP19;A6NEH4;O60637	.;.;TSN3_HUMAN	M	12	ENSP00000267970:V12M;ENSP00000407243:V12M;ENSP00000341329:V12M	ENSP00000267970:V12M	V	-	1	0	TSPAN3	75150318	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.131000	0.50515	2.619000	0.88677	0.563000	0.77884	GTG		0.756	TSPAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289792.3	NM_005724	
TMC3	342125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	81630237	81630237	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:81630237C>T	ENST00000359440.5	-	19	2245	c.2110G>A	c.(2110-2112)Gca>Aca	p.A704T	RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.A705T	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AGAGACCGTGCGATGCTCTGG	0.443																																						.											0													155.0	157.0	156.0					15																	81630237		2013	4183	6196	SO:0001583	missense	342125			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2110G>A	15.37:g.81630237C>T	ENSP00000352413:p.Ala704Thr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000359440.5	37	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072804	0.76415	.	.	ENSG00000188869	ENST00000359440	T	0.66280	-0.2	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	L	0.40543	1.245	0.54753	D	0.999985	D;D	0.55385	0.965;0.971	B;P	0.51833	0.411;0.681	T	0.62378	-0.6867	10	0.35671	T	0.21	-18.4032	15.8865	0.79255	0.0:1.0:0.0:0.0	.	704;704	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	T	704	ENSP00000352413:A704T	ENSP00000352413:A704T	A	-	1	0	TMC3	79417292	1.000000	0.71417	0.994000	0.49952	0.760000	0.43138	6.445000	0.73456	2.390000	0.81377	0.655000	0.94253	GCA		0.443	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841	
TMC3	342125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	81637207	81637207	+	Missense_Mutation	SNP	G	G	A	rs199835792		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:81637207G>A	ENST00000359440.5	-	13	1553	c.1418C>T	c.(1417-1419)aCc>aTc	p.T473I	RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000559277.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.T474I	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGAAATGCTGGTCTCTTCCAA	0.512																																						.											0								G	ILE/THR	0,3932		0,0,1966	118.0	113.0	115.0		1418	2.6	0.0	15		115	5,8309		0,5,4152	yes	missense	TMC3	NM_001080532.1	89	0,5,6118	AA,AG,GG		0.0601,0.0,0.0408	benign	473/1101	81637207	5,12241	1966	4157	6123	SO:0001583	missense	342125			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.1418C>T	15.37:g.81637207G>A	ENSP00000352413:p.Thr473Ile	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000359440.5	37	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	G	6.015	0.371195	0.11409	0.0	6.01E-4	ENSG00000188869	ENST00000359440	T	0.63744	-0.06	3.51	2.6	0.31112	.	1.197350	0.05767	N	0.605985	T	0.54727	0.1876	L	0.51422	1.61	0.09310	N	1	B;B	0.14438	0.0;0.01	B;B	0.14023	0.002;0.01	T	0.42749	-0.9433	10	0.41790	T	0.15	-2.3549	4.5851	0.12279	0.1137:0.0:0.6126:0.2737	.	473;473	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	I	473	ENSP00000352413:T473I	ENSP00000352413:T473I	T	-	2	0	TMC3	79424262	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	0.211000	0.17474	1.049000	0.40321	-0.136000	0.14681	ACC		0.512	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841	
ALPK3	57538	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	85403008	85403008	+	Splice_Site	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:85403008G>A	ENST00000258888.5	+	8	4740	c.4573G>A	c.(4573-4575)Gca>Aca	p.A1525T		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1525	Ig-like 2.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACTCTGCAGCGCAGGGGATGA	0.657																																						.											0													20.0	19.0	19.0					15																	85403008		2202	4297	6499	SO:0001630	splice_region_variant	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4572-1G>A	15.37:g.85403008G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006425	0.93287	.	.	ENSG00000136383	ENST00000258888	T	0.40476	1.03	5.45	5.45	0.79879	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.139747	0.49305	D	0.000153	T	0.56426	0.1984	L	0.55481	1.735	0.44268	D	0.997126	D	0.76494	0.999	D	0.66084	0.941	T	0.58476	-0.7630	10	0.87932	D	0	-6.3153	11.8267	0.52271	0.0:0.0:0.8249:0.1751	.	1525	Q96L96	ALPK3_HUMAN	T	1525	ENSP00000258888:A1525T	ENSP00000258888:A1525T	A	+	1	0	ALPK3	83204012	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.260000	0.51523	2.564000	0.86499	0.563000	0.77884	GCA		0.657	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778	Missense_Mutation
NTRK3	4916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	88420245	88420245	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:88420245C>T	ENST00000360948.2	-	19	2602	c.2441G>A	c.(2440-2442)cGg>cAg	p.R814Q	NTRK3_ENST00000394480.2_Missense_Mutation_p.R800Q|NTRK3_ENST00000557856.1_Missense_Mutation_p.R792Q|NTRK3_ENST00000355254.2_Missense_Mutation_p.R800Q|NTRK3_ENST00000357724.2_Missense_Mutation_p.R806Q	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	814	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GATGTTCAACCGCTGCTGTGG	0.547			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												.		Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	0													155.0	123.0	134.0					15																	88420245		2201	4299	6500	SO:0001583	missense	4916			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.2441G>A	15.37:g.88420245C>T	ENSP00000354207:p.Arg814Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	35	5.501625	0.96371	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254	D;D;D;D	0.98345	-4.88;-4.88;-4.88;-4.88	5.58	5.58	0.84498	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99426	0.9797	H	0.97983	4.12	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.99;1.0	D	0.98364	1.0550	10	0.87932	D	0	.	18.1313	0.89602	0.0:1.0:0.0:0.0	.	792;800;814	B7Z4C5;Q16288-3;Q16288	.;.;NTRK3_HUMAN	Q	800;814;806;800	ENSP00000377990:R800Q;ENSP00000354207:R814Q;ENSP00000350356:R806Q;ENSP00000347397:R800Q	ENSP00000347397:R800Q	R	-	2	0	NTRK3	86221249	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.636000	0.83301	2.640000	0.89533	0.561000	0.74099	CGG		0.547	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding			
NPHP4	261734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	5951002	5951002	+	Missense_Mutation	SNP	C	C	T	rs199712626		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:5951002C>T	ENST00000378156.4	-	17	2495	c.2230G>A	c.(2230-2232)Gtg>Atg	p.V744M	AL356261.1_ENST00000585151.1_RNA|NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	744					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGTCTGCACGGCCAGGTAG	0.622																																						.											0								C	MET/VAL	2,4004		0,2,2001	26.0	29.0	28.0		2230	-5.9	0.0	1		28	2,8314		0,2,4156	yes	missense	NPHP4	NM_015102.3	21	0,4,6157	TT,TC,CC		0.0241,0.0499,0.0325	benign	744/1427	5951002	4,12318	2003	4158	6161	SO:0001583	missense	261734			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.2230G>A	1.37:g.5951002C>T	ENSP00000367398:p.Val744Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	C	5.218	0.225771	0.09916	4.99E-4	2.41E-4	ENSG00000131697	ENST00000378156;ENST00000378160	D	0.87029	-2.2	5.61	-5.93	0.02254	.	1.385230	0.04696	N	0.415002	T	0.73401	0.3582	L	0.27053	0.805	0.09310	N	1	B	0.18610	0.029	B	0.15052	0.012	T	0.56697	-0.7936	10	0.46703	T	0.11	.	0.4116	0.00442	0.2859:0.1877:0.2805:0.246	.	744	O75161	NPHP4_HUMAN	M	744;147	ENSP00000367398:V744M	ENSP00000367398:V744M	V	-	1	0	NPHP4	5873589	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.832000	0.01696	-0.814000	0.04352	-2.328000	0.00250	GTG		0.622	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2		
IGF1R	3480	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	99454671	99454671	+	Splice_Site	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:99454671G>A	ENST00000268035.6	+	7	2200		c.e7+1		IGF1R_ENST00000558762.1_Splice_Site	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor						axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	ACAAGGAAGCGTGAGTTTCTG	0.537																																						.											0													158.0	141.0	147.0					15																	99454671		2197	4297	6494	SO:0001630	splice_region_variant	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1589+1G>A	15.37:g.99454671G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B1B5Y2|Q14CV2|Q9UCC0	Splice_Site	SNP	ENST00000268035.6	37	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005527	0.93287	.	.	ENSG00000140443	ENST00000268035	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1313	0.98000	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IGF1R	97272194	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.778000	0.99011	2.837000	0.97791	0.655000	0.94253	.		0.537	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875	Intron
TPSAB1	7177	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	16	1291624	1291624	+	Silent	SNP	C	C	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:1291624C>G	ENST00000338844.3	+	4	456	c.423C>G	c.(421-423)acC>acG	p.T141T	TPSAB1_ENST00000461509.2_Silent_p.T148T	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	141	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		T -> A (in dbSNP:rs1800992). {ECO:0000269|PubMed:10898108}.|T -> M (in allele alpha).		defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				ACACGGTCACCCTGCCCCCTG	0.662																																						.											0													31.0	25.0	27.0					16																	1291624		2198	4297	6495	SO:0001819	synonymous_variant	7177			M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"""tryptase alpha II"", ""tryptase beta I"", ""tryptase-I"", ""tryptase-II"", ""tryptase-III"""	191080	"""tryptase beta 1"""	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.423C>G	16.37:g.1291624C>G		Somatic		WXS	Illumina HiSeq	Phase_I	D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Silent	SNP	ENST00000338844.3	37	CCDS10431.1																																																																																				0.662	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1	NM_003294	
IFT140	9742	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	16	1574679	1574679	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:1574679G>A	ENST00000426508.2	-	24	3378	c.3015C>T	c.(3013-3015)aaC>aaT	p.N1005N	IFT140_ENST00000361339.5_Silent_p.N199N	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1005					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TTCCTGTCTCGTTGGCTATTT	0.647																																						.											0													53.0	55.0	54.0					16																	1574679		2199	4300	6499	SO:0001819	synonymous_variant	9742			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.3015C>T	16.37:g.1574679G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	CCDS10439.1																																																																																				0.647	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714	
MYH11	4629	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	16	15818057	15818057	+	Silent	SNP	G	G	A	rs369335485		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:15818057G>A	ENST00000300036.5	-	31	4435	c.4326C>T	c.(4324-4326)ctC>ctT	p.L1442L	AF001548.5_ENST00000574212.1_RNA|NDE1_ENST00000396354.1_Silent_p.T319T|NDE1_ENST00000342673.5_Silent_p.T319T|NDE1_ENST00000571896.1_3'UTR|NDE1_ENST00000396355.1_Silent_p.T319T|MYH11_ENST00000396324.3_Silent_p.L1449L|MYH11_ENST00000576790.2_Silent_p.L1442L|MYH11_ENST00000452625.2_Silent_p.L1449L	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1442					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGTTGGACACGAGTTGCCGCT	0.547			T	CBFB	AML																																	.		Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0													87.0	83.0	85.0					16																	15818057		2197	4300	6497	SO:0001819	synonymous_variant	4629			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4326C>T	16.37:g.15818057G>A		Somatic		WXS	Illumina HiSeq	Phase_I	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	CCDS10565.1																																																																																				0.547	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
NFIA	4774	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	61818215	61818215	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:61818215C>T	ENST00000403491.3	+	5	1278	c.794C>T	c.(793-795)tCt>tTt	p.S265F	NFIA_ENST00000407417.3_Missense_Mutation_p.S257F|NFIA_ENST00000371191.1_Missense_Mutation_p.S288F|NFIA_ENST00000371189.4_Missense_Mutation_p.S310F|NFIA_ENST00000371185.2_Missense_Mutation_p.S243F|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000485903.2_Missense_Mutation_p.S265F|NFIA_ENST00000371187.3_Missense_Mutation_p.S265F|NFIA_ENST00000371184.2_Intron	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	265					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						ATGAGGAGGTCTTTACCCAGC	0.433																																						.											0													99.0	97.0	97.0					1																	61818215		2203	4300	6503	SO:0001583	missense	4774			U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.794C>T	1.37:g.61818215C>T	ENSP00000384523:p.Ser265Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	SNP	ENST00000403491.3	37	CCDS44156.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838354	0.91117	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000485903;ENST00000371185;ENST00000371187	T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.85	5.85	0.93711	.	0.055720	0.85682	D	0.000000	T	0.60157	0.2247	M	0.77820	2.39	0.54753	D	0.999984	P;P;P;P	0.47191	0.785;0.891;0.82;0.867	P;P;B;B	0.46026	0.466;0.501;0.378;0.367	T	0.65368	-0.6185	10	0.72032	D	0.01	-11.0848	20.1576	0.98120	0.0:1.0:0.0:0.0	.	310;288;265;265	F8W8W3;B1AKN8;Q12857;Q12857-2	.;.;NFIA_HUMAN;.	F	288;257;310;265;265;243;265	ENSP00000360233:S288F;ENSP00000384680:S257F;ENSP00000360231:S310F;ENSP00000384523:S265F;ENSP00000419785:S265F;ENSP00000360227:S243F;ENSP00000360229:S265F	ENSP00000360227:S243F	S	+	2	0	NFIA	61590803	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.212000	0.77941	2.773000	0.95371	0.650000	0.86243	TCT		0.433	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3	NM_005595	
ITPRIPL2	162073	hgsc.bcm.edu;ucsc.edu	37	16	19126839	19126839	+	Silent	SNP	A	A	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:19126839A>C	ENST00000381440.3	+	1	1586	c.1056A>C	c.(1054-1056)gcA>gcC	p.A352A	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	352						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TGAACACAGCACGCCAGGAGC	0.652																																						.											0													35.0	40.0	39.0					16																	19126839		2196	4300	6496	SO:0001819	synonymous_variant	162073				CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"""inositol 1,4,5-triphosphate receptor interacting protein-like 2"""				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.1056A>C	16.37:g.19126839A>C		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000381440.3	37	CCDS32395.1																																																																																				0.652	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435827.3	NM_001034841	
NTHL1	4913	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	16	2093638	2093638	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:2093638C>T	ENST00000219066.1	-	4	657	c.639G>A	c.(637-639)gcG>gcA	p.A213A	NTHL1_ENST00000562951.1_5'UTR	NM_002528.5	NP_002519.1			nth endonuclease III-like 1 (E. coli)											lung(1)	1						CACCCGGCAGCGCCACCAGCT	0.627								Base excision repair (BER), DNA glycosylases																														.											0																																										SO:0001819	synonymous_variant	4913			U81285	CCDS10457.1	16p13.3	2008-02-05	2001-11-28		ENSG00000065057	ENSG00000065057			8028	protein-coding gene	gene with protein product		602656	"""nth (E.coli endonuclease III)-like 1"""			9045706, 8990169	Standard	NM_002528		Approved	NTH1, OCTS3	uc002col.1	P78549	OTTHUMG00000128744	ENST00000219066.1:c.639G>A	16.37:g.2093638C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000219066.1	37	CCDS10457.1																																																																																				0.627	NTHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250656.1	NM_002528	
UMOD	7369	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	20360337	20360337	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:20360337C>T	ENST00000570689.1	-	3	432	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	UMOD_ENST00000396142.2_Missense_Mutation_p.E96K|UMOD_ENST00000396138.4_Missense_Mutation_p.E145K|UMOD_ENST00000424589.1_Missense_Mutation_p.E129K|UMOD_ENST00000396134.2_Missense_Mutation_p.E129K|UMOD_ENST00000302509.4_Missense_Mutation_p.E96K			P07911	UROM_HUMAN	uromodulin	96	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		VCPEG -> AASC (in MCKD2). {ECO:0000269|PubMed:14531790}.		cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CGGAAGCCTTCGGGGCAGACG	0.637																																						.											0													32.0	21.0	25.0					16																	20360337		2202	4299	6501	SO:0001583	missense	7369			M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.286G>A	16.37:g.20360337C>T	ENSP00000460548:p.Glu96Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	c	8.398	0.841251	0.16891	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02	5.45	1.09	0.20402	Growth factor, receptor (1);EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.984329	0.08288	N	0.968839	T	0.80717	0.4676	N	0.25201	0.72	0.09310	N	1	P;P	0.40250	0.709;0.567	B;B	0.28784	0.094;0.065	T	0.68010	-0.5522	10	0.12766	T	0.61	-6.0448	7.0601	0.25121	0.0:0.4396:0.403:0.1574	.	129;96	E9PEA4;P07911	.;UROM_HUMAN	K	96;129;129;96;96;96	ENSP00000379438:E129K;ENSP00000416346:E129K;ENSP00000306279:E96K;ENSP00000379446:E96K	ENSP00000306279:E96K	E	-	1	0	UMOD	20267838	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.211000	0.17474	0.227000	0.20999	-0.313000	0.08912	GAA		0.637	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1		
OTOA	146183	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	21734300	21734300	+	Splice_Site	SNP	G	G	A	rs148690740		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:21734300G>A	ENST00000286149.4	+	17	1923		c.e17+1		OTOA_ENST00000388958.3_Splice_Site|OTOA_ENST00000388956.4_Splice_Site|OTOA_ENST00000388957.3_Splice_Site			Q7RTW8	OTOAN_HUMAN	otoancorin						cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CTGCACTCCCGTAAGTGAACA	0.478																																						.											0								G	,,	1,4395	2.1+/-5.4	0,1,2197	96.0	81.0	86.0		,,	4.8	1.0	16	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	splice-5,splice-5,splice-5	OTOA	NM_001161683.1,NM_144672.3,NM_170664.2	,,	0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154	,,	,,	21734300	2,12994	2198	4300	6498	SO:0001630	splice_region_variant	146183			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1922+1G>A	16.37:g.21734300G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Splice_Site	SNP	ENST00000286149.4	37		.	.	.	.	.	.	.	.	.	.	G	20.7	4.037065	0.75617	2.27E-4	1.16E-4	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6549	0.77126	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OTOA	21641801	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.715000	0.68430	2.353000	0.79882	0.655000	0.94253	.		0.478	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1		Intron
TRAF7	84231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	2226329	2226329	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:2226329G>A	ENST00000326181.6	+	20	2074	c.1942G>A	c.(1942-1944)Gcg>Acg	p.A648T		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	648					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CAGTGTCACCGCGCTGGCTGT	0.642																																						.											0													24.0	23.0	23.0					16																	2226329		2189	4297	6486	SO:0001583	missense	84231			AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"""RING-type (C3HC4) zinc fingers"", ""WD repeat domain containing"""	20456	protein-coding gene	gene with protein product		606692	"""ring finger and WD repeat domain 1"", ""TNF receptor-associated factor 7"""	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.1942G>A	16.37:g.2226329G>A	ENSP00000318944:p.Ala648Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H073	Missense_Mutation	SNP	ENST00000326181.6	37	CCDS10461.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650320	0.67472	.	.	ENSG00000131653	ENST00000326181	T	0.61510	0.1	4.99	4.99	0.66335	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.44117	0.1278	N	0.25380	0.74	0.80722	D	1	P	0.34724	0.465	B	0.28385	0.089	T	0.41270	-0.9518	10	0.35671	T	0.21	-34.4038	17.4344	0.87547	0.0:0.0:1.0:0.0	.	648	Q6Q0C0	TRAF7_HUMAN	T	648	ENSP00000318944:A648T	ENSP00000318944:A648T	A	+	1	0	TRAF7	2166330	1.000000	0.71417	0.209000	0.23619	0.664000	0.39144	8.732000	0.91534	2.599000	0.87857	0.563000	0.77884	GCG		0.642	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	NM_032271	
UQCRC2	7385	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	21968871	21968871	+	Missense_Mutation	SNP	G	G	A	rs371099781		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:21968871G>A	ENST00000268379.4	+	3	1015	c.251G>A	c.(250-252)cGt>cAt	p.R84H	UQCRC2_ENST00000561553.1_Missense_Mutation_p.R84H	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	84					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		CATTTGCTGCGTCTTACATCC	0.388																																					Colon(123;450 1645 12841 25393 45623)	.											0								G	HIS/ARG	0,4396		0,0,2198	175.0	151.0	159.0		251	5.2	1.0	16		159	1,8599	1.2+/-3.3	0,1,4299	no	missense	UQCRC2	NM_003366.2	29	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	84/454	21968871	1,12995	2198	4300	6498	SO:0001583	missense	7385			J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.251G>A	16.37:g.21968871G>A	ENSP00000268379:p.Arg84His	Somatic		WXS	Illumina HiSeq	Phase_I	B3KSN4|Q9BQ05	Missense_Mutation	SNP	ENST00000268379.4	37	CCDS10601.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633627	0.67015	0.0	1.16E-4	ENSG00000140740	ENST00000268379	T	0.17691	2.26	5.19	5.19	0.71726	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	M	0.73217	2.22	0.80722	D	1	D	0.76494	0.999	D	0.66979	0.948	T	0.31447	-0.9943	10	0.87932	D	0	-9.502	17.6661	0.88203	0.0:0.0:1.0:0.0	.	84	P22695	QCR2_HUMAN	H	84	ENSP00000268379:R84H	ENSP00000268379:R84H	R	+	2	0	UQCRC2	21876372	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	9.322000	0.96357	2.569000	0.86673	0.655000	0.94253	CGT		0.388	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254466.1	NM_003366	
CEMP1	752014	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	2580968	2580968	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:2580968C>T	ENST00000567119.1	-	1	441	c.107G>A	c.(106-108)gGc>gAc	p.G36D	CEMP1_ENST00000565480.1_Missense_Mutation_p.G36D|MIR3178_ENST00000581887.1_RNA|AMDHD2_ENST00000565570.1_3'UTR|CEMP1_ENST00000382350.1_Missense_Mutation_p.G36D|AMDHD2_ENST00000302956.4_3'UTR	NM_001048212.3	NP_001041677.1	Q6PRD7	CEMP1_HUMAN	cementum protein 1	36						cytoplasm (GO:0005737)				lung(1)|skin(1)	2						AGCTGTCTTGCCAGGGCTCCC	0.632																																						.											0													33.0	39.0	37.0					16																	2580968		2033	4178	6211	SO:0001583	missense	752014			AY584596	CCDS42108.1	16p13.3	2006-09-22							32553	protein-coding gene	gene with protein product	"""cementum protein-23"""	611113				16263347	Standard	NM_001048212		Approved	CP-23	uc002cqr.3	Q6PRD7		ENST00000567119.1:c.107G>A	16.37:g.2580968C>T	ENSP00000457380:p.Gly36Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B2RUY1	Missense_Mutation	SNP	ENST00000567119.1	37	CCDS42108.1	.	.	.	.	.	.	.	.	.	.	C	2.931	-0.220975	0.06061	.	.	ENSG00000205923	ENST00000382350	T	0.59083	0.29	1.38	-2.75	0.05914	.	.	.	.	.	T	0.30696	0.0773	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.10019	-1.0648	9	0.87932	D	0	.	3.7716	0.08643	0.0:0.2959:0.4032:0.3009	.	36	Q6PRD7	CEMP1_HUMAN	D	36	ENSP00000371787:G36D	ENSP00000371787:G36D	G	-	2	0	CEMP1	2520969	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.036000	0.13819	-1.512000	0.01791	0.561000	0.74099	GGC		0.632	CEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435686.1	NM_001048212	
PRKCB	5579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	23999859	23999859	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:23999859A>G	ENST00000321728.7	+	3	411	c.236A>G	c.(235-237)cAt>cGt	p.H79R	PRKCB_ENST00000303531.7_Missense_Mutation_p.H79R	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	79					apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	AAGCGGTGCCATGAATTTGTC	0.517																																						.											0													147.0	130.0	135.0					16																	23999859		2197	4300	6497	SO:0001583	missense	5579			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.236A>G	16.37:g.23999859A>G	ENSP00000318315:p.His79Arg	Somatic		WXS	Illumina HiSeq	Phase_I	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.522160	0.85600	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	D;D	0.93366	-3.21;-3.21	5.58	5.58	0.84498	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.96153	0.8746	M	0.75615	2.305	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.79784	0.98;0.993	D	0.96355	0.9261	10	0.62326	D	0.03	.	13.6966	0.62582	1.0:0.0:0.0:0.0	.	79;79	P05771-2;P05771	.;KPCB_HUMAN	R	79	ENSP00000318315:H79R;ENSP00000305355:H79R	ENSP00000305355:H79R	H	+	2	0	PRKCB	23907360	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.493000	0.90474	2.122000	0.65172	0.459000	0.35465	CAT		0.517	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535	
SULT1A2	6799	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	16	28603675	28603675	+	Silent	SNP	C	C	T	rs141569114	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:28603675C>T	ENST00000395630.1	-	7	1034	c.684G>A	c.(682-684)tcG>tcA	p.S228S	SULT1A2_ENST00000335715.4_Silent_p.S228S|SULT1A2_ENST00000533150.1_Silent_p.S195S	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	228					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146)			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TCTCCTTGAACGACGTGTGCT	0.552													.|||	3	0.000599042	0.0015	0.0	5008	,	,		19209	0.0		0.0	False		,,,				2504	0.001					.											0								C	,	1,4393	2.1+/-5.4	0,1,2196	215.0	187.0	197.0		684,684	-10.0	0.1	16	dbSNP_134	197	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SULT1A2	NM_001054.3,NM_177528.2	,	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	,	228/296,228/296	28603675	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	6799			U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"""Sulfotransferases, cytosolic"""	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.684G>A	16.37:g.28603675C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A9QY25|P78393|Q14CJ7	Silent	SNP	ENST00000395630.1	37	CCDS10636.1																																																																																				0.552	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109415.2	NM_001054	
DOCK7	85440	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	62979274	62979274	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:62979274T>C	ENST00000340370.5	-	32	4047	c.4030A>G	c.(4030-4032)Aaa>Gaa	p.K1344E	DOCK7_ENST00000251157.5_Missense_Mutation_p.K1375E	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1375					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AACACTTTTTTCCCCTAAAAT	0.353																																						.											0													75.0	73.0	73.0					1																	62979274		2203	4300	6503	SO:0001583	missense	85440				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.4030A>G	1.37:g.62979274T>C	ENSP00000340742:p.Lys1344Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.2|20.2	3.944363|3.944363	0.73672|0.73672	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000454575|ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	.|T;T	.|0.02216	.|4.39;4.39	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.10380|0.10380	0.0254|0.0254	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	.|B;P;P;P;P;P	.|0.52170	.|0.397;0.855;0.835;0.835;0.951;0.824	.|B;P;P;P;P;P	.|0.57548	.|0.269;0.64;0.574;0.574;0.823;0.767	T|T	0.00260|0.00260	-1.1869|-1.1869	5|10	.|0.72032	.|D	.|0.01	.|.	15.8506|15.8506	0.78927|0.78927	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1375;1375;1344;1344;1344;1375	.|Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.|DOCK7_HUMAN;.;.;.;.;.	G|E	546|1375;1375;1344;114	.|ENSP00000251157:K1375E;ENSP00000340742:K1344E	.|ENSP00000251157:K1375E	E|K	-|-	2|1	0|0	DOCK7|DOCK7	62751862|62751862	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	8.037000|8.037000	0.88933|0.88933	2.137000|2.137000	0.66172|0.66172	0.460000|0.460000	0.39030|0.39030	GAA|AAA		0.353	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407	
SRCAP	10847	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	16	30748499	30748499	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:30748499C>T	ENST00000262518.4	+	34	7523	c.7138C>T	c.(7138-7140)Cgg>Tgg	p.R2380W	SRCAP_ENST00000395059.2_Missense_Mutation_p.R2318W|SRCAP_ENST00000344771.4_Missense_Mutation_p.R2222W	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2380					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.R2380W(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGGCACCCACCGGCGCAGTAA	0.652																																						.											1	Substitution - Missense(1)	large_intestine(1)											39.0	43.0	42.0					16																	30748499		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7138C>T	16.37:g.30748499C>T	ENSP00000262518:p.Arg2380Trp	Somatic		WXS	Illumina HiSeq	Phase_I	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697016	0.48202	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.93366	-3.13;-3.19;-3.21	4.8	4.8	0.61643	.	0.000000	0.42682	D	0.000670	D	0.92450	0.7603	N	0.08118	0	0.33581	D	0.599891	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.981	D	0.95121	0.8246	10	0.72032	D	0.01	-1.144	16.865	0.86027	0.0:1.0:0.0:0.0	.	2318;2380	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	W	2380;2318;2222	ENSP00000262518:R2380W;ENSP00000378499:R2318W;ENSP00000343042:R2222W	ENSP00000262518:R2380W	R	+	1	2	SRCAP	30656000	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.762000	0.47597	2.513000	0.84729	0.558000	0.71614	CGG		0.652	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662	
ZNF263	10127	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	16	3334016	3334016	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:3334016C>T	ENST00000219069.5	+	1	1074	c.198C>T	c.(196-198)tgC>tgT	p.C66C	ZNF263_ENST00000573578.1_Silent_p.C66C|ZNF263_ENST00000538765.1_Intron|ZNF263_ENST00000574253.1_Silent_p.C66C	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	66	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						AAGAGCTTTGCCATGGGTGGC	0.632																																						.											0													54.0	59.0	57.0					16																	3334016		2197	4300	6497	SO:0001819	synonymous_variant	10127			AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.198C>T	16.37:g.3334016C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2R634|O43387|Q96H95	Silent	SNP	ENST00000219069.5	37	CCDS10499.1																																																																																				0.632	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2		
PPL	5493	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	16	4934370	4934370	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:4934370G>A	ENST00000345988.2	-	22	4375	c.4286C>T	c.(4285-4287)gCg>gTg	p.A1429V	PPL_ENST00000590782.2_Missense_Mutation_p.A1427V	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1429					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CTGCTCCAGCGCTGCCAGCCG	0.687																																						.											0													53.0	55.0	55.0					16																	4934370		2161	4247	6408	SO:0001583	missense	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4286C>T	16.37:g.4934370G>A	ENSP00000340510:p.Ala1429Val	Somatic		WXS	Illumina HiSeq	Phase_I	O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	5.476	0.272799	0.10349	.	.	ENSG00000118898	ENST00000345988	T	0.36340	1.26	5.44	-2.13	0.07144	.	0.684498	0.14258	N	0.330964	T	0.22166	0.0534	L	0.29908	0.895	0.09310	N	0.999996	B	0.09022	0.002	B	0.04013	0.001	T	0.12941	-1.0528	10	0.56958	D	0.05	.	7.0929	0.25293	0.3621:0.0:0.1348:0.5031	.	1429	O60437	PEPL_HUMAN	V	1429	ENSP00000340510:A1429V	ENSP00000340510:A1429V	A	-	2	0	PPL	4874371	0.097000	0.21791	0.000000	0.03702	0.075000	0.17131	0.914000	0.28624	-0.697000	0.05092	-0.948000	0.02665	GCG		0.687	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705	
ZNF646	9726	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	31090347	31090347	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:31090347G>A	ENST00000394979.2	+	1	3125	c.2702G>A	c.(2701-2703)cGc>cAc	p.R901H	ZNF646_ENST00000300850.5_Missense_Mutation_p.R901H			O15015	ZN646_HUMAN	zinc finger protein 646	901					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CTTCACCGGCGCCAGGCCCAC	0.652																																						.											0													25.0	28.0	27.0					16																	31090347		2197	4299	6496	SO:0001583	missense	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2702G>A	16.37:g.31090347G>A	ENSP00000378429:p.Arg901His	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37		.	.	.	.	.	.	.	.	.	.	G	18.78	3.696206	0.68386	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.33865	1.39;1.39	5.25	4.28	0.50868	.	.	.	.	.	T	0.24890	0.0604	L	0.29908	0.895	0.38415	D	0.946034	B	0.24651	0.108	B	0.18871	0.023	T	0.11084	-1.0602	9	0.59425	D	0.04	-13.1981	7.6144	0.28150	0.2539:0.0:0.7461:0.0	.	901	O15015-2	.	H	901	ENSP00000300850:R901H;ENSP00000378429:R901H	ENSP00000300850:R901H	R	+	2	0	ZNF646	30997848	0.018000	0.18449	1.000000	0.80357	0.978000	0.69477	0.214000	0.17541	1.188000	0.43014	0.563000	0.77884	CGC		0.652	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699	
ZNF423	23090	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	16	49671194	49671194	+	Silent	SNP	G	G	A	rs151294188	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:49671194G>A	ENST00000561648.1	-	4	1922	c.1869C>T	c.(1867-1869)agC>agT	p.S623S	ZNF423_ENST00000563137.2_Silent_p.S563S|ZNF423_ENST00000562520.1_Silent_p.S563S|ZNF423_ENST00000562871.1_Silent_p.S563S|ZNF423_ENST00000567169.1_Silent_p.S506S|ZNF423_ENST00000262383.2_Silent_p.S623S|ZNF423_ENST00000535559.1_Silent_p.S506S	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	623					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGGAGTTGGCGCTTGCTGAGA	0.577																																						.											0								G		1,4395	2.1+/-5.4	0,1,2197	81.0	72.0	75.0		1869	-8.6	0.0	16	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF423	NM_015069.2		0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154		623/1285	49671194	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	23090			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1869C>T	16.37:g.49671194G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	37	CCDS32445.1																																																																																				0.577	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069	
IRX6	79190	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	16	55360358	55360358	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:55360358C>T	ENST00000290552.7	+	2	1488	c.156C>T	c.(154-156)taC>taT	p.Y52Y	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	52					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						GCGCACCCTACGATAGTCGAC	0.652																																						.											0													36.0	33.0	34.0					16																	55360358		2198	4300	6498	SO:0001819	synonymous_variant	79190			AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.156C>T	16.37:g.55360358C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	37	CCDS32449.1																																																																																				0.652	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335	
FAM192A	80011	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	57188284	57188284	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:57188284G>A	ENST00000309137.8	-	7	941	c.683C>T	c.(682-684)tCa>tTa	p.S228L	FAM192A_ENST00000564108.1_Missense_Mutation_p.S228L|FAM192A_ENST00000567439.1_Missense_Mutation_p.S228L|FAM192A_ENST00000566077.1_Missense_Mutation_p.S151L|FAM192A_ENST00000389447.5_Missense_Mutation_p.S228L|FAM192A_ENST00000569266.1_Missense_Mutation_p.S228L	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	228						nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						TTCGCTGTCTGAGCTGGACTC	0.597																																						.											0													58.0	68.0	65.0					16																	57188284		2041	4200	6241	SO:0001583	missense	80011				CCDS42168.1	16q13	2009-08-19	2009-08-19	2009-08-19		ENSG00000172775			29856	protein-coding gene	gene with protein product	"""NEFA interacting nuclear protein NIP30"""		"""chromosome 16 open reading frame 94"""	C16orf94		12477932	Standard	NM_024946		Approved	NIP30	uc021tiy.1	Q9GZU8		ENST00000309137.8:c.683C>T	16.37:g.57188284G>A	ENSP00000335808:p.Ser228Leu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000309137.8	37	CCDS42168.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782533	0.70222	.	.	ENSG00000172775	ENST00000309137;ENST00000389447	.	.	.	5.25	5.25	0.73442	.	0.436913	0.24854	N	0.035075	T	0.59797	0.2220	L	0.42245	1.32	0.58432	D	0.999996	B	0.21821	0.061	B	0.24848	0.056	T	0.58736	-0.7584	9	0.72032	D	0.01	-0.3098	19.0487	0.93032	0.0:0.0:1.0:0.0	.	228	Q9GZU8	F192A_HUMAN	L	228	.	ENSP00000335808:S228L	S	-	2	0	FAM192A	55745785	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.800000	0.62524	2.724000	0.93272	0.563000	0.77884	TCA		0.597	FAM192A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433022.2	NM_024946	
ZBTB48	3104	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	6646763	6646763	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:6646763G>A	ENST00000377674.4	+	5	1211	c.1053G>A	c.(1051-1053)acG>acA	p.T351T		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	351				FT -> LP (in Ref. 1; AAA65124). {ECO:0000305}.	transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		AGGTCTTCACGTGCTCTGTGT	0.637																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)	.											0													79.0	57.0	64.0					1																	6646763		2203	4299	6502	SO:0001819	synonymous_variant	3104			BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4930	protein-coding gene	gene with protein product		165270	"""GLI-Kruppel family member HKR3"""	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.1053G>A	1.37:g.6646763G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5SY19	Silent	SNP	ENST00000377674.4	37	CCDS84.1																																																																																				0.637	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1	NM_005341	
RHBDL1	9028	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	727990	727990	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:727990G>A	ENST00000219551.2	+	7	1282	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T	STUB1_ENST00000565677.1_5'Flank|LA16c-313D11.9_ENST00000567091.1_RNA|STUB1_ENST00000219548.4_5'Flank|LA16c-313D11.9_ENST00000571933.1_RNA|RHBDL1_ENST00000352681.3_Missense_Mutation_p.A354T			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	419					signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				CCTGCTCTTCGCCGTCTTCTG	0.687																																						.											0													53.0	46.0	49.0					16																	727990		2195	4296	6491	SO:0001583	missense	9028			Y17108	CCDS61779.1	16p13.3	2008-02-05	2001-11-28	2003-04-11	ENSG00000103269	ENSG00000103269			10007	protein-coding gene	gene with protein product		603264	"""rhomboid (veinlet, Drosophila)-like"""	RHBDL		9662444	Standard	NM_001278720		Approved	RRP	uc002cis.1	O75783	OTTHUMG00000121141	ENST00000219551.2:c.1255G>A	16.37:g.727990G>A	ENSP00000219551:p.Ala419Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A2IDC0|A2IDC1|Q0VAX4|Q9NQ85	Missense_Mutation	SNP	ENST00000219551.2	37	CCDS10418.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620438	0.87460	.	.	ENSG00000103269	ENST00000352681;ENST00000219551	T;T	0.38401	1.21;1.14	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.53351	0.1791	L	0.58583	1.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.65684	0.937;0.925	T	0.54603	-0.8269	10	0.48119	T	0.1	-19.5669	14.4906	0.67647	0.0:0.0:1.0:0.0	.	419;354	O75783;O75783-2	RHBL1_HUMAN;.	T	354;419	ENSP00000344206:A354T;ENSP00000219551:A419T	ENSP00000219551:A419T	A	+	1	0	RHBDL1	667991	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.376000	0.97181	1.998000	0.58463	0.561000	0.74099	GCC		0.687	RHBDL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241619.1	NM_003961	
MSLN	10232	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	16	818456	818456	+	Silent	SNP	G	G	A	rs201466189	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:818456G>A	ENST00000382862.3	+	16	1793	c.1698G>A	c.(1696-1698)ccG>ccA	p.P566P	MSLN_ENST00000566549.1_Silent_p.P558P|MIR662_ENST00000384847.1_RNA|MSLN_ENST00000563941.1_Silent_p.P558P|MSLN_ENST00000545450.2_Silent_p.P558P	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	566					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GGCACCGCCCGGTGCGGGACT	0.687																																						.											0								G	,,	0,4354		0,0,2177	23.0	29.0	27.0		1674,1674,1698	-8.5	0.0	16		27	1,8563	1.2+/-3.3	0,1,4281	no	coding-synonymous,coding-synonymous,coding-synonymous	MSLN	NM_001177355.1,NM_005823.5,NM_013404.4	,,	0,1,6458	AA,AG,GG		0.0117,0.0,0.0077	,,	558/623,558/623,566/631	818456	1,12917	2177	4282	6459	SO:0001819	synonymous_variant	10232			U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.1698G>A	16.37:g.818456G>A		Somatic		WXS	Illumina HiSeq	Phase_I	D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Silent	SNP	ENST00000382862.3	37	CCDS32356.1																																																																																				0.687	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2		
SLC12A4	6560	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	67980419	67980419	+	Missense_Mutation	SNP	G	G	A	rs370220716		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:67980419G>A	ENST00000316341.3	-	18	2499	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W	CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000422611.2_Missense_Mutation_p.R789W|SLC12A4_ENST00000537830.2_Missense_Mutation_p.R781W|SLC12A4_ENST00000576616.1_Missense_Mutation_p.R787W|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000338335.3_Intron|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R756W|SLC12A4_ENST00000572037.1_Missense_Mutation_p.R739W	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	787					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GAGTTATGCCGCATGCCTCCC	0.652																																						.											0								G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4396		0,0,2198	56.0	57.0	57.0		2359,2365,2341,2266,2359	2.2	1.0	16		57	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense,missense	SLC12A4	NM_001145961.1,NM_001145962.1,NM_001145963.1,NM_001145964.1,NM_005072.4	101,101,101,101,101	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	787/1080,789/1088,781/1080,756/1055,787/1086	67980419	1,12993	2198	4299	6497	SO:0001583	missense	6560				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2359C>T	16.37:g.67980419G>A	ENSP00000318557:p.Arg787Trp	Somatic		WXS	Illumina HiSeq	Phase_I	B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728223	0.69074	0.0	1.16E-4	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000316341	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	4.57	2.23	0.28157	.	0.048575	0.85682	D	0.000000	D	0.94837	0.8332	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D;D	0.63046	0.989;0.986;0.992;0.992;0.992;0.986	P;P;D;P;P;P	0.63381	0.877;0.582;0.914;0.761;0.828;0.582	D	0.93878	0.7168	10	0.87932	D	0	.	11.329	0.49465	0.0:0.0:0.3051:0.6949	.	789;787;756;781;787;787	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	W	789;756;781;787	ENSP00000395983:R789W;ENSP00000438334:R756W;ENSP00000445962:R781W;ENSP00000318557:R787W	ENSP00000318557:R787W	R	-	1	2	SLC12A4	66537920	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.502000	0.53332	0.220000	0.20860	-0.262000	0.10625	CGG		0.652	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072	
USP10	9100	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	16	84778426	84778426	+	Silent	SNP	C	C	T	rs200755558	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:84778426C>T	ENST00000219473.7	+	4	452	c.339C>T	c.(337-339)atC>atT	p.I113I	USP10_ENST00000562743.1_3'UTR|USP10_ENST00000570191.1_Silent_p.I117I	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	113					autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						ATGGCTCCATCGACTGCCAGT	0.488													C|||	2	0.000399361	0.0	0.0	5008	,	,		16534	0.002		0.0	False		,,,				2504	0.0					.											0													70.0	69.0	69.0					16																	84778426		1853	4099	5952	SO:0001819	synonymous_variant	9100			D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.339C>T	16.37:g.84778426C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Silent	SNP	ENST00000219473.7	37	CCDS45537.1																																																																																				0.488	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1		
ACSF3	197322	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	16	89169104	89169104	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:89169104G>A	ENST00000317447.4	+	4	1136	c.759G>A	c.(757-759)gcG>gcA	p.A253A	ACSF3_ENST00000406948.3_Silent_p.A253A|ACSF3_ENST00000378345.4_De_novo_Start_InFrame	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	253					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TGGTCAACGCGCTGCTCTGTC	0.627																																						.											0													130.0	93.0	106.0					16																	89169104		2198	4300	6498	SO:0001819	synonymous_variant	197322			AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.759G>A	16.37:g.89169104G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Silent	SNP	ENST00000317447.4	37	CCDS10974.1	.	.	.	.	.	.	.	.	.	.	G	3.211	-0.161523	0.06502	.	.	ENSG00000176715	ENST00000543676	.	.	.	5.02	5.02	0.67125	.	0.090843	0.85682	D	0.000000	T	0.74238	0.3690	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73720	-0.3894	5	.	.	.	-30.6413	18.3267	0.90256	0.0:0.0:1.0:0.0	.	.	.	.	T	1	.	.	A	+	1	0	ACSF3	87696605	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	7.177000	0.77650	2.326000	0.78906	0.467000	0.42956	GCT		0.627	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917	
DEF8	54849	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	90020686	90020686	+	Missense_Mutation	SNP	G	G	A	rs373457887		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:90020686G>A	ENST00000268676.7	+	3	298	c.209G>A	c.(208-210)cGt>cAt	p.R70H	DEF8_ENST00000567874.1_Intron|DEF8_ENST00000563795.1_Missense_Mutation_p.R9H|DEF8_ENST00000418391.2_Missense_Mutation_p.R9H|DEF8_ENST00000570182.1_Missense_Mutation_p.R9H|DEF8_ENST00000569453.1_Missense_Mutation_p.R9H|DEF8_ENST00000563594.1_Missense_Mutation_p.R9H	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	70					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		AAGCTGGCCCGTTTCCGGCAG	0.632																																						.											0								G	HIS/ARG,,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4395	2.1+/-5.4	0,1,2197	74.0	71.0	72.0		26,,26,26,26,26,26,26,209	5.1	1.0	16		72	0,8600		0,0,4300	no	missense,intron,missense,missense,missense,missense,missense,missense,missense	DEF8	NM_001242816.1,NM_001242817.1,NM_001242818.1,NM_001242819.1,NM_001242820.1,NM_001242821.1,NM_001242822.1,NM_017702.3,NM_207514.2	29,,29,29,29,29,29,29,29	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	benign,,benign,benign,benign,benign,benign,benign,benign	9/442,,9/452,9/435,9/452,9/198,9/198,9/198,70/513	90020686	1,12995	2198	4300	6498	SO:0001583	missense	54849			AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.209G>A	16.37:g.90020686G>A	ENSP00000268676:p.Arg70His	Somatic		WXS	Illumina HiSeq	Phase_I	B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Missense_Mutation	SNP	ENST00000268676.7	37	CCDS10989.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230866	0.79688	2.27E-4	0.0	ENSG00000140995	ENST00000268676;ENST00000418391	T;T	0.50277	0.75;0.76	5.11	5.11	0.69529	.	0.412580	0.24735	N	0.036023	T	0.47451	0.1446	M	0.69823	2.125	0.38061	D	0.936082	B;B;B;P	0.35600	0.116;0.116;0.014;0.511	B;B;B;B	0.25291	0.016;0.016;0.003;0.059	T	0.60566	-0.7238	10	0.87932	D	0	-15.9482	17.6689	0.88211	0.0:0.0:1.0:0.0	.	9;9;70;9	Q6ZN54-5;Q6ZN54-3;Q6ZN54;Q6ZN54-2	.;.;DEFI8_HUMAN;.	H	70;9	ENSP00000268676:R70H;ENSP00000412784:R9H	ENSP00000268676:R70H	R	+	2	0	DEF8	88548187	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.092000	0.57707	2.538000	0.85594	0.561000	0.74099	CGT		0.632	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514	
ELAC2	60528	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	12896262	12896262	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:12896262C>T	ENST00000338034.4	-	24	2593	c.2354G>A	c.(2353-2355)cGg>cAg	p.R785Q	ELAC2_ENST00000395962.2_Missense_Mutation_p.R766Q|RP11-597M12.1_ENST00000582915.1_RNA|ELAC2_ENST00000426905.3_Missense_Mutation_p.R745Q	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	785					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CCGCAGCTCCCGCTTCTCCCT	0.647																																						.											0													53.0	56.0	55.0					17																	12896262		2203	4300	6503	SO:0001583	missense	60528			AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.2354G>A	17.37:g.12896262C>T	ENSP00000337445:p.Arg785Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	ENST00000338034.4	37	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865682	0.71949	.	.	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962	T;T;T	0.69040	0.15;-0.33;-0.37	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.82337	0.5015	M	0.79011	2.435	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D	0.83275	0.978;0.992;0.996;0.992;0.992;0.978;0.992;0.996	D	0.83997	0.0341	10	0.66056	D	0.02	-33.6924	16.9478	0.86235	0.0:1.0:0.0:0.0	.	745;768;766;583;785;545;770;413	B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9;B4DT15;Q9BQ52-3	.;.;.;.;RNZ2_HUMAN;.;.;.	Q	745;785;766	ENSP00000405223:R745Q;ENSP00000337445:R785Q;ENSP00000379291:R766Q	ENSP00000337445:R785Q	R	-	2	0	ELAC2	12836987	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.133000	0.77259	2.593000	0.87608	0.655000	0.94253	CGG		0.647	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5		
MYO15A	51168	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	18052173	18052173	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:18052173C>T	ENST00000205890.5	+	33	7201	c.6863C>T	c.(6862-6864)tCg>tTg	p.S2288L	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2288	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GACCTGGTGTCGGACCTGGAG	0.627																																						.											0													24.0	27.0	26.0					17																	18052173		2055	4201	6256	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.6863C>T	17.37:g.18052173C>T	ENSP00000205890:p.Ser2288Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	c	17.57	3.421513	0.62622	.	.	ENSG00000091536	ENST00000205890	D	0.89810	-2.57	4.48	4.48	0.54585	.	.	.	.	.	D	0.89252	0.6662	M	0.76002	2.32	0.80722	D	1	D	0.58970	0.984	P	0.45538	0.484	D	0.90609	0.4550	9	0.66056	D	0.02	.	13.1395	0.59426	0.0:0.8391:0.1609:0.0	.	2288	Q9UKN7	MYO15_HUMAN	L	2288	ENSP00000205890:S2288L	ENSP00000205890:S2288L	S	+	2	0	MYO15A	17992898	1.000000	0.71417	0.984000	0.44739	0.907000	0.53573	5.725000	0.68507	2.322000	0.78497	0.450000	0.29827	TCG		0.627	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	
SLC5A10	125206	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	17	18923133	18923133	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:18923133C>T	ENST00000395645.3	+	13	1536	c.1518C>T	c.(1516-1518)gcC>gcT	p.A506A	SLC5A10_ENST00000395643.2_Silent_p.A479A|SLC5A10_ENST00000395642.1_Silent_p.A476A|SLC5A10_ENST00000317977.6_Silent_p.A476A|SLC5A10_ENST00000417251.2_Silent_p.A470A|SLC5A10_ENST00000395647.2_Silent_p.A522A	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	506					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CGCGGCCAGCCGTCCTGGGGA	0.657																																						.											0													47.0	44.0	45.0					17																	18923133		2203	4299	6502	SO:0001819	synonymous_variant	125206				CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1518C>T	17.37:g.18923133C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Silent	SNP	ENST00000395645.3	37	CCDS42275.1																																																																																				0.657	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351	
ITGAE	3682	hgsc.bcm.edu;ucsc.edu	37	17	3649159	3649159	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:3649159G>A	ENST00000263087.4	-	18	2316	c.2218C>T	c.(2218-2220)Ctg>Ttg	p.L740L		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	740					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GAACACTGCAGCCGTCTCCTC	0.597																																					NSCLC(182;635 2928 8995 38788)	.											0													137.0	110.0	119.0					17																	3649159		2203	4300	6503	SO:0001819	synonymous_variant	3682			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.2218C>T	17.37:g.3649159G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q17RS6|Q9NZU9	Silent	SNP	ENST00000263087.4	37	CCDS32531.1																																																																																				0.597	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208	
NF1	4763	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	29653046	29653046	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:29653046T>C	ENST00000358273.4	+	37	5427	c.5044T>C	c.(5044-5046)Tgt>Cgt	p.C1682R	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.C1661R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1682	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TATCTATAACTGTAACTCCTG	0.463			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												.	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											104.0	99.0	101.0					17																	29653046		2203	4300	6503	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5044T>C	17.37:g.29653046T>C	ENSP00000351015:p.Cys1682Arg	Somatic		WXS	Illumina HiSeq	Phase_I	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.495195	0.85069	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.62498	0.02;0.02;0.02	5.63	5.63	0.86233	Cellular retinaldehyde-binding/triple function, C-terminal (2);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80071	0.4556	M	0.80028	2.48	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.996;0.998;0.99	T	0.82862	-0.0247	10	0.72032	D	0.01	.	15.0195	0.71617	0.0:0.0:0.0:1.0	.	711;1661;1682	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	R	1682;1661;1327	ENSP00000351015:C1682R;ENSP00000348498:C1661R;ENSP00000389907:C1327R	ENSP00000348498:C1661R	C	+	1	0	NF1	26677172	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.665000	0.83852	2.156000	0.67533	0.528000	0.53228	TGT		0.463	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
RAPGEFL1	51195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	38345215	38345215	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:38345215C>T	ENST00000456989.2	+	5	524	c.478C>T	c.(478-480)Cgg>Tgg	p.R160W	RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.R105W|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.R154W|RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000436615.3_Missense_Mutation_p.R105W			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	311					G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GGTGGCCTTCCGGGGCTCTGA	0.612																																					Esophageal Squamous(28;274 750 6870 14218 42203)	.											0													39.0	43.0	41.0					17																	38345215		2203	4300	6503	SO:0001583	missense	51195			AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"""Link guanine nucleotide exchange factor II"""		"""RAP guanine-nucleotide-exchange factor (GEF)-like 1"""				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.478C>T	17.37:g.38345215C>T	ENSP00000394530:p.Arg160Trp	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000456989.2	37		.	.	.	.	.	.	.	.	.	.	C	21.8	4.198133	0.79015	.	.	ENSG00000108352	ENST00000456989;ENST00000543876;ENST00000544503;ENST00000537255;ENST00000264644;ENST00000436615	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.73	4.73	0.59995	Ras guanine nucleotide exchange factor, domain (1);	0.063189	0.64402	D	0.000014	T	0.63861	0.2547	L	0.58101	1.795	0.53688	D	0.999976	D;D	0.89917	0.999;1.0	D;D	0.87578	0.96;0.998	T	0.66803	-0.5831	10	0.87932	D	0	.	12.5738	0.56352	0.3021:0.6979:0.0:0.0	.	41;311	B4DGK9;Q9UHV5	.;RPGFL_HUMAN	W	160;105;154;105;310;105	ENSP00000394530:R160W;ENSP00000440226:R105W;ENSP00000438631:R154W;ENSP00000408322:R105W	ENSP00000264644:R310W	R	+	1	2	RAPGEFL1	35598741	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.343000	0.44001	1.355000	0.45865	0.655000	0.94253	CGG		0.612	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1	NM_016339	
RARA	5914	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	17	38512460	38512460	+	Silent	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:38512460G>T	ENST00000254066.5	+	9	1826	c.1371G>T	c.(1369-1371)ccG>ccT	p.P457P	RARA_ENST00000425707.3_Silent_p.P360P|RARA_ENST00000394081.3_Silent_p.P452P|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394086.3_Silent_p.P473P|RARA_ENST00000394089.2_Silent_p.P457P	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	457					apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GAAGCAGCCCGGCCACCCACT	0.731			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL																																	.		Dom	yes		17	17q12	5914	"""retinoic acid receptor, alpha"""		L	0													2.0	2.0	2.0					17																	38512460		1439	2883	4322	SO:0001819	synonymous_variant	5914			X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"""Nuclear hormone receptors"""	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.1371G>T	17.37:g.38512460G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Silent	SNP	ENST00000254066.5	37	CCDS11366.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265831	0.23136	.	.	ENSG00000131759	ENST00000319149	.	.	.	5.24	0.475	0.16774	.	1.324360	0.05783	N	0.608960	T	0.50582	0.1624	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50600	-0.8809	6	0.72032	D	0.01	.	1.303	0.02083	0.217:0.2236:0.3994:0.1599	.	.	.	.	L	449	.	ENSP00000316769:R449L	R	+	2	0	RARA	35765986	0.183000	0.23186	0.998000	0.56505	0.986000	0.74619	-0.636000	0.05465	-0.058000	0.13177	0.561000	0.74099	CGG		0.731	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257136.2		
SMTNL2	342527	hgsc.bcm.edu;ucsc.edu	37	17	4500239	4500239	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:4500239C>T	ENST00000389313.4	+	6	1141	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L	SMTNL2_ENST00000338859.4_Silent_p.L214L	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	358	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		AGATCCTGCTCGAGTGGTGCC	0.692																																						.											0													12.0	11.0	11.0					17																	4500239		2105	4143	6248	SO:0001819	synonymous_variant	342527			AK124452	CCDS11048.1, CCDS45583.1	17p13.2	2006-04-26			ENSG00000188176	ENSG00000188176			24764	protein-coding gene	gene with protein product							Standard	NM_001114974		Approved	FLJ42461	uc002fyf.1	Q2TAL5	OTTHUMG00000132938	ENST00000389313.4:c.1074C>T	17.37:g.4500239C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZVK6	Silent	SNP	ENST00000389313.4	37	CCDS45583.1																																																																																				0.692	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439129.1	NM_198501	
NLRP1	22861	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	17	5436264	5436264	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:5436264G>A	ENST00000572272.1	-	11	3173	c.3174C>T	c.(3172-3174)tgC>tgT	p.C1058C	NLRP1_ENST00000354411.3_Silent_p.C1028C|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Silent_p.C1062C|NLRP1_ENST00000345221.3_Silent_p.C1058C|NLRP1_ENST00000577119.1_Silent_p.C1028C|NLRP1_ENST00000269280.4_Silent_p.C1058C			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1058					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GAGAAGGCACGCACAAGAGTT	0.607																																						.											0													88.0	77.0	81.0					17																	5436264		2203	4300	6503	SO:0001819	synonymous_variant	22861			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.3174C>T	17.37:g.5436264G>A		Somatic		WXS	Illumina HiSeq	Phase_I	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	ENST00000572272.1	37	CCDS42246.1																																																																																				0.607	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004	
KRT15	3866	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	17	39673348	39673348	+	Missense_Mutation	SNP	C	C	T	rs147023381		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:39673348C>T	ENST00000254043.3	-	2	4153	c.568G>A	c.(568-570)Gac>Aac	p.D190N	KRT15_ENST00000393974.3_Intron|KRT15_ENST00000393976.2_Missense_Mutation_p.D190N|KRT15_ENST00000393981.3_Intron	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	190	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				AGCCTGAAGTCGTCCGCAGCC	0.597																																						.											0								C	ASN/ASP	0,4406		0,0,2203	177.0	167.0	171.0		568	3.9	1.0	17	dbSNP_134	171	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT15	NM_002275.3	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	190/457	39673348	1,13005	2203	4300	6503	SO:0001583	missense	3866				CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.568G>A	17.37:g.39673348C>T	ENSP00000254043:p.Asp190Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	CCDS11398.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728445	0.89390	0.0	1.16E-4	ENSG00000171346	ENST00000254043;ENST00000393976	D;D	0.89746	-2.56;-2.56	4.86	3.87	0.44632	Filament (1);	0.000000	0.52532	D	0.000076	D	0.95300	0.8475	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95861	0.8883	10	0.87932	D	0	.	13.692	0.62550	0.0:0.9238:0.0:0.0762	.	190	P19012	K1C15_HUMAN	N	190	ENSP00000254043:D190N;ENSP00000377546:D190N	ENSP00000254043:D190N	D	-	1	0	KRT15	36926874	0.996000	0.38824	0.962000	0.40283	0.692000	0.40212	5.074000	0.64401	2.525000	0.85131	0.655000	0.94253	GAC		0.597	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275	
TRIM25	7706	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	54985879	54985879	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:54985879C>T	ENST00000316881.4	-	2	692	c.643G>A	c.(643-645)Ggg>Agg	p.G215R	TRIM25_ENST00000537230.1_Missense_Mutation_p.G215R	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	215	Interaction with influenza A virus NS1.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					CTCGACGCCCCGTTGATCTGA	0.582																																						.											0													149.0	107.0	121.0					17																	54985879		2203	4300	6503	SO:0001583	missense	7706			D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.643G>A	17.37:g.54985879C>T	ENSP00000323889:p.Gly215Arg	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000316881.4	37	CCDS11591.1	.	.	.	.	.	.	.	.	.	.	C	9.289	1.050020	0.19827	.	.	ENSG00000121060	ENST00000316881;ENST00000537230	T;T	0.41065	1.01;1.01	4.38	4.38	0.52667	.	0.208574	0.33753	N	0.004600	T	0.29588	0.0738	L	0.41356	1.27	0.30299	N	0.789598	B	0.32829	0.386	B	0.20184	0.028	T	0.20009	-1.0288	10	0.27082	T	0.32	.	12.7546	0.57328	0.0:1.0:0.0:0.0	.	215	Q14258	TRI25_HUMAN	R	215	ENSP00000323889:G215R;ENSP00000445961:G215R	ENSP00000323889:G215R	G	-	1	0	TRIM25	52340878	0.146000	0.22672	0.563000	0.28383	0.539000	0.34962	2.313000	0.43735	2.706000	0.92434	0.655000	0.94253	GGG		0.582	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	NM_005082	
MKS1	54903	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	17	56290442	56290442	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:56290442C>T	ENST00000393119.2	-	8	833	c.759G>A	c.(757-759)acG>acA	p.T253T	MKS1_ENST00000537529.2_Silent_p.T243T|MKS1_ENST00000337050.7_Silent_p.T253T|MKS1_ENST00000313863.6_Silent_p.T253T|MKS1_ENST00000546108.1_Silent_p.T50T	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	253					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCTCCCCCTCCGTCTCAATCC	0.562																																						.											0													70.0	72.0	71.0					17																	56290442		1937	4138	6075	SO:0001819	synonymous_variant	54903			DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.759G>A	17.37:g.56290442C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B7WNX4|F5H885|Q284T0|Q96G13	Silent	SNP	ENST00000393119.2	37	CCDS11603.2	.	.	.	.	.	.	.	.	.	.	C	1.361	-0.588849	0.03799	.	.	ENSG00000011143	ENST00000313863	.	.	.	5.69	-11.4	0.00090	.	.	.	.	.	T	0.30572	0.0769	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38672	-0.9650	4	.	.	.	-24.1711	1.1885	0.01860	0.2967:0.3287:0.1524:0.2222	.	.	.	.	Q	254	.	.	R	-	2	0	MKS1	53645441	0.000000	0.05858	0.404000	0.26397	0.178000	0.23041	-2.189000	0.01248	-2.371000	0.00602	-0.311000	0.09066	CGG		0.562	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777	
BCAS3	54828	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	17	59445725	59445725	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:59445725C>T	ENST00000390652.5	+	24	2539	c.2508C>T	c.(2506-2508)tgC>tgT	p.C836C	BCAS3_ENST00000588874.1_Silent_p.C592C|BCAS3_ENST00000588462.1_Silent_p.C836C|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000589222.1_Silent_p.C821C|BCAS3_ENST00000408905.3_Silent_p.C821C|BCAS3_ENST00000585812.1_3'UTR|BCAS3_ENST00000407086.3_Silent_p.C821C|BCAS3_ENST00000585744.1_Silent_p.C607C	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGGAGGTGTGCGGGAGCTGGC	0.642																																						.											0													78.0	89.0	85.0					17																	59445725		2139	4247	6386	SO:0001819	synonymous_variant	54828			AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.2508C>T	17.37:g.59445725C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000390652.5	37	CCDS45749.1																																																																																				0.642	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679	
TEX2	55852	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	17	62291323	62291323	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:62291323G>A	ENST00000583097.1	-	2	427	c.255C>T	c.(253-255)ccC>ccT	p.P85P	TEX2_ENST00000258991.3_Silent_p.P85P|TEX2_ENST00000584379.1_Silent_p.P85P			Q8IWB9	TEX2_HUMAN	testis expressed 2	85					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CAGGGCCGGCGGGGTCATGGC	0.577																																						.											0													144.0	144.0	144.0					17																	62291323		2203	4300	6503	SO:0001819	synonymous_variant	55852			AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.255C>T	17.37:g.62291323G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6AHZ5|Q8N3L0|Q9C0C5	Silent	SNP	ENST00000583097.1	37																																																																																					0.577	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469	
SLC16A13	201232	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	6941569	6941569	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:6941569G>A	ENST00000308027.6	+	3	750	c.442G>A	c.(442-444)Gtg>Atg	p.V148M		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	148						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						ACTGACAGGCGTGGGCCTCTC	0.642																																						.											0													77.0	81.0	80.0					17																	6941569		2203	4300	6503	SO:0001583	missense	201232			BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"""Solute carriers"""	31037	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 13"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 13"""				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.442G>A	17.37:g.6941569G>A	ENSP00000309751:p.Val148Met	Somatic		WXS	Illumina HiSeq	Phase_I	A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP	ENST00000308027.6	37	CCDS11085.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558032	0.65538	.	.	ENSG00000174327	ENST00000308027	T	0.37584	1.19	5.54	4.37	0.52481	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.212945	0.40640	N	0.001057	T	0.23886	0.0578	N	0.24115	0.695	0.45046	D	0.998069	P	0.37398	0.593	B	0.33521	0.165	T	0.06516	-1.0822	10	0.48119	T	0.1	.	12.5283	0.56100	0.095:0.0:0.905:0.0	.	148	Q7RTY0	MOT13_HUMAN	M	148	ENSP00000309751:V148M	ENSP00000309751:V148M	V	+	1	0	SLC16A13	6882293	1.000000	0.71417	0.988000	0.46212	0.914000	0.54420	4.252000	0.58785	2.602000	0.87976	0.563000	0.77884	GTG		0.642	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2		
NEURL4	84461	hgsc.bcm.edu;mdanderson.org	37	17	7228701	7228701	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:7228701G>A	ENST00000399464.2	-	8	1473	c.1458C>T	c.(1456-1458)aaC>aaT	p.N486N	NEURL4_ENST00000570460.1_Silent_p.N464N|NEURL4_ENST00000315614.7_Silent_p.N486N	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	486						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGTCACTGTGGTTGTTATTGT	0.642																																						.											0													111.0	122.0	119.0					17																	7228701		2123	4217	6340	SO:0001819	synonymous_variant	84461				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.1458C>T	17.37:g.7228701G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6GPI8|Q96IU9|Q9H0B0	Silent	SNP	ENST00000399464.2	37	CCDS42251.1																																																																																				0.642	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442	
HELZ	9931	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	65134098	65134098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:65134098G>A	ENST00000358691.5	-	22	3068	c.2902C>T	c.(2902-2904)Cga>Tga	p.R968*	HELZ_ENST00000580168.1_Nonsense_Mutation_p.R969*	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	968						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTCTTTTTTCGAAGTTCAGCA	0.378																																						.											0													202.0	205.0	204.0					17																	65134098		2079	4211	6290	SO:0001587	stop_gained	9931			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.2902C>T	17.37:g.65134098G>A	ENSP00000351524:p.Arg968*	Somatic		WXS	Illumina HiSeq	Phase_I	I6L9H4	Nonsense_Mutation	SNP	ENST00000358691.5	37	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	G	43	9.825446	0.99273	.	.	ENSG00000198265	ENST00000358691	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5631	18.8583	0.92262	0.0:0.0:1.0:0.0	.	.	.	.	X	968	.	ENSP00000351524:R968X	R	-	1	2	HELZ	62564560	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	9.476000	0.97823	2.437000	0.82529	0.655000	0.94253	CGA		0.378	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877	
RECQL5	9400	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	73626346	73626346	+	Missense_Mutation	SNP	C	C	T	rs199975622		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:73626346C>T	ENST00000317905.5	-	14	1889	c.1730G>A	c.(1729-1731)cGg>cAg	p.R577Q	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.R550Q	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	577	Interaction with POLR2A.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGCCTTGGCCCGGAGGTCAGC	0.632								Other identified genes with known or suspected DNA repair function					C|||	1	0.000199681	0.0008	0.0	5008	,	,		20052	0.0		0.0	False		,,,				2504	0.0					.											0								C	GLN/ARG	1,4217		0,1,2108	37.0	39.0	38.0		1730	-0.9	0.3	17		38	3,8465		0,3,4231	yes	missense	RECQL5	NM_004259.6	43	0,4,6339	TT,TC,CC		0.0354,0.0237,0.0315	benign	577/992	73626346	4,12682	2109	4234	6343	SO:0001583	missense	9400			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1730G>A	17.37:g.73626346C>T	ENSP00000317636:p.Arg577Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474567	0.26511	2.37E-4	3.54E-4	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.54866	0.55	5.39	-0.855	0.10700	.	0.552264	0.18297	N	0.145543	T	0.11580	0.0282	N	0.00246	-1.78	0.09310	N	0.999996	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.27640	-1.0068	10	0.15499	T	0.54	-0.663	1.7148	0.02899	0.1404:0.319:0.1278:0.4129	.	577;550	O94762;Q6P4G0	RECQ5_HUMAN;.	Q	172;577;577	ENSP00000317636:R577Q	ENSP00000317636:R577Q	R	-	2	0	RECQL5	71137941	0.002000	0.14202	0.343000	0.25615	0.582000	0.36321	-0.443000	0.06862	-0.506000	0.06558	-0.302000	0.09304	CGG		0.632	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259	
RNF157	114804	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	74157965	74157965	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:74157965G>A	ENST00000269391.6	-	10	1043	c.911C>T	c.(910-912)aCg>aTg	p.T304M	RNF157_ENST00000319945.6_Missense_Mutation_p.T304M	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	304							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GTAGCGCAGCGTGTCTGCACA	0.602																																					GBM(186;507 2120 27388 27773 52994)	.											0													132.0	117.0	122.0					17																	74157965		2203	4300	6503	SO:0001583	missense	114804			AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.911C>T	17.37:g.74157965G>A	ENSP00000269391:p.Thr304Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	37	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168123	0.94768	.	.	ENSG00000141576	ENST00000269391;ENST00000319945;ENST00000301610	T;T	0.67345	-0.26;-0.26	5.49	5.49	0.81192	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	T	0.74313	0.3700	L	0.28274	0.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.985	T	0.77313	-0.2634	10	0.72032	D	0.01	-33.4353	19.3674	0.94469	0.0:0.0:1.0:0.0	.	304;304	Q96PX1-2;Q96PX1	.;RN157_HUMAN	M	304;304;266	ENSP00000269391:T304M;ENSP00000321837:T304M	ENSP00000269391:T304M	T	-	2	0	RNF157	71669560	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.577000	0.86979	0.655000	0.94253	ACG		0.602	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732	
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	rs397516435		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCTTCCACTCGGATAAGATGC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(1)	GRCh37	CM941329	TP53	M							102.0	91.0	94.0					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*	Somatic		WXS	Illumina HiSeq	Phase_I	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
SEPT9	10801	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	17	75471796	75471796	+	Intron	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:75471796C>T	ENST00000427177.1	+	4	847				SEPT9_ENST00000592481.1_Intron|SEPT9_ENST00000590294.1_Intron|SEPT9_ENST00000329047.8_Intron|SEPT9_ENST00000591088.1_Intron|SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000423034.2_Intron|SEPT9_ENST00000592420.1_Intron|SEPT9_ENST00000427674.2_Intron|SEPT9_ENST00000427180.1_Missense_Mutation_p.R66C|SEPT9_ENST00000431235.2_Intron|SEPT9_ENST00000590917.1_Intron|RP11-75C10.9_ENST00000591110.1_RNA|SEPT9_ENST00000541152.2_Intron|SEPT9_ENST00000592951.1_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000585930.1_Intron|SEPT9_ENST00000449803.2_Intron	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9						cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			AGGAAGTCTTCGCCGGGGCAA	0.652																																						.											0													39.0	41.0	41.0					17																	75471796		1568	3582	5150	SO:0001627	intron_variant	10801			AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"""Septins"""	7323	protein-coding gene	gene with protein product	"""Ov/Br septin"""	604061	"""MLL septin-like fusion"""	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.722-6430C>T	17.37:g.75471796C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Missense_Mutation	SNP	ENST00000427177.1	37	CCDS45790.1	.	.	.	.	.	.	.	.	.	.	C	8.511	0.866491	0.17250	.	.	ENSG00000184640	ENST00000427180	T	0.54675	0.56	1.35	-0.966	0.10320	.	.	.	.	.	T	0.35008	0.0917	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.30179	-0.9987	8	0.72032	D	0.01	.	2.6267	0.04931	0.0:0.4635:0.3143:0.2222	.	66	Q9UHD8-8	.	C	66	ENSP00000415624:R66C	ENSP00000415624:R66C	R	+	1	0	SEPT9	72983391	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.942000	0.03921	-0.256000	0.09473	0.297000	0.19635	CGC		0.652	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640	
CHD3	1107	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	7814222	7814222	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:7814222G>A	ENST00000330494.7	+	39	5962	c.5812G>A	c.(5812-5814)Gca>Aca	p.A1938T	CHD3_ENST00000358181.4_Missense_Mutation_p.A1904T|CHD3_ENST00000380358.4_Missense_Mutation_p.A1997T|AC025335.1_ENST00000324348.7_RNA	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1938	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CTTCAGCGCCGCACCCGTAGG	0.627																																						.											0													61.0	72.0	68.0					17																	7814222		2203	4299	6502	SO:0001583	missense	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.5812G>A	17.37:g.7814222G>A	ENSP00000332628:p.Ala1938Thr	Somatic		WXS	Illumina HiSeq	Phase_I	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	CCDS32554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.87|11.87	1.767540|1.767540	0.31320|0.31320	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494|ENST00000439235;ENST00000449744	D;D;D|.	0.90385|.	-2.66;-2.59;-2.59|.	5.05|5.05	3.02|3.02	0.34903|0.34903	.|.	0.000000|.	0.42821|.	D|.	0.000656|.	T|T	0.32912|0.32912	0.0845|0.0845	N|N	0.14661|0.14661	0.345|0.345	0.33703|0.33703	D|D	0.614842|0.614842	B;B;B;B;B|.	0.11235|.	0.003;0.004;0.0;0.0;0.002|.	B;B;B;B;B|.	0.04013|.	0.001;0.001;0.001;0.0;0.001|.	T|T	0.47341|0.47341	-0.9125|-0.9125	10|6	0.20519|0.56958	T|D	0.43|0.05	-6.0176|-6.0176	6.1389|6.1389	0.20249|0.20249	0.3916:0.0:0.6084:0.0|0.3916:0.0:0.6084:0.0	.|.	917;515;1904;1938;1997|.	B4DLC6;B3KWV4;Q12873-2;Q12873;E9PG89|.	.;.;.;CHD3_HUMAN;.|.	T|H	1997;1904;1938|281;175	ENSP00000369716:A1997T;ENSP00000350907:A1904T;ENSP00000332628:A1938T|.	ENSP00000332628:A1938T|ENSP00000395252:R281H	A|R	+|+	1|2	0|0	CHD3|CHD3	7754947|7754947	0.705000|0.705000	0.27846|0.27846	1.000000|1.000000	0.80357|0.80357	0.939000|0.939000	0.58152|0.58152	2.108000|2.108000	0.41854|0.41854	1.358000|1.358000	0.45922|0.45922	0.604000|0.604000	0.83254|0.83254	GCA|CGC		0.627	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273	
TNRC6C	57690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	76071339	76071339	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:76071339C>T	ENST00000588061.1	+	10	3767	c.3040C>T	c.(3040-3042)Cgc>Tgc	p.R1014C	TNRC6C_ENST00000588847.1_Missense_Mutation_p.R1011C|TNRC6C_ENST00000301624.4_Missense_Mutation_p.R1014C|TNRC6C_ENST00000541771.1_Missense_Mutation_p.R1014C|TNRC6C_ENST00000544502.1_Missense_Mutation_p.R1011C|TNRC6C_ENST00000335749.4_Missense_Mutation_p.R1011C			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1014					embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TTCCGTGGACCGCCCCACCTT	0.507																																						.											0													18.0	20.0	19.0					17																	76071339		1866	4088	5954	SO:0001583	missense	57690			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.3040C>T	17.37:g.76071339C>T	ENSP00000468647:p.Arg1014Cys	Somatic		WXS	Illumina HiSeq	Phase_I	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875961	0.91664	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.17691	2.27;2.26;2.26;2.27	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.41096	0.1144	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.996	T	0.03184	-1.1063	10	0.54805	T	0.06	-13.682	20.1707	0.98158	0.0:1.0:0.0:0.0	.	1011;1014;1014	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	C	1014;1011;1011;1014;1014;1011	ENSP00000336783:R1011C;ENSP00000301624:R1014C;ENSP00000440310:R1014C;ENSP00000442421:R1011C	ENSP00000301624:R1014C	R	+	1	0	TNRC6C	73582934	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.226000	0.65299	2.773000	0.95371	0.655000	0.94253	CGC		0.507	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996	
RNF213	57674	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	17	78320904	78320904	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:78320904C>T	ENST00000582970.1	+	29	8912	c.8769C>T	c.(8767-8769)ctC>ctT	p.L2923L	RNF213_ENST00000508628.2_Silent_p.L2972L|RNF213_ENST00000336301.6_Silent_p.L996L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2923					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAGACATCCTCGTCCAGGACC	0.557																																						.											0													60.0	53.0	55.0					17																	78320904		2203	4300	6503	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.8769C>T	17.37:g.78320904C>T		Somatic		WXS	Illumina HiSeq	Phase_I	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	CCDS58606.1																																																																																				0.557	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	
SLC38A10	124565	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	17	79226231	79226231	+	Missense_Mutation	SNP	G	G	A	rs376751634		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:79226231G>A	ENST00000374759.3	-	13	2092	c.1709C>T	c.(1708-1710)gCg>gTg	p.A570V	SLC38A10_ENST00000288439.5_Missense_Mutation_p.A570V	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	570					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AAGATCACCCGCCTCCTCCAA	0.622																																						.											0									VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	47.0	53.0	51.0		1709,1709	-4.2	0.0	17		51	0,8600		0,0,4300	no	missense,missense	SLC38A10	NM_001037984.1,NM_138570.2	64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	570/1120,570/781	79226231	1,13005	2203	4300	6503	SO:0001583	missense	124565			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.1709C>T	17.37:g.79226231G>A	ENSP00000363891:p.Ala570Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	ENST00000374759.3	37	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	G	4.717	0.133407	0.09032	2.27E-4	0.0	ENSG00000157637	ENST00000374759;ENST00000288439	T;T	0.09630	3.21;2.96	3.57	-4.19	0.03835	.	1376.610000	0.00166	N	0.000000	T	0.06325	0.0163	N	0.11255	0.115	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.06405	0.002;0.001	T	0.34725	-0.9817	10	0.22109	T	0.4	-0.1859	10.2033	0.43099	0.5972:0.0:0.4028:0.0	.	570;570	Q9HBR0-2;Q9HBR0	.;S38AA_HUMAN	V	570	ENSP00000363891:A570V;ENSP00000288439:A570V	ENSP00000288439:A570V	A	-	2	0	SLC38A10	76840826	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-0.578000	0.05841	-0.783000	0.04534	-0.760000	0.03462	GCG		0.622	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570	
C17orf70	80233	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	17	79512906	79512906	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:79512906C>T	ENST00000327787.8	-	6	2222	c.2176G>A	c.(2176-2178)Gtg>Atg	p.V726M	C17orf70_ENST00000425898.2_Missense_Mutation_p.V375M|C17orf70_ENST00000537152.1_Missense_Mutation_p.V575M			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	726					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CACAGGGGCACGCCTGGAGGG	0.642																																						.											0													39.0	31.0	34.0					17																	79512906		2199	4300	6499	SO:0001583	missense	80233			BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.2176G>A	17.37:g.79512906C>T	ENSP00000333283:p.Val726Met	Somatic		WXS	Illumina HiSeq	Phase_I	A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	ENST00000327787.8	37	CCDS32765.2	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930341	0.52866	.	.	ENSG00000185504	ENST00000327787;ENST00000425898;ENST00000361039;ENST00000537152	T;T;T	0.35421	1.31;1.31;1.31	4.41	-1.67	0.08238	.	1.397600	0.05224	N	0.509143	T	0.32010	0.0815	L	0.44542	1.39	0.09310	N	1	D;D	0.57571	0.98;0.98	B;P	0.48598	0.407;0.583	T	0.19877	-1.0292	10	0.39692	T	0.17	-4.1034	1.4826	0.02440	0.1482:0.4547:0.136:0.2612	.	726;375	Q0VG06;E7EVV8	FP100_HUMAN;.	M	726;375;99;575	ENSP00000333283:V726M;ENSP00000399674:V375M;ENSP00000440151:V575M	ENSP00000333283:V726M	V	-	1	0	C17orf70	77123359	0.000000	0.05858	0.000000	0.03702	0.242000	0.25591	-0.558000	0.05978	-0.283000	0.09115	-0.304000	0.09214	GTG		0.642	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161	
HGS	9146	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	79663491	79663491	+	Missense_Mutation	SNP	G	G	A	rs567318549		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:79663491G>A	ENST00000329138.4	+	16	1633	c.1498G>A	c.(1498-1500)Gag>Aag	p.E500K		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	500	Interaction with NF2.|Interaction with SNAP25 and TRAK2. {ECO:0000250}.|Interaction with SNX1. {ECO:0000250}.|Interaction with STAM1. {ECO:0000250}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CCGGGCAGCCGAGGAGGCAGA	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		14536	0.0		0.0	False		,,,				2504	0.001					.											0													10.0	13.0	12.0					17																	79663491		2176	4273	6449	SO:0001583	missense	9146			D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.1498G>A	17.37:g.79663491G>A	ENSP00000331201:p.Glu500Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NR36	Missense_Mutation	SNP	ENST00000329138.4	37	CCDS11784.1	.	.	.	.	.	.	.	.	.	.	G	35	5.497274	0.96355	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.04706	3.57	4.42	4.42	0.53409	Hepatocyte growth factor-regulated tyrosine kinase substrate, helical domain (1);	0.000000	0.85682	D	0.000000	T	0.17704	0.0425	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.00636	-1.1633	10	0.51188	T	0.08	-37.8227	16.3585	0.83245	0.0:0.0:1.0:0.0	.	500	O14964	HGS_HUMAN	K	500	ENSP00000331201:E500K	ENSP00000331201:E500K	E	+	1	0	HGS	77273896	1.000000	0.71417	0.954000	0.39281	0.992000	0.81027	9.099000	0.94207	2.164000	0.68074	0.549000	0.68633	GAG		0.687	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712	
FUBP1	8880	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	78428480	78428480	+	Missense_Mutation	SNP	C	C	T	rs569795654		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:78428480C>T	ENST00000370768.2	-	14	1400	c.1319G>A	c.(1318-1320)cGg>cAg	p.R440Q	FUBP1_ENST00000370767.1_Missense_Mutation_p.R440Q|FUBP1_ENST00000436586.2_Missense_Mutation_p.R461Q	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	440	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TATGAGTTGCCGAGCATAGTC	0.343			"""F, N"""		oligodendroglioma								C|||	1	0.000199681	0.0	0.0	5008	,	,		18337	0.0		0.0	False		,,,				2504	0.001					.		Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	0													102.0	98.0	99.0					1																	78428480		2202	4300	6502	SO:0001583	missense	8880			U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1319G>A	1.37:g.78428480C>T	ENSP00000359804:p.Arg440Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q12828	Missense_Mutation	SNP	ENST00000370768.2	37	CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629104	0.67015	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	T;T;T	0.30981	1.51;1.51;1.51	5.63	4.72	0.59763	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.11665	0.0284	N	0.20685	0.6	0.58432	D	0.999999	P;P	0.51537	0.946;0.6	P;B	0.47430	0.547;0.144	T	0.02885	-1.1098	10	0.07990	T	0.79	-13.7264	14.6631	0.68888	0.0:0.9301:0.0:0.0699	.	461;440	B4DT31;Q96AE4	.;FUBP1_HUMAN	Q	439;440;440;439;461	ENSP00000359803:R440Q;ENSP00000359804:R440Q;ENSP00000389536:R461Q	ENSP00000294623:R439Q	R	-	2	0	FUBP1	78201068	1.000000	0.71417	0.997000	0.53966	0.014000	0.08584	7.773000	0.85462	1.531000	0.49152	0.650000	0.86243	CGG		0.343	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902	
USP14	9097	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	18	198072	198072	+	Missense_Mutation	SNP	C	C	T	rs199949125		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:198072C>T	ENST00000261601.7	+	9	792	c.701C>T	c.(700-702)gCg>gTg	p.A234V	USP14_ENST00000400266.3_Missense_Mutation_p.A223V|USP14_ENST00000582707.1_Missense_Mutation_p.A199V|USP14_ENST00000383589.2_Missense_Mutation_p.A188V	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	234	USP.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				GCATCGGCAGCGACACCTTCT	0.333													C|||	1	0.000199681	0.0	0.0	5008	,	,		14356	0.001		0.0	False		,,,				2504	0.0					.											0													58.0	60.0	59.0					18																	198072		2203	4300	6503	SO:0001583	missense	9097			U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"""Ubiquitin-specific peptidases"""	12612	protein-coding gene	gene with protein product		607274	"""ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"""			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.701C>T	18.37:g.198072C>T	ENSP00000261601:p.Ala234Val	Somatic		WXS	Illumina HiSeq	Phase_I	J3QRZ5|Q53XY5	Missense_Mutation	SNP	ENST00000261601.7	37	CCDS32780.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.068	0.567778	0.13560	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	T;T	0.31247	1.5;1.5	6.17	1.12	0.20585	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.254724	0.44902	N	0.000410	T	0.13157	0.0319	N	0.19112	0.55	0.44728	D	0.997725	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.09377	0.003;0.004;0.003	T	0.14559	-1.0468	10	0.09084	T	0.74	-5.7672	3.78	0.08677	0.1964:0.4519:0.0:0.3516	.	223;199;234	B7Z4N8;A6NJA2;P54578	.;.;UBP14_HUMAN	V	234;199;223	ENSP00000261601:A234V;ENSP00000383125:A223V	ENSP00000261601:A234V	A	+	2	0	USP14	188072	0.165000	0.22948	0.949000	0.38748	0.530000	0.34684	0.732000	0.26072	0.190000	0.20209	-0.302000	0.09304	GCG		0.333	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151	
NDC80	10403	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	18	2610781	2610781	+	Missense_Mutation	SNP	C	C	T	rs536241153		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:2610781C>T	ENST00000261597.4	+	16	1894	c.1712C>T	c.(1711-1713)aCg>aTg	p.T571M		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	571	Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						GTGCAAACCACGACTGAAGAA	0.388													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16274	0.0		0.0	False		,,,				2504	0.0					.											0													188.0	173.0	178.0					18																	2610781		2203	4300	6503	SO:0001583	missense	10403			AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"""highly expressed in cancer, rich in leucine heptad repeats (yeast)"", ""kinetochore associated 2"", ""NDC80 kinetochore complex component homolog (S. cerevisiae)"""	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.1712C>T	18.37:g.2610781C>T	ENSP00000261597:p.Thr571Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q6PJX2	Missense_Mutation	SNP	ENST00000261597.4	37	CCDS11827.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.611199	0.28712	.	.	ENSG00000080986	ENST00000261597	T	0.50001	0.76	5.34	5.34	0.76211	.	0.045740	0.85682	D	0.000000	T	0.65821	0.2728	M	0.66939	2.045	0.53688	D	0.999977	D	0.89917	1.0	D	0.69479	0.964	T	0.61589	-0.7032	10	0.27785	T	0.31	-12.0354	17.7979	0.88578	0.0:1.0:0.0:0.0	.	571	O14777	NDC80_HUMAN	M	571	ENSP00000261597:T571M	ENSP00000261597:T571M	T	+	2	0	NDC80	2600781	1.000000	0.71417	1.000000	0.80357	0.043000	0.13939	4.732000	0.62029	2.500000	0.84329	0.585000	0.79938	ACG		0.388	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1	NM_006101	
LAMA3	3909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	18	21474920	21474920	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:21474920C>T	ENST00000313654.9	+	44	5752	c.5511C>T	c.(5509-5511)ggC>ggT	p.G1837G	LAMA3_ENST00000269217.6_Silent_p.G228G|LAMA3_ENST00000587184.1_Silent_p.G228G|LAMA3_ENST00000399516.3_Silent_p.G1837G|AC010754.1_ENST00000408462.1_RNA	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1837	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CCACCATGGGCGAGCAGCTCC	0.622																																						.											0													54.0	46.0	49.0					18																	21474920		2203	4300	6503	SO:0001819	synonymous_variant	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.5511C>T	18.37:g.21474920C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	CCDS42419.1																																																																																				0.622	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	
DSG4	147409	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	18	28972125	28972125	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:28972125C>T	ENST00000308128.4	+	8	962	c.827C>T	c.(826-828)gCc>gTc	p.A276V	DSG4_ENST00000359747.4_Missense_Mutation_p.A276V|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	276	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.		Missing (in HYPT6). {ECO:0000269|PubMed:12705872, ECO:0000269|PubMed:15191570}.		anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TAGTACTCAGCCAGTATTGAA	0.294																																						.											0													99.0	99.0	99.0					18																	28972125		2203	4300	6503	SO:0001583	missense	147409			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.827C>T	18.37:g.28972125C>T	ENSP00000311859:p.Ala276Val	Somatic		WXS	Illumina HiSeq	Phase_I	A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.400614	0.42613	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.52295	0.67;0.67	5.66	5.66	0.87406	Cadherin (4);Cadherin-like (1);	0.000000	0.34603	N	0.003836	T	0.31389	0.0795	N	0.17082	0.46	0.39001	D	0.959358	B;B	0.33379	0.207;0.41	B;B	0.37091	0.219;0.241	T	0.17228	-1.0376	10	0.15499	T	0.54	.	10.5213	0.44920	0.0:0.856:0.0:0.144	.	276;276	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	V	276	ENSP00000311859:A276V;ENSP00000352785:A276V	ENSP00000311859:A276V	A	+	2	0	DSG4	27226123	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.728000	0.47319	2.830000	0.97506	0.655000	0.94253	GCC		0.294	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986	
LOXHD1	125336	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	18	44057528	44057528	+	Intron	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:44057528G>A	ENST00000398722.4	-	34	5806				LOXHD1_ENST00000536736.1_Silent_p.S2181S|LOXHD1_ENST00000441893.2_Silent_p.S1114S|LOXHD1_ENST00000300591.6_Intron|LOXHD1_ENST00000441551.2_Silent_p.S2037S|LOXHD1_ENST00000398705.2_Intron|LOXHD1_ENST00000398686.4_Silent_p.S482S|LOXHD1_ENST00000582408.1_Silent_p.S1070S|LOXHD1_ENST00000579038.1_Intron			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1						calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)			NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						CCACGCCGGTGCTGGTGTTGG	0.632																																						.											0													26.0	30.0	29.0					18																	44057528		692	1591	2283	SO:0001627	intron_variant	125336			AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.5806+88C>T	18.37:g.44057528G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Silent	SNP	ENST00000398722.4	37																																																																																					0.632	LOXHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_144612	
TCEB3B	51224	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	18	44561229	44561229	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:44561229G>T	ENST00000332567.4	-	1	759	c.407C>A	c.(406-408)cCt>cAt	p.P136H	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	136					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTGCCCCGGAGGTGTTCTGCG	0.632																																						.											0													56.0	65.0	62.0					18																	44561229		2203	4294	6497	SO:0001583	missense	51224			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.407C>A	18.37:g.44561229G>T	ENSP00000331302:p.Pro136His	Somatic		WXS	Illumina HiSeq	Phase_I	Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	g	5.687	0.311323	0.10789	.	.	ENSG00000206181	ENST00000332567	T	0.07021	3.23	2.74	-5.48	0.02592	.	2.324160	0.02057	N	0.050446	T	0.16599	0.0399	L	0.47716	1.5	0.09310	N	1	D	0.89917	1.0	D	0.73708	0.981	T	0.40098	-0.9581	10	0.15499	T	0.54	-0.0466	6.1248	0.20174	0.3003:0.372:0.3277:0.0	.	136	Q8IYF1	ELOA2_HUMAN	H	136	ENSP00000331302:P136H	ENSP00000331302:P136H	P	-	2	0	TCEB3B	42815227	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.530000	0.02221	-2.758000	0.00371	-1.335000	0.01260	CCT		0.632	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427	
CTIF	9811	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	18	46146071	46146071	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:46146071G>A	ENST00000256413.3	+	2	430	c.135G>A	c.(133-135)acG>acA	p.T45T	CTIF_ENST00000382998.4_Silent_p.T45T	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	45	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CTGACAAGACGGAGGGTGATG	0.652																																						.											0													37.0	28.0	31.0					18																	46146071		2201	4299	6500	SO:0001819	synonymous_variant	9811			AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.135G>A	18.37:g.46146071G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B3KTR8|Q8IVD5	Silent	SNP	ENST00000256413.3	37	CCDS11935.1																																																																																				0.652	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772	
WDR7	23335	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	18	54591323	54591323	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:54591323G>A	ENST00000254442.3	+	22	3908	c.3697G>A	c.(3697-3699)Gag>Aag	p.E1233K	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.E1200K	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1233					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGCCGATGCCGAGAAACAACT	0.428																																						.											0													184.0	171.0	176.0					18																	54591323		2203	4300	6503	SO:0001583	missense	23335			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3697G>A	18.37:g.54591323G>A	ENSP00000254442:p.Glu1233Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869877	0.91587	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.69806	-0.43;2.64	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.73016	0.3533	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.972	T	0.71248	-0.4649	10	0.33141	T	0.24	.	18.869	0.92305	0.0:0.0:1.0:0.0	.	1200;1233	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	K	1233;1200;558;1200	ENSP00000254442:E1233K;ENSP00000350187:E1200K	ENSP00000254442:E1233K	E	+	1	0	WDR7	52742321	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	9.438000	0.97539	2.553000	0.86117	0.591000	0.81541	GAG		0.428	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1		
NFATC1	4772	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	77170445	77170445	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:77170445C>T	ENST00000427363.2	+	2	170	c.170C>T	c.(169-171)cCg>cTg	p.P57L	NFATC1_ENST00000591814.1_Missense_Mutation_p.P57L|NFATC1_ENST00000542384.1_Missense_Mutation_p.P57L|NFATC1_ENST00000329101.4_Missense_Mutation_p.P44L|NFATC1_ENST00000592223.1_Missense_Mutation_p.P44L|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000586434.1_Missense_Mutation_p.P44L|NFATC1_ENST00000587635.1_Missense_Mutation_p.P57L|NFATC1_ENST00000318065.5_Missense_Mutation_p.P44L|NFATC1_ENST00000253506.5_Missense_Mutation_p.P57L			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	57					calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CCCGCCCTGCCGCTCCCCACG	0.632																																					GBM(151;1210 2593 28719 45011)	.											0													66.0	78.0	74.0					18																	77170445		2203	4299	6502	SO:0001583	missense	4772			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.170C>T	18.37:g.77170445C>T	ENSP00000389377:p.Pro57Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37		.	.	.	.	.	.	.	.	.	.	C	14.76	2.632325	0.46944	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.48836	0.8;0.8;0.8	4.39	3.51	0.40186	.	0.394001	0.26824	N	0.022317	T	0.57710	0.2072	M	0.65498	2.005	0.80722	D	1	D;D;D;D;D;D;D	0.69078	0.995;0.992;0.963;0.992;0.992;0.997;0.979	P;B;B;P;P;P;B	0.52881	0.712;0.44;0.238;0.559;0.559;0.559;0.319	T	0.64997	-0.6275	10	0.87932	D	0	-22.4283	14.4591	0.67438	0.0:0.8519:0.1481:0.0	.	44;44;57;57;57;44;57	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	L	57;57;57;44;44;21	ENSP00000253506:P57L;ENSP00000442435:P57L;ENSP00000327850:P44L	ENSP00000253506:P57L	P	+	2	0	NFATC1	75271433	0.996000	0.38824	0.023000	0.16930	0.004000	0.04260	3.399000	0.52586	1.054000	0.40438	-0.264000	0.10439	CCG		0.632	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390	
ICAM4	3386	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	10398019	10398019	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:10398019G>A	ENST00000380770.3	+	1	377	c.331G>A	c.(331-333)Gcg>Acg	p.A111T	CTD-2369P2.8_ENST00000589379.1_RNA|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM5_ENST00000221980.4_5'Flank|ICAM4_ENST00000340992.4_Missense_Mutation_p.A111T|ICAM4_ENST00000393717.2_Missense_Mutation_p.A111T	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	111	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GAGCTCCCTCGCGCACTGCCT	0.677																																						.											0													20.0	21.0	20.0					19																	10398019		2203	4300	6503	SO:0001583	missense	3386			X93093	CCDS12232.1, CCDS32904.1, CCDS42500.1	19p13.2	2014-07-19	2006-02-23		ENSG00000105371	ENSG00000105371		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5347	protein-coding gene	gene with protein product		614088	"""intercellular adhesion molecule 4, Landsteiner-Wiener blood group"", ""Landsteiner-Wiener blood group"", ""intercellular adhesion molecule 4 (LW blood group)"""	LW		8639917, 6431896	Standard	NM_001039132		Approved	CD242	uc002mnr.2	Q14773	OTTHUMG00000180405	ENST00000380770.3:c.331G>A	19.37:g.10398019G>A	ENSP00000370147:p.Ala111Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A0M8X2|Q14771|Q14772|Q16375|Q9BWR0	Missense_Mutation	SNP	ENST00000380770.3	37	CCDS12232.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419667	0.25552	.	.	ENSG00000105371	ENST00000340992;ENST00000380770;ENST00000393717	T;T;T	0.21932	1.98;1.98;1.98	4.18	4.18	0.49190	Intercellular adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	0.677075	0.13608	N	0.375336	T	0.20007	0.0481	N	0.22421	0.69	0.09310	N	1	D;D;D	0.57899	0.981;0.958;0.977	B;B;P	0.49047	0.356;0.353;0.599	T	0.06789	-1.0807	10	0.34782	T	0.22	-1.6884	11.8729	0.52531	0.0:0.0:1.0:0.0	.	111;111;111	Q14773-2;Q14773;Q9BWR0	.;ICAM4_HUMAN;.	T	111	ENSP00000342114:A111T;ENSP00000370147:A111T;ENSP00000377320:A111T	ENSP00000342114:A111T	A	+	1	0	ICAM4	10259019	0.125000	0.22332	0.004000	0.12327	0.006000	0.05464	4.235000	0.58666	2.162000	0.67917	0.491000	0.48974	GCG		0.677	ICAM4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451214.1	NM_001544	
ILF3	3609	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	10794618	10794618	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:10794618C>T	ENST00000590261.1	+	16	2031	c.2031C>T	c.(2029-2031)taC>taT	p.Y677Y	ILF3_ENST00000588657.1_Silent_p.Y681Y|ILF3_ENST00000407004.3_Silent_p.Y681Y|ILF3_ENST00000589998.1_Silent_p.Y677Y|ILF3_ENST00000449870.1_Silent_p.Y681Y|ILF3_ENST00000592763.1_Silent_p.Y681Y|ILF3_ENST00000250241.8_Silent_p.Y677Y|ILF3_ENST00000420083.1_Silent_p.Y677Y|ILF3_ENST00000318511.3_Silent_p.Y677Y			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	677	Interaction with PRMT1.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GCTATGGGTACGGAGGCAACT	0.582																																						.											0													169.0	139.0	149.0					19																	10794618		2203	4300	6503	SO:0001819	synonymous_variant	3609			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.2031C>T	19.37:g.10794618C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Silent	SNP	ENST00000590261.1	37	CCDS12246.1																																																																																				0.582	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1		
SBNO2	22904	hgsc.bcm.edu;mdanderson.org	37	19	1116900	1116900	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:1116900G>A	ENST00000361757.3	-	16	1967	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M	SBNO2_ENST00000587024.1_Missense_Mutation_p.T567M|SBNO2_ENST00000438103.2_Missense_Mutation_p.T520M	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	577					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCTCGCCCGTGGACTGCAG	0.677																																						.											0																																										SO:0001583	missense	22904			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.1730C>T	19.37:g.1116900G>A	ENSP00000354733:p.Thr577Met	Somatic		WXS	Illumina HiSeq	Phase_I	A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609753	0.87258	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	T;T	0.37058	1.22;1.22	4.18	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.67655	0.2916	M	0.91612	3.225	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.77259	-0.2654	10	0.87932	D	0	-21.2277	16.0091	0.80385	0.0:0.0:1.0:0.0	.	577;577;520	B4DV91;Q9Y2G9;Q9Y2G9-3	.;SBNO2_HUMAN;.	M	577;520;601	ENSP00000354733:T577M;ENSP00000400762:T520M	ENSP00000250872:T601M	T	-	2	0	SBNO2	1067900	1.000000	0.71417	0.937000	0.37676	0.824000	0.46624	9.372000	0.97165	2.320000	0.78422	0.563000	0.77884	ACG		0.677	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963	
QTRT1	81890	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	10818003	10818003	+	Silent	SNP	C	C	T	rs151104617		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:10818003C>T	ENST00000250237.5	+	4	487	c.477C>T	c.(475-477)gaC>gaT	p.D159D	QTRT1_ENST00000585885.1_3'UTR	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	159					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)			TGCAGCTGGACGACGTGGTTA	0.567																																						.											0								C		1,4405	2.1+/-5.4	0,1,2202	334.0	247.0	277.0		477	-3.2	0.3	19	dbSNP_134	277	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	QTRT1	NM_031209.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		159/404	10818003	2,13004	2203	4300	6503	SO:0001819	synonymous_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.477C>T	19.37:g.10818003C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DFM7|Q96BQ4|Q9BXQ9	Silent	SNP	ENST00000250237.5	37	CCDS12248.1																																																																																				0.567	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1	NM_031209	
TMEM205	374882	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	11453630	11453630	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:11453630C>T	ENST00000354882.5	-	3	857	c.431G>A	c.(430-432)cGa>cAa	p.R144Q	TMEM205_ENST00000586218.1_Missense_Mutation_p.R83Q|TMEM205_ENST00000447337.1_Missense_Mutation_p.R144Q|RAB3D_ENST00000589655.1_Intron|TMEM205_ENST00000586956.1_Missense_Mutation_p.R144Q|TMEM205_ENST00000587948.1_Missense_Mutation_p.R144Q|TMEM205_ENST00000589555.1_Missense_Mutation_p.R144Q|TMEM205_ENST00000593256.2_Missense_Mutation_p.R144Q|TMEM205_ENST00000586590.1_Missense_Mutation_p.R144Q|CCDC159_ENST00000588790.1_5'Flank|TMEM205_ENST00000588560.1_Missense_Mutation_p.R144Q			Q6UW68	TM205_HUMAN	transmembrane protein 205	144						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						GTCCTTCTCTCGCAGCTGGCG	0.622																																						.											0													99.0	89.0	93.0					19																	11453630		2203	4300	6503	SO:0001583	missense	374882			AK127147	CCDS32909.1	19p13.2	2008-01-09				ENSG00000105518			29631	protein-coding gene	gene with protein product		613771				12975309	Standard	NM_198536		Approved	UNQ501, MBC3205	uc002mrb.2	Q6UW68		ENST00000354882.5:c.431G>A	19.37:g.11453630C>T	ENSP00000346954:p.Arg144Gln	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000354882.5	37	CCDS32909.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582875	0.28268	.	.	ENSG00000105518	ENST00000354882;ENST00000447337	.	.	.	4.96	0.39	0.16275	.	0.078138	0.51477	U	0.000099	T	0.44329	0.1288	L	0.55103	1.725	0.37141	D	0.90169	B	0.11235	0.004	B	0.09377	0.004	T	0.33420	-0.9869	9	0.13108	T	0.6	-15.8945	8.4711	0.32986	0.0:0.5096:0.0:0.4904	.	144	Q6UW68	TM205_HUMAN	Q	144	.	ENSP00000346954:R144Q	R	-	2	0	TMEM205	11314630	0.258000	0.24033	0.360000	0.25837	0.555000	0.35460	0.735000	0.26115	0.001000	0.14605	-0.768000	0.03414	CGA		0.622	TMEM205-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458743.1	NM_198536	
ELAVL3	1995	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	11568980	11568980	+	Silent	SNP	C	C	T	rs547655016		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:11568980C>T	ENST00000359227.3	-	5	1033	c.609G>A	c.(607-609)gcG>gcA	p.A203A	ELAVL3_ENST00000438662.2_Silent_p.A203A	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	203	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)	p.A203A(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						TTGGGTTGTTCGCGAACTTGA	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		17572	0.0		0.001	False		,,,				2504	0.0					.											1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											88.0	77.0	81.0					19																	11568980		2203	4300	6503	SO:0001819	synonymous_variant	1995				CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"""RNA binding motif (RRM) containing"""	3314	protein-coding gene	gene with protein product	"""Hu antigen C"", ""paraneoplastic limbic encephalitis antigen 21"", ""paraneoplastic cerebellar degeneration-associated antigen"", ""ELAV-like protein 3"""	603458	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"""			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.609G>A	19.37:g.11568980C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q16135|Q96CL8|Q96QS9	Silent	SNP	ENST00000359227.3	37	CCDS32912.1																																																																																				0.602	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458827.2	NM_001420	
ZNF441	126068	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	11892622	11892622	+	Silent	SNP	T	T	C	rs376601123		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:11892622T>C	ENST00000357901.4	+	4	2085	c.1983T>C	c.(1981-1983)caT>caC	p.H661H	ZNF441_ENST00000454339.2_Silent_p.H594H	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	661					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCATAAACATGAAAGGACCC	0.388																																						.											0								T		1,4405	2.1+/-5.4	0,1,2202	70.0	74.0	73.0		1983	0.1	0.0	19		73	0,8600		0,0,4300	no	coding-synonymous	ZNF441	NM_152355.2		0,1,6502	CC,CT,TT		0.0,0.0227,0.0077		661/694	11892622	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	126068			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1983T>C	19.37:g.11892622T>C		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000357901.4	37	CCDS12266.2																																																																																				0.388	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355	
ZNF878	729747	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	12155144	12155144	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:12155144C>T	ENST00000547628.1	-	4	1209	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000602107.1_Missense_Mutation_p.E405K	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	358					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TGTGTCCTTTCATGTATTCGA	0.388																																						.											0													46.0	51.0	49.0					19																	12155144		2194	4296	6490	SO:0001583	missense	729747				CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.1072G>A	19.37:g.12155144C>T	ENSP00000447931:p.Glu358Lys	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000547628.1	37	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939478	0.34189	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07327	3.2	1.29	-2.13	0.07144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06554	0.0168	L	0.28014	0.82	0.09310	N	1	P	0.45283	0.855	P	0.46850	0.529	T	0.35375	-0.9791	9	0.26408	T	0.33	.	4.3632	0.11211	0.0:0.2994:0.4899:0.2107	.	358	C9JN71	ZN878_HUMAN	K	358;405	ENSP00000447931:E358K	ENSP00000447931:E358K	E	-	1	0	AC022415.4;ZNF878	12016144	0.000000	0.05858	0.001000	0.08648	0.520000	0.34377	-0.192000	0.09587	-0.128000	0.11641	0.305000	0.20034	GAA		0.388	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404	
TNPO2	30000	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	19	12812988	12812988	+	Missense_Mutation	SNP	C	C	T	rs368882556		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:12812988C>T	ENST00000592287.1	-	21	2417	c.2309G>A	c.(2308-2310)cGc>cAc	p.R770H	TNPO2_ENST00000588216.1_Intron|TNPO2_ENST00000356861.5_Intron|TNPO2_ENST00000450764.2_Intron|TNPO2_ENST00000425528.1_Missense_Mutation_p.R770H|TNPO2_ENST00000441499.1_Intron	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	770					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACTCGTCAGGCGACCTGCAAC	0.682																																						.											0								C	,HIS/ARG,	0,4222		0,0,2111	30.0	37.0	35.0		,2309,	3.1	1.0	19		35	1,8433		0,1,4216	no	intron,missense,intron	TNPO2	NM_001136195.1,NM_001136196.1,NM_013433.4	,29,	0,1,6327	TT,TC,CC		0.0119,0.0,0.0079	,benign,	,770/898,	12812988	1,12655	2111	4217	6328	SO:0001583	missense	30000			AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.2309G>A	19.37:g.12812988C>T	ENSP00000468434:p.Arg770His	Somatic		WXS	Illumina HiSeq	Phase_I	O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460680	0.43736	0.0	1.19E-4	ENSG00000105576	ENST00000425528;ENST00000450764	T	0.22945	1.93	5.26	3.08	0.35506	Armadillo-like helical (1);Armadillo-type fold (1);	0.554792	0.17271	N	0.180376	T	0.08980	0.0222	N	0.14661	0.345	0.80722	D	1	P	0.46457	0.878	B	0.21360	0.034	T	0.24154	-1.0168	9	.	.	.	-17.3437	7.4918	0.27466	0.1649:0.7487:0.0:0.0864	.	770	O14787	TNPO2_HUMAN	H	770	ENSP00000407182:R770H	.	R	-	2	0	TNPO2	12673988	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.150000	0.31639	0.563000	0.29222	0.561000	0.74099	CGC		0.682	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433	
NFIX	4784	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	13186460	13186460	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:13186460C>T	ENST00000592199.1	+	6	930	c.930C>T	c.(928-930)agC>agT	p.S310S	NFIX_ENST00000587760.1_Silent_p.S302S|NFIX_ENST00000360105.4_Silent_p.S313S|NFIX_ENST00000587260.1_Silent_p.S309S|NFIX_ENST00000397661.2_Silent_p.S310S|NFIX_ENST00000358552.3_Silent_p.S309S|NFIX_ENST00000588228.1_Silent_p.S263S|NFIX_ENST00000585575.1_Silent_p.S302S			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	310					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			GCCAGTCCAGCGGGTGGCCCA	0.607																																						.											0													26.0	32.0	30.0					19																	13186460		2038	4192	6230	SO:0001819	synonymous_variant	4784			U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.930C>T	19.37:g.13186460C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Silent	SNP	ENST00000592199.1	37																																																																																					0.607	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	NM_002501	
LPHN1	22859	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	14268815	14268815	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:14268815C>T	ENST00000340736.6	-	14	2726	c.2429G>A	c.(2428-2430)cGt>cAt	p.R810H	CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.R805H|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	810	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGCATGGAACGCTCCGAGTA	0.567																																						.											0													202.0	161.0	175.0					19																	14268815		2203	4300	6503	SO:0001583	missense	22859			AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.2429G>A	19.37:g.14268815C>T	ENSP00000340688:p.Arg810His	Somatic		WXS	Illumina HiSeq	Phase_I	Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126719	0.37533	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.70631	-0.5;-0.5	4.73	4.73	0.59995	GPS domain (3);	0.000000	0.85682	D	0.000000	T	0.70465	0.3227	L	0.41961	1.31	0.50632	D	0.999883	P;P	0.42203	0.74;0.773	P;P	0.47015	0.479;0.534	T	0.73757	-0.3882	10	0.56958	D	0.05	.	15.5416	0.76052	0.0:1.0:0.0:0.0	.	805;810	O94910-2;O94910	.;LPHN1_HUMAN	H	810;805	ENSP00000340688:R810H;ENSP00000355328:R805H	ENSP00000340688:R810H	R	-	2	0	LPHN1	14129815	1.000000	0.71417	0.918000	0.36340	0.417000	0.31264	4.920000	0.63390	2.339000	0.79563	0.561000	0.74099	CGT		0.567	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921	
SLC1A6	6511	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	15063793	15063793	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:15063793C>T	ENST00000221742.3	-	8	1453	c.1446G>A	c.(1444-1446)tcG>tcA	p.S482S	SLC1A6_ENST00000600144.1_Silent_p.S404S|SLC1A6_ENST00000430939.2_Silent_p.S418S	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	482					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GCAAGCCGACCGACGTAAGCA	0.612																																						.											0													189.0	149.0	162.0					19																	15063793		2203	4300	6503	SO:0001819	synonymous_variant	6511				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1446G>A	19.37:g.15063793C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8N753	Silent	SNP	ENST00000221742.3	37	CCDS12321.1																																																																																				0.612	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071	
TCF3	6929	hgsc.bcm.edu	37	19	1621856	1621856	+	Silent	SNP	G	G	A	rs377363979		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:1621856G>A	ENST00000262965.5	-	11	1280	c.936C>T	c.(934-936)agC>agT	p.S312S	TCF3_ENST00000453954.2_Silent_p.S228S|TCF3_ENST00000395423.3_Silent_p.S261S|TCF3_ENST00000344749.5_Silent_p.S312S|TCF3_ENST00000588136.1_Silent_p.S312S	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTCGGCCCCGCTGACAGGCG	0.701			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																	.		Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	0								G	,	1,4351		0,1,2175	9.0	12.0	11.0		936,936	-8.8	0.0	19		11	2,8548		0,2,4273	no	coding-synonymous,coding-synonymous	TCF3	NM_001136139.2,NM_003200.3	,	0,3,6448	AA,AG,GG		0.0234,0.023,0.0233	,	312/652,312/655	1621856	3,12899	2176	4275	6451	SO:0001819	synonymous_variant	6929			M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.936C>T	19.37:g.1621856G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	CCDS12074.1																																																																																				0.701	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200	
NOTCH3	4854	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	15297722	15297722	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:15297722G>A	ENST00000263388.2	-	12	1993	c.1918C>T	c.(1918-1920)Cgc>Tgc	p.R640C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	640	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CAGTCGTAGCGGTTGATGCCA	0.582																																						.											0													106.0	82.0	90.0					19																	15297722		2203	4300	6503	SO:0001583	missense	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1918C>T	19.37:g.15297722G>A	ENSP00000263388:p.Arg640Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.794432	0.70452	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.95137	-3.62	4.52	3.45	0.39498	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.96040	0.8710	M	0.72479	2.2	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.76071	0.956;0.987	D	0.95023	0.8162	9	0.56958	D	0.05	.	8.8859	0.35402	0.0:0.1636:0.6673:0.1691	.	643;640	Q59FL3;Q9UM47	.;NOTC3_HUMAN	C	640;642	ENSP00000263388:R640C	ENSP00000263388:R640C	R	-	1	0	NOTCH3	15158722	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	0.750000	0.26334	0.979000	0.38497	0.655000	0.94253	CGC		0.582	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435	
SIN3B	23309	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	16976291	16976291	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:16976291G>A	ENST00000248054.5	+	11	1475	c.1454G>A	c.(1453-1455)cGg>cAg	p.R485Q	SIN3B_ENST00000379803.1_Missense_Mutation_p.R517Q|SIN3B_ENST00000595541.1_Missense_Mutation_p.R75Q					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						AAGCTATCTCGGATGGCGCCG	0.582																																						.											0													88.0	78.0	81.0					19																	16976291		2203	4300	6503	SO:0001583	missense	23309			AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.1454G>A	19.37:g.16976291G>A	ENSP00000248054:p.Arg485Gln	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000248054.5	37		.	.	.	.	.	.	.	.	.	.	G	20.1	3.934950	0.73442	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.47869	0.86;0.83	4.77	4.77	0.60923	Histone deacetylase interacting (2);	0.054954	0.85682	D	0.000000	T	0.58623	0.2135	L	0.55103	1.725	0.80722	D	1	P;P;D	0.59357	0.928;0.603;0.985	P;B;P	0.56751	0.54;0.265;0.805	T	0.55095	-0.8194	10	0.27082	T	0.32	-13.5955	17.85	0.88744	0.0:0.0:1.0:0.0	.	75;485;517	B7Z392;O75182-2;O75182	.;.;SIN3B_HUMAN	Q	517;485	ENSP00000369131:R517Q;ENSP00000248054:R485Q	ENSP00000248054:R485Q	R	+	2	0	SIN3B	16837291	1.000000	0.71417	0.728000	0.30774	0.473000	0.32948	7.776000	0.85560	2.205000	0.71048	0.456000	0.33151	CGG		0.582	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260	
HFM1	164045	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	91809065	91809065	+	Silent	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:91809065A>G	ENST00000370425.3	-	20	2355	c.2257T>C	c.(2257-2259)Tta>Cta	p.L753L	HFM1_ENST00000370424.3_Silent_p.L432L|HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	753					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTCAAACATAATTCTGTTTAA	0.264																																						.											0													20.0	20.0	20.0					1																	91809065		2177	4229	6406	SO:0001819	synonymous_variant	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2257T>C	1.37:g.91809065A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B1B0B6|Q8N9Q0	Silent	SNP	ENST00000370425.3	37	CCDS30769.2																																																																																				0.264	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	
AMH	268	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	2249496	2249496	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:2249496C>T	ENST00000221496.4	+	1	187	c.165C>T	c.(163-165)tgC>tgT	p.C55C	MIR4321_ENST00000592276.1_RNA	NM_000479.3	NP_000470	P03971	MIS_HUMAN	anti-Mullerian hormone	55					aging (GO:0007568)|cell-cell signaling (GO:0007267)|gonadal mesoderm development (GO:0007506)|Mullerian duct regression (GO:0001880)|positive regulation of gene expression (GO:0010628)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|preantral ovarian follicle growth (GO:0001546)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|urogenital system development (GO:0001655)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			lung(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCTCTGTGCCTGGTGGCAC	0.667									Persistant Mullerian Duct Syndrome (type I and II)																													.											0													17.0	19.0	19.0					19																	2249496		2197	4297	6494	SO:0001819	synonymous_variant	268	Familial Cancer Database	PMDS, Persistent Oviduct Syndrome	K03474	CCDS12085.1	19p13.3	2014-01-30				ENSG00000104899		"""Endogenous ligands"""	464	protein-coding gene	gene with protein product		600957				3754790, 18784351	Standard	NM_000479		Approved	MIS	uc002lvh.2	P03971		ENST00000221496.4:c.165C>T	19.37:g.2249496C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O75246|Q6GTN3	Silent	SNP	ENST00000221496.4	37	CCDS12085.1																																																																																				0.667	AMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451276.3	NM_000479	
TMPRSS9	360200	hgsc.bcm.edu;mdanderson.org	37	19	2425067	2425067	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:2425067C>T	ENST00000332578.3	+	15	2683	c.2683C>T	c.(2683-2685)Ctg>Ttg	p.L895L		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	895	Peptidase S1 3. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGGGGCAGCTGGAGCGCGT	0.711																																						.											0													12.0	10.0	11.0					19																	2425067		2178	4267	6445	SO:0001819	synonymous_variant	360200			AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.2683C>T	19.37:g.2425067C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZND6|Q7Z411	Silent	SNP	ENST00000332578.3	37	CCDS12088.1																																																																																				0.711	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973	
HAPLN4	404037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	19369385	19369385	+	Missense_Mutation	SNP	C	C	T	rs372695408		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:19369385C>T	ENST00000291481.7	-	4	827	c.764G>A	c.(763-765)cGc>cAc	p.R255H	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	255	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	GGCGTTATGGCGATACCCGTA	0.701																																						.											0								C	HIS/ARG	0,4406		0,0,2203	75.0	61.0	66.0		764	4.0	0.7	19		66	1,8599	1.2+/-3.3	0,1,4299	no	missense	HAPLN4	NM_023002.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	255/403	19369385	1,13005	2203	4300	6503	SO:0001583	missense	404037			AB107883	CCDS12398.1	19p13.1	2013-01-11						"""Immunoglobulin superfamily / V-set domain containing"""	31357	protein-coding gene	gene with protein product	"""brain link protein 2"""					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.764G>A	19.37:g.19369385C>T	ENSP00000291481:p.Arg255His	Somatic		WXS	Illumina HiSeq	Phase_I	A5PKW5|Q96PW2	Missense_Mutation	SNP	ENST00000291481.7	37	CCDS12398.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435566	0.83885	0.0	1.16E-4	ENSG00000187664	ENST00000291481	T	0.14144	2.53	3.97	3.97	0.46021	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.071699	0.50627	D	0.000116	T	0.48995	0.1531	H	0.95539	3.685	0.46222	D	0.99893	D	0.89917	1.0	D	0.79784	0.993	T	0.66516	-0.5904	10	0.72032	D	0.01	-25.3078	14.7601	0.69600	0.0:1.0:0.0:0.0	.	255	Q86UW8	HPLN4_HUMAN	H	255	ENSP00000291481:R255H	ENSP00000291481:R255H	R	-	2	0	HAPLN4	19230385	0.996000	0.38824	0.692000	0.30179	0.636000	0.38137	3.440000	0.52886	2.055000	0.61198	0.313000	0.20887	CGC		0.701	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002	
WDR88	126248	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	33666433	33666433	+	Silent	SNP	G	G	A	rs145406953	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:33666433G>A	ENST00000355868.3	+	11	1450	c.1374G>A	c.(1372-1374)tcG>tcA	p.S458S	WDR88_ENST00000361680.2_3'UTR|CTD-2540B15.10_ENST00000590117.1_RNA|AC008738.2_ENST00000577275.1_RNA	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	458	Poly-Ser.									breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					CATCATCATCGGAAAGGGAGA	0.522													G|||	6	0.00119808	0.003	0.0029	5008	,	,		18538	0.0		0.0	False		,,,				2504	0.0					.											0								G		12,4394	20.2+/-43.8	0,12,2191	108.0	102.0	104.0		1374	-6.3	0.0	19	dbSNP_134	104	0,8600		0,0,4300	no	coding-synonymous	WDR88	NM_173479.3		0,12,6491	AA,AG,GG		0.0,0.2724,0.0923		458/473	33666433	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	126248			BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"""WD repeat domain containing"""	26999	protein-coding gene	gene with protein product			"""PQQ repeat and WD repeat domain containing"""	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.1374G>A	19.37:g.33666433G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q8NEF8	Silent	SNP	ENST00000355868.3	37	CCDS12429.1																																																																																				0.522	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479	
WTIP	126374	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	34984440	34984440	+	Missense_Mutation	SNP	G	G	A	rs539423563		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:34984440G>A	ENST00000590071.2	+	5	1281	c.944G>A	c.(943-945)cGg>cAg	p.R315Q	WTIP_ENST00000270288.6_Missense_Mutation_p.R539Q	NM_001080436.1	NP_001073905.1	A6NIX2	WTIP_HUMAN	Wilms tumor 1 interacting protein	315	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|negative regulation of hippo signaling (GO:0035331)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GGCTGCTTCCGGTGCTCCGTG	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		17989	0.0		0.001	False		,,,				2504	0.0					.											0													59.0	68.0	65.0					19																	34984440		2186	4290	6476	SO:0001583	missense	126374			AK130059	CCDS59375.1	19q13.11	2012-03-16			ENSG00000142279	ENSG00000142279			20964	protein-coding gene	gene with protein product	"""WT1-interacting protein"""	614790				14736876	Standard	NM_001080436		Approved		uc002nvm.3	A6NIX2		ENST00000590071.2:c.944G>A	19.37:g.34984440G>A	ENSP00000466953:p.Arg315Gln	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000590071.2	37	CCDS59375.1	.	.	.	.	.	.	.	.	.	.	G	35	5.541018	0.96474	.	.	ENSG00000142279	ENST00000270288	D	0.88664	-2.41	5.59	5.59	0.84812	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.91908	0.7438	L	0.37630	1.12	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91746	0.5408	10	0.48119	T	0.1	.	18.3542	0.90351	0.0:0.0:1.0:0.0	.	539	A6NIX2	WTIP_HUMAN	Q	539	ENSP00000270288:R539Q	ENSP00000270288:R539Q	R	+	2	0	WTIP	39676280	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.268000	0.95675	2.624000	0.88883	0.561000	0.74099	CGG		0.642	WTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459381.3	XM_059037	
FFAR2	2867	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	35941487	35941487	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:35941487C>T	ENST00000599180.2	+	2	951	c.871C>T	c.(871-873)Ctg>Ttg	p.L291L	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Silent_p.L291L			O15552	FFAR2_HUMAN	free fatty acid receptor 2	291					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCTGCAGGTGCTGCGGAATCA	0.582																																					GBM(40;139 809 9833 23358 48736)	.											0													92.0	90.0	91.0					19																	35941487		2203	4300	6503	SO:0001819	synonymous_variant	2867			AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.871C>T	19.37:g.35941487C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Silent	SNP	ENST00000599180.2	37	CCDS12461.1																																																																																				0.582	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306	
RBM42	79171	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	36120479	36120479	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:36120479G>A	ENST00000262633.4	+	2	291	c.186G>A	c.(184-186)gcG>gcA	p.A62A	RBM42_ENST00000360475.4_Silent_p.A62A|RBM42_ENST00000589559.1_Silent_p.A62A|RBM42_ENST00000588161.1_Silent_p.A62A|RBM42_ENST00000589871.1_Silent_p.A62A|RBM42_ENST00000586618.1_Silent_p.A62A|RBM42_ENST00000592202.1_Silent_p.A62A	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	62						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTGTGCCTGCGGTGCCCACTG	0.592																																						.											0													88.0	83.0	84.0					19																	36120479		2203	4300	6503	SO:0001819	synonymous_variant	79171			BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"""RNA binding motif (RRM) containing"""	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.186G>A	19.37:g.36120479G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O00320|Q8N5R7|Q9BU66	Silent	SNP	ENST00000262633.4	37	CCDS12468.1																																																																																				0.592	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	NM_024321	
KMT2B	9757	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	36210898	36210898	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:36210898C>T	ENST00000222270.7	+	3	649	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	KMT2B_ENST00000420124.1_Missense_Mutation_p.R217W|KMT2B_ENST00000341701.1_Missense_Mutation_p.R217W|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	217					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CTCCACCCCCCGGCGGTCTCG	0.682																																						.											0													19.0	27.0	24.0					19																	36210898		1968	4135	6103	SO:0001583	missense	8085			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.649C>T	19.37:g.36210898C>T	ENSP00000222270:p.Arg217Trp	Somatic		WXS	Illumina HiSeq	Phase_I	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974481	0.74246	.	.	ENSG00000105663	ENST00000222270;ENST00000420124;ENST00000341701	D;D;T	0.85773	-2.03;-2.03;0.51	5.59	5.59	0.84812	AT hook, DNA-binding motif (1);	0.000000	0.41823	D	0.000801	D	0.85457	0.5701	N	0.14661	0.345	0.37476	D	0.9158	D	0.89917	1.0	D	0.69654	0.965	D	0.89018	0.3433	10	0.87932	D	0	.	15.0853	0.72148	0.0:1.0:0.0:0.0	.	217	Q9UMN6	MLL4_HUMAN	W	217	ENSP00000222270:R217W;ENSP00000398837:R217W;ENSP00000345761:R217W	ENSP00000222270:R217W	R	+	1	2	AD000671.1	40902738	0.993000	0.37304	0.999000	0.59377	0.937000	0.57800	3.836000	0.55813	2.632000	0.89209	0.561000	0.74099	CGG		0.682	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	
PROSER3	148137	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	19	36255795	36255795	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:36255795C>T	ENST00000544099.1	+	6	647	c.584C>T	c.(583-585)aCg>aTg	p.T195M	C19orf55_ENST00000396908.4_Missense_Mutation_p.T195M			Q2NL68	PRSR3_HUMAN		195										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GACCTGGAGACGCTGAGCCTA	0.642																																						.											0													40.0	50.0	47.0					19																	36255795		2110	4233	6343	SO:0001583	missense	148137																														ENST00000544099.1:c.584C>T	19.37:g.36255795C>T	ENSP00000467267:p.Thr195Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NDI3|Q8WWC8|Q96NL4	Missense_Mutation	SNP	ENST00000544099.1	37		.	.	.	.	.	.	.	.	.	.	C	13.30	2.195170	0.38806	.	.	ENSG00000167595	ENST00000396908;ENST00000301165	T;T	0.48836	0.8;0.8	4.42	3.39	0.38822	.	0.000000	0.39407	N	0.001370	T	0.56630	0.1998	M	0.68952	2.095	0.30480	N	0.772409	D	0.65815	0.995	P	0.57009	0.811	T	0.60571	-0.7237	10	0.72032	D	0.01	-14.8863	8.2684	0.31829	0.0:0.8908:0.0:0.1092	.	195	E5RFB9	.	M	195;194	ENSP00000380116:T195M;ENSP00000301165:T194M	ENSP00000301165:T194M	T	+	2	0	C19orf55	40947635	0.579000	0.26725	0.872000	0.34217	0.828000	0.46876	0.707000	0.25704	1.217000	0.43442	0.558000	0.71614	ACG		0.642	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2		
ARHGAP33	115703	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	36279135	36279135	+	Missense_Mutation	SNP	C	C	T	rs200225433		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:36279135C>T	ENST00000007510.4	+	21	3812	c.3668C>T	c.(3667-3669)cCg>cTg	p.P1223L	AC002398.5_ENST00000433059.1_lincRNA|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.P1059L|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.P1062L			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1223					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CATAGGGTGCCGGGTCCCTGG	0.692																																						.											0													10.0	14.0	13.0					19																	36279135		2088	4091	6179	SO:0001583	missense	115703			AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.3668C>T	19.37:g.36279135C>T	ENSP00000007510:p.Pro1223Leu	Somatic		WXS	Illumina HiSeq	Phase_I	O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37		.	.	.	.	.	.	.	.	.	.	c	9.803	1.181068	0.21787	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.10099	3.34;2.91;3.19	3.99	2.82	0.32997	.	0.000000	0.35870	N	0.002934	T	0.05914	0.0154	N	0.14661	0.345	0.09310	N	0.999998	B;B	0.12630	0.006;0.006	B;B	0.04013	0.001;0.001	T	0.25257	-1.0137	10	0.87932	D	0	.	6.6413	0.22911	0.0:0.7092:0.1855:0.1053	.	1059;1062	O14559-10;O14559-11	.;.	L	1223;1062;1059	ENSP00000007510:P1223L;ENSP00000320038:P1062L;ENSP00000368227:P1059L	ENSP00000007510:P1223L	P	+	2	0	ARHGAP33	40970975	0.003000	0.15002	0.775000	0.31657	0.131000	0.20780	1.223000	0.32527	2.174000	0.68829	0.401000	0.26515	CCG		0.692	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948	
KIRREL2	84063	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	36349605	36349605	+	Splice_Site	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:36349605G>A	ENST00000360202.5	+	4	559		c.e4-1		NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Splice_Site|KIRREL2_ENST00000262625.7_Splice_Site|KIRREL2_ENST00000592409.1_Splice_Site	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)						cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCACCTTGCAGTCCCCCCAGA	0.627																																						.											0													50.0	58.0	55.0					19																	36349605		2203	4300	6503	SO:0001630	splice_region_variant	84063			AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.362-1G>A	19.37:g.36349605G>A		Somatic		WXS	Illumina HiSeq	Phase_I	C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Splice_Site	SNP	ENST00000360202.5	37	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607817	0.28623	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.466	0.75400	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIRREL2	41041445	1.000000	0.71417	0.995000	0.50966	0.020000	0.10135	7.608000	0.82898	2.793000	0.96121	0.563000	0.77884	.		0.627	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123	Intron
RASGRP4	115727	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	38901988	38901988	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:38901988G>A	ENST00000587738.1	-	14	1784	c.1714C>T	c.(1714-1716)Cgg>Tgg	p.R572W	RASGRP4_ENST00000433821.2_Missense_Mutation_p.R480W|RASGRP4_ENST00000426920.2_Missense_Mutation_p.R383W|RASGRP4_ENST00000586305.1_Missense_Mutation_p.R558W|RASGRP4_ENST00000454404.2_Missense_Mutation_p.R538W|RASGRP4_ENST00000293062.9_Missense_Mutation_p.R475W|RASGRP4_ENST00000587753.1_Missense_Mutation_p.R503W			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	572					activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CACTCACCCCGACAGCGGTAG	0.617																																						.											0													26.0	27.0	27.0					19																	38901988		1972	4154	6126	SO:0001583	missense	115727			AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.1714C>T	19.37:g.38901988G>A	ENSP00000465772:p.Arg572Trp	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	ENST00000587738.1	37	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423059	0.83559	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	D;D;D	0.93133	-3.17;-3.17;-3.17	5.7	5.7	0.88788	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.200789	0.42964	D	0.000636	D	0.96836	0.8967	M	0.89095	3.005	0.39659	D	0.970589	D;D;D;D;D;D;D	0.89917	0.998;1.0;0.995;0.995;0.995;0.984;0.998	P;D;P;P;P;P;P	0.79784	0.817;0.993;0.745;0.745;0.745;0.828;0.885	D	0.97572	1.0105	10	0.87932	D	0	.	12.2986	0.54862	0.0:0.0:0.8308:0.1692	.	383;475;480;538;503;558;572	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	W	480;475;383;572;572	ENSP00000411878:R480W;ENSP00000293062:R475W;ENSP00000445966:R383W	ENSP00000293062:R475W	R	-	1	2	RASGRP4	43593828	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.229000	0.51278	2.687000	0.91594	0.655000	0.94253	CGG		0.617	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604	
FCGBP	8857	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	19	40366434	40366434	+	Silent	SNP	G	G	A	rs373753795		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:40366434G>A	ENST00000221347.6	-	30	13807	c.13800C>T	c.(13798-13800)cgC>cgT	p.R4600R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4600	VWFD 11. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.R4600R(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCGCCGGCACGCGCAGGCGCA	0.672																																						.											1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											45.0	51.0	49.0					19																	40366434		2202	4297	6499	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13800C>T	19.37:g.40366434G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O95784	Silent	SNP	ENST00000221347.6	37	CCDS12546.1																																																																																				0.672	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
SPTBN4	57731	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	41072217	41072217	+	Silent	SNP	G	G	A	rs577033896		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:41072217G>A	ENST00000352632.3	+	30	6374	c.6288G>A	c.(6286-6288)gcG>gcA	p.A2096A	SPTBN4_ENST00000338932.3_Silent_p.A2096A|SPTBN4_ENST00000598249.1_Silent_p.A2096A|SPTBN4_ENST00000392025.1_Silent_p.A839A			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2096					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCGCAAAGCGGCTGCAGCCT	0.667													g|||	1	0.000199681	0.0	0.0	5008	,	,		14384	0.001		0.0	False		,,,				2504	0.0					.											0													17.0	19.0	18.0					19																	41072217		2200	4300	6500	SO:0001819	synonymous_variant	57731			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.6288G>A	19.37:g.41072217G>A		Somatic		WXS	Illumina HiSeq	Phase_I	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	CCDS12559.1																																																																																				0.667	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2		
ADCK4	79934	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	19	41198899	41198899	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:41198899T>C	ENST00000324464.3	-	14	1554	c.1253A>G	c.(1252-1254)cAg>cGg	p.Q418R	NUMBL_ENST00000598779.1_5'Flank|NUMBL_ENST00000599594.1_5'Flank|ADCK4_ENST00000450541.1_Missense_Mutation_p.Q377R|NUMBL_ENST00000252891.4_5'Flank|NUMBL_ENST00000540131.1_5'Flank|ADCK4_ENST00000243583.6_Missense_Mutation_p.Q377R	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	418	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CCTGGACTTCTGCAGGACACA	0.607																																						.											0													98.0	90.0	93.0					19																	41198899		2203	4300	6503	SO:0001583	missense	79934			AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.1253A>G	19.37:g.41198899T>C	ENSP00000315118:p.Gln418Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q8TAJ1|Q9HA52	Missense_Mutation	SNP	ENST00000324464.3	37	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	T	10.22	1.291259	0.23564	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.54071	0.59;0.59;0.59	5.37	4.35	0.52113	Protein kinase-like domain (1);	0.444670	0.24973	N	0.034129	T	0.33614	0.0869	N	0.17594	0.5	0.37920	D	0.931658	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.15838	-1.0423	10	0.39692	T	0.17	-11.5279	7.7486	0.28883	0.0:0.1652:0.0:0.8348	.	418;377	Q96D53;Q96D53-2	ADCK4_HUMAN;.	R	418;377;377	ENSP00000315118:Q418R;ENSP00000412839:Q377R;ENSP00000243583:Q377R	ENSP00000243583:Q377R	Q	-	2	0	ADCK4	45890739	0.994000	0.37717	0.998000	0.56505	0.579000	0.36224	2.254000	0.43214	0.884000	0.36064	0.533000	0.62120	CAG		0.607	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876	
POU2F2	5452	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	42600329	42600329	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:42600329G>A	ENST00000526816.2	-	8	583	c.568C>T	c.(568-570)Cca>Tca	p.P190S	POU2F2_ENST00000560398.1_Missense_Mutation_p.P196S|POU2F2_ENST00000533720.1_Missense_Mutation_p.P174S|POU2F2_ENST00000560558.1_Missense_Mutation_p.P135S|POU2F2_ENST00000529952.1_Missense_Mutation_p.P190S|POU2F2_ENST00000342301.4_Missense_Mutation_p.P190S|POU2F2_ENST00000529067.1_Missense_Mutation_p.P174S|POU2F2_ENST00000389341.5_Missense_Mutation_p.P174S			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	190					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	TGGGATGGTGGCTCCAAGCAT	0.682																																						.											0													35.0	35.0	35.0					19																	42600329		2203	4300	6503	SO:0001583	missense	5452				CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.568C>T	19.37:g.42600329G>A	ENSP00000431603:p.Pro190Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	ENST00000526816.2	37	CCDS56095.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676257	0.47886	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952	D;D;D;T;D	0.83335	-1.64;-1.65;-1.71;-1.43;-1.57	4.33	4.33	0.51752	.	0.634983	0.12915	N	0.428654	T	0.78553	0.4301	N	0.22421	0.69	0.40871	D	0.983912	B;D;B	0.57257	0.356;0.979;0.409	B;P;B	0.51777	0.185;0.679;0.249	T	0.71862	-0.4464	10	0.11794	T	0.64	.	14.2132	0.65778	0.0:0.0:1.0:0.0	.	174;190;174	P09086-4;P09086;P09086-3	.;PO2F2_HUMAN;.	S	174;190;190;174;189;174;190	ENSP00000373992:P174S;ENSP00000339369:P190S;ENSP00000437221:P174S;ENSP00000437224:P174S;ENSP00000436988:P190S	ENSP00000292077:P190S	P	-	1	0	POU2F2	47292169	0.963000	0.33076	1.000000	0.80357	0.997000	0.91878	1.558000	0.36309	2.393000	0.81446	0.650000	0.86243	CCA		0.682	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3		
ZNF526	116115	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	42729973	42729973	+	Missense_Mutation	SNP	G	G	A	rs149858475		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:42729973G>A	ENST00000301215.3	+	3	1643	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	473					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CGGCGTCACCGCTGTGGGGTT	0.657																																						.											0								G	HIS/ARG	0,4406		0,0,2203	67.0	70.0	69.0		1418	0.3	0.0	19	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF526	NM_133444.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	473/671	42729973	1,13005	2203	4300	6503	SO:0001583	missense	116115			AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"""Zinc fingers, C2H2-type"""	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.1418G>A	19.37:g.42729973G>A	ENSP00000301215:p.Arg473His	Somatic		WXS	Illumina HiSeq	Phase_I	B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	ENST00000301215.3	37	CCDS12598.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096005	0.36952	0.0	1.16E-4	ENSG00000167625	ENST00000437878;ENST00000301215	T	0.14893	2.47	4.97	0.305	0.15801	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.513891	0.17231	N	0.181951	T	0.11153	0.0272	L	0.28649	0.875	0.09310	N	1	P	0.48350	0.909	B	0.40565	0.333	T	0.17018	-1.0383	10	0.54805	T	0.06	-18.3772	8.4082	0.32627	0.4764:0.0:0.5236:0.0	.	473	Q8TF50	ZN526_HUMAN	H	329;473	ENSP00000301215:R473H	ENSP00000301215:R473H	R	+	2	0	ZNF526	47421813	0.000000	0.05858	0.000000	0.03702	0.972000	0.66771	-0.022000	0.12480	0.093000	0.17368	0.650000	0.86243	CGC		0.657	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2	XM_057401	
ERF	2077	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	42754628	42754628	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:42754628G>A	ENST00000222329.4	-	2	269	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	ERF_ENST00000595941.1_5'UTR|ERF_ENST00000440177.2_5'UTR|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	38					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				TCCTCCTTCCGCAGCAGCTCC	0.622																																						.											0													56.0	49.0	52.0					19																	42754628		2203	4300	6503	SO:0001583	missense	2077			U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.112C>T	19.37:g.42754628G>A	ENSP00000222329:p.Arg38Trp	Somatic		WXS	Illumina HiSeq	Phase_I	B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	ENST00000222329.4	37	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643487	0.67244	.	.	ENSG00000105722	ENST00000222329	T	0.23754	1.89	5.45	3.27	0.37495	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.39279	0.1072	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.21245	-1.0251	10	0.87932	D	0	.	12.9636	0.58472	0.0:0.0:0.7055:0.2945	.	38	P50548	ERF_HUMAN	W	38	ENSP00000222329:R38W	ENSP00000222329:R38W	R	-	1	2	ERF	47446468	0.030000	0.19436	0.992000	0.48379	0.952000	0.60782	0.880000	0.28159	0.766000	0.33244	0.655000	0.94253	CGG		0.622	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494	
MEGF8	1954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	42861000	42861000	+	Missense_Mutation	SNP	G	G	A	rs397515427		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:42861000G>A	ENST00000251268.6	+	27	4697	c.4697G>A	c.(4696-4698)cGc>cAc	p.R1566H	MEGF8_ENST00000334370.4_Missense_Mutation_p.R1499H	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1566			R -> H (in CRPT2). {ECO:0000269|PubMed:23063620}.		BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCATCGCCCCGCTCCTTCCAT	0.662																																						.											0													29.0	27.0	28.0					19																	42861000		2197	4284	6481	SO:0001583	missense	1954			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.4697G>A	19.37:g.42861000G>A	ENSP00000251268:p.Arg1566His	Somatic		WXS	Illumina HiSeq	Phase_I	A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	G	22.3	4.267534	0.80469	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	D;D	0.83163	-1.69;-1.69	5.11	5.11	0.69529	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.000000	0.64402	D	0.000001	D	0.92241	0.7539	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	D	0.93570	0.6903	10	0.87932	D	0	-30.787	17.3138	0.87217	0.0:0.0:1.0:0.0	.	1566;1499	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	H	1499;1566	ENSP00000334219:R1499H;ENSP00000251268:R1566H	ENSP00000251268:R1566H	R	+	2	0	MEGF8	47552840	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	7.659000	0.83766	2.400000	0.81607	0.563000	0.77884	CGC		0.662	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	
PLIN4	729359	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	4511019	4511019	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:4511019C>T	ENST00000301286.3	-	3	2910	c.2911G>A	c.(2911-2913)Gcc>Acc	p.A971T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	971	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GCCTTGGAGGCGTCCACGCCG	0.617																																						.											0													42.0	48.0	46.0					19																	4511019		2173	4255	6428	SO:0001583	missense	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2911G>A	19.37:g.4511019C>T	ENSP00000301286:p.Ala971Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	T	0.035	-1.313322	0.01331	.	.	ENSG00000167676	ENST00000301286	T	0.01767	4.65	4.9	2.79	0.32731	.	0.000000	0.49305	N	0.000143	T	0.00666	0.0022	N	0.01048	-1.04	0.19775	N	0.999956	B	0.02656	0.0	B	0.04013	0.001	T	0.48456	-0.9034	10	0.11182	T	0.66	-9.5149	7.6921	0.28573	0.0:0.2515:0.0:0.7485	.	971	Q96Q06	PLIN4_HUMAN	T	971	ENSP00000301286:A971T	ENSP00000301286:A971T	A	-	1	0	PLIN4	4462019	0.011000	0.17503	0.929000	0.37066	0.001000	0.01503	0.205000	0.17356	0.728000	0.32382	-0.443000	0.05667	GCC		0.617	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901	
LYPD3	27076	hgsc.bcm.edu;ucsc.edu	37	19	43965542	43965542	+	Silent	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:43965542T>C	ENST00000244333.3	-	5	1090	c.1002A>G	c.(1000-1002)gcA>gcG	p.A334A		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	334					cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACAGAAGGGCTGCCAATCCAG	0.592																																						.											0													29.0	31.0	30.0					19																	43965542		2203	4300	6503	SO:0001819	synonymous_variant	27076			AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.1002A>G	19.37:g.43965542T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q9UJ74	Silent	SNP	ENST00000244333.3	37	CCDS12620.1																																																																																				0.592	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463177.1	NM_014400	
TOMM40	10452	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	45397308	45397308	+	Missense_Mutation	SNP	G	G	A	rs373123327		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:45397308G>A	ENST00000426677.2	+	5	808	c.628G>A	c.(628-630)Gtc>Atc	p.V210I	TOMM40_ENST00000592434.1_Missense_Mutation_p.V210I|TOMM40_ENST00000252487.5_Missense_Mutation_p.V210I|TOMM40_ENST00000405636.2_Missense_Mutation_p.V210I	NM_001128917.1	NP_001122389.1	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	210					cellular protein metabolic process (GO:0044267)|ion transport (GO:0006811)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane translocase complex (GO:0005742)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein transmembrane transporter activity (GO:0008320)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		GAACCCAGACGTCCTCGTGGG	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17156	0.0		0.0	False		,,,				2504	0.0					.											0								G	ILE/VAL,ILE/VAL,ILE/VAL	2,4404	2.1+/-5.4	0,2,2201	35.0	35.0	35.0		628,628,628	4.7	0.9	19		35	0,8600		0,0,4300	no	missense,missense,missense	TOMM40	NM_001128916.1,NM_001128917.1,NM_006114.2	29,29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign,benign	210/362,210/362,210/362	45397308	2,13004	2203	4300	6503	SO:0001583	missense	10452			AF043250	CCDS12646.1	19q13	2008-07-04				ENSG00000130204			18001	protein-coding gene	gene with protein product		608061				10980201, 15644312	Standard	NM_006114		Approved	PEREC1, D19S1177E, C19orf1, TOM40, PER-EC1	uc002paa.4	O96008		ENST00000426677.2:c.628G>A	19.37:g.45397308G>A	ENSP00000410339:p.Val210Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q86VW4|Q8WY09|Q8WY10|Q8WY11|Q9BR95	Missense_Mutation	SNP	ENST00000426677.2	37	CCDS12646.1	.	.	.	.	.	.	.	.	.	.	G	4.709	0.131812	0.08981	4.54E-4	0.0	ENSG00000130204	ENST00000426677;ENST00000405636;ENST00000252487	T;T;T	0.40225	1.04;1.04;1.04	4.66	4.66	0.58398	.	0.070286	0.56097	D	0.000025	T	0.17195	0.0413	N	0.11131	0.1	0.49582	D	0.999807	B;B	0.31290	0.318;0.046	B;B	0.24394	0.031;0.053	T	0.14643	-1.0465	10	0.02654	T	1	-6.3551	8.8123	0.34974	0.1042:0.0:0.8958:0.0	.	210;210	O96008-2;O96008	.;TOM40_HUMAN	I	210	ENSP00000410339:V210I;ENSP00000385184:V210I;ENSP00000252487:V210I	ENSP00000252487:V210I	V	+	1	0	TOMM40	50089148	0.996000	0.38824	0.916000	0.36221	0.676000	0.39594	2.372000	0.44257	2.133000	0.65898	0.561000	0.74099	GTC		0.577	TOMM40-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453241.1		
GRIN2D	2906	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	48945611	48945611	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:48945611G>A	ENST00000263269.3	+	12	2733	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	882					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCCACCCACCGCATGGACTTC	0.657																																						.											0													56.0	60.0	59.0					19																	48945611		2203	4300	6503	SO:0001583	missense	2906			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2645G>A	19.37:g.48945611G>A	ENSP00000263269:p.Arg882His	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000263269.3	37	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	g	13.09	2.132782	0.37630	.	.	ENSG00000105464	ENST00000263269	T	0.13196	2.61	3.85	2.82	0.32997	.	0.075697	0.50627	D	0.000120	T	0.08537	0.0212	N	0.20986	0.625	0.25545	N	0.987145	B	0.15473	0.013	B	0.08055	0.003	T	0.17531	-1.0366	10	0.56958	D	0.05	.	7.5626	0.27860	0.2035:0.0:0.7965:0.0	.	882	O15399	NMDE4_HUMAN	H	882	ENSP00000263269:R882H	ENSP00000263269:R882H	R	+	2	0	GRIN2D	53637423	0.999000	0.42202	1.000000	0.80357	0.463000	0.32649	2.343000	0.44001	2.161000	0.67846	0.450000	0.29827	CGC		0.657	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1		
LMTK3	114783	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	49002432	49002432	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:49002432G>A	ENST00000600059.1	-	11	2121	c.1894C>T	c.(1894-1896)Cgg>Tgg	p.R632W	LMTK3_ENST00000270238.3_Missense_Mutation_p.R661W			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	632	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GCGGTCCCCCGCTCCCCCAAG	0.731																																						.											0													3.0	3.0	3.0					19																	49002432		1342	3198	4540	SO:0001583	missense	114783			AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.1894C>T	19.37:g.49002432G>A	ENSP00000472020:p.Arg632Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q4G0U1	Missense_Mutation	SNP	ENST00000600059.1	37		.	.	.	.	.	.	.	.	.	.	G	13.39	2.221564	0.39300	.	.	ENSG00000142235	ENST00000270238	T	0.79247	-1.25	3.86	1.28	0.21552	.	1.169160	0.06763	U	0.782141	T	0.55049	0.1896	N	0.08118	0	0.25401	N	0.988445	D	0.56968	0.978	B	0.37422	0.249	T	0.51419	-0.8708	10	0.45353	T	0.12	.	7.4012	0.26965	0.0:0.184:0.6273:0.1887	.	632	Q96Q04	LMTK3_HUMAN	W	661	ENSP00000270238:R661W	ENSP00000270238:R661W	R	-	1	2	LMTK3	53694244	0.035000	0.19736	0.954000	0.39281	0.332000	0.28634	2.264000	0.43302	0.685000	0.31468	0.386000	0.25728	CGG		0.731	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895	
FUT2	2524	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	49206425	49206425	+	Missense_Mutation	SNP	G	G	A	rs374416675		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:49206425G>A	ENST00000425340.2	+	2	329	c.212G>A	c.(211-213)cGc>cAc	p.R71H	FUT2_ENST00000391876.4_Missense_Mutation_p.R71H	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	71					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		GCAATAGGCCGCCTGGGGAAC	0.622																																						.											0								G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	59.0	56.0	57.0		212,212	4.3	1.0	19		57	0,8600		0,0,4300	no	missense,missense	FUT2	NM_000511.5,NM_001097638.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	71/344,71/344	49206425	1,13005	2203	4300	6503	SO:0001583	missense	2524				CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"""Fucosyltransferases"""	4013	protein-coding gene	gene with protein product	"""alpha (1,2) fucosyltransferase"", ""galactoside 2-alpha-L-fucosyltransferase 2"", ""GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2"", ""alpha(1,2)FT2"", ""secretor factor"", ""secretor blood group alpha-2-fucosyltransferase"""	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.212G>A	19.37:g.49206425G>A	ENSP00000387498:p.Arg71His	Somatic		WXS	Illumina HiSeq	Phase_I	Q0VAG5|Q14338|Q5D0G2	Missense_Mutation	SNP	ENST00000425340.2	37	CCDS33069.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153140	0.78001	2.27E-4	0.0	ENSG00000176920	ENST00000522966;ENST00000425340;ENST00000391876	D;D;D	0.96802	-4.13;-4.13;-4.13	4.33	4.33	0.51752	.	.	.	.	.	D	0.98283	0.9431	M	0.90759	3.145	0.42790	D	0.993895	D	0.89917	1.0	D	0.97110	1.0	D	0.99712	1.1007	9	0.87932	D	0	.	14.7241	0.69329	0.0:0.0:1.0:0.0	.	71	Q10981	FUT2_HUMAN	H	71	ENSP00000430227:R71H;ENSP00000387498:R71H;ENSP00000375748:R71H	ENSP00000375748:R71H	R	+	2	0	FUT2	53898237	1.000000	0.71417	0.999000	0.59377	0.801000	0.45260	5.966000	0.70395	2.131000	0.65755	0.549000	0.68633	CGC		0.622	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378731.2	NM_000511	
GYS1	2997	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	49473833	49473833	+	Silent	SNP	G	G	A	rs372542706		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:49473833G>A	ENST00000323798.3	-	14	1975	c.1779C>T	c.(1777-1779)tcC>tcT	p.S593S	GYS1_ENST00000541188.1_Silent_p.S513S|GYS1_ENST00000263276.6_Silent_p.S529S|GYS1_ENST00000544287.1_Silent_p.S226S	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	593					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CCAGAAGGTCGGAGAGGCGCT	0.597											OREG0025611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0								G	,	1,4405	2.1+/-5.4	0,1,2202	33.0	37.0	36.0		1587,1779	-10.4	0.1	19		36	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GYS1	NM_001161587.1,NM_002103.4	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	529/674,593/738	49473833	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2997				CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1779C>T	19.37:g.49473833G>A		Somatic	962	WXS	Illumina HiSeq	Phase_I	Q9BTT9	Silent	SNP	ENST00000323798.3	37	CCDS12747.1																																																																																				0.597	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103	
NTF4	4909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	49564657	49564657	+	Missense_Mutation	SNP	C	C	T	rs200081067		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:49564657C>T	ENST00000593537.1	-	1	597	c.598G>A	c.(598-600)Gtc>Atc	p.V200I	CTB-60B18.18_ENST00000599209.1_lincRNA|NTF4_ENST00000451356.2_Intron|CGB7_ENST00000356213.4_5'Flank|NTF4_ENST00000301411.3_Missense_Mutation_p.V200I|CTB-60B18.12_ENST00000597865.1_RNA|CGB7_ENST00000597853.1_5'Flank|NTF4_ENST00000594938.1_5'Flank			P34130	NTF4_HUMAN	neurotrophin 4	200					adult locomotory behavior (GO:0008344)|epidermis development (GO:0008544)|ganglion mother cell fate determination (GO:0007402)|innervation (GO:0060384)|long-term memory (GO:0007616)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell death (GO:0060548)|sensory organ boundary specification (GO:0008052)|taste bud development (GO:0061193)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	growth factor activity (GO:0008083)			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		AGTGTGCAGACGCAGGCAGTG	0.602																																						.											0													37.0	34.0	35.0					19																	49564657		2203	4300	6503	SO:0001583	missense	4909				CCDS12754.1	19q13.3	2014-01-30	2008-01-31	2008-01-31		ENSG00000225950		"""Endogenous ligands"""	8024	protein-coding gene	gene with protein product	"""neurotrophic factor 4"""	162662	"""neurotrophin 5 (neurotrophin 4/5)"""	NTF5		1496419	Standard	NM_006179		Approved	NT-4/5, GLC1O	uc010yah.1	P34130		ENST00000593537.1:c.598G>A	19.37:g.49564657C>T	ENSP00000469455:p.Val200Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q6FH56	Missense_Mutation	SNP	ENST00000593537.1	37	CCDS12754.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387981	0.82902	.	.	ENSG00000167744	ENST00000301411	T	0.72835	-0.69	3.27	3.27	0.37495	Nerve growth factor-related (5);	0.000000	0.64402	D	0.000013	T	0.78168	0.4241	M	0.64170	1.965	0.54753	D	0.999981	D	0.76494	0.999	P	0.58454	0.839	T	0.82067	-0.0641	10	0.87932	D	0	-2.3554	14.4638	0.67470	0.0:1.0:0.0:0.0	.	200	P34130	NTF4_HUMAN	I	200	ENSP00000301411:V200I	ENSP00000301411:V200I	V	-	1	0	NTF4	54256469	1.000000	0.71417	0.995000	0.50966	0.883000	0.51084	7.450000	0.80656	2.150000	0.67090	0.313000	0.20887	GTC		0.602	NTF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466258.1	NM_006179	
AP2A1	160	hgsc.bcm.edu	37	19	50305240	50305240	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:50305240G>A	ENST00000359032.5	+	15	1956	c.1956G>A	c.(1954-1956)tcG>tcA	p.S652S	AP2A1_ENST00000354293.5_Silent_p.S652S	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	652					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TCCTACAGTCGACGCCCTCGC	0.731																																						.											0													5.0	7.0	6.0					19																	50305240		1835	3913	5748	SO:0001819	synonymous_variant	160			AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.1956G>A	19.37:g.50305240G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q96CI7|Q96PP6|Q96PP7|Q9H070	Silent	SNP	ENST00000359032.5	37	CCDS46148.1																																																																																				0.731	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1		
MYH14	79784	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	19	50760714	50760714	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:50760714C>T	ENST00000596571.1	+	15	2080	c.2080C>T	c.(2080-2082)Cgc>Tgc	p.R694C	MYH14_ENST00000425460.1_Missense_Mutation_p.R702C|MYH14_ENST00000376970.2_Missense_Mutation_p.R727C|MYH14_ENST00000601313.1_Missense_Mutation_p.R735C|MYH14_ENST00000262269.8_Missense_Mutation_p.R735C|MYH14_ENST00000440075.2_Missense_Mutation_p.R735C|MYH14_ENST00000598205.1_Missense_Mutation_p.R702C			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	694	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CAGTTTTGTCCGCTGCATTGT	0.612																																						.											0													31.0	34.0	33.0					19																	50760714		2136	4251	6387	SO:0001583	missense	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.2080C>T	19.37:g.50760714C>T	ENSP00000472819:p.Arg694Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660691	0.88154	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	4.51	4.51	0.55191	Myosin head, motor domain (2);	.	.	.	.	D	0.97315	0.9122	H	0.98701	4.305	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.996	D	0.98463	1.0597	9	0.87932	D	0	.	15.1131	0.72375	0.0:1.0:0.0:0.0	.	735;694;702	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	C	694;735;727;702;694;735	ENSP00000406273:R735C;ENSP00000366169:R727C;ENSP00000407879:R702C;ENSP00000262269:R735C	ENSP00000262269:R735C	R	+	1	0	MYH14	55452526	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.546000	0.82137	2.520000	0.84964	0.655000	0.94253	CGC		0.612	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729	
SIGLEC7	27036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	51646040	51646040	+	Silent	SNP	G	G	A	rs541602063		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:51646040G>A	ENST00000317643.6	+	1	483	c.414G>A	c.(412-414)caG>caA	p.Q138Q	SIGLEC7_ENST00000305628.7_Silent_p.Q138Q|SIGLEC7_ENST00000600577.1_Silent_p.Q138Q	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	138					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		AATATGACCAGCTCTCTGTGA	0.483													.|||	1	0.000199681	0.0	0.0	5008	,	,		20713	0.001		0.0	False		,,,				2504	0.0					.											0													68.0	73.0	71.0					19																	51646040		2203	4300	6503	SO:0001819	synonymous_variant	27036			AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.414G>A	19.37:g.51646040G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Silent	SNP	ENST00000317643.6	37	CCDS12826.1																																																																																				0.483	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	NM_016543	
CD33	945	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	51738931	51738931	+	Splice_Site	SNP	G	G	A	rs111722079		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:51738931G>A	ENST00000262262.4	+	6	945	c.924G>A	c.(922-924)ccG>ccA	p.P308P	CD33_ENST00000436584.2_Silent_p.P181P|CD33_ENST00000391796.3_Splice_Site_p.P308P|CD33_ENST00000421133.2_Splice_Site_p.P181P	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	308					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CAGCCTCCCCGGTGAGTGATG	0.597													g|||	1	0.000199681	0.0	0.0	5008	,	,		16666	0.0		0.001	False		,,,				2504	0.0					.											0								G	,,	0,4406		0,0,2203	68.0	58.0	61.0		543,924,924	2.7	0.8	19	dbSNP_132	61	8,8588	6.4+/-24.3	0,8,4290	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	CD33	NM_001082618.1,NM_001177608.1,NM_001772.3	,,	0,8,6493	AA,AG,GG		0.0931,0.0,0.0615	,,	181/238,308/311,308/365	51738931	8,12994	2203	4298	6501	SO:0001630	splice_region_variant	945			M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1659	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 3"""	159590	"""CD33 antigen (gp67)"""			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.924+1G>A	19.37:g.51738931G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4E3P8|C9JEN7|F8WAL2|Q8TD24	Silent	SNP	ENST00000262262.4	37	CCDS33084.1																																																																																				0.597	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772	Silent
HAS1	3036	hgsc.bcm.edu	37	19	52217097	52217097	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:52217097G>A	ENST00000222115.1	-	5	1354	c.1320C>T	c.(1318-1320)ggC>ggT	p.G440G	HAS1_ENST00000601714.1_Silent_p.G447G|HAS1_ENST00000540069.2_Silent_p.G439G	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	440					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCAGTGCCACGCCCTGCACGC	0.697																																					NSCLC(132;636 2450 45807 47979)	.											0													21.0	21.0	21.0					19																	52217097		2188	4289	6477	SO:0001819	synonymous_variant	3036			U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1320C>T	19.37:g.52217097G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q14470|Q9NS49	Silent	SNP	ENST00000222115.1	37	CCDS12838.1																																																																																				0.697	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523	
TSEN34	79042	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	19	54696083	54696083	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:54696083T>C	ENST00000396383.1	+	4	915	c.604T>C	c.(604-606)Tgg>Cgg	p.W202R	TSEN34_ENST00000429671.2_Missense_Mutation_p.W202R|TSEN34_ENST00000302937.4_Missense_Mutation_p.W202R|MBOAT7_ENST00000431666.2_5'Flank|MBOAT7_ENST00000245615.1_5'Flank|MBOAT7_ENST00000474910.1_5'Flank|MBOAT7_ENST00000338624.6_5'Flank|TSEN34_ENST00000396388.2_Missense_Mutation_p.W202R|MBOAT7_ENST00000391754.1_5'Flank|CTD-3093M3.1_ENST00000594382.1_lincRNA			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	202					mRNA processing (GO:0006397)|tRNA-type intron splice site recognition and cleavage (GO:0000379)	tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCCCTGGACTGGCGTGTCCA	0.647																																					Esophageal Squamous(37;841 964 4869 42824)	.											0													53.0	56.0	55.0					19																	54696083		1873	4083	5956	SO:0001583	missense	79042			AF211970	CCDS42609.1, CCDS74446.1	19q13.4	2013-08-06	2013-08-06	2005-03-12	ENSG00000170892	ENSG00000170892		"""tRNA splicing endonuclease subunits"""	15506	protein-coding gene	gene with protein product		608754	"""leukocyte receptor cluster (LRC) member 5"", ""tRNA splicing endonuclease 34 homolog (SEN34, S. cerevisiae)"", ""tRNA splicing endonuclease 34 homolog (S. cerevisiae)"""	LENG5		10941842, 15109492	Standard	NM_024075		Approved	SEN34, SEN34L	uc002qdw.3	Q9BSV6	OTTHUMG00000066515	ENST00000396383.1:c.604T>C	19.37:g.54696083T>C	ENSP00000379667:p.Trp202Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A6NNB1|B0V3J1|Q9BVT1|Q9H6H5	Missense_Mutation	SNP	ENST00000396383.1	37	CCDS42609.1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.054183	0.36277	.	.	ENSG00000170892	ENST00000455798;ENST00000456872;ENST00000302937;ENST00000429671;ENST00000396383;ENST00000396388	T;T;T;T;T;T	0.62941	-0.01;0.02;0.03;0.02;0.03;0.03	4.56	4.56	0.56223	.	0.135233	0.53938	D	0.000042	T	0.41534	0.1163	N	0.24115	0.695	0.33529	D	0.593424	B;B	0.31968	0.15;0.349	B;B	0.24848	0.041;0.056	T	0.50701	-0.8797	10	0.10377	T	0.69	.	11.7599	0.51896	0.0:0.0:0.0:1.0	.	202;202	E7EQB3;Q9BSV6	.;SEN34_HUMAN	R	202;205;202;202;202;202	ENSP00000400743:W202R;ENSP00000408689:W205R;ENSP00000305524:W202R;ENSP00000397402:W202R;ENSP00000379667:W202R;ENSP00000379671:W202R	ENSP00000305524:W202R	W	+	1	0	TSEN34	59387895	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.144000	0.31565	1.842000	0.53543	0.459000	0.35465	TGG		0.647	TSEN34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142200.1	NM_024075	
LONP1	9361	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	5707746	5707746	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:5707746C>T	ENST00000360614.3	-	6	1181	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	LONP1_ENST00000585374.1_Missense_Mutation_p.E228K|LONP1_ENST00000540670.2_Missense_Mutation_p.E146K|LONP1_ENST00000590729.1_Missense_Mutation_p.E212K|LONP1_ENST00000593119.1_Missense_Mutation_p.E278K	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCATGGGACTCGGCCCCGGTG	0.662																																						.											0													58.0	60.0	59.0					19																	5707746		2203	4300	6503	SO:0001583	missense	9361			U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"""ATPases / AAA-type"", ""Serine peptidases / Serine peptidases"""	9479	protein-coding gene	gene with protein product		605490	"""protease, serine, 15"""	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.1024G>A	19.37:g.5707746C>T	ENSP00000353826:p.Glu342Lys	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000360614.3	37	CCDS12148.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652507	0.67472	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.41400	1.0;1.0	4.63	3.57	0.40892	Peptidase S16, lon N-terminal (2);	0.051787	0.85682	D	0.000000	T	0.56934	0.2019	M	0.85041	2.73	0.58432	D	0.999999	D;P;D	0.55800	0.973;0.951;0.973	P;P;P	0.55087	0.768;0.768;0.768	T	0.58769	-0.7578	10	0.27785	T	0.31	-44.5514	10.9772	0.47473	0.0:0.9037:0.0:0.0963	.	342;278;342	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	K	342;306;146	ENSP00000353826:E342K;ENSP00000441523:E146K	ENSP00000351177:E306K	E	-	1	0	LONP1	5658746	1.000000	0.71417	0.991000	0.47740	0.223000	0.24884	7.368000	0.79567	2.111000	0.64477	0.555000	0.69702	GAG		0.662	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793	
SSC5D	284297	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	56011928	56011928	+	Missense_Mutation	SNP	C	C	T	rs371786822	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:56011928C>T	ENST00000389623.6	+	11	2397	c.2374C>T	c.(2374-2376)Cgc>Tgc	p.R792C	SSC5D_ENST00000587166.1_Missense_Mutation_p.R792C	NM_001144950.1	NP_001138422.1	A1L4H1	SRCRL_HUMAN	scavenger receptor cysteine rich family, 5 domains	792	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterial lipoprotein (GO:0042494)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of interleukin-8 secretion (GO:2000483)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|intracellular (GO:0005622)|membrane (GO:0016020)	extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|skin(2)	4						GCATGCCGGACGCTGGGGAAC	0.652													C|||	2	0.000399361	0.0	0.0	5008	,	,		16771	0.001		0.001	False		,,,				2504	0.0					.											0								C	CYS/ARG,CYS/ARG	1,1383		0,1,691	54.0	55.0	55.0		2374,2374	2.4	0.3	19	dbSNP_134	55	0,3182		0,0,1591	no	missense,missense	SSC5D	NM_001144950.1,NM_001195267.1	180,180	0,1,2282	TT,TC,CC		0.0,0.0723,0.0219	probably-damaging,probably-damaging	792/1574,792/952	56011928	1,4565	692	1591	2283	SO:0001583	missense	284297				CCDS46196.1, CCDS59424.1	19q13.42	2014-07-09	2014-07-09		ENSG00000179954	ENSG00000179954			26641	protein-coding gene	gene with protein product	"""soluble scavenger with 5 domains"""		"""scavenger receptor cysteine rich domain containing (5 domains)"""			19535143	Standard	NM_001144950		Approved	FLJ35258	uc002qlg.4	A1L4H1		ENST00000389623.6:c.2374C>T	19.37:g.56011928C>T	ENSP00000374274:p.Arg792Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B5MDQ5|C7S7T9|C7S7U0|K7EP70	Missense_Mutation	SNP	ENST00000389623.6	37	CCDS46196.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936300	0.52972	7.23E-4	0.0	ENSG00000179954	ENST00000389623;ENST00000541230	T	0.37752	1.18	4.7	2.41	0.29592	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.50274	0.1606	M	0.87971	2.92	0.09310	N	1	D	0.59767	0.986	P	0.51229	0.663	T	0.42616	-0.9441	9	0.54805	T	0.06	.	7.6888	0.28557	0.0:0.6389:0.2641:0.0969	.	792	A1L4H1	SRCRL_HUMAN	C	792	ENSP00000374274:R792C	ENSP00000374274:R792C	R	+	1	0	SSC5D	60703740	0.000000	0.05858	0.277000	0.24703	0.975000	0.68041	-0.111000	0.10807	1.113000	0.41760	0.549000	0.68633	CGC		0.652	SSC5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453345.2	XM_001718392	
BSG	682	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	579590	579590	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:579590A>G	ENST00000333511.3	+	3	576	c.506A>G	c.(505-507)cAc>cGc	p.H169R	BSG_ENST00000353555.4_Missense_Mutation_p.H53R|BSG_ENST00000545507.2_5'UTR|BSG_ENST00000574970.1_3'UTR|BSG_ENST00000346916.4_Intron	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	169	Ig-like C2-type.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCACAGGGCACCGCTGGCTG	0.627																																						.											0													61.0	53.0	56.0					19																	579590		2202	4298	6500	SO:0001583	missense	682			L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1116	protein-coding gene	gene with protein product	"""Ok blood group"""	109480	"""basigin"""	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.506A>G	19.37:g.579590A>G	ENSP00000333769:p.His169Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP	ENST00000333511.3	37	CCDS12033.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.405786	0.42715	.	.	ENSG00000172270	ENST00000333511;ENST00000353555	T;T	0.13307	2.6;3.12	4.24	4.24	0.50183	Immunoglobulin-like (1);	0.179527	0.48286	D	0.000188	T	0.35393	0.0930	M	0.83483	2.645	0.42996	D	0.994508	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.999;0.997	T	0.18116	-1.0347	10	0.25106	T	0.35	-53.7606	9.7618	0.40537	1.0:0.0:0.0:0.0	.	53;169;53;169	P35613-2;B4DNE1;Q54A51;P35613	.;.;.;BASI_HUMAN	R	169;53	ENSP00000333769:H169R;ENSP00000343809:H53R	ENSP00000333769:H169R	H	+	2	0	BSG	530590	1.000000	0.71417	0.654000	0.29608	0.144000	0.21451	2.723000	0.47277	1.570000	0.49709	0.454000	0.30748	CAC		0.627	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438630.2	NM_001728	
ARHGEF18	23370	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	7505040	7505040	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:7505040C>T	ENST00000359920.6	+	1	467	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	ARHGEF18_ENST00000319670.9_Intron|CTD-2207O23.3_ENST00000593531.1_Intron	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	72					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R72C(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCTCCCCGGCCGCCCCGAGCT	0.662																																						.											1	Substitution - Missense(1)	endometrium(1)											18.0	23.0	21.0					19																	7505040		692	1591	2283	SO:0001583	missense	23370			AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.214C>T	19.37:g.7505040C>T	ENSP00000352995:p.Arg72Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	C	9.017	0.983984	0.18889	.	.	ENSG00000104880	ENST00000359920	T	0.31769	1.48	5.49	4.44	0.53790	.	0.551628	0.15055	N	0.283090	T	0.22589	0.0545	N	0.12182	0.205	0.35488	D	0.798702	D	0.65815	0.995	B	0.44315	0.446	T	0.34725	-0.9817	10	0.87932	D	0	-1.0871	13.9825	0.64313	0.0:0.8471:0.1529:0.0	.	72	Q6ZSZ5	ARHGI_HUMAN	C	72	ENSP00000352995:R72C	ENSP00000352995:R72C	R	+	1	0	ARHGEF18	7411040	0.914000	0.31030	0.068000	0.19968	0.180000	0.23129	1.808000	0.38912	1.289000	0.44618	0.561000	0.74099	CGC		0.662	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318	
PNPLA6	10908	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	7606949	7606949	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:7606949C>T	ENST00000221249.6	+	13	1562	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	PNPLA6_ENST00000545201.2_Silent_p.I377I|PNPLA6_ENST00000414982.3_Silent_p.I425I|PNPLA6_ENST00000450331.3_Silent_p.I377I|PNPLA6_ENST00000600737.1_Silent_p.I416I	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	416					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CAGGGGACATCTCAGGTTTGG	0.597																																						.											0													42.0	41.0	41.0					19																	7606949		2203	4300	6503	SO:0001819	synonymous_variant	10908			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1131C>T	19.37:g.7606949C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	ENST00000221249.6	37	CCDS32891.1																																																																																				0.597	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702	
FBN3	84467	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	8201286	8201286	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:8201286C>T	ENST00000600128.1	-	11	1745	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	FBN3_ENST00000601739.1_Missense_Mutation_p.R444H|FBN3_ENST00000270509.2_Missense_Mutation_p.R444H			Q75N90	FBN3_HUMAN	fibrillin 3	444	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCACTCGCCGCGCACGTCCTG	0.647																																						.											0													73.0	68.0	69.0					19																	8201286		2203	4300	6503	SO:0001583	missense	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1331G>A	19.37:g.8201286C>T	ENSP00000470498:p.Arg444His	Somatic		WXS	Illumina HiSeq	Phase_I	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	14.65	2.598035	0.46318	.	.	ENSG00000142449	ENST00000270509	T	0.29917	1.55	4.4	2.25	0.28309	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	T	0.17704	0.0425	L	0.37466	1.105	0.31353	N	0.682257	P	0.49253	0.921	B	0.31869	0.137	T	0.15350	-1.0440	10	0.45353	T	0.12	.	10.0282	0.42085	0.0:0.8332:0.0:0.1668	.	444	Q75N90	FBN3_HUMAN	H	444	ENSP00000270509:R444H	ENSP00000270509:R444H	R	-	2	0	FBN3	8107286	0.908000	0.30866	0.002000	0.10522	0.009000	0.06853	2.777000	0.47717	0.313000	0.23062	0.462000	0.41574	CGC		0.647	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
ZNF805	390980	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	19	57765510	57765510	+	Silent	SNP	T	T	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:57765510T>G	ENST00000414468.2	+	4	1323	c.1323T>G	c.(1321-1323)acT>acG	p.T441T	ZNF805_ENST00000535550.1_Silent_p.T308T|ZNF805_ENST00000354309.4_Silent_p.T308T	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	441					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						ACTGCTCTACTTTCATCTTGC	0.498																																						.											0													48.0	49.0	49.0					19																	57765510		692	1591	2283	SO:0001819	synonymous_variant	390980			AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"""Zinc fingers, C2H2-type"", ""-"""	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.1323T>G	19.37:g.57765510T>G		Somatic		WXS	Illumina HiSeq	Phase_I	B4DNM5	Silent	SNP	ENST00000414468.2	37	CCDS46207.1																																																																																				0.498	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465722.1	NM_001023563	
AGRN	375790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	985016	985016	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:985016C>T	ENST00000379370.2	+	26	4635	c.4585C>T	c.(4585-4587)Cgc>Tgc	p.R1529C		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1529	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)		CAACAACCAGCGCCTGGAGCT	0.731																																						.											0													12.0	16.0	14.0					1																	985016		2180	4279	6459	SO:0001583	missense	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.4585C>T	1.37:g.985016C>T	ENSP00000368678:p.Arg1529Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	c	11.61	1.689710	0.29962	.	.	ENSG00000188157	ENST00000379370	T	0.75938	-0.98	4.34	2.3	0.28687	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, subdomain 1 (1);	1.296030	0.05695	U	0.593034	T	0.68320	0.2988	L	0.42245	1.32	0.09310	N	1	P	0.43431	0.807	B	0.41088	0.347	T	0.60910	-0.7169	10	0.51188	T	0.08	-6.052	8.2735	0.31857	0.2411:0.63:0.1289:0.0	.	1529	O00468	AGRIN_HUMAN	C	1529	ENSP00000368678:R1529C	ENSP00000368678:R1529C	R	+	1	0	AGRN	974879	0.006000	0.16342	0.917000	0.36280	0.023000	0.10783	0.566000	0.23593	2.145000	0.66743	0.298000	0.19748	CGC		0.731	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576	
MYO1F	4542	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	8592315	8592315	+	Missense_Mutation	SNP	C	C	T	rs201723456	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:8592315C>T	ENST00000338257.8	-	22	2648	c.2381G>A	c.(2380-2382)cGa>cAa	p.R794Q		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	794	Myosin tail. {ECO:0000255}.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CACTTTCTCTCGCCCAATCAC	0.562													C|||	2	0.000399361	0.0008	0.0	5008	,	,		21929	0.0		0.0	False		,,,				2504	0.001					.											0								C	GLN/ARG	0,4020		0,0,2010	83.0	84.0	83.0		2381	5.2	1.0	19		83	1,8367		0,1,4183	no	missense	MYO1F	NM_012335.3	43	0,1,6193	TT,TC,CC		0.012,0.0,0.0081	possibly-damaging	794/1099	8592315	1,12387	2010	4184	6194	SO:0001583	missense	4542			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2381G>A	19.37:g.8592315C>T	ENSP00000344871:p.Arg794Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	CCDS42494.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	27.9	4.876209	0.91664	0.0	1.2E-4	ENSG00000142347	ENST00000305795;ENST00000338257	T	0.35973	1.28	5.16	5.16	0.70880	Myosin tail 2 (1);	0.000000	0.64402	D	0.000001	T	0.32675	0.0837	L	0.52126	1.63	0.80722	D	1	P	0.39022	0.655	B	0.34489	0.184	T	0.08994	-1.0695	10	0.21014	T	0.42	.	17.7053	0.88308	0.0:1.0:0.0:0.0	.	794	O00160	MYO1F_HUMAN	Q	839;794	ENSP00000344871:R794Q	ENSP00000304899:R839Q	R	-	2	0	MYO1F	8498315	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.773000	0.62331	2.430000	0.82344	0.456000	0.33151	CGA		0.562	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2		
OLFM2	93145	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	9967485	9967485	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:9967485G>A	ENST00000264833.4	-	5	870	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	OLFM2_ENST00000590841.1_Missense_Mutation_p.R151W	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	229	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TCACTCACCCGGCTATCCGCA	0.647																																						.											0													22.0	22.0	22.0					19																	9967485		2202	4300	6502	SO:0001583	missense	93145			AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.685C>T	19.37:g.9967485G>A	ENSP00000264833:p.Arg229Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	37	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839856	0.71488	.	.	ENSG00000105088	ENST00000264833	D	0.89746	-2.56	4.45	3.4	0.38934	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.94251	0.8154	M	0.88704	2.975	0.53688	D	0.99997	D	0.89917	1.0	D	0.91635	0.999	D	0.93817	0.7115	9	.	.	.	.	9.735	0.40382	0.0:0.0:0.6267:0.3732	.	229	O95897	NOE2_HUMAN	W	229	ENSP00000264833:R229W	.	R	-	1	2	OLFM2	9828485	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	0.534000	0.23098	1.069000	0.40788	0.563000	0.77884	CGG		0.647	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1		
MACROD2	140733	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	16021924	16021924	+	Splice_Site	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:16021924G>A	ENST00000310348.4	+	16	1231		c.e16+1		MACROD2_ENST00000378058.3_Splice_Site|MACROD2_ENST00000407045.3_Splice_Site|MACROD2_ENST00000217246.4_Splice_Site|MACROD2_ENST00000402914.1_Splice_Site			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2						brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GGTCCTGATGGTAAGGTTCTG	0.443																																						.											0													65.0	65.0	65.0					20																	16021924		2203	4299	6502	SO:0001630	splice_region_variant	140733			BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.1231+1G>A	20.37:g.16021924G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Splice_Site	SNP	ENST00000310348.4	37	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926267	0.34002	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058;ENST00000407045	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3828	0.83481	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MACROD2	15969924	1.000000	0.71417	0.998000	0.56505	0.191000	0.23601	5.251000	0.65438	2.679000	0.91253	0.655000	0.94253	.		0.443	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676	Intron
OVOL2	58495	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	20	18022295	18022295	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:18022295G>A	ENST00000278780.6	-	3	636	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	132					angiogenesis (GO:0001525)|dorsal/ventral pattern formation (GO:0009953)|embryonic digestive tract morphogenesis (GO:0048557)|endocardium formation (GO:0060214)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of keratinocyte proliferation (GO:0010837)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TTCAGCATGCGCTGCAGACGG	0.597																																						.											0													126.0	82.0	97.0					20																	18022295		2203	4300	6503	SO:0001583	missense	58495			AK022284	CCDS13132.1	20p11.23	2013-10-17	2013-10-17	2005-05-31	ENSG00000125850	ENSG00000125850		"""Zinc fingers, C2H2-type"""	15804	protein-coding gene	gene with protein product			"""zinc finger protein 339"", ""ovo-like 2 (Drosophila)"""	ZNF339			Standard	NM_021220		Approved	bA504H3.3, HOVO2	uc002wqi.1	Q9BRP0	OTTHUMG00000031960	ENST00000278780.6:c.394C>T	20.37:g.18022295G>A	ENSP00000278780:p.Arg132Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T8B4|Q9BX22|Q9HA54|Q9Y4M0	Missense_Mutation	SNP	ENST00000278780.6	37	CCDS13132.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645835	0.87958	.	.	ENSG00000125850	ENST00000278780	T	0.76709	-1.04	5.57	4.59	0.56863	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.82416	0.5032	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.83289	-0.0034	10	0.56958	D	0.05	-48.5453	14.8485	0.70277	0.0:0.0:0.7425:0.2575	.	132	Q9BRP0	OVOL2_HUMAN	C	132	ENSP00000278780:R132C	ENSP00000278780:R132C	R	-	1	0	OVOL2	17970295	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.724000	0.61972	2.624000	0.88883	0.655000	0.94253	CGC		0.597	OVOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078148.5	NM_021220	
ZNF133	7692	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	18287023	18287023	+	Missense_Mutation	SNP	C	C	T	rs149645929		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:18287023C>T	ENST00000316358.4	+	3	300	c.203C>T	c.(202-204)cCg>cTg	p.P68L	ZNF133_ENST00000535822.1_5'UTR|ZNF133_ENST00000538547.1_Intron|ZNF133_ENST00000377671.3_Missense_Mutation_p.P68L|ZNF133_ENST00000401790.1_Missense_Mutation_p.P68L|ZNF133_ENST00000396026.3_Missense_Mutation_p.P71L|ZNF133_ENST00000402618.2_5'UTR	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	68	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						AAATGTTCACCGGCAACCTGT	0.507																																						.											0								C	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	51.0	50.0	51.0		203,203	-3.0	0.0	20	dbSNP_134	51	0,8600		0,0,4300	no	missense,missense	ZNF133	NM_001083330.1,NM_003434.4	98,98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	68/654,68/654	18287023	1,13005	2203	4300	6503	SO:0001583	missense	7692			AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.203C>T	20.37:g.18287023C>T	ENSP00000346090:p.Pro68Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Missense_Mutation	SNP	ENST00000316358.4	37		.	.	.	.	.	.	.	.	.	.	C	3.466	-0.108858	0.06924	2.27E-4	0.0	ENSG00000125846	ENST00000377671;ENST00000360010;ENST00000396026;ENST00000401790;ENST00000434018;ENST00000316358;ENST00000425686	T;T;T;T;T;T;T	0.05996	3.39;5.52;3.36;3.36;5.59;3.36;5.58	4.49	-2.96	0.05547	Krueppel-associated box (1);	0.996321	0.08125	N	0.994047	T	0.02807	0.0084	N	0.13299	0.325	0.09310	N	0.999999	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.06405	0.001;0.001;0.002	T	0.48198	-0.9056	10	0.10636	T	0.68	-1.5162	3.469	0.07561	0.4587:0.2608:0.0:0.2805	.	71;68;68	B4DHU7;P52736;P52736-2	.;ZN133_HUMAN;.	L	68;68;71;68;68;68;68	ENSP00000366899:P68L;ENSP00000353105:P68L;ENSP00000400897:P71L;ENSP00000383945:P68L;ENSP00000403835:P68L;ENSP00000346090:P68L;ENSP00000406638:P68L	ENSP00000346090:P68L	P	+	2	0	ZNF133	18235023	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.090000	0.11163	-0.266000	0.09339	-0.136000	0.14681	CCG		0.507	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	NM_003434	
TMC2	117532	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	2560637	2560637	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:2560637C>T	ENST00000358864.1	+	7	784	c.769C>T	c.(769-771)Cga>Tga	p.R257*		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	257					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CATCTTTCTCCGATGGATGTA	0.398																																						.											0													243.0	210.0	221.0					20																	2560637		2203	4300	6503	SO:0001587	stop_gained	117532			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.769C>T	20.37:g.2560637C>T	ENSP00000351732:p.Arg257*	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Nonsense_Mutation	SNP	ENST00000358864.1	37	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	C	37	6.154665	0.97329	.	.	ENSG00000149488	ENST00000358864	.	.	.	5.12	4.14	0.48551	.	0.139429	0.47852	D	0.000214	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4483	10.8042	0.46507	0.3434:0.6566:0.0:0.0	.	.	.	.	X	257	.	ENSP00000351732:R257X	R	+	1	2	TMC2	2508637	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.957000	0.49137	1.232000	0.43678	0.563000	0.77884	CGA		0.398	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2		
NKX2-4	644524	hgsc.bcm.edu;ucsc.edu	37	20	21376975	21376975	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:21376975G>A	ENST00000351817.4	-	2	1267	c.639C>T	c.(637-639)taC>taT	p.Y213Y	RP11-227D2.3_ENST00000552439.1_RNA|RP11-227D2.3_ENST00000419666.2_RNA	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	213					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|upper_aerodigestive_tract(1)	3						GCGCCGACAGGTACTTCTGCT	0.667																																						.											0													30.0	31.0	31.0					20																	21376975		2202	4299	6501	SO:0001819	synonymous_variant	644524				CCDS42855.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125816	ENSG00000125816		"""Homeoboxes / ANTP class : NKL subclass"""	7837	protein-coding gene	gene with protein product		607808	"""NK-2 (Drosophila) homolog D"", ""NK2 transcription factor related, locus 4 (Drosophila)"""	NKX2D		1346742, 10818213	Standard	NM_033176		Approved	NKX2.4	uc010gcz.3	Q9H2Z4	OTTHUMG00000032022	ENST00000351817.4:c.639C>T	20.37:g.21376975G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5VZV8	Silent	SNP	ENST00000351817.4	37	CCDS42855.1																																																																																				0.667	NKX2-4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078270.2		
COX4I2	84701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	20	30231238	30231238	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:30231238G>A	ENST00000376075.3	+	4	354	c.279G>A	c.(277-279)gcG>gcA	p.A93A	COX4I2_ENST00000490030.1_Intron	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	93					cellular respiration (GO:0045333)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)	mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			AGACCTTTGCGGAGATGAACC	0.567																																						.											0													187.0	151.0	163.0					20																	30231238		2203	4300	6503	SO:0001819	synonymous_variant	84701			AF257180	CCDS13187.1	20q11.21	2011-07-04	2004-08-11		ENSG00000131055	ENSG00000131055		"""Mitochondrial respiratory chain complex / Complex IV"""	16232	protein-coding gene	gene with protein product	"""cytochrome c oxidase subunit IV-like 2"""	607976	"""cytochrome c oxidase subunit IV isoform 2"""	COX4L2		11311561, 17937768	Standard	NM_032609		Approved	COXIV-2, COX4B, dJ857M17.2, COX4-2	uc002wwj.1	Q96KJ9	OTTHUMG00000032180	ENST00000376075.3:c.279G>A	20.37:g.30231238G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6GTF4|Q9H0Z4	Silent	SNP	ENST00000376075.3	37	CCDS13187.1																																																																																				0.567	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078548.1	NM_032609	
SLC32A1	140679	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	37353701	37353701	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:37353701G>A	ENST00000217420.1	+	1	597	c.334G>A	c.(334-336)Gac>Aac	p.D112N		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	112					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CGGGGGCCACGACAAGCCCAA	0.652																																						.											0													43.0	47.0	45.0					20																	37353701		2151	4231	6382	SO:0001583	missense	140679			AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.334G>A	20.37:g.37353701G>A	ENSP00000217420:p.Asp112Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979286	0.74360	.	.	ENSG00000101438	ENST00000217420	T	0.06933	3.24	5.09	5.09	0.68999	.	0.235220	0.42420	D	0.000720	T	0.04182	0.0116	N	0.08118	0	0.49051	D	0.999741	P	0.34724	0.465	B	0.23716	0.048	T	0.54423	-0.8296	10	0.17369	T	0.5	-37.7686	15.968	0.79987	0.0:0.0:1.0:0.0	.	112	Q9H598	VIAAT_HUMAN	N	112	ENSP00000217420:D112N	ENSP00000217420:D112N	D	+	1	0	SLC32A1	36787115	1.000000	0.71417	0.990000	0.47175	0.852000	0.48524	9.583000	0.98217	2.365000	0.80145	0.561000	0.74099	GAC		0.652	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552	
PPP1R16B	26051	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	37529279	37529279	+	Missense_Mutation	SNP	G	G	A	rs139690056	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:37529279G>A	ENST00000299824.1	+	5	712	c.523G>A	c.(523-525)Gag>Aag	p.E175K	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E175K	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	175					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				TGACCTCTGCGAGGATGAACC	0.572																																						.											0								G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	159.0	104.0	123.0		523,523	5.0	1.0	20	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	PPP1R16B	NM_001172735.1,NM_015568.2	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	175/526,175/568	37529279	1,13005	2203	4300	6503	SO:0001583	missense	26051			AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.523G>A	20.37:g.37529279G>A	ENSP00000299824:p.Glu175Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	CCDS13309.1	.	.	.	.	.	.	.	.	.	.	G	36	5.767257	0.96914	0.0	1.16E-4	ENSG00000101445	ENST00000299824;ENST00000373331	T;T	0.52754	0.65;0.65	4.98	4.98	0.66077	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.67392	0.2888	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.957;0.98	T	0.65829	-0.6073	10	0.42905	T	0.14	.	18.8173	0.92081	0.0:0.0:1.0:0.0	.	175;175	E9PFS8;Q96T49	.;PP16B_HUMAN	K	175	ENSP00000299824:E175K;ENSP00000362428:E175K	ENSP00000299824:E175K	E	+	1	0	PPP1R16B	36962693	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	9.657000	0.98554	2.746000	0.94184	0.655000	0.94253	GAG		0.572	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568	
RBCK1	10616	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	20	398443	398443	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:398443A>T	ENST00000356286.5	+	4	1034	c.329A>T	c.(328-330)gAc>gTc	p.D110V	RBCK1_ENST00000353660.3_Missense_Mutation_p.D68V|RBCK1_ENST00000382181.2_5'UTR	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	110	Interaction with IRF3.|Interaction with RNF31.|Interaction with TAB2.|Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CTGGCACGAGACCAGGAGACC	0.612																																						.											0													48.0	41.0	43.0					20																	398443		2203	4300	6503	SO:0001583	missense	10616			U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, RAN-binding domain containing"""	15864	protein-coding gene	gene with protein product	"""heme-oxidized IRP2 ubiquitin ligase 1"""	610924	"""chromosome 20 open reading frame 18"""	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.329A>T	20.37:g.398443A>T	ENSP00000348632:p.Asp110Val	Somatic		WXS	Illumina HiSeq	Phase_I	O95623|Q86SL2|Q96BS3|Q9BYM9	Missense_Mutation	SNP	ENST00000356286.5	37	CCDS13000.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.8|23.8	4.453339|4.453339	0.84209|0.84209	.|.	.|.	ENSG00000125826|ENSG00000125826	ENST00000411647;ENST00000356286;ENST00000441733;ENST00000353660;ENST00000400244;ENST00000400243|ENST00000414880	T;T;T;T|.	0.22945|.	1.93;1.93;1.93;1.93|.	4.77|4.77	4.77|4.77	0.60923|0.60923	Ubiquitin supergroup (1);|.	0.051204|.	0.85682|.	D|.	0.000000|.	T|T	0.71634|0.71634	0.3363|0.3363	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.997|.	D;D;D|.	0.91635|.	0.999;0.986;0.925|.	T|T	0.72388|0.72388	-0.4309|-0.4309	10|5	0.87932|.	D|.	0|.	-22.682|-22.682	12.5534|12.5534	0.56240|0.56240	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	100;68;110|.	B4E0F5;Q9BYM8-3;Q9BYM8|.	.;.;HOIL1_HUMAN|.	V|S	110;110;109;68;110;151|143	ENSP00000415080:D110V;ENSP00000348632:D110V;ENSP00000387799:D109V;ENSP00000254960:D68V|.	ENSP00000254960:D68V|.	D|T	+|+	2|1	0|0	RBCK1|RBCK1	346443|346443	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.134000|5.134000	0.64770|0.64770	2.131000|2.131000	0.65755|0.65755	0.374000|0.374000	0.22700|0.22700	GAC|ACC		0.612	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229	
PLCG1	5335	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	20	39801085	39801085	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:39801085A>G	ENST00000373271.1	+	26	3335	c.2930A>G	c.(2929-2931)tAc>tGc	p.Y977C	PLCG1_ENST00000373272.2_Missense_Mutation_p.Y977C|PLCG1_ENST00000608689.1_3'UTR|PLCG1_ENST00000244007.3_Missense_Mutation_p.Y977C	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	977	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CGTGCTTGCTACCGGGACATG	0.517																																						.											0													54.0	49.0	51.0					20																	39801085		2203	4300	6503	SO:0001583	missense	5335			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.2930A>G	20.37:g.39801085A>G	ENSP00000362368:p.Tyr977Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	A	14.98	2.698732	0.48307	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.53640	0.61;0.61;0.61	5.67	5.67	0.87782	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.116625	0.64402	D	0.000015	T	0.55737	0.1939	M	0.64260	1.97	0.54753	D	0.999989	B;P;B	0.35348	0.09;0.496;0.11	B;B;B	0.43728	0.067;0.429;0.111	T	0.58165	-0.7684	10	0.56958	D	0.05	.	15.9087	0.79450	1.0:0.0:0.0:0.0	.	977;977;977	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	C	977	ENSP00000244007:Y977C;ENSP00000362368:Y977C;ENSP00000362369:Y977C	ENSP00000244007:Y977C	Y	+	2	0	PLCG1	39234499	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.230000	0.51286	2.165000	0.68154	0.533000	0.62120	TAC		0.517	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811	
TBC1D20	128637	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	20	420958	420958	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:420958G>A	ENST00000354200.4	-	6	849	c.702C>T	c.(700-702)caC>caT	p.H234H	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	234	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				acrosome assembly (GO:0001675)|cargo loading into COPII-coated vesicle (GO:0090110)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|lens fiber cell morphogenesis (GO:0070309)|lipid particle organization (GO:0034389)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|seminiferous tubule development (GO:0072520)|virion assembly (GO:0019068)	endoplasmic reticulum membrane (GO:0005789)|integral component of Golgi membrane (GO:0030173)|nuclear membrane (GO:0031965)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				ACCGCACGACGTGCCTGAAGT	0.552																																						.											0													111.0	89.0	96.0					20																	420958		2203	4300	6503	SO:0001819	synonymous_variant	128637			AK055573	CCDS13002.1	20p13	2013-07-10	2005-01-05	2005-01-05	ENSG00000125875	ENSG00000125875			16133	protein-coding gene	gene with protein product		611663	"""chromosome 20 open reading frame 140"""	C20orf140		17901050	Standard	XM_005260661		Approved	dJ852M4.2	uc002wds.3	Q96BZ9	OTTHUMG00000031637	ENST00000354200.4:c.702C>T	20.37:g.420958G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K6I3|B9A6M1|Q5JWQ7|Q6ZSY8|Q96NE1|Q9BYM7|Q9H140	Silent	SNP	ENST00000354200.4	37	CCDS13002.1																																																																																				0.552	TBC1D20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251397.2	NM_144628	
LPIN3	64900	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	39980542	39980542	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:39980542C>T	ENST00000373257.3	+	8	1275	c.1184C>T	c.(1183-1185)gCg>gTg	p.A395V		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	395					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GAGAATGCAGCGCTTTACTTC	0.597																																						.											0													106.0	99.0	101.0					20																	39980542		2203	4300	6503	SO:0001583	missense	64900			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1184C>T	20.37:g.39980542C>T	ENSP00000362354:p.Ala395Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	ENST00000373257.3	37	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268312	0.80469	.	.	ENSG00000132793	ENST00000373257;ENST00000373259	D	0.86097	-2.07	5.32	3.4	0.38934	.	0.129916	0.50627	N	0.000109	D	0.91459	0.7304	M	0.83384	2.64	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.80764	0.923;0.994	D	0.90563	0.4517	9	.	.	.	-19.3926	10.7572	0.46243	0.0:0.844:0.0:0.156	.	396;395	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	V	395;59	ENSP00000362354:A395V	.	A	+	2	0	LPIN3	39413956	0.999000	0.42202	0.991000	0.47740	0.889000	0.51656	3.976000	0.56867	0.629000	0.30376	-0.222000	0.12452	GCG		0.597	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896	
MMP9	4318	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	20	44641958	44641958	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:44641958G>A	ENST00000372330.3	+	9	1414	c.1395G>A	c.(1393-1395)ccG>ccA	p.P465P	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	465					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	CGGCTCCCCCGACGGTCTGCC	0.687											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													45.0	60.0	55.0					20																	44641958		2185	4271	6456	SO:0001819	synonymous_variant	4318				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1395G>A	20.37:g.44641958G>A		Somatic	925	WXS	Illumina HiSeq	Phase_I	B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Silent	SNP	ENST00000372330.3	37	CCDS13390.1																																																																																				0.687	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1		
SLC2A10	81031	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	45355544	45355544	+	Nonsense_Mutation	SNP	C	C	T	rs370547023		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:45355544C>T	ENST00000359271.2	+	3	1580	c.1330C>T	c.(1330-1332)Cga>Tga	p.R444*		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	444					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TGTGGAGATACGAGGAAGAGC	0.592																																						.											0			GRCh37	CM070263	SLC2A10	M		C	stop/ARG	0,4406		0,0,2203	154.0	139.0	144.0		1330	2.6	1.0	20		144	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	SLC2A10	NM_030777.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		444/542	45355544	1,13005	2203	4300	6503	SO:0001587	stop_gained	81031			AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.1330C>T	20.37:g.45355544C>T	ENSP00000352216:p.Arg444*	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4J6|Q3MIX5|Q9H4I6	Nonsense_Mutation	SNP	ENST00000359271.2	37	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	C	36	5.906790	0.97093	0.0	1.16E-4	ENSG00000197496	ENST00000359271	.	.	.	5.8	2.61	0.31194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5252	15.405	0.74871	0.5717:0.4283:0.0:0.0	.	.	.	.	X	444	.	ENSP00000352216:R444X	R	+	1	2	SLC2A10	44788951	0.989000	0.36119	1.000000	0.80357	0.179000	0.23085	1.977000	0.40589	0.768000	0.33290	0.467000	0.42956	CGA		0.592	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2		
SPATA2	9825	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	48524979	48524979	+	Missense_Mutation	SNP	G	G	A	rs77667957		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:48524979G>A	ENST00000422556.1	-	2	398	c.49C>T	c.(49-51)Cgg>Tgg	p.R17W	SPATA2_ENST00000289431.5_Missense_Mutation_p.R17W|SPATA2_ENST00000543716.1_Intron	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	17					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			ACGTACTTCCGAAATAAGTCA	0.552																																						.											0								G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	90.0	84.0	86.0		49,49	3.8	1.0	20	dbSNP_131	86	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	SPATA2	NM_001135773.1,NM_006038.3	101,101	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging	17/521,17/521	48524979	3,13003	2203	4300	6503	SO:0001583	missense	9825			AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.49C>T	20.37:g.48524979G>A	ENSP00000416799:p.Arg17Trp	Somatic		WXS	Illumina HiSeq	Phase_I	E1P626|O94857	Missense_Mutation	SNP	ENST00000422556.1	37	CCDS13422.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.223817	0.79576	0.0	3.49E-4	ENSG00000158480	ENST00000289431;ENST00000422556	T;T	0.57107	0.42;0.42	4.79	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.67392	0.2888	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69487	-0.5132	10	0.87932	D	0	-23.3774	10.756	0.46237	0.0:0.0:0.6354:0.3646	.	17	Q9UM82	SPAT2_HUMAN	W	17	ENSP00000289431:R17W;ENSP00000416799:R17W	ENSP00000289431:R17W	R	-	1	2	SPATA2	47958386	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.214000	0.65236	2.661000	0.90470	0.655000	0.94253	CGG		0.552	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038	
BCAS1	8537	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	20	52601913	52601913	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:52601913G>A	ENST00000395961.3	-	7	1219	c.1053C>T	c.(1051-1053)tcC>tcT	p.S351S	BCAS1_ENST00000371435.2_Silent_p.S351S|BCAS1_ENST00000434986.2_Silent_p.S109S|BCAS1_ENST00000371440.3_Silent_p.S396S	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	351						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GGGTTGTCACGGACTGTGTGT	0.517																																						.											0													261.0	222.0	235.0					20																	52601913		2203	4300	6503	SO:0001819	synonymous_variant	8537			AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.1053C>T	20.37:g.52601913G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A0AVG5|Q68CZ3	Silent	SNP	ENST00000395961.3	37	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	G	4.443	0.082021	0.08533	.	.	ENSG00000064787	ENST00000422805	.	.	.	4.44	-6.42	0.01932	.	.	.	.	.	T	0.16385	0.0394	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.29941	-0.9995	4	.	.	.	-2.4618	1.8346	0.03137	0.1966:0.1373:0.3962:0.2698	.	.	.	.	L	70	.	.	P	-	2	0	BCAS1	52035320	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.874000	0.00718	-0.508000	0.06540	-0.302000	0.09304	CCG		0.517	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657	
BCAS1	8537	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	52645320	52645320	+	Missense_Mutation	SNP	C	C	T	rs201371925		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:52645320C>T	ENST00000395961.3	-	4	500	c.334G>A	c.(334-336)Gca>Aca	p.A112T	BCAS1_ENST00000411563.1_Missense_Mutation_p.A15T|BCAS1_ENST00000371435.2_Missense_Mutation_p.A112T|BCAS1_ENST00000371440.3_Missense_Mutation_p.A112T	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	112						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GATGAATCTGCGGCTTGGTCT	0.532																																						.											0													71.0	68.0	69.0					20																	52645320		2203	4300	6503	SO:0001583	missense	8537			AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.334G>A	20.37:g.52645320C>T	ENSP00000379290:p.Ala112Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	C	1.524	-0.546098	0.04024	.	.	ENSG00000064787	ENST00000371440;ENST00000395961;ENST00000371435;ENST00000411563	T;T;T;T	0.04758	3.56;3.56;3.56;3.56	5.11	-3.93	0.04143	.	0.785958	0.11479	N	0.559912	T	0.00784	0.0026	N	0.00142	-2.005	0.09310	N	0.999999	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.38520	-0.9657	10	0.02654	T	1	-0.4969	4.5089	0.11901	0.5014:0.2285:0.0:0.2701	.	15;112;112;112;112;112	B4E2C4;B2RCQ5;O75363-2;G3XAF7;A0AVG7;O75363	.;.;.;.;.;BCAS1_HUMAN	T	112;112;112;15	ENSP00000360495:A112T;ENSP00000379290:A112T;ENSP00000360490:A112T;ENSP00000397442:A15T	ENSP00000360490:A112T	A	-	1	0	BCAS1	52078727	0.082000	0.21442	0.548000	0.28192	0.660000	0.38997	-0.061000	0.11693	-1.046000	0.03246	-0.414000	0.06135	GCA		0.532	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657	
FAM209B	388799	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	20	55111249	55111249	+	Nonsense_Mutation	SNP	C	C	T	rs200395408	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:55111249C>T	ENST00000371325.1	+	2	367	c.271C>T	c.(271-273)Cga>Tga	p.R91*		NM_001013646.2	NP_001013668.2	Q5JX69	F209B_HUMAN	family with sequence similarity 209, member B	91						integral component of membrane (GO:0016021)|nucleus (GO:0005634)											TCCTGGCCTTCGAGGCTTCCC	0.408													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21293	0.0		0.0	False		,,,				2504	0.0					.											0													89.0	91.0	90.0					20																	55111249		2203	4300	6503	SO:0001587	stop_gained	388799			AL109806	CCDS33494.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000213714	ENSG00000213714			16101	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 107"""	C20orf107			Standard	NM_001013646		Approved	dJ1153D9.4	uc002xxz.4	Q5JX69	OTTHUMG00000032800	ENST00000371325.1:c.271C>T	20.37:g.55111249C>T	ENSP00000360376:p.Arg91*	Somatic		WXS	Illumina HiSeq	Phase_I	Q3KRB5	Nonsense_Mutation	SNP	ENST00000371325.1	37	CCDS33494.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	19.90	3.913153	0.72983	.	.	ENSG00000213714	ENST00000371325	.	.	.	2.71	2.71	0.32032	.	0.451422	0.16428	U	0.214854	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8967	9.076	0.36522	0.0:1.0:0.0:0.0	.	.	.	.	X	91	.	ENSP00000360376:R91X	R	+	1	2	C20orf107	54544656	0.280000	0.24249	0.316000	0.25252	0.524000	0.34500	0.976000	0.29462	1.829000	0.53265	0.491000	0.48974	CGA		0.408	FAM209B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079816.1		
ZBP1	81030	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	20	56185305	56185305	+	Silent	SNP	G	G	A	rs186925447		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:56185305G>A	ENST00000371173.3	-	7	1170	c.993C>T	c.(991-993)gaC>gaT	p.D331D	ZBP1_ENST00000343535.4_Silent_p.D331D|ZBP1_ENST00000340462.4_Silent_p.D308D|ZBP1_ENST00000395822.3_Silent_p.D256D	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	331					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)	p.D331D(1)		large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CGATGGTGGCGTCCTCGAGAA	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		18253	0.001		0.0	False		,,,				2504	0.0					.											1	Substitution - coding silent(1)	large_intestine(1)						G	,,	1,4405	2.1+/-5.4	0,1,2202	209.0	213.0	211.0		990,768,993	-6.6	0.0	20		211	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ZBP1	NM_001160417.1,NM_001160418.1,NM_030776.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	330/429,256/355,331/430	56185305	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81030			AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.993C>T	20.37:g.56185305G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Silent	SNP	ENST00000371173.3	37	CCDS13461.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	2.819	-0.245245	0.05906	2.27E-4	0.0	ENSG00000124256	ENST00000453793	.	.	.	4.03	-6.57	0.01842	.	.	.	.	.	T	0.24967	0.0606	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27400	-1.0075	4	.	.	.	-18.5432	6.8038	0.23766	0.4777:0.2171:0.3052:0.0	.	.	.	.	M	6	.	.	T	-	2	0	ZBP1	55618711	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.448000	0.02394	-1.778000	0.01282	-1.564000	0.00881	ACG		0.597	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776	
ZNF831	128611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	20	57769704	57769704	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:57769704C>T	ENST00000371030.2	+	1	3630	c.3630C>T	c.(3628-3630)caC>caT	p.H1210H		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1210							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGGCGGTGCACTTTCCTGGTA	0.642																																						.											0													31.0	36.0	34.0					20																	57769704		2094	4220	6314	SO:0001819	synonymous_variant	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3630C>T	20.37:g.57769704C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	CCDS42894.1																																																																																				0.642	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	
HRH3	11255	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	60791451	60791451	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:60791451G>A	ENST00000340177.5	-	3	1233	c.949C>T	c.(949-951)Ccg>Tcg	p.P317S	HRH3_ENST00000317393.6_Missense_Mutation_p.P317S	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	317					brain development (GO:0007420)|drinking behavior (GO:0042756)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of serotonin secretion (GO:0014063)|neurotransmitter secretion (GO:0007269)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of norepinephrine secretion (GO:0014061)|response to organic cyclic compound (GO:0014070)	integral component of plasma membrane (GO:0005887)|myelin sheath (GO:0043209)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|histamine receptor activity (GO:0004969)			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Betahistine(DB06698)|Histamine Phosphate(DB00667)|Mirtazapine(DB00370)	AGTGAGCGCGGCCTCTCAGTG	0.706																																						.											0													7.0	7.0	7.0					20																	60791451		2146	4213	6359	SO:0001583	missense	11255			AF140538	CCDS13493.1	20q13.33	2013-09-19			ENSG00000101180	ENSG00000101180		"""GPCR / Class A : Histamine receptors"""	5184	protein-coding gene	gene with protein product		604525				10347254	Standard	NM_007232		Approved	GPCR97	uc002ycf.2	Q9Y5N1	OTTHUMG00000032899	ENST00000340177.5:c.949C>T	20.37:g.60791451G>A	ENSP00000342560:p.Pro317Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q4QRI7|Q9GZX2|Q9H4K8	Missense_Mutation	SNP	ENST00000340177.5	37	CCDS13493.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643694	0.29246	.	.	ENSG00000101180	ENST00000340177;ENST00000317393;ENST00000370797	T;T	0.69040	-0.3;-0.37	4.8	4.8	0.61643	GPCR, rhodopsin-like superfamily (1);	0.239450	0.36972	N	0.002304	T	0.55878	0.1948	M	0.64997	1.995	0.09310	N	1	B;B	0.24823	0.112;0.051	B;B	0.24541	0.032;0.054	T	0.44360	-0.9333	10	0.07482	T	0.82	-16.1255	7.4237	0.27085	0.0829:0.0:0.6663:0.2508	.	317;317	Q9Y5N1-2;Q9Y5N1	.;HRH3_HUMAN	S	317;317;287	ENSP00000342560:P317S;ENSP00000321482:P317S	ENSP00000321482:P317S	P	-	1	0	HRH3	60224846	0.961000	0.32948	0.987000	0.45799	0.965000	0.64279	2.510000	0.45468	2.185000	0.69588	0.407000	0.27541	CCG		0.706	HRH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079994.1	NM_007232	
MRGBP	55257	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	61429984	61429984	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:61429984G>A	ENST00000370487.3	+	3	387	c.316G>A	c.(316-318)Gtc>Atc	p.V106I	OGFR-AS1_ENST00000431361.1_RNA	NM_018270.4	NP_060740.1	Q9NV56	MRGBP_HUMAN	MRG/MORF4L binding protein	106					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	H4/H2A histone acetyltransferase complex (GO:0043189)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GAGGAACTTCGTCCTTCCAGA	0.483																																						.											0													142.0	141.0	142.0					20																	61429984		2203	4300	6503	SO:0001583	missense	55257			AK001776	CCDS13503.1	20q13.33	2012-10-29	2012-10-29	2012-10-29	ENSG00000101189	ENSG00000101189			15866	protein-coding gene	gene with protein product		611157	"""chromosome 20 open reading frame 20"""	C20orf20		12963728	Standard	NM_018270		Approved	FLJ10914, MRG15BP, Eaf7	uc002ydi.3	Q9NV56	OTTHUMG00000032940	ENST00000370487.3:c.316G>A	20.37:g.61429984G>A	ENSP00000359518:p.Val106Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A8C4L5	Missense_Mutation	SNP	ENST00000370487.3	37	CCDS13503.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089004	0.36855	.	.	ENSG00000101189	ENST00000370487	.	.	.	5.16	2.97	0.34412	.	0.301114	0.36893	N	0.002358	T	0.12263	0.0298	N	0.01482	-0.84	0.28329	N	0.921897	B	0.15473	0.013	B	0.12156	0.007	T	0.11665	-1.0578	9	0.33940	T	0.23	-21.2312	6.3757	0.21505	0.429:0.0:0.571:0.0	.	106	Q9NV56	MRGBP_HUMAN	I	106	.	ENSP00000359518:V106I	V	+	1	0	C20orf20	60900429	0.982000	0.34865	0.993000	0.49108	0.989000	0.77384	1.498000	0.35660	1.154000	0.42482	0.561000	0.74099	GTC		0.483	MRGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080080.1	NM_018270	
CHRNA4	1137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	20	61981545	61981545	+	Silent	SNP	C	C	T	rs200528988		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:61981545C>T	ENST00000370263.4	-	5	1439	c.1218G>A	c.(1216-1218)ccG>ccA	p.P406P	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	406					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CACAGAAGGACGGTGAGGGCG	0.672																																						.											0													15.0	14.0	15.0					20																	61981545		2191	4283	6474	SO:0001819	synonymous_variant	1137				CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1218G>A	20.37:g.61981545C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q4JGR7|Q4VAQ5|Q4VAQ6	Silent	SNP	ENST00000370263.4	37	CCDS13517.1																																																																																				0.672	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3		
KCNQ2	3785	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	20	62065203	62065203	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:62065203C>T	ENST00000359125.2	-	8	1251	c.1077G>A	c.(1075-1077)acG>acA	p.T359T	KCNQ2_ENST00000359689.1_Silent_p.T359T|KCNQ2_ENST00000354587.3_Silent_p.T359T|KCNQ2_ENST00000344425.5_Silent_p.T359T|KCNQ2_ENST00000344462.4_Silent_p.T359T|KCNQ2_ENST00000360480.3_Silent_p.T359T|KCNQ2_ENST00000482957.1_5'UTR|KCNQ2_ENST00000370224.1_Silent_p.T359T|KCNQ2_ENST00000357249.2_Silent_p.T359T	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	359					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	AGTACTGCCACGTGGAGTGCA	0.592																																						.											0													136.0	112.0	120.0					20																	62065203		2203	4300	6503	SO:0001819	synonymous_variant	3785			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1077G>A	20.37:g.62065203C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Silent	SNP	ENST00000359125.2	37	CCDS13520.1																																																																																				0.592	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109	
C20orf195	79025	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	20	62187191	62187191	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:62187191C>T	ENST00000370098.3	+	2	267	c.175C>T	c.(175-177)Cac>Tac	p.H59Y	C20orf195_ENST00000370097.1_Missense_Mutation_p.H59Y	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	59						extracellular vesicular exosome (GO:0070062)				large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CCTGAGTCCGCACCTGCTCAA	0.647																																						.											0													60.0	54.0	56.0					20																	62187191		2203	4300	6503	SO:0001583	missense	79025				CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531			28764	protein-coding gene	gene with protein product						12477932	Standard	NM_024059		Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.175C>T	20.37:g.62187191C>T	ENSP00000359116:p.His59Tyr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000370098.3	37	CCDS13526.1	.	.	.	.	.	.	.	.	.	.	C	9.739	1.164239	0.21538	.	.	ENSG00000125531	ENST00000370098;ENST00000370097	.	.	.	5.26	4.31	0.51392	.	0.121992	0.36303	N	0.002662	T	0.26846	0.0657	N	0.24115	0.695	0.24081	N	0.995942	P	0.45176	0.852	B	0.43783	0.431	T	0.09930	-1.0652	9	0.66056	D	0.02	-28.4762	8.4646	0.32949	0.1533:0.7689:0.0:0.0778	.	59	Q9BVV2	CT195_HUMAN	Y	59	.	ENSP00000359115:H59Y	H	+	1	0	C20orf195	61657635	0.306000	0.24490	0.489000	0.27452	0.313000	0.28021	2.399000	0.44495	1.203000	0.43233	0.655000	0.94253	CAC		0.647	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080155.1	NM_024059	
HELZ2	85441	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	62200925	62200925	+	Missense_Mutation	SNP	G	G	A	rs371600411	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:62200925G>A	ENST00000467148.1	-	4	733	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	HELZ2_ENST00000427522.2_5'Flank|HELZ2_ENST00000479540.1_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	222					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CGCTCACCCCGTGCGTAGAGC	0.667													G|||	3	0.000599042	0.0023	0.0	5008	,	,		16090	0.0		0.0	False		,,,				2504	0.0					.											0								G	TRP/ARG	1,4335		0,1,2167	13.0	14.0	14.0		664	-3.5	0.0	20		14	0,8544		0,0,4272	no	missense	PRIC285	NM_001037335.2	101	0,1,6439	AA,AG,GG		0.0,0.0231,0.0078	probably-damaging	222/2650	62200925	1,12879	2168	4272	6440	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.664C>T	20.37:g.62200925G>A	ENSP00000417401:p.Arg222Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	7.374	0.627323	0.14257	2.31E-4	0.0	ENSG00000130589	ENST00000467148	T	0.02472	4.28	4.5	-3.51	0.04696	.	2.574830	0.01368	N	0.012460	T	0.02688	0.0081	L	0.36672	1.1	0.09310	N	1	D	0.61080	0.989	B	0.40534	0.332	T	0.35051	-0.9804	10	0.72032	D	0.01	-1.2993	2.2691	0.04086	0.1313:0.3039:0.2558:0.309	.	222	Q9BYK8	PR285_HUMAN	W	222	ENSP00000417401:R222W	ENSP00000417401:R222W	R	-	1	2	RP4-697K14.7	61671369	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.170000	0.09897	-1.144000	0.02862	0.563000	0.77884	CGG		0.667	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335	
FAM110A	83541	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	826273	826273	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:826273C>T	ENST00000304189.2	+	3	1207	c.826C>T	c.(826-828)Cgc>Tgc	p.R276C	FAM110A_ENST00000541082.1_Missense_Mutation_p.R276C|FAM110A_ENST00000381939.1_Missense_Mutation_p.R276C|FAM110A_ENST00000381941.3_Missense_Mutation_p.R276C|FAM110A_ENST00000246100.3_Missense_Mutation_p.R276C			Q9BQ89	F110A_HUMAN	family with sequence similarity 110, member A	276						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|lung(2)	3						GCGCAATGCCCGCGTGATCAA	0.657																																						.											0													54.0	63.0	60.0					20																	826273		2203	4300	6503	SO:0001583	missense	83541			BC012800	CCDS13008.1	20p13	2007-06-21	2007-03-21	2007-03-21	ENSG00000125898	ENSG00000125898			16188	protein-coding gene	gene with protein product		611393	"""chromosome 20 open reading frame 55"""	C20orf55		17499476	Standard	NM_001042353		Approved	bA371L19.3	uc002wef.1	Q9BQ89	OTTHUMG00000031649	ENST00000304189.2:c.826C>T	20.37:g.826273C>T	ENSP00000354163:p.Arg276Cys	Somatic		WXS	Illumina HiSeq	Phase_I	D3DVW2|Q5R1M7	Missense_Mutation	SNP	ENST00000304189.2	37	CCDS13008.1	.	.	.	.	.	.	.	.	.	.	.	23.2	4.389789	0.82902	.	.	ENSG00000125898	ENST00000381941;ENST00000304189;ENST00000381939;ENST00000246100;ENST00000541082	T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6	4.38	4.38	0.52667	.	0.000000	0.64402	D	0.000006	D	0.84745	0.5540	M	0.83384	2.64	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.87576	0.2481	10	0.87932	D	0	-3.4911	15.6478	0.77068	0.0:1.0:0.0:0.0	.	276	Q9BQ89	F110A_HUMAN	C	276	ENSP00000371367:R276C;ENSP00000354163:R276C;ENSP00000371365:R276C;ENSP00000246100:R276C;ENSP00000445228:R276C	ENSP00000246100:R276C	R	+	1	0	FAM110A	774273	0.955000	0.32602	1.000000	0.80357	0.987000	0.75469	1.451000	0.35145	2.269000	0.75478	0.484000	0.47621	CGC		0.657	FAM110A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077489.1	NM_031424	
UCKL1	54963	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	20	62571654	62571654	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:62571654G>A	ENST00000354216.6	-	14	1458	c.1416C>T	c.(1414-1416)caC>caT	p.H472H	MIR647_ENST00000384823.1_RNA|UCKL1_ENST00000369908.5_Silent_p.H457H|UCKL1_ENST00000358711.3_3'UTR|UCKL1_ENST00000369892.3_Silent_p.H472H|MIR1914_ENST00000607800.1_RNA	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	472					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CAGGCACGTCGTGGTCCTACC	0.577																																						.											0													114.0	89.0	97.0					20																	62571654		2198	4292	6490	SO:0001819	synonymous_variant	54963			AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.1416C>T	20.37:g.62571654G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Silent	SNP	ENST00000354216.6	37	CCDS13547.1																																																																																				0.577	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859	
AFF3	3899	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	100210166	100210166	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:100210166G>A	ENST00000409236.2	-	13	2069	c.1957C>T	c.(1957-1959)Cgg>Tgg	p.R653W	AFF3_ENST00000356421.2_Missense_Mutation_p.R678W|AFF3_ENST00000317233.4_Missense_Mutation_p.R653W|AFF3_ENST00000409579.1_Missense_Mutation_p.R678W			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	653					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CTTAGCCCCCGCGTGCGGCGC	0.632																																						.											0													60.0	66.0	64.0					2																	100210166		2203	4299	6502	SO:0001583	missense	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1957C>T	2.37:g.100210166G>A	ENSP00000387207:p.Arg653Trp	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899400	0.52227	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	5.17	3.3	0.37823	.	0.086860	0.45867	D	0.000326	T	0.81384	0.4811	M	0.81497	2.545	0.34164	D	0.669057	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.989	D	0.87301	0.2305	10	0.72032	D	0.01	.	13.6734	0.62438	0.0:0.0:0.6001:0.3999	.	806;653;678	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	W	653;678;678;653;653;806;678	ENSP00000317421:R653W;ENSP00000348793:R678W;ENSP00000386834:R678W;ENSP00000387207:R653W	ENSP00000317421:R653W	R	-	1	2	AFF3	99576598	0.001000	0.12720	0.611000	0.29010	0.738000	0.42128	-0.157000	0.10085	0.523000	0.28482	0.561000	0.74099	CGG		0.632	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285	
TMEM177	80775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	120438454	120438454	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:120438454G>A	ENST00000424086.1	+	2	498	c.25G>A	c.(25-27)Gca>Aca	p.A9T	TMEM177_ENST00000409951.1_Missense_Mutation_p.A9T|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.A9T|TMEM177_ENST00000272521.6_Missense_Mutation_p.A9T	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	9						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					GTGGCGGACCGCAGCATTTGT	0.577																																						.											0													31.0	32.0	32.0					2																	120438454		2203	4300	6503	SO:0001583	missense	80775			BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.25G>A	2.37:g.120438454G>A	ENSP00000402661:p.Ala9Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q9BT20	Missense_Mutation	SNP	ENST00000424086.1	37	CCDS2128.1	.	.	.	.	.	.	.	.	.	.	G	3.212	-0.161456	0.06502	.	.	ENSG00000144120	ENST00000401466;ENST00000424086;ENST00000272521;ENST00000445518;ENST00000409951;ENST00000415646	T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26	4.05	-1.07	0.09968	.	0.587988	0.18617	N	0.135983	T	0.10380	0.0254	L	0.47716	1.5	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.10450	0.005;0.003	T	0.25257	-1.0137	10	0.26408	T	0.33	.	0.9877	0.01450	0.3926:0.1542:0.296:0.1572	.	9;9	B8ZZT5;Q53S58	.;TM177_HUMAN	T	9	ENSP00000385966:A9T;ENSP00000402661:A9T;ENSP00000272521:A9T;ENSP00000405898:A9T;ENSP00000386430:A9T	ENSP00000272521:A9T	A	+	1	0	TMEM177	120154924	0.001000	0.12720	0.000000	0.03702	0.267000	0.26476	-0.011000	0.12721	-0.221000	0.09973	0.549000	0.68633	GCA		0.577	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	NM_030577	
IGSF5	150084	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	21	41151173	41151173	+	Missense_Mutation	SNP	G	G	A	rs199672249		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr21:41151173G>A	ENST00000380588.4	+	5	978	c.875G>A	c.(874-876)cGt>cAt	p.R292H	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	292	Cys-rich.				single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				tgctgccgccgtcgttgttgt	0.463													-|||	1	0.000199681	0.0	0.0	5008	,	,		16702	0.0		0.001	False		,,,				2504	0.0					.											0								G	HIS/ARG	1,4405		0,1,2202	55.0	53.0	54.0		875	-2.3	0.0	21		54	2,8598		0,2,4298	no	missense	IGSF5	NM_001080444.1	29	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	292/408	41151173	3,13003	2203	4300	6503	SO:0001583	missense	150084				CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.875G>A	21.37:g.41151173G>A	ENSP00000369962:p.Arg292His	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000380588.4	37	CCDS33562.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	-	10.72	1.429696	0.25726	2.27E-4	2.33E-4	ENSG00000183067	ENST00000380588	T	0.06768	3.26	4.24	-2.27	0.06846	.	.	.	.	.	T	0.03390	0.0098	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.41538	-0.9503	9	0.72032	D	0.01	.	1.1088	0.01700	0.4273:0.1665:0.2534:0.1528	.	292	Q9NSI5	IGSF5_HUMAN	H	292	ENSP00000369962:R292H	ENSP00000369962:R292H	R	+	2	0	IGSF5	40073043	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.137000	0.15995	-0.476000	0.06842	-0.140000	0.14226	CGT		0.463	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1		
COBLL1	22837	broad.mit.edu;hgsc.bcm.edu	37	2	165578972	165578972	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:165578972delA	ENST00000392717.2	-	6	840	c.836delT	c.(835-837)ttcfs	p.F279fs	COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000342193.4_Frame_Shift_Del_p.F241fs|COBLL1_ENST00000409184.3_Frame_Shift_Del_p.F279fs|COBLL1_ENST00000375458.2_Frame_Shift_Del_p.F241fs|COBLL1_ENST00000194871.6_Frame_Shift_Del_p.F307fs			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	279						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AAAAAAACTGAAAAACCCTTT	0.284																																						.											0													63.0	69.0	67.0					2																	165578972		2202	4299	6501	SO:0001589	frameshift_variant	22837			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.836delT	2.37:g.165578972delA	ENSP00000376478:p.Phe279fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Frame_Shift_Del	DEL	ENST00000392717.2	37																																																																																					0.284	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900	
TTN	7273	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	2	179460285	179460285	+	Missense_Mutation	SNP	T	T	C	rs372963343		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:179460285T>C	ENST00000591111.1	-	245	53097	c.52873A>G	c.(52873-52875)Atg>Gtg	p.M17625V	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M16698V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.M19266V|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M10393V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M10326V|TTN_ENST00000460472.2_Missense_Mutation_p.M10201V|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17625	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATGGACCCATGCCAATACTA	0.373																																						.											0								T	VAL/MET,VAL/MET,VAL/MET,VAL/MET	0,3712		0,0,1856	41.0	39.0	39.0		31177,30976,50092,30601	4.9	1.0	2		39	1,8197		0,1,4098	no	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	21,21,21,21	0,1,5954	CC,CT,TT		0.0122,0.0,0.0084	benign,benign,benign,benign	10393/27119,10326/27052,16698/33424,10201/26927	179460285	1,11909	1856	4099	5955	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52873A>G	2.37:g.179460285T>C	ENSP00000465570:p.Met17625Val	Somatic		WXS	Illumina HiSeq	Phase_I	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	14.31	2.496259	0.44352	0.0	1.22E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	6.07	4.9	0.64082	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.23611	0.0571	N	0.01410	-0.885	0.33765	D	0.622356	B;B;B;B	0.09022	0.002;0.002;0.002;0.002	B;B;B;B	0.14578	0.006;0.006;0.011;0.011	T	0.22591	-1.0212	9	0.87932	D	0	.	13.5887	0.61946	0.0:0.0:0.1296:0.8704	.	10201;10326;10393;17625	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	16698;10201;10393;10326;10199	ENSP00000343764:M16698V;ENSP00000434586:M10201V;ENSP00000340554:M10393V;ENSP00000352154:M10326V	ENSP00000340554:M10393V	M	-	1	0	TTN	179168531	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.991000	0.88244	1.099000	0.41499	0.477000	0.44152	ATG		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
MYT1L	23040	hgsc.bcm.edu;mdanderson.org	37	2	1896005	1896005	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:1896005G>A	ENST00000399161.2	-	15	2834	c.2087C>T	c.(2086-2088)gCg>gTg	p.A696V	MYT1L_ENST00000428368.2_Missense_Mutation_p.A694V	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	696	Ser-rich.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		gctgctgggcgcgtagctgct	0.692																																						.											0													9.0	17.0	14.0					2																	1896005		1695	3114	4809	SO:0001583	missense	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2087C>T	2.37:g.1896005G>A	ENSP00000382114:p.Ala696Val	Somatic		WXS	Illumina HiSeq	Phase_I	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	G	17.50	3.403971	0.62288	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.36878	1.23;1.23	4.93	4.93	0.64822	Myelin transcription factor 1 (1);	0.769532	0.12417	N	0.470758	T	0.38585	0.1046	M	0.62723	1.935	0.58432	D	0.999998	B;B	0.29115	0.233;0.098	B;B	0.15484	0.013;0.008	T	0.23619	-1.0183	10	0.32370	T	0.25	-8.1458	18.1375	0.89624	0.0:0.0:1.0:0.0	.	696;694	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	V	696;642;694	ENSP00000382114:A696V;ENSP00000396103:A694V	ENSP00000295067:A642V	A	-	2	0	MYT1L	1875012	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.236000	0.78154	2.298000	0.77334	0.467000	0.42956	GCG		0.692	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	2	179578856	179578856	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:179578856C>T	ENST00000591111.1	-	90	25802	c.25578G>A	c.(25576-25578)acG>acA	p.T8526T	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.T7599T|TTN_ENST00000589042.1_Silent_p.T8843T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12691	Ig-like 68.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T7599T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGTGTCTCCCGTGGTAACTT	0.378																																						.											1	Substitution - coding silent(1)	central_nervous_system(1)											69.0	63.0	65.0					2																	179578856		1834	4090	5924	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25578G>A	2.37:g.179578856C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
UNC80	285175	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	210808138	210808138	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:210808138G>A	ENST00000439458.1	+	44	6832	c.6752G>A	c.(6751-6753)cGt>cAt	p.R2251H	UNC80_ENST00000272845.6_Missense_Mutation_p.R2246H	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	2251					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CCCCAGCTGCGTCAAGCCATC	0.443																																						.											0													85.0	70.0	75.0					2																	210808138		692	1591	2283	SO:0001583	missense	285175			AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.6752G>A	2.37:g.210808138G>A	ENSP00000391088:p.Arg2251His	Somatic		WXS	Illumina HiSeq	Phase_I	B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	ENST00000439458.1	37	CCDS46504.1	.	.	.	.	.	.	.	.	.	.	G	33	5.262258	0.95368	.	.	ENSG00000144406	ENST00000439458;ENST00000272845	T;T	0.77489	-1.1;-1.1	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.82504	0.5051	N	0.22421	0.69	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.82546	-0.0403	10	0.51188	T	0.08	-13.6553	20.6634	0.99662	0.0:0.0:1.0:0.0	.	2251	Q8N2C7	UNC80_HUMAN	H	2251;2246	ENSP00000391088:R2251H;ENSP00000272845:R2246H	ENSP00000272845:R2246H	R	+	2	0	UNC80	210516383	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.541000	0.98083	2.894000	0.99253	0.655000	0.94253	CGT		0.443	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587	
PRODH	5625	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	18912624	18912624	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:18912624C>T	ENST00000357068.6	-	4	872	c.607G>A	c.(607-609)Gcc>Acc	p.A203T	PRODH_ENST00000334029.2_Missense_Mutation_p.A95T|PRODH_ENST00000420436.1_Missense_Mutation_p.A95T	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	203					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GCCTCATTGGCGTAGAAGTAG	0.597																																						.											0													136.0	117.0	124.0					22																	18912624		2203	4300	6503	SO:0001583	missense	5625			AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"""proline dehydrogenase (proline oxidase )"""			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.607G>A	22.37:g.18912624C>T	ENSP00000349577:p.Ala203Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Missense_Mutation	SNP	ENST00000357068.6	37	CCDS13754.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	23.7|23.7	4.447846|4.447846	0.84101|0.84101	.|.	.|.	ENSG00000100033|ENSG00000100033	ENST00000357068;ENST00000438924;ENST00000450579|ENST00000457083	T;T|.	0.75938|.	-0.98;-0.98|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69593|0.69593	0.3128|0.3128	L|L	0.55990|0.55990	1.75|1.75	0.58432|0.58432	D|D	0.999999|0.999999	D;P;P|.	0.55385|.	0.971;0.95;0.87|.	B;B;B|.	0.40165|.	0.321;0.265;0.184|.	T|T	0.67436|0.67436	-0.5671|-0.5671	10|5	0.28530|.	T|.	0.3|.	-18.4529|-18.4529	16.2912|16.2912	0.82752|0.82752	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	119;203;95|.	O43272-1;O43272;E7EQL6|.	.;PROD_HUMAN;.|.	T|H	203;85;44|126	ENSP00000349577:A203T;ENSP00000396806:A44T|.	ENSP00000334726:A95T|.	A|R	-|-	1|2	0|0	PRODH|PRODH	17292624|17292624	0.997000|0.997000	0.39634|0.39634	0.995000|0.995000	0.50966|0.50966	0.847000|0.847000	0.48162|0.48162	4.493000|4.493000	0.60341|0.60341	2.528000|2.528000	0.85240|0.85240	0.450000|0.450000	0.29827|0.29827	GCC|CGC		0.597	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316637.2	NM_016335	
SEPT5	5413	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	19707904	19707904	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:19707904G>A	ENST00000455784.2	+	6	549	c.424G>A	c.(424-426)Ggc>Agc	p.G142S	GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000438754.2_Missense_Mutation_p.G151S|SEPT5_ENST00000406395.1_Missense_Mutation_p.G142S|SEPT5_ENST00000383045.3_Missense_Mutation_p.G151S	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	142	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TGATGAGAGCGGCCTCAACCG	0.597																																						.											0													158.0	142.0	147.0					22																	19707904		2203	4300	6503	SO:0001583	missense	5413			Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.424G>A	22.37:g.19707904G>A	ENSP00000391311:p.Gly142Ser	Somatic		WXS	Illumina HiSeq	Phase_I	O15251|Q96MY5	Missense_Mutation	SNP	ENST00000455784.2	37	CCDS13764.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.9|29.9	5.046567|5.046567	0.93740|0.93740	.|.	.|.	ENSG00000184702|ENSG00000184702	ENST00000455784;ENST00000406395;ENST00000446882;ENST00000412544;ENST00000431124;ENST00000383045;ENST00000438754;ENST00000395109|ENST00000413258	T;T;T;T;T;T;T|.	0.50548|.	0.74;0.74;0.74;0.74;0.74;0.74;0.74|.	3.88|3.88	3.88|3.88	0.44766|0.44766	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73628|0.73628	0.3611|0.3611	M|M	0.72624|0.72624	2.21|2.21	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.75340|0.75340	-0.3352|-0.3352	10|5	0.66056|.	D|.	0.02|.	.|.	16.403|16.403	0.83649|0.83649	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	142|.	Q99719|.	SEPT5_HUMAN|.	S|Q	142;142;113;95;180;151;151;95|38	ENSP00000391311:G142S;ENSP00000384535:G142S;ENSP00000408678:G95S;ENSP00000414488:G180S;ENSP00000372515:G151S;ENSP00000394541:G151S;ENSP00000378541:G95S|.	ENSP00000372515:G151S|.	G|R	+|+	1|2	0|0	SEPT5|SEPT5	18087904|18087904	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.765000|0.765000	0.43378|0.43378	7.612000|7.612000	0.82975|0.82975	2.154000|2.154000	0.67381|0.67381	0.462000|0.462000	0.41574|0.41574	GGC|CGG		0.597	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688	
C22orf29	79680	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	22	19839716	19839716	+	Silent	SNP	G	G	A	rs376068168		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:19839716G>A	ENST00000405640.1	-	2	737	c.69C>T	c.(67-69)aaC>aaT	p.N23N	GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000328554.4_Silent_p.N23N|GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000403325.1_Intron|C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000407472.1_Silent_p.N23N			Q7L3V2	BOP_HUMAN	chromosome 22 open reading frame 29	23					mitochondrial outer membrane permeabilization (GO:0097345)|regulation of mitochondrial membrane potential (GO:0051881)	mitochondrion (GO:0005739)				NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					ATGGATGTGCGTTGGCATAAT	0.642																																						.											0								G	,	0,4406		0,0,2203	81.0	76.0	78.0		69,	-7.4	0.0	22		78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron	GNB1L,C22orf29	NM_024627.5,NM_053004.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	23/365,	19839716	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79680			BX640998	CCDS13769.1	22q11.21	2006-07-05			ENSG00000215012	ENSG00000215012			26112	protein-coding gene	gene with protein product						12477932	Standard	NM_024627		Approved	FLJ21125	uc002zqh.3	Q7L3V2	OTTHUMG00000030314	ENST00000405640.1:c.69C>T	22.37:g.19839716G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K5E7|D3DX21|Q6MZM8|Q6N000|Q9H7A0	Silent	SNP	ENST00000405640.1	37	CCDS13769.1																																																																																				0.642	C22orf29-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317290.2	NM_024627	
ASIC4	55515	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	220379312	220379312	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:220379312C>A	ENST00000347842.3	+	1	261	c.247C>A	c.(247-249)Cct>Act	p.P83T	AC053503.11_ENST00000429882.1_RNA|ASIC4_ENST00000358078.4_Missense_Mutation_p.P83T	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	83					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										CCACCCTGTCCCTGTCCTCTT	0.687																																						.											0													12.0	13.0	13.0					2																	220379312		2190	4291	6481	SO:0001583	missense	55515			AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.247C>A	2.37:g.220379312C>A	ENSP00000326627:p.Pro83Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922747	0.52653	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.67171	-0.24;-0.25	4.73	3.85	0.44370	.	.	.	.	.	T	0.45498	0.1345	N	0.08118	0	0.27326	N	0.956917	B;B;B	0.31174	0.063;0.103;0.311	B;B;B	0.30646	0.026;0.058;0.118	T	0.39722	-0.9600	9	0.49607	T	0.09	-2.4131	9.1116	0.36732	0.0:0.8966:0.0:0.1034	.	83;83;83	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	T	83	ENSP00000326627:P83T;ENSP00000350786:P83T	ENSP00000326627:P83T	P	+	1	0	ACCN4	220087556	0.582000	0.26749	0.526000	0.27913	0.817000	0.46193	2.772000	0.47678	1.103000	0.41568	0.561000	0.74099	CCT		0.687	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674	
OBSL1	23363	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	2	220435086	220435086	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:220435086C>T	ENST00000404537.1	-	1	925	c.869G>A	c.(868-870)cGc>cAc	p.R290H	OBSL1_ENST00000373876.1_Missense_Mutation_p.R290H|INHA_ENST00000243786.2_5'Flank|OBSL1_ENST00000603926.1_Missense_Mutation_p.R290H|OBSL1_ENST00000373873.4_Missense_Mutation_p.R290H|OBSL1_ENST00000289656.3_Intron|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000265318.4_Missense_Mutation_p.R290H|INHA_ENST00000489456.1_Intron	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	290	Ig-like 3.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GAGGCGGCGGCGGTCCGGGAG	0.682																																						.											0													20.0	26.0	24.0					2																	220435086		2007	4140	6147	SO:0001583	missense	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.869G>A	2.37:g.220435086C>T	ENSP00000385636:p.Arg290His	Somatic		WXS	Illumina HiSeq	Phase_I	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	C	35	5.526696	0.96431	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873	T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71	4.39	4.39	0.52855	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81182	0.4769	L	0.54965	1.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82246	-0.0552	9	0.52906	T	0.07	.	17.4831	0.87679	0.0:1.0:0.0:0.0	.	290;290	O75147;O75147-2	OBSL1_HUMAN;.	H	290	ENSP00000265318:R290H;ENSP00000385636:R290H;ENSP00000362983:R290H;ENSP00000362980:R290H	ENSP00000265318:R290H	R	-	2	0	OBSL1	220143330	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.751000	0.68720	2.434000	0.82447	0.407000	0.27541	CGC		0.682	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1		
IGLL5	100423062	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	22	23230424	23230424	+	Missense_Mutation	SNP	G	G	A	rs534077784	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:23230424G>A	ENST00000526893.1	+	1	465	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	hsa-mir-5571_ENST00000577998.1_RNA|IGLL5_ENST00000532223.2_Missense_Mutation_p.R64Q|IGLL5_ENST00000531372.1_Missense_Mutation_p.R64Q	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	64						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						TCCAGCCTGCGGAGCCTGTGG	0.647													G|||	2	0.000399361	0.0015	0.0	5008	,	,		11770	0.0		0.0	False		,,,				2504	0.0					.											0																																										SO:0001583	missense	100423062			M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"""Immunoglobulin superfamily / C1-set domain containing"""	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.191G>A	22.37:g.23230424G>A	ENSP00000431254:p.Arg64Gln	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000526893.1	37	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	G	9.191	1.025926	0.19512	.	.	ENSG00000254709	ENST00000532223;ENST00000526893;ENST00000531372	T;T	0.00571	6.53;6.5	3.92	-2.68	0.06041	.	.	.	.	.	T	0.00384	0.0012	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40720	-0.9548	9	0.87932	D	0	.	5.98	0.19401	0.3958:0.1334:0.4708:0.0	.	64	B9A064	IGLL5_HUMAN	Q	64	ENSP00000436353:R64Q;ENSP00000431254:R64Q	ENSP00000431254:R64Q	R	+	2	0	IGLL5	21560424	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.573000	0.02134	-0.708000	0.05015	-0.829000	0.03081	CGG		0.647	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126	
GNAZ	2781	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	23438268	23438268	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:23438268G>A	ENST00000248996.4	+	2	1052	c.386G>A	c.(385-387)cGa>cAa	p.R129Q	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	129					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GGTGTCATGCGACGGCTCTGG	0.677																																						.											0													54.0	54.0	54.0					22																	23438268		2203	4299	6502	SO:0001583	missense	2781				CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.386G>A	22.37:g.23438268G>A	ENSP00000248996:p.Arg129Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B2R6C1|Q4QRJ6	Missense_Mutation	SNP	ENST00000248996.4	37	CCDS13804.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.785671	0.31593	.	.	ENSG00000128266	ENST00000248996;ENST00000456059	D	0.88586	-2.4	4.85	2.38	0.29361	G protein alpha subunit, helical insertion (2);	0.055374	0.64402	D	0.000001	T	0.77370	0.4120	N	0.21194	0.64	0.35898	D	0.830197	B	0.06786	0.001	B	0.01281	0.0	T	0.72465	-0.4285	10	0.42905	T	0.14	.	4.3483	0.11143	0.4511:0.0:0.5489:0.0	.	129	P19086	GNAZ_HUMAN	Q	129;77	ENSP00000248996:R129Q	ENSP00000248996:R129Q	R	+	2	0	GNAZ	21768268	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	6.248000	0.72418	1.197000	0.43143	0.655000	0.94253	CGA		0.677	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073	
SMARCB1	6598	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	22	24176351	24176351	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:24176351C>T	ENST00000263121.7	+	9	1338	c.1142C>T	c.(1141-1143)aCg>aTg	p.T381M	DERL3_ENST00000464023.1_5'Flank|SMARCB1_ENST00000344921.6_Missense_Mutation_p.T390M|SMARCB1_ENST00000407422.3_Missense_Mutation_p.T372M|SMARCB1_ENST00000407082.3_Missense_Mutation_p.T335M	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	381					ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CTTGCCAACACGGCCCCGGCC	0.652			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid																																.	yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""		M	3	Unknown(2)|Deletion - In frame(1)	central_nervous_system(3)											34.0	26.0	29.0					22																	24176351		2193	4297	6490	SO:0001583	missense	6598			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.1142C>T	22.37:g.24176351C>T	ENSP00000263121:p.Thr381Met	Somatic		WXS	Illumina HiSeq	Phase_I	O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Missense_Mutation	SNP	ENST00000263121.7	37	CCDS13817.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346690	0.61073	.	.	ENSG00000099956	ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	D;D;D;D	0.94417	-3.42;-3.41;-3.42;-3.33	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.95778	0.8626	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.983;0.988	D	0.96175	0.9126	10	0.62326	D	0.03	-17.4606	17.8693	0.88806	0.0:1.0:0.0:0.0	.	390;372;381	G5E975;Q17S11;Q12824	.;.;SNF5_HUMAN	M	390;381;372;335	ENSP00000340883:T390M;ENSP00000263121:T381M;ENSP00000383984:T372M;ENSP00000385226:T335M	ENSP00000263121:T381M	T	+	2	0	SMARCB1	22506351	1.000000	0.71417	0.998000	0.56505	0.132000	0.20833	7.508000	0.81686	2.544000	0.85801	0.543000	0.68304	ACG		0.652	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073	
ADORA2A	135	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	24837116	24837116	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:24837116C>T	ENST00000337539.7	+	3	1357	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A_ENST00000496497.1_3'UTR|ADORA2A-AS1_ENST00000326341.4_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	300			R -> H (in dbSNP:rs4990).		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	CCAGACCTTCCGCAAGATCAT	0.582																																						.											0													75.0	66.0	69.0					22																	24837116		2203	4300	6503	SO:0001583	missense	135			X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"""GPCR / Class A : Adenosine receptors"""	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.898C>T	22.37:g.24837116C>T	ENSP00000336630:p.Arg300Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B2R7E0	Missense_Mutation	SNP	ENST00000337539.7	37	CCDS13826.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250623	0.59212	.	.	ENSG00000128271	ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596	T;T	0.40476	1.03;1.03	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.41880	0.1178	L	0.61218	1.895	0.80722	D	1	D	0.63880	0.993	B	0.42916	0.402	T	0.39143	-0.9628	10	0.40728	T	0.16	-50.0074	12.9218	0.58237	0.162:0.8379:0.0:0.0	.	300	P29274	AA2AR_HUMAN	C	300	ENSP00000414802:R300C;ENSP00000336630:R300C	ENSP00000336630:R300C	R	+	1	0	ADORA2A	23167116	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.516000	0.60496	2.473000	0.83533	0.462000	0.41574	CGC		0.582	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675	
MYO18B	84700	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	26422449	26422449	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:26422449C>T	ENST00000407587.2	+	43	6681	c.6512C>T	c.(6511-6513)tCg>tTg	p.S2171L	MYO18B_ENST00000335473.7_Missense_Mutation_p.S2170L|MYO18B_ENST00000536101.1_Missense_Mutation_p.S2170L			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2170						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGGACCCAGTCGGCATTGGCA	0.507																																						.											0													112.0	122.0	119.0					22																	26422449		1922	4134	6056	SO:0001583	missense	84700			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6512C>T	22.37:g.26422449C>T	ENSP00000386096:p.Ser2171Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.35|11.35	1.612358|1.612358	0.28712|0.28712	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000543971|ENST00000536101;ENST00000335473;ENST00000407587	.|D;D;D	.|0.86627	.|-2.13;-2.13;-2.15	4.28|4.28	-0.72|-0.72	0.11195|0.11195	.|.	.|.	.|.	.|.	.|.	T|T	0.69548|0.69548	0.3123|0.3123	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.26935	.|0.164;0.102;0.043;0.002;0.072	.|B;B;B;B;B	.|0.14578	.|0.011;0.005;0.005;0.001;0.011	T|T	0.55685|0.55685	-0.8102|-0.8102	5|9	.|0.28530	.|T	.|0.3	.|.	7.9115|7.9115	0.29793|0.29793	0.0:0.5385:0.3586:0.1029|0.0:0.5385:0.3586:0.1029	.|.	.|1683;2172;2170;2171;2170	.|Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.|.;.;MY18B_HUMAN;.;.	W|L	120|2170;2170;2171	.|ENSP00000441229:S2170L;ENSP00000334563:S2170L;ENSP00000386096:S2171L	.|ENSP00000334563:S2170L	R|S	+|+	1|2	2|0	MYO18B|MYO18B	24752449|24752449	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.212000|-0.212000	0.09319|0.09319	0.019000|0.019000	0.15079|0.15079	0.591000|0.591000	0.81541|0.81541	CGG|TCG		0.507	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	
SEZ6L	23544	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	22	26688611	26688611	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:26688611G>A	ENST00000248933.6	+	2	429	c.334G>A	c.(334-336)Gcc>Acc	p.A112T	SEZ6L_ENST00000404234.3_Missense_Mutation_p.A112T|SEZ6L_ENST00000343706.4_Missense_Mutation_p.A112T|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000529632.2_Missense_Mutation_p.A112T|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.A112T			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	112					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCCCAAGCACGCCTTGCCCCC	0.647																																						.											0													43.0	36.0	39.0					22																	26688611		2203	4300	6503	SO:0001583	missense	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.334G>A	22.37:g.26688611G>A	ENSP00000248933:p.Ala112Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	1.111	-0.658295	0.03454	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	4.15	-7.7	0.01259	.	1.340970	0.05467	N	0.552354	T	0.10380	0.0254	N	0.08118	0	0.09310	N	0.999995	B;B;B;B;B;B	0.23891	0.001;0.001;0.009;0.093;0.001;0.001	B;B;B;B;B;B	0.12837	0.001;0.001;0.005;0.008;0.001;0.001	T	0.20009	-1.0288	10	0.13108	T	0.6	.	3.7933	0.08730	0.5686:0.1179:0.2071:0.1064	.	112;112;112;112;112;112	B7ZLJ8;B7ZLJ6;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	T	112	ENSP00000384772:A112T;ENSP00000437037:A112T;ENSP00000354185:A112T;ENSP00000248933:A112T;ENSP00000342661:A112T	ENSP00000248933:A112T	A	+	1	0	SEZ6L	25018611	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.512000	0.06313	-1.455000	0.01923	-0.300000	0.09419	GCC		0.647	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3		
PID1	55022	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	230127481	230127481	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:230127481G>A	ENST00000392054.3	-	2	380	c.41C>T	c.(40-42)tCg>tTg	p.S14L	PID1_ENST00000392055.3_Intron|PID1_ENST00000409462.1_Intron	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	0					cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		acatgtcctcgactcttctaa	0.468																																						.											0													211.0	207.0	208.0					2																	230127481		1327	2309	3636	SO:0001583	missense	55022			AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000392054.3:c.41C>T	2.37:g.230127481G>A	ENSP00000375907:p.Ser14Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	ENST00000392054.3	37	CCDS2471.1	.	.	.	.	.	.	.	.	.	.	G	8.942	0.966064	0.18659	.	.	ENSG00000153823	ENST00000392054	.	.	.	2.98	-2.74	0.05932	.	.	.	.	.	T	0.21509	0.0518	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21895	-1.0232	6	.	.	.	.	5.5214	0.16936	0.2302:0.493:0.2769:0.0	.	14	Q7Z2X4-2	.	L	14	.	.	S	-	2	0	PID1	229835725	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.752000	0.04797	-0.680000	0.05211	-0.371000	0.07208	TCG		0.468	PID1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331809.1	NM_017933	
MORC2	22880	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	31328607	31328607	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:31328607C>T	ENST00000397641.3	-	23	3080	c.2672G>A	c.(2671-2673)tGc>tAc	p.C891Y	MORC2_ENST00000215862.4_Missense_Mutation_p.C829Y|MORC2-AS1_ENST00000441558.1_RNA			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	891						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						AATGCGGAGGCATTCGGAAGT	0.592																																						.											0													116.0	89.0	98.0					22																	31328607		2203	4300	6503	SO:0001583	missense	22880			AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.2672G>A	22.37:g.31328607C>T	ENSP00000380763:p.Cys891Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.68|14.68	2.608736|2.608736	0.46527|0.46527	.|.	.|.	ENSG00000133422|ENSG00000133422	ENST00000397641;ENST00000215862|ENST00000445980	T;T|.	0.13307|.	2.61;2.6|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.336528|.	0.32884|.	N|.	0.005525|.	T|T	0.65471|0.65471	0.2694|0.2694	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	P|.	0.44195|.	0.828|.	B|.	0.40782|.	0.34|.	T|T	0.61969|0.61969	-0.6953|-0.6953	10|5	0.51188|.	T|.	0.08|.	.|.	13.5674|13.5674	0.61826|0.61826	0.0:0.9293:0.0:0.0707|0.0:0.9293:0.0:0.0707	.|.	891|.	Q9Y6X9|.	MORC2_HUMAN|.	Y|I	891;829|52	ENSP00000380763:C891Y;ENSP00000215862:C829Y|.	ENSP00000215862:C829Y|.	C|M	-|-	2|3	0|0	MORC2|MORC2	29658607|29658607	0.993000|0.993000	0.37304|0.37304	0.813000|0.813000	0.32504|0.32504	0.013000|0.013000	0.08279|0.08279	3.318000|3.318000	0.51975|0.51975	2.825000|2.825000	0.97269|0.97269	0.655000|0.655000	0.94253|0.94253	TGC|ATG		0.592	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941	
EIF4ENIF1	56478	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	31851930	31851930	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:31851930C>T	ENST00000397525.1	-	8	1230	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q	EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R336Q|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.R173Q|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.R15Q|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R336Q	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	336						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.R336Q(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCTACTGAACCGACTGGCAGA	0.433											OREG0003517	type=REGULATORY REGION|Gene=LOC486366|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										.											1	Substitution - Missense(1)	endometrium(1)											98.0	90.0	93.0					22																	31851930		2203	4300	6503	SO:0001583	missense	56478			AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.1007G>A	22.37:g.31851930C>T	ENSP00000380659:p.Arg336Gln	Somatic	828	WXS	Illumina HiSeq	Phase_I	B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	C	35	5.526108	0.96431	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180;ENST00000420671	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.78285	0.4259	M	0.67397	2.05	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	P;D;D;D	0.85130	0.874;0.986;0.963;0.997	T	0.76124	-0.3074	9	0.45353	T	0.12	-15.0571	17.8153	0.88630	0.0:1.0:0.0:0.0	.	173;336;173;336	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	Q	173;336;336;336;15;336	.	ENSP00000328103:R336Q	R	-	2	0	EIF4ENIF1	30181930	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.158000	0.77470	2.885000	0.99019	0.655000	0.94253	CGG		0.433	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843	
RBFOX2	23543	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	36334942	36334942	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:36334942C>T	ENST00000438146.2	-	2	189	c.190G>A	c.(190-192)Gag>Aag	p.E64K	RBFOX2_ENST00000359369.4_5'UTR	NM_001082578.1|NM_001082579.1	NP_001076047|NP_001076048.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	4					dendrite morphogenesis (GO:0048813)|intracellular estrogen receptor signaling pathway (GO:0030520)|mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of cell proliferation (GO:0042127)|regulation of definitive erythrocyte differentiation (GO:0010724)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(7)|lung(7)	18						GTCAGAGGCTCGTTCTATGAG	0.403																																						.											0													83.0	84.0	84.0					22																	36334942		1915	4130	6045	SO:0001583	missense	23543			AL009266	CCDS13921.1, CCDS43013.1, CCDS46699.1, CCDS46700.1, CCDS46701.1	22q12-q13	2013-02-12	2010-09-10	2010-09-10	ENSG00000100320	ENSG00000100320		"""RNA binding motif (RRM) containing"""	9906	protein-coding gene	gene with protein product	"""hexaribonucleotide binding protein 2"""	612149	"""RNA binding motif protein 9"""	RBM9			Standard	NM_014309		Approved	HNRBP2, FOX-2, HRNBP2	uc003aon.4	O43251	OTTHUMG00000150585	ENST00000438146.2:c.190G>A	22.37:g.36334942C>T	ENSP00000413035:p.Glu64Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A4F5G8|A8K5Z5|B0QYY8|B0QYY9|Q0PRL5|Q0VH35|Q5TF71|Q6IC09|Q8TD00|Q8WYB1|Q96DZ6|Q96NL7|Q9UGW4|Q9UH33	Missense_Mutation	SNP	ENST00000438146.2	37	CCDS43013.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195731	0.58126	.	.	ENSG00000100320	ENST00000338644;ENST00000438146;ENST00000408983	T;T	0.49139	0.79;1.42	5.22	5.22	0.72569	.	0.000000	0.43416	D	0.000577	T	0.47820	0.1466	N	0.08118	0	0.32323	N	0.562168	D;D	0.65815	0.995;0.995	D;D	0.68192	0.956;0.956	T	0.60342	-0.7282	10	0.87932	D	0	.	14.1472	0.65357	0.0:1.0:0.0:0.0	.	64;64	O43251-6;O43251-8	.;.	K	4;64;16	ENSP00000413035:E64K;ENSP00000386177:E16K	ENSP00000342831:E4K	E	-	1	0	RBFOX2	34664888	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.801000	0.55545	2.717000	0.92951	0.563000	0.77884	GAG		0.403	RBFOX2-005	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319299.3		
PLA2G6	8398	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	22	38522429	38522429	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:38522429C>T	ENST00000332509.3	-	10	1559	c.1376G>A	c.(1375-1377)cGg>cAg	p.R459Q	PLA2G6_ENST00000490473.1_5'UTR|PLA2G6_ENST00000335539.3_Missense_Mutation_p.R405Q|PLA2G6_ENST00000402064.1_Missense_Mutation_p.R405Q	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	459					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CTTCCGGGCCCGTGAGATGTG	0.612																																						.											0													115.0	99.0	105.0					22																	38522429		2203	4300	6503	SO:0001583	missense	8398			AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.1376G>A	22.37:g.38522429C>T	ENSP00000333142:p.Arg459Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158668	0.57368	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000396860	T;T;T	0.61980	0.08;0.06;0.06	4.7	4.7	0.59300	.	0.186924	0.45606	D	0.000343	T	0.60881	0.2303	N	0.14661	0.345	0.80722	D	1	D;D	0.71674	0.998;0.959	D;B	0.75484	0.986;0.287	T	0.55679	-0.8103	10	0.16896	T	0.51	-32.198	13.0024	0.58683	0.0:1.0:0.0:0.0	.	405;459	O60733-2;O60733	.;PA2G6_HUMAN	Q	459;320;405;405;459	ENSP00000333142:R459Q;ENSP00000335149:R405Q;ENSP00000386100:R405Q	ENSP00000333142:R459Q	R	-	2	0	PLA2G6	36852375	0.996000	0.38824	0.991000	0.47740	0.242000	0.25591	3.576000	0.53878	2.428000	0.82296	0.655000	0.94253	CGG		0.612	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426	
PLA2G6	8398	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	22	38536030	38536030	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:38536030G>A	ENST00000332509.3	-	5	939	c.756C>T	c.(754-756)aaC>aaT	p.N252N	PLA2G6_ENST00000335539.3_Silent_p.N252N|PLA2G6_ENST00000402064.1_Silent_p.N252N	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	252					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	TGGGGTAGCCGTTGGGGCCCA	0.637																																						.											0													44.0	44.0	44.0					22																	38536030		2203	4300	6503	SO:0001819	synonymous_variant	8398			AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.756C>T	22.37:g.38536030G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Silent	SNP	ENST00000332509.3	37	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	G	2.650	-0.282260	0.05642	.	.	ENSG00000184381	ENST00000427453;ENST00000452542	.	.	.	5.69	-5.62	0.02481	.	.	.	.	.	T	0.38799	0.1054	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36817	-0.9732	4	.	.	.	-0.0272	3.4062	0.07341	0.3981:0.3313:0.1814:0.0892	.	.	.	.	M	4;83	.	.	T	-	2	0	PLA2G6	36865976	0.000000	0.05858	0.001000	0.08648	0.418000	0.31294	-0.887000	0.04152	-1.319000	0.02286	-0.224000	0.12420	ACG		0.637	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426	
KDELR3	11015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	38875685	38875685	+	Missense_Mutation	SNP	C	C	T	rs569201267		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:38875685C>T	ENST00000216014.4	+	3	452	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	KDELR3_ENST00000409006.3_Missense_Mutation_p.R94C|KDELR3_ENST00000471268.1_3'UTR	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	94					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					TGACACATTCCGCCTGGAGTT	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		21964	0.001		0.0	False		,,,				2504	0.0				Ovarian(11;103 529 24120 28493 32980)	.											0													288.0	291.0	290.0					22																	38875685		2203	4300	6503	SO:0001583	missense	11015			AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520	ENST00000216014.4:c.280C>T	22.37:g.38875685C>T	ENSP00000216014:p.Arg94Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Missense_Mutation	SNP	ENST00000216014.4	37	CCDS13972.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140095	0.77775	.	.	ENSG00000100196	ENST00000216014;ENST00000409006	T;T	0.29655	1.56;1.56	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.52008	0.1708	M	0.86420	2.815	0.80722	D	1	P;D	0.53462	0.937;0.96	P;P	0.50791	0.633;0.65	T	0.64136	-0.6478	10	0.62326	D	0.03	.	17.7055	0.88308	0.0:1.0:0.0:0.0	.	94;94	O43731;O43731-2	ERD23_HUMAN;.	C	94	ENSP00000216014:R94C;ENSP00000386918:R94C	ENSP00000216014:R94C	R	+	1	0	KDELR3	37205631	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.574000	0.53863	2.401000	0.81631	0.655000	0.94253	CGC		0.443	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1		
ILKAP	80895	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	239079272	239079272	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:239079272G>A	ENST00000254654.3	-	12	1259	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	362	PP2C-like.				protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		GCTTCGTAGCGGGCGTCGGCT	0.607																																						.											0													43.0	43.0	43.0					2																	239079272		2203	4300	6503	SO:0001583	missense	80895			AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	15566	protein-coding gene	gene with protein product			"""integrin-linked kinase-associated serine/threonine phosphatase 2C"""				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.1084C>T	2.37:g.239079272G>A	ENSP00000254654:p.Arg362Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B3KM39	Missense_Mutation	SNP	ENST00000254654.3	37	CCDS2526.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464041	0.63513	.	.	ENSG00000132323	ENST00000254654	T	0.17691	2.26	5.69	4.74	0.60224	Protein phosphatase 2C-like (5);	0.112628	0.64402	D	0.000012	T	0.35422	0.0931	L	0.58101	1.795	0.54753	D	0.999988	D	0.76494	0.999	D	0.65443	0.935	T	0.01185	-1.1425	10	0.38643	T	0.18	-0.4038	15.2411	0.73471	0.0:0.0:0.8185:0.1815	.	362	Q9H0C8	ILKAP_HUMAN	C	362	ENSP00000254654:R362C	ENSP00000254654:R362C	R	-	1	0	ILKAP	238744011	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	3.097000	0.50251	2.688000	0.91661	0.563000	0.77884	CGC		0.607	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768	
TNRC6B	23112	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	40717184	40717184	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:40717184C>T	ENST00000454349.2	+	22	5276	c.5065C>T	c.(5065-5067)Cga>Tga	p.R1689*	TNRC6B_ENST00000335727.9_Nonsense_Mutation_p.R1579*|TNRC6B_ENST00000301923.9_Nonsense_Mutation_p.R885*|TNRC6B_ENST00000402203.1_Nonsense_Mutation_p.R885*	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1689	RRM.|Silencing domain; interaction with CNOT1 and PAN3.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						TGCCCTGATCCGATACAGCAC	0.522																																						.											0													66.0	65.0	65.0					22																	40717184		2080	4227	6307	SO:0001587	stop_gained	23112			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.5065C>T	22.37:g.40717184C>T	ENSP00000401946:p.Arg1689*	Somatic		WXS	Illumina HiSeq	Phase_I	B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Nonsense_Mutation	SNP	ENST00000454349.2	37	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	C	46	12.313979	0.99656	.	.	ENSG00000100354	ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727	.	.	.	5.52	5.52	0.82312	.	0.063647	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1621	19.8022	0.96513	0.0:1.0:0.0:0.0	.	.	.	.	X	885;885;1689;1579;1579	.	ENSP00000306759:R885X	R	+	1	2	TNRC6B	39047130	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.839000	0.62810	2.764000	0.94973	0.650000	0.86243	CGA		0.522	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding			
CENPM	79019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	42341239	42341239	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:42341239G>A	ENST00000215980.5	-	4	387	c.300C>T	c.(298-300)ctC>ctT	p.L100L	CENPM_ENST00000402338.1_Silent_p.L66L|CENPM_ENST00000402420.1_Missense_Mutation_p.R95C|CENPM_ENST00000407253.3_Silent_p.L100L|CENPM_ENST00000404067.1_Silent_p.L66L	NM_024053.3	NP_076958.1	Q9NSP4	CENPM_HUMAN	centromere protein M	100					mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|prostate(1)	3						CACCTGTGGCGAGGAAACACA	0.602																																						.											0													105.0	81.0	89.0					22																	42341239		2203	4300	6503	SO:0001819	synonymous_variant	79019			BC000705	CCDS14025.1, CCDS46719.1, CCDS46720.1	22q13.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000100162	ENSG00000100162			18352	protein-coding gene	gene with protein product		610152	"""chromosome 22 open reading frame 18"""	C22orf18		16622420, 16622419	Standard	NM_001110215		Approved	Pane1, CENP-M, MGC861	uc003bbn.3	Q9NSP4	OTTHUMG00000151277	ENST00000215980.5:c.300C>T	22.37:g.42341239G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A7LM22|B1AHQ9|Q6I9W3	Silent	SNP	ENST00000215980.5	37	CCDS14025.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864539	0.32977	.	.	ENSG00000100162	ENST00000402420	.	.	.	5.71	-11.4	0.00090	.	.	.	.	.	T	0.27832	0.0685	.	.	.	0.20489	N	0.999892	.	.	.	.	.	.	T	0.38908	-0.9639	5	0.46703	T	0.11	-11.2713	5.7759	0.18279	0.3699:0.39:0.1722:0.0679	.	.	.	.	C	95	.	ENSP00000384132:R95C	R	-	1	0	CENPM	40671185	0.000000	0.05858	0.009000	0.14445	0.516000	0.34256	-2.795000	0.00764	-2.780000	0.00361	-0.797000	0.03246	CGC		0.602	CENPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322058.1	NM_024053	
SMDT1	91689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	42475891	42475891	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:42475891G>T	ENST00000331479.3	+	1	193	c.119G>T	c.(118-120)cGg>cTg	p.R40L		NM_033318.4	NP_201575.3	Q9H4I9	EMRE_HUMAN	single-pass membrane protein with aspartate-rich tail 1	40					calcium ion transmembrane import into mitochondrion (GO:0036444)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	integral component of mitochondrial inner membrane (GO:0031305)|uniplex complex (GO:1990246)											GGCTCAGGCCGGAGCCTGGTA	0.652																																						.											0													67.0	70.0	69.0					22																	42475891		2203	4300	6503	SO:0001583	missense	91689			BC024237	CCDS14031.1	22q13.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000183172	ENSG00000183172			25055	protein-coding gene	gene with protein product		615588	"""chromosome 22 open reading frame 32"""	C22orf32		12477932	Standard	NM_033318		Approved	dJ186O1.1, DDDD	uc003bca.3	Q9H4I9	OTTHUMG00000151286	ENST00000331479.3:c.119G>T	22.37:g.42475891G>T	ENSP00000327467:p.Arg40Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B2R5D1|Q8TAB9	Missense_Mutation	SNP	ENST00000331479.3	37	CCDS14031.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242444	0.58995	.	.	ENSG00000183172	ENST00000331479	T	0.39229	1.09	6.08	-9.13	0.00704	.	1.290520	0.04919	N	0.454658	T	0.14141	0.0342	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.14783	-1.0460	10	0.09338	T	0.73	0.8194	2.0571	0.03583	0.226:0.2377:0.3707:0.1656	.	40	Q9H4I9	CV032_HUMAN	L	40	ENSP00000327467:R40L	ENSP00000327467:R40L	R	+	2	0	C22orf32	40805837	0.004000	0.15560	0.003000	0.11579	0.031000	0.12232	-0.474000	0.06607	-1.272000	0.02427	-1.239000	0.01543	CGG		0.652	SMDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322086.1	NM_033318	
SMDT1	91689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	42475902	42475902	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:42475902C>A	ENST00000331479.3	+	1	204	c.130C>A	c.(130-132)Ccg>Acg	p.P44T		NM_033318.4	NP_201575.3	Q9H4I9	EMRE_HUMAN	single-pass membrane protein with aspartate-rich tail 1	44					calcium ion transmembrane import into mitochondrion (GO:0036444)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	integral component of mitochondrial inner membrane (GO:0031305)|uniplex complex (GO:1990246)											GAGCCTGGTACCGTCGAGGTC	0.647																																						.											0													70.0	72.0	71.0					22																	42475902		2203	4300	6503	SO:0001583	missense	91689			BC024237	CCDS14031.1	22q13.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000183172	ENSG00000183172			25055	protein-coding gene	gene with protein product		615588	"""chromosome 22 open reading frame 32"""	C22orf32		12477932	Standard	NM_033318		Approved	dJ186O1.1, DDDD	uc003bca.3	Q9H4I9	OTTHUMG00000151286	ENST00000331479.3:c.130C>A	22.37:g.42475902C>A	ENSP00000327467:p.Pro44Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B2R5D1|Q8TAB9	Missense_Mutation	SNP	ENST00000331479.3	37	CCDS14031.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110148	0.94292	.	.	ENSG00000183172	ENST00000331479	T	0.46063	0.88	6.08	5.07	0.68467	.	0.053286	0.85682	D	0.000000	T	0.59865	0.2225	M	0.66939	2.045	0.58432	D	0.99999	D	0.62365	0.991	P	0.61201	0.885	T	0.63655	-0.6588	10	0.59425	D	0.04	-7.7469	15.0475	0.71838	0.0:0.9316:0.0:0.0684	.	44	Q9H4I9	CV032_HUMAN	T	44	ENSP00000327467:P44T	ENSP00000327467:P44T	P	+	1	0	C22orf32	40805848	0.997000	0.39634	1.000000	0.80357	0.733000	0.41908	2.943000	0.49026	1.591000	0.50007	0.591000	0.81541	CCG		0.647	SMDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322086.1	NM_033318	
TCF20	6942	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	22	42607545	42607545	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:42607545C>T	ENST00000359486.3	-	1	3903	c.3767G>A	c.(3766-3768)cGt>cAt	p.R1256H	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.R1256H	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1256					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						AGAACGAACACGCCTCCTCAT	0.453																																						.											0													146.0	134.0	138.0					22																	42607545		2203	4300	6503	SO:0001583	missense	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.3767G>A	22.37:g.42607545C>T	ENSP00000352463:p.Arg1256His	Somatic		WXS	Illumina HiSeq	Phase_I	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985812	0.74589	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.73575	-0.76;-0.75	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000002	D	0.84092	0.5396	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	D	0.84556	0.0647	10	0.87932	D	0	-15.6878	19.6556	0.95837	0.0:1.0:0.0:0.0	.	1256;1256	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	H	1256	ENSP00000352463:R1256H;ENSP00000335561:R1256H	ENSP00000335561:R1256H	R	-	2	0	TCF20	40937489	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.065000	0.76727	2.882000	0.98803	0.655000	0.94253	CGT		0.453	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492	
ARFGAP3	26286	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	43236982	43236982	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:43236982G>A	ENST00000263245.5	-	3	448	c.229C>T	c.(229-231)Cga>Tga	p.R77*	ARFGAP3_ENST00000437119.2_Nonsense_Mutation_p.R77*|ARFGAP3_ENST00000429508.2_Nonsense_Mutation_p.R77*	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	77	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGCATGCATCGCAACTGAAAC	0.353																																					GBM(58;544 1030 21460 27159 48838)	.											0													92.0	80.0	84.0					22																	43236982		2203	4300	6503	SO:0001587	stop_gained	26286			AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"""ADP-ribosylation factor GTPase activating proteins"""	661	protein-coding gene	gene with protein product		612439	"""ADP-ribosylation factor GTPase activating protein 1"""	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.229C>T	22.37:g.43236982G>A	ENSP00000263245:p.Arg77*	Somatic		WXS	Illumina HiSeq	Phase_I	E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Nonsense_Mutation	SNP	ENST00000263245.5	37	CCDS14042.1	.	.	.	.	.	.	.	.	.	.	g	26.1	4.700696	0.88924	.	.	ENSG00000242247	ENST00000263245;ENST00000429508;ENST00000437119;ENST00000454099;ENST00000435208	.	.	.	5.22	2.97	0.34412	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2764	0.49170	0.0:0.0:0.3933:0.6066	.	.	.	.	X	77;77;77;77;55	.	ENSP00000263245:R77X	R	-	1	2	ARFGAP3	41566926	1.000000	0.71417	0.757000	0.31301	0.901000	0.52897	3.349000	0.52217	1.149000	0.42402	0.580000	0.79431	CGA		0.353	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570	
TSPO	706	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	22	43558971	43558971	+	Missense_Mutation	SNP	C	C	T	rs41371752	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:43558971C>T	ENST00000396265.3	+	3	378	c.203C>T	c.(202-204)gCg>gTg	p.A68V	TSPO_ENST00000329563.4_Missense_Mutation_p.R162C|TSPO_ENST00000583777.1_Missense_Mutation_p.R58C|TSPO_ENST00000337554.3_Missense_Mutation_p.R162C			B1AH88	TSPOB_HUMAN	translocator protein (18kDa)	68					adrenal gland development (GO:0030325)|aging (GO:0007568)|behavioral response to pain (GO:0048266)|cellular hypotonic response (GO:0071476)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to zinc ion (GO:0071294)|chloride transport (GO:0006821)|contact inhibition (GO:0060242)|glial cell migration (GO:0008347)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of necrotic cell death (GO:0010940)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of steroid biosynthetic process (GO:0050810)|response to drug (GO:0042493)|response to manganese ion (GO:0010042)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to vitamin B1 (GO:0010266)|steroid biosynthetic process (GO:0006694)	mitochondrial outer membrane (GO:0005741)	androgen binding (GO:0005497)|benzodiazepine receptor activity (GO:0008503)			endometrium(1)|prostate(1)	2		Ovarian(80;0.0694)				CCATGGCTGGCGTGGGGGACG	0.677																																						.											0													27.0	21.0	23.0					22																	43558971		2189	4284	6473	SO:0001583	missense	706			AF075589	CCDS33661.1	22q13.3	2006-07-12	2006-07-12	2006-07-12	ENSG00000100300	ENSG00000100300			1158	protein-coding gene	gene with protein product	"""peripheral-type benzodiazepine receptor/recognition site"""	109610	"""benzodiazapine receptor (peripheral)"""	BZRP		1326278, 1847678, 16822554	Standard	NM_000714		Approved	PBR, MBR, PKBS, mDRC, DBI, IBP, pk18	uc003bdo.4	B1AH88	OTTHUMG00000150573	ENST00000396265.3:c.203C>T	22.37:g.43558971C>T	ENSP00000379563:p.Ala68Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q13849|Q6IAZ7	Missense_Mutation	SNP	ENST00000396265.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.92|14.92	2.678935|2.678935	0.47886|0.47886	.|.	.|.	ENSG00000100300|ENSG00000100300	ENST00000396265|ENST00000337554;ENST00000329563	T|T;T	0.54479|0.24538	0.57|1.85;1.85	4.38|4.38	3.35|3.35	0.38373|0.38373	.|.	.|0.339156	.|0.29192	.|N	.|0.012880	T|T	0.27629|0.27629	0.0679|0.0679	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	D|D	0.71674|0.65815	0.998|0.995	P|P	0.59948|0.46339	0.866|0.513	T|T	0.11518|0.11518	-1.0584|-1.0584	9|10	0.87932|0.59425	D|D	0|0.04	-12.9691|-12.9691	9.6469|9.6469	0.39872|0.39872	0.4008:0.5992:0.0:0.0|0.4008:0.5992:0.0:0.0	.|.	68|162	B1AH88|P30536	TSPOB_HUMAN|TSPOA_HUMAN	V|C	68|162	ENSP00000379563:A68V|ENSP00000338004:R162C;ENSP00000328973:R162C	ENSP00000379563:A68V|ENSP00000328973:R162C	A|R	+|+	2|1	0|0	TSPO|TSPO	41888915|41888915	0.327000|0.327000	0.24678|0.24678	0.029000|0.029000	0.17559|0.17559	0.070000|0.070000	0.16714|0.16714	1.141000|1.141000	0.31528|0.31528	1.156000|1.156000	0.42514|0.42514	0.655000|0.655000	0.94253|0.94253	GCG|CGT		0.677	TSPO-201	KNOWN	basic	protein_coding	protein_coding		NM_007311	
CELSR1	9620	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	22	46806300	46806300	+	Missense_Mutation	SNP	C	C	T	rs368495315		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:46806300C>T	ENST00000262738.3	-	7	4927	c.4928G>A	c.(4927-4929)cGg>cAg	p.R1643Q		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1643	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGTACCTTCCCGGGTGCCATT	0.627																																						.											0								C	GLN/ARG	4,4402	6.2+/-15.9	0,4,2199	92.0	82.0	85.0		4928	-2.2	0.8	22		85	0,8600		0,0,4300	no	missense	CELSR1	NM_014246.1	43	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	possibly-damaging	1643/3015	46806300	4,13002	2203	4300	6503	SO:0001583	missense	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4928G>A	22.37:g.46806300C>T	ENSP00000262738:p.Arg1643Gln	Somatic		WXS	Illumina HiSeq	Phase_I	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	2.193	-0.384861	0.04966	9.08E-4	0.0	ENSG00000075275	ENST00000262738	D	0.87334	-2.24	4.41	-2.16	0.07080	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.953479	0.08591	N	0.923106	T	0.66056	0.2751	N	0.11201	0.11	0.09310	N	0.999999	P	0.34587	0.458	B	0.28849	0.095	T	0.58059	-0.7703	10	0.23302	T	0.38	.	1.3803	0.02229	0.2552:0.428:0.1032:0.2136	.	1643	Q9NYQ6	CELR1_HUMAN	Q	1643	ENSP00000262738:R1643Q	ENSP00000262738:R1643Q	R	-	2	0	CELSR1	45184964	0.000000	0.05858	0.843000	0.33291	0.036000	0.12997	-0.232000	0.09055	-0.130000	0.11599	-0.710000	0.03640	CGG		0.627	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246	
TBC1D22A	25771	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	47189694	47189694	+	Missense_Mutation	SNP	G	G	A	rs535972526		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:47189694G>A	ENST00000337137.4	+	3	582	c.416G>A	c.(415-417)cGg>cAg	p.R139Q	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.R92Q|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.R92Q|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.R139Q|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.R120Q	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	139							protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGCGACCTCCGGCTGGTGAAG	0.667																																						.											0													10.0	12.0	11.0					22																	47189694		2124	4155	6279	SO:0001583	missense	25771			AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.416G>A	22.37:g.47189694G>A	ENSP00000336724:p.Arg139Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447214	0.63178	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T;T	0.44881	1.87;0.91;1.84;1.82;1.92	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.40398	0.1115	M	0.77820	2.39	0.40491	D	0.980544	B;P;D;B	0.54047	0.17;0.765;0.964;0.17	B;B;B;B	0.39068	0.018;0.081;0.289;0.018	T	0.46596	-0.9180	10	0.12430	T	0.62	6.9507	14.2057	0.65732	0.0:0.0:1.0:0.0	.	139;120;139;139	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	Q	139;92;139;120;92	ENSP00000336724:R139Q;ENSP00000370383:R92Q;ENSP00000384036:R139Q;ENSP00000347932:R120Q;ENSP00000385634:R92Q	ENSP00000336724:R139Q	R	+	2	0	TBC1D22A	45568358	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	6.219000	0.72231	2.367000	0.80283	0.511000	0.50034	CGG		0.667	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346	
PLXNB2	23654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	22	50720400	50720400	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:50720400G>A	ENST00000449103.1	-	20	3368	c.3228C>T	c.(3226-3228)gaC>gaT	p.D1076D	PLXNB2_ENST00000359337.4_Silent_p.D1076D|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1076	IPT/TIG 3.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CACGGTGCCCGTCCATCTCGA	0.597																																						.											0													54.0	60.0	58.0					22																	50720400		2083	4193	6276	SO:0001819	synonymous_variant	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3228C>T	22.37:g.50720400G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	8.224	0.803093	0.16397	.	.	ENSG00000196576	ENST00000427829	.	.	.	4.63	-2.52	0.06346	.	.	.	.	.	T	0.55657	0.1934	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54682	-0.8257	4	.	.	.	.	10.9952	0.47571	0.6569:0.0:0.3431:0.0	.	.	.	.	M	94	.	.	T	-	2	0	PLXNB2	49062527	1.000000	0.71417	0.997000	0.53966	0.684000	0.39900	0.683000	0.25349	-0.211000	0.10124	0.313000	0.20887	ACG		0.597	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401	
PLXNB2	23654	hgsc.bcm.edu	37	22	50726135	50726135	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:50726135G>A	ENST00000449103.1	-	7	1709	c.1569C>T	c.(1567-1569)agC>agT	p.S523S	PLXNB2_ENST00000359337.4_Silent_p.S523S|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	523					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTGGCTGGGCGCTGGTGACGG	0.746																																						.											0													3.0	4.0	4.0					22																	50726135		1668	3672	5340	SO:0001819	synonymous_variant	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.1569C>T	22.37:g.50726135G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	CCDS43035.1																																																																																				0.746	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401	
DTNB	1838	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	2	25799755	25799755	+	Silent	SNP	G	G	A	rs373794202		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:25799755G>A	ENST00000406818.3	-	8	1077	c.828C>T	c.(826-828)gcC>gcT	p.A276A	DTNB_ENST00000404103.3_Silent_p.A276A|DTNB_ENST00000407186.1_Silent_p.A276A|DTNB_ENST00000496972.2_Silent_p.A219A|DTNB_ENST00000407661.3_Silent_p.A276A|DTNB_ENST00000545439.1_Silent_p.A72A|DTNB_ENST00000407038.3_Silent_p.A276A|DTNB_ENST00000405222.1_Silent_p.A276A|DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000288642.8_Silent_p.A276A	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	276						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGGCCGCCGGCATGGCCAC	0.527																																						.											0								G	,,,,	0,4258		0,0,2129	46.0	51.0	49.0		828,828,828,828,828	4.9	1.0	2		49	2,8522		0,2,4260	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DTNB	NM_021907.3,NM_033147.2,NM_033148.2,NM_183360.1,NM_183361.1	,,,,	0,2,6389	AA,AG,GG		0.0235,0.0,0.0156	,,,,	276/628,276/598,276/568,276/610,276/561	25799755	2,12780	2129	4262	6391	SO:0001819	synonymous_variant	1838			AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.828C>T	2.37:g.25799755G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Silent	SNP	ENST00000406818.3	37	CCDS46237.1																																																																																				0.527	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147	
C2orf16	84226	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	2	27802448	27802448	+	Silent	SNP	G	G	A	rs370553692		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:27802448G>A	ENST00000408964.2	+	1	3060	c.3009G>A	c.(3007-3009)acG>acA	p.T1003T	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1003						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAAACTCAACGTTCAATGGTA	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		20637	0.001		0.0	False		,,,				2504	0.0					.											0								G		0,4088		0,0,2044	102.0	100.0	101.0		3009	2.1	0.0	2		101	1,8401		0,1,4200	no	coding-synonymous	C2orf16	NM_032266.3		0,1,6244	AA,AG,GG		0.0119,0.0,0.0080		1003/1985	27802448	1,12489	2044	4201	6245	SO:0001819	synonymous_variant	84226			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3009G>A	2.37:g.27802448G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	CCDS42666.1																																																																																				0.443	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266	
EHD3	30845	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	31484520	31484520	+	Missense_Mutation	SNP	C	C	T	rs370790409		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:31484520C>T	ENST00000322054.5	+	5	1306	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	341					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GATCTATGGCCGGATCGAGCG	0.572																																						.											0								C	TRP/ARG	0,4406		0,0,2203	129.0	123.0	125.0		1021	4.1	0.7	2		125	1,8599	1.2+/-3.3	0,1,4299	no	missense	EHD3	NM_014600.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	341/536	31484520	1,13005	2203	4300	6503	SO:0001583	missense	30845			AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.1021C>T	2.37:g.31484520C>T	ENSP00000327116:p.Arg341Trp	Somatic		WXS	Illumina HiSeq	Phase_I	B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437362	0.62955	0.0	1.16E-4	ENSG00000013016	ENST00000322054	T	0.18174	2.23	6.04	4.08	0.47627	.	0.093728	0.64402	D	0.000001	T	0.24314	0.0589	M	0.65498	2.005	0.80722	D	1	D	0.57899	0.981	P	0.44860	0.462	T	0.06826	-1.0805	10	0.87932	D	0	-22.374	15.4034	0.74858	0.2293:0.7707:0.0:0.0	.	341	Q9NZN3	EHD3_HUMAN	W	341	ENSP00000327116:R341W	ENSP00000327116:R341W	R	+	1	2	EHD3	31338024	1.000000	0.71417	0.730000	0.30809	0.107000	0.19398	3.007000	0.49536	2.873000	0.98535	0.561000	0.74099	CGG		0.572	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600	
BIRC6	57448	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	32713733	32713733	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:32713733A>G	ENST00000421745.2	+	42	8181	c.8047A>G	c.(8047-8049)Ata>Gta	p.I2683V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2683					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)			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)					TGGAGCAGACATATTTTTATA	0.318																																					Pancreas(94;175 1509 16028 18060 45422)	.											0													19.0	18.0	18.0					2																	32713733		2126	4166	6292	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.8047A>G	2.37:g.32713733A>G	ENSP00000393596:p.Ile2683Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	15.17	2.753814	0.49362	.	.	ENSG00000115760	ENST00000421745	T	0.74421	-0.84	5.67	5.67	0.87782	.	0.067092	0.64402	D	0.000012	T	0.57740	0.2074	N	0.19112	0.55	0.48087	D	0.999583	B	0.13594	0.008	B	0.17098	0.017	T	0.53718	-0.8399	10	0.13108	T	0.6	.	11.5764	0.50864	0.8509:0.149:0.0:0.0	.	2683	Q9NR09	BIRC6_HUMAN	V	2683	ENSP00000393596:I2683V	ENSP00000393596:I2683V	I	+	1	0	BIRC6	32567237	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.015000	0.57152	2.170000	0.68504	0.533000	0.62120	ATA		0.318	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
KCNG3	170850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	2	42720408	42720408	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:42720408G>A	ENST00000306078.1	-	1	829	c.234C>T	c.(232-234)cgC>cgT	p.R78R	KCNG3_ENST00000394973.4_Silent_p.R78R|MTA3_ENST00000405592.1_5'Flank	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	78					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						TGCCGTGGCCGCGCACGTAGA	0.647																																						.											0													30.0	29.0	30.0					2																	42720408		2198	4300	6498	SO:0001819	synonymous_variant	170850			AB070604	CCDS1809.1, CCDS42674.1	2p21	2011-07-05			ENSG00000171126	ENSG00000171126		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18306	protein-coding gene	gene with protein product		606767				11852086, 16382104	Standard	NM_133329		Approved	Kv6.3	uc002rsn.3	Q8TAE7	OTTHUMG00000128604	ENST00000306078.1:c.234C>T	2.37:g.42720408G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q53SC1	Silent	SNP	ENST00000306078.1	37	CCDS1809.1																																																																																				0.647	KCNG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250464.2	NM_172344	
CLHC1	130162	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	55408743	55408743	+	Missense_Mutation	SNP	G	G	A	rs368001227		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:55408743G>A	ENST00000401408.1	-	10	1489	c.1144C>T	c.(1144-1146)Cgg>Tgg	p.R382W	CLHC1_ENST00000407122.1_Missense_Mutation_p.R382W|CLHC1_ENST00000406076.1_Missense_Mutation_p.R260W|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406437.2_De_novo_Start_OutOfFrame	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	382																	AAATCTAACCGTTTTTCTGAT	0.343																																						.											0								G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	86.0	80.0	82.0		778,1144	5.8	1.0	2		82	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	C2orf63	NM_001135598.1,NM_152385.2	101,101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	260/465,382/587	55408743	2,13004	2203	4300	6503	SO:0001583	missense	130162				CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994			26453	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 63"""	C2orf63			Standard	NM_152385		Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.1144C>T	2.37:g.55408743G>A	ENSP00000384869:p.Arg382Trp	Somatic		WXS	Illumina HiSeq	Phase_I	B2RDV1|Q53R93|Q8N403	Missense_Mutation	SNP	ENST00000401408.1	37	CCDS33201.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391201	0.82902	0.0	2.33E-4	ENSG00000162994	ENST00000407122;ENST00000401408;ENST00000406076	T;T;T	0.52526	0.66;0.66;0.66	5.78	5.78	0.91487	Clathrin, heavy chain, linker (1);Armadillo-type fold (1);	0.180442	0.38837	N	0.001557	T	0.69070	0.3070	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70321	-0.4904	10	0.87932	D	0	-14.0778	17.2896	0.87152	0.0:0.0:1.0:0.0	.	382	Q8NHS4	CB063_HUMAN	W	382;382;260	ENSP00000385778:R382W;ENSP00000384869:R382W;ENSP00000385512:R260W	ENSP00000384869:R382W	R	-	1	2	C2orf63	55262247	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	3.922000	0.56462	2.894000	0.99253	0.591000	0.81541	CGG		0.343	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324412.4	NM_152385	
ETAA1	54465	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	2	67637129	67637129	+	Nonsense_Mutation	SNP	C	C	T	rs368100435		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:67637129C>T	ENST00000272342.5	+	6	2870	c.2740C>T	c.(2740-2742)Cga>Tga	p.R914*		NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	914						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GGCTAAAGCACGAGCCTCATC	0.373																																						.											0													94.0	112.0	106.0					2																	67637129		2203	4300	6503	SO:0001587	stop_gained	54465			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.2740C>T	2.37:g.67637129C>T	ENSP00000272342:p.Arg914*	Somatic		WXS	Illumina HiSeq	Phase_I	Q05BT7|Q53SC4	Nonsense_Mutation	SNP	ENST00000272342.5	37	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	C	41	8.572554	0.98868	.	.	ENSG00000143971	ENST00000272342	.	.	.	5.83	4.73	0.59995	.	0.322034	0.28135	N	0.016468	.	.	.	.	.	.	0.53688	D	0.999978	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-28.0792	11.0857	0.48086	0.0:0.8843:0.0:0.1157	.	.	.	.	X	914	.	ENSP00000272342:R914X	R	+	1	2	ETAA1	67490633	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.054000	0.49908	1.127000	0.42034	0.591000	0.81541	CGA		0.373	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002	
EGR4	1961	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	73520376	73520376	+	Missense_Mutation	SNP	C	C	T	rs370512012		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:73520376C>T	ENST00000545030.1	-	1	453	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	EGR4_ENST00000436467.2_Missense_Mutation_p.E24K	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	127					cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCGCTGGGTTCGGCGCAACAG	0.701																																						.											0													21.0	17.0	19.0					2																	73520376		2194	4292	6486	SO:0001583	missense	1961				CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625		"""Zinc fingers, C2H2-type"""	3241	protein-coding gene	gene with protein product		128992				1584812	Standard	NM_001965		Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000545030.1:c.379G>A	2.37:g.73520376C>T	ENSP00000445626:p.Glu127Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B2RAE3|G3V1T5|Q2Z1P5	Missense_Mutation	SNP	ENST00000545030.1	37	CCDS1925.2	.	.	.	.	.	.	.	.	.	.	C	12.50	1.956665	0.34565	.	.	ENSG00000135625	ENST00000545030;ENST00000436467	T;T	0.15372	2.43;2.83	4.06	2.19	0.27852	.	0.797021	0.10981	N	0.612656	T	0.10594	0.0259	N	0.24115	0.695	0.09310	N	1	B;B	0.22909	0.046;0.077	B;B	0.16722	0.007;0.016	T	0.31308	-0.9948	10	0.72032	D	0.01	-0.6171	3.9935	0.09548	0.0:0.5634:0.2109:0.2256	.	24;127	Q05215;G3V1T5	EGR4_HUMAN;.	K	127;24	ENSP00000445626:E127K;ENSP00000419687:E24K	ENSP00000419687:E24K	E	-	1	0	EGR4	73373884	0.000000	0.05858	0.080000	0.20451	0.537000	0.34900	0.041000	0.13927	0.345000	0.23873	0.561000	0.74099	GAA		0.701	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001965	
TCF7L1	83439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	85533623	85533623	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:85533623C>T	ENST00000282111.3	+	10	1473	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	400					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CGAGCTGGCCCGGAAGGAGCG	0.607																																						.											0													70.0	65.0	67.0					2																	85533623		2203	4300	6503	SO:0001583	missense	83439			X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.1198C>T	2.37:g.85533623C>T	ENSP00000282111:p.Arg400Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000282111.3	37	CCDS1971.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604526	0.66445	.	.	ENSG00000152284	ENST00000282111	D	0.98135	-4.74	4.74	2.88	0.33553	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.053873	0.64402	D	0.000001	D	0.98704	0.9565	M	0.92317	3.295	0.53005	D	0.999965	D	0.89917	1.0	D	0.80764	0.994	D	0.98574	1.0647	10	0.87932	D	0	.	9.2326	0.37446	0.1649:0.676:0.1591:0.0	.	400	Q9HCS4	TF7L1_HUMAN	W	400	ENSP00000282111:R400W	ENSP00000282111:R400W	R	+	1	2	TCF7L1	85387134	0.740000	0.28207	0.998000	0.56505	0.830000	0.47004	1.445000	0.35079	0.562000	0.29204	-0.293000	0.09583	CGG		0.607	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283	
POLR1A	25885	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	2	86315989	86315989	+	Missense_Mutation	SNP	T	T	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:86315989T>G	ENST00000263857.6	-	5	923	c.545A>C	c.(544-546)aAg>aCg	p.K182T	POLR1A_ENST00000409681.1_Missense_Mutation_p.K182T			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	182					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						ACACACGTTCTTTACCTGTTT	0.398																																						.											0													91.0	87.0	88.0					2																	86315989		1904	4113	6017	SO:0001583	missense	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.545A>C	2.37:g.86315989T>G	ENSP00000263857:p.Lys182Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	T	19.50	3.840075	0.71488	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.69435	-0.4;-0.38	6.07	6.07	0.98685	RNA polymerase Rpb1, domain 1 (1);	0.230096	0.47455	D	0.000221	T	0.76849	0.4045	L	0.52266	1.64	0.80722	D	1	D;D	0.60575	0.977;0.988	D;P	0.63877	0.919;0.869	T	0.77902	-0.2414	10	0.59425	D	0.04	-29.6231	16.3021	0.82825	0.0:0.0:0.0:1.0	.	182;182	B9ZVN9;O95602	.;RPA1_HUMAN	T	182	ENSP00000263857:K182T;ENSP00000386300:K182T	ENSP00000263857:K182T	K	-	2	0	POLR1A	86169500	1.000000	0.71417	0.990000	0.47175	0.925000	0.55904	7.073000	0.76784	2.326000	0.78906	0.533000	0.62120	AAG		0.398	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425	
ROPN1	54763	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	123689003	123689003	+	Missense_Mutation	SNP	G	G	A	rs140868038		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:123689003G>A	ENST00000184183.4	-	6	798	c.458C>T	c.(457-459)tCg>tTg	p.S153L	ROPN1_ENST00000405845.3_Missense_Mutation_p.S153L	NM_017578.2	NP_060048.2	Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	153						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S153L(1)		lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		GATCCGGGGCGACCCACCATT	0.433																																						.											1	Substitution - Missense(1)	skin(1)											144.0	128.0	133.0					3																	123689003		2203	4300	6503	SO:0001583	missense	54763			AF231410	CCDS3026.1	3q21.1	2011-01-20	2011-01-20			ENSG00000065371			17692	protein-coding gene	gene with protein product	"""cancer/testis antigen 91"""	611757	"""ropporin, rhophilin associated protein 1"""			10591629	Standard	NM_017578		Approved	ODF6, ropporin, ROPN1A, CT91	uc003eha.3	Q9HAT0		ENST00000184183.4:c.458C>T	3.37:g.123689003G>A	ENSP00000184183:p.Ser153Leu	Somatic		WXS	Illumina HiSeq	Phase_I	D3DN99|Q9UF38	Missense_Mutation	SNP	ENST00000184183.4	37	CCDS3026.1	.	.	.	.	.	.	.	.	.	.	G	7.115	0.576882	0.13686	.	.	ENSG00000065371	ENST00000184183;ENST00000405845	T;T	0.25749	1.78;1.78	4.84	3.06	0.35304	.	0.263021	0.28515	N	0.015079	T	0.18800	0.0451	L	0.29908	0.895	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.03641	-1.1017	10	0.44086	T	0.13	0.0093	11.6213	0.51119	0.0981:0.0:0.9019:0.0	.	153	Q9HAT0	ROP1A_HUMAN	L	153	ENSP00000184183:S153L;ENSP00000385919:S153L	ENSP00000184183:S153L	S	-	2	0	ROPN1	125171693	1.000000	0.71417	0.463000	0.27130	0.000000	0.00434	2.704000	0.47118	0.600000	0.29862	-0.921000	0.02739	TCG		0.433	ROPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356188.2	NM_017578	
CAND2	23066	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	3	12858741	12858741	+	Silent	SNP	G	G	A	rs371560476		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:12858741G>A	ENST00000456430.2	+	10	2351	c.2310G>A	c.(2308-2310)ccG>ccA	p.P770P	CAND2_ENST00000295989.5_Silent_p.P677P	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	770					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCCGTCCCCCGTGTGTGGACT	0.627																																					GBM(43;676 868 1633 6395 37496)	.											0								G	,	0,4074		0,0,2037	41.0	45.0	43.0		2310,2031	-8.3	0.0	3		43	1,8363		0,1,4181	no	coding-synonymous,coding-synonymous	CAND2	NM_001162499.1,NM_012298.2	,	0,1,6218	AA,AG,GG		0.012,0.0,0.0080	,	770/1237,677/1120	12858741	1,12437	2037	4182	6219	SO:0001819	synonymous_variant	23066				CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.2310G>A	3.37:g.12858741G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B9EGM9|E9KL24	Silent	SNP	ENST00000456430.2	37	CCDS54554.1																																																																																				0.627	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617	
ITGB5	3693	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	3	124515406	124515406	+	Missense_Mutation	SNP	C	C	T	rs576577571		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:124515406C>T	ENST00000296181.4	-	10	1818	c.1522G>A	c.(1522-1524)Gtg>Atg	p.V508M		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	508	Cysteine-rich tandem repeats.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TTCTGGTACACGCTCTGGTTC	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17297	0.0		0.0	False		,,,				2504	0.0					.											0													48.0	47.0	47.0					3																	124515406		2203	4300	6503	SO:0001583	missense	3693			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"""Integrins"""	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.1522G>A	3.37:g.124515406C>T	ENSP00000296181:p.Val508Met	Somatic		WXS	Illumina HiSeq	Phase_I	B0LPF8|B2RD70	Missense_Mutation	SNP	ENST00000296181.4	37	CCDS3030.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.330459	0.24167	.	.	ENSG00000082781	ENST00000296181	D	0.90732	-2.72	5.26	3.38	0.38709	.	1.165470	0.05915	N	0.632346	T	0.81927	0.4926	N	0.19112	0.55	0.09310	N	1	B	0.19073	0.033	B	0.10450	0.005	T	0.69285	-0.5185	10	0.46703	T	0.11	.	1.548	0.02569	0.2704:0.3406:0.2537:0.1353	.	508	P18084	ITB5_HUMAN	M	508	ENSP00000296181:V508M	ENSP00000296181:V508M	V	-	1	0	ITGB5	125998096	0.000000	0.05858	0.015000	0.15790	0.824000	0.46624	-0.244000	0.08903	1.426000	0.47256	0.563000	0.77884	GTG		0.657	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213	
IFT122	55764	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	3	129233374	129233374	+	Missense_Mutation	SNP	G	G	A	rs149245630		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:129233374G>A	ENST00000348417.2	+	25	3207	c.3130G>A	c.(3130-3132)Gcc>Acc	p.A1044T	IFT122_ENST00000431818.2_Missense_Mutation_p.A894T|IFT122_ENST00000504021.1_Missense_Mutation_p.A921T|IFT122_ENST00000296266.3_Missense_Mutation_p.A1095T|IFT122_ENST00000347300.2_Missense_Mutation_p.A985T|IFT122_ENST00000349441.2_Missense_Mutation_p.A934T|IFT122_ENST00000507564.1_Missense_Mutation_p.A1037T|IFT122_ENST00000440957.2_Missense_Mutation_p.A835T	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	1044					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GACCATCCGCGCCAAGCCCTT	0.612																																						.											0								G	THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	108.0	90.0	96.0		2953,3283,3130,2800	4.0	1.0	3	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	IFT122	NM_018262.2,NM_052985.2,NM_052989.1,NM_052990.1	58,58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	985/1183,1095/1293,1044/1242,934/1132	129233374	1,13005	2203	4300	6503	SO:0001583	missense	55764			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.3130G>A	3.37:g.129233374G>A	ENSP00000324005:p.Ala1044Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964504	0.53507	0.0	1.16E-4	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	T;T;T;T;T;T;T;T	0.65916	0.44;-0.18;-0.07;0.01;0.62;0.59;0.44;0.01	5.18	4.02	0.46733	.	0.113969	0.64402	D	0.000008	T	0.51210	0.1661	L	0.32530	0.975	0.35742	D	0.818777	B;B;B;B;P;P;B;B;B;B	0.34780	0.207;0.236;0.205;0.441;0.468;0.468;0.195;0.427;0.066;0.308	B;B;B;B;B;B;B;B;B;B	0.34991	0.07;0.079;0.038;0.066;0.065;0.053;0.065;0.193;0.015;0.057	T	0.61753	-0.6998	10	0.72032	D	0.01	-17.1118	12.0472	0.53487	0.0:0.0:0.1513:0.8487	.	835;370;1037;432;921;886;934;985;1044;1095	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	T	985;1095;1037;894;921;934;1044;886;835	ENSP00000323973:A985T;ENSP00000296266:A1095T;ENSP00000425536:A1037T;ENSP00000410946:A894T;ENSP00000422179:A921T;ENSP00000324165:A934T;ENSP00000324005:A1044T;ENSP00000401569:A835T	ENSP00000296266:A1095T	A	+	1	0	IFT122	130716064	1.000000	0.71417	0.997000	0.53966	0.750000	0.42670	4.037000	0.57311	0.822000	0.34565	-0.397000	0.06425	GCC		0.612	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262	
RAB6B	51560	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	3	133553468	133553468	+	Silent	SNP	C	C	T	rs370450177		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:133553468C>T	ENST00000285208.4	-	7	862	c.513G>A	c.(511-513)gcG>gcA	p.A171A	RAB6B_ENST00000486858.1_Silent_p.A158A|RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000543906.1_Silent_p.A171A	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	171					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						GTAGAGCCGACGCCACACGTC	0.502																																						.											0								C		0,4406		0,0,2203	116.0	119.0	118.0		513	-10.3	0.0	3		118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RAB6B	NM_016577.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		171/209	133553468	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51560			AF166492	CCDS3082.1	3q22.1	2008-05-15			ENSG00000154917	ENSG00000154917		"""RAB, member RAS oncogene"""	14902	protein-coding gene	gene with protein product		615852					Standard	NM_016577		Approved		uc003epy.3	Q9NRW1	OTTHUMG00000159749	ENST00000285208.4:c.513G>A	3.37:g.133553468C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2R5Z9|B7Z337|D3DND3|Q92929	Silent	SNP	ENST00000285208.4	37	CCDS3082.1																																																																																				0.502	RAB6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357152.1		
C3orf20	84077	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	14724594	14724594	+	Missense_Mutation	SNP	G	G	A	rs145497672		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:14724594G>A	ENST00000253697.3	+	3	826	c.374G>A	c.(373-375)cGt>cAt	p.R125H	C3orf20_ENST00000412910.1_Missense_Mutation_p.R3H|C3orf20_ENST00000435614.1_Missense_Mutation_p.R3H	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	125						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						ACCATGGCCCGTCAGGTGCGC	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18501	0.0		0.0	False		,,,				2504	0.0					.											0								G	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	48.0	47.0	48.0		8,8,374	-7.1	0.0	3	dbSNP_134	48	0,8600		0,0,4300	yes	missense,missense,missense	C3orf20	NM_001184957.1,NM_001184958.1,NM_032137.4	29,29,29	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign,benign,benign	3/783,3/783,125/905	14724594	4,13002	2203	4300	6503	SO:0001583	missense	84077			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.374G>A	3.37:g.14724594G>A	ENSP00000253697:p.Arg125His	Somatic		WXS	Illumina HiSeq	Phase_I	Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265751	0.23136	9.08E-4	0.0	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.09350	3.37;2.99;2.99	4.51	-7.14	0.01527	.	1.704600	0.03351	N	0.196276	T	0.05914	0.0154	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31641	-0.9936	10	0.27082	T	0.32	1.064	10.1083	0.42546	0.6525:0.0982:0.2493:0.0	.	125	Q8ND61	CC020_HUMAN	H	125;3;3	ENSP00000253697:R125H;ENSP00000402933:R3H;ENSP00000396081:R3H	ENSP00000253697:R125H	R	+	2	0	C3orf20	14699598	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.418000	0.02462	-1.708000	0.01401	-1.864000	0.00558	CGT		0.622	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137	
ATR	545	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	3	142272665	142272665	+	Splice_Site	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:142272665A>G	ENST00000350721.4	-	11	2654		c.e11+1		ATR_ENST00000383101.3_Splice_Site	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase						cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AAAATTATCAACCTCCTTTAT	0.308								Other conserved DNA damage response genes																														.											0													68.0	68.0	68.0					3																	142272665		2202	4299	6501	SO:0001630	splice_region_variant	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2532+1T>C	3.37:g.142272665A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Splice_Site	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.199697	0.79015	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3122	0.74042	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATR	143755355	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.323000	0.72891	2.027000	0.59764	0.477000	0.44152	.		0.308	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	Intron
EIF4G1	1981	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	3	184038753	184038753	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:184038753G>A	ENST00000346169.2	+	9	940	c.669G>A	c.(667-669)acG>acA	p.T223T	EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Silent_p.T183T|EIF4G1_ENST00000424196.1_Silent_p.T230T|EIF4G1_ENST00000350481.5_Silent_p.T59T|EIF4G1_ENST00000342981.4_Silent_p.T223T|EIF4G1_ENST00000414031.1_Silent_p.T183T|EIF4G1_ENST00000319274.6_Silent_p.T223T|EIF4G1_ENST00000435046.2_Silent_p.T27T|EIF4G1_ENST00000382330.3_Silent_p.T230T|EIF4G1_ENST00000392537.2_Silent_p.T136T|EIF4G1_ENST00000427845.1_Silent_p.T136T|EIF4G1_ENST00000434061.2_Silent_p.T27T|EIF4G1_ENST00000441154.1_Silent_p.T59T|EIF4G1_ENST00000352767.3_Silent_p.T230T	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	223					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATGGGGAGACGCCCCAGGTTG	0.532																																						.											0													48.0	46.0	47.0					3																	184038753		2203	4300	6503	SO:0001819	synonymous_variant	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.669G>A	3.37:g.184038753G>A		Somatic		WXS	Illumina HiSeq	Phase_I	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	CCDS3259.1																																																																																				0.532	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917	
CLCN2	1181	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	3	184073265	184073265	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:184073265C>T	ENST00000265593.4	-	12	1394	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.R364H|CLCN2_ENST00000344937.7_Missense_Mutation_p.R408H|CLCN2_ENST00000475279.1_5'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.R408H|CLCN2_ENST00000423355.2_Missense_Mutation_p.R49H	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	408					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CAGGCCCTGGCGGACCCACGT	0.587																																						.											0													129.0	115.0	120.0					3																	184073265		2203	4300	6503	SO:0001583	missense	1181			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1223G>A	3.37:g.184073265C>T	ENSP00000265593:p.Arg408His	Somatic		WXS	Illumina HiSeq	Phase_I	B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	c	13.81	2.349514	0.41599	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000423355;ENST00000434054;ENST00000457512	D;D;T;D;D	0.85013	-1.88;-1.83;-0.36;-1.93;-1.92	5.6	3.81	0.43845	Chloride channel, core (2);	0.322809	0.33732	N	0.004606	T	0.78572	0.4304	L	0.40543	1.245	0.33251	D	0.558472	B;B;B;B;B	0.18741	0.02;0.03;0.013;0.011;0.03	B;B;B;B;B	0.19391	0.013;0.025;0.01;0.004;0.015	T	0.75825	-0.3181	10	0.56958	D	0.05	-8.8308	9.476	0.38871	0.0:0.6653:0.0:0.3347	.	408;364;408;408;408	B4DYE3;E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;.;CLCN2_HUMAN	H	408;408;49;364;408	ENSP00000265593:R408H;ENSP00000345056:R408H;ENSP00000412226:R49H;ENSP00000400425:R364H;ENSP00000391928:R408H	ENSP00000265593:R408H	R	-	2	0	CLCN2	185555959	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	1.782000	0.38654	0.342000	0.23796	-1.119000	0.02030	CGC		0.587	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1		
TP63	8626	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	3	189526150	189526150	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:189526150C>T	ENST00000264731.3	+	4	503	c.414C>T	c.(412-414)caC>caT	p.H138H	TP63_ENST00000392461.3_Silent_p.H44H|TP63_ENST00000392463.2_Silent_p.H44H|TP63_ENST00000392460.3_Silent_p.H138H|TP63_ENST00000320472.5_Silent_p.H138H|TP63_ENST00000456148.1_Silent_p.H44H|TP63_ENST00000449992.1_Intron|TP63_ENST00000437221.1_Silent_p.H44H|TP63_ENST00000382063.4_Intron|TP63_ENST00000418709.2_Silent_p.H138H|TP63_ENST00000354600.5_Silent_p.H44H|TP63_ENST00000440651.2_Silent_p.H138H	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	138					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACACAGACCACGCGCAGAACA	0.612										HNSCC(45;0.13)																												.											0													180.0	135.0	150.0					3																	189526150		2203	4300	6503	SO:0001819	synonymous_variant	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.414C>T	3.37:g.189526150C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Silent	SNP	ENST00000264731.3	37	CCDS3293.1																																																																																				0.612	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722	
ATP13A3	79572	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	194149621	194149621	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:194149621T>C	ENST00000439040.1	-	28	3691	c.2900A>G	c.(2899-2901)cAg>cGg	p.Q967R	ATP13A3_ENST00000256031.4_Missense_Mutation_p.Q967R			Q9H7F0	AT133_HUMAN	ATPase type 13A3	967						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GAAGAGAAACTGGAAGTCTCC	0.294																																						.											0													59.0	55.0	56.0					3																	194149621		1809	4065	5874	SO:0001583	missense	79572			AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.2900A>G	3.37:g.194149621T>C	ENSP00000416508:p.Gln967Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.751223	0.89753	.	.	ENSG00000133657	ENST00000439040;ENST00000256031	D;D	0.92249	-3.0;-3.0	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.97015	0.9025	M	0.94021	3.485	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.97978	1.0347	10	0.87932	D	0	0.0469	15.3339	0.74234	0.0:0.0:0.0:1.0	.	967	Q9H7F0	AT133_HUMAN	R	967	ENSP00000416508:Q967R;ENSP00000256031:Q967R	ENSP00000256031:Q967R	Q	-	2	0	ATP13A3	195630910	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.673000	0.83973	2.279000	0.76181	0.533000	0.62120	CAG		0.294	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524	
CIDEC	63924	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	9918797	9918797	+	Missense_Mutation	SNP	C	C	T	rs148744468		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:9918797C>T	ENST00000336832.2	-	3	299	c.160G>A	c.(160-162)Gtg>Atg	p.V54M	CIDEC_ENST00000423850.1_Intron|CIDEC_ENST00000383817.1_Missense_Mutation_p.V54M|CIDEC_ENST00000443115.1_Missense_Mutation_p.V54M|CIDEC_ENST00000430427.1_Missense_Mutation_p.V54M|CIDEC_ENST00000455015.1_Intron	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	54	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|lipid particle organization (GO:0034389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					CCCTTCCTCACGCTTCGATCC	0.647																																						.											0								C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4330		0,0,2165	54.0	42.0	46.0		160,160,199,160	1.5	0.1	3	dbSNP_134	46	1,8485		0,1,4242	no	missense,missense,missense,missense	CIDEC	NM_001199551.1,NM_001199552.1,NM_001199623.1,NM_022094.3	21,21,21,21	0,1,6407	TT,TC,CC		0.0118,0.0,0.0078	probably-damaging,probably-damaging,probably-damaging,probably-damaging	54/249,54/239,67/252,54/239	9918797	1,12815	2165	4243	6408	SO:0001583	missense	63924				CCDS2587.1, CCDS56239.1, CCDS74897.1	3p25	2004-07-26			ENSG00000187288	ENSG00000187288			24229	protein-coding gene	gene with protein product		612120				12429024	Standard	NM_001199623		Approved	CIDE-3, FLJ20871, Fsp27	uc021wsw.1	Q96AQ7	OTTHUMG00000128522	ENST00000336832.2:c.160G>A	3.37:g.9918797C>T	ENSP00000338642:p.Val54Met	Somatic		WXS	Illumina HiSeq	Phase_I	C9JMN7|Q67DW9|Q9GZY9	Missense_Mutation	SNP	ENST00000336832.2	37	CCDS2587.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631938	0.29068	0.0	1.18E-4	ENSG00000187288	ENST00000336832;ENST00000383817;ENST00000430427;ENST00000443115	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.3	1.45	0.22620	Caspase-activated nuclease CIDE-N (3);	0.483231	0.22273	N	0.062225	T	0.32556	0.0833	M	0.76574	2.34	0.09310	N	1	P;P;B	0.47034	0.889;0.586;0.063	B;B;B	0.34138	0.154;0.176;0.044	T	0.29941	-0.9995	10	0.45353	T	0.12	-14.8423	5.16	0.15056	0.0:0.4801:0.2798:0.2401	.	54;54;54	Q96AQ7-3;Q96AQ7;C9JMN7	.;CIDEC_HUMAN;.	M	54	ENSP00000338642:V54M;ENSP00000373328:V54M;ENSP00000408631:V54M;ENSP00000411356:V54M	ENSP00000338642:V54M	V	-	1	0	CIDEC	9893797	0.000000	0.05858	0.055000	0.19348	0.047000	0.14425	-0.264000	0.08658	0.377000	0.24735	-0.133000	0.14855	GTG		0.647	CIDEC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250334.1	NM_022094	
EFHB	151651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	19921161	19921161	+	Missense_Mutation	SNP	G	G	A	rs368362844		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:19921161G>A	ENST00000295824.9	-	13	2625	c.2464C>T	c.(2464-2466)Cgg>Tgg	p.R822W	EFHB_ENST00000344838.4_Missense_Mutation_p.R692W	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	822							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TCTGCATGCCGTAGCTCATCT	0.343																																						.											0								G	TRP/ARG	0,4406		0,0,2203	226.0	207.0	214.0		2464	4.7	0.0	3		214	1,8599	1.2+/-3.3	0,1,4299	no	missense	EFHB	NM_144715.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	822/834	19921161	1,13005	2203	4300	6503	SO:0001583	missense	151651			AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.2464C>T	3.37:g.19921161G>A	ENSP00000295824:p.Arg822Trp	Somatic		WXS	Illumina HiSeq	Phase_I	A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	G	11.05	1.526148	0.27299	0.0	1.16E-4	ENSG00000163576	ENST00000295824;ENST00000344838	T;T	0.24350	1.86;1.87	5.57	4.7	0.59300	.	0.302763	0.31167	N	0.008136	T	0.16085	0.0387	N	0.14661	0.345	0.09310	N	1	P;D	0.56968	0.923;0.978	B;B	0.43916	0.436;0.226	T	0.07290	-1.0780	9	.	.	.	-0.4946	10.3889	0.44156	0.0901:0.0:0.9099:0.0	.	692;822	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	W	822;692	ENSP00000295824:R822W;ENSP00000342263:R692W	.	R	-	1	2	EFHB	19896165	0.516000	0.26218	0.037000	0.18230	0.109000	0.19521	1.787000	0.38704	1.360000	0.45960	-0.136000	0.14681	CGG		0.343	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715	
GADL1	339896	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	3	30769804	30769804	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:30769804C>T	ENST00000282538.5	-	15	1646	c.1496G>A	c.(1495-1497)aGc>aAc	p.S499N	GADL1_ENST00000498387.1_5'UTR	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	499					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						CACTTGAGGGCTGATCACCAC	0.552																																						.											0													130.0	119.0	123.0					3																	30769804		2203	4300	6503	SO:0001583	missense	339896			AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.1496G>A	3.37:g.30769804C>T	ENSP00000282538:p.Ser499Asn	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000282538.5	37	CCDS2649.2	.	.	.	.	.	.	.	.	.	.	C	4.865	0.160842	0.09287	.	.	ENSG00000144644	ENST00000282538	T	0.32753	1.44	5.91	5.04	0.67666	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.095913	0.64402	D	0.000002	T	0.11707	0.0285	N	0.02120	-0.675	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.16188	-1.0411	10	0.02654	T	1	-0.3994	14.9266	0.70884	0.0:0.9317:0.0:0.0683	.	499	Q6ZQY3	GADL1_HUMAN	N	499	ENSP00000282538:S499N	ENSP00000282538:S499N	S	-	2	0	GADL1	30744808	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.242000	0.32755	1.501000	0.48654	0.655000	0.94253	AGC		0.552	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359	
STT3B	201595	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	3	31617961	31617961	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:31617961G>A	ENST00000295770.2	+	2	597	c.388G>A	c.(388-390)Gca>Aca	p.A130T	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	130					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TGATGAAAGAGCATGGTATCC	0.289																																						.											0													104.0	109.0	107.0					3																	31617961		2203	4294	6497	SO:0001583	missense	201595			AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"""source of immunodominant MHC associated peptides"", ""dolichyl-diphosphooligosaccharide protein glycotransferase"""	608605	"""STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"""			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.388G>A	3.37:g.31617961G>A	ENSP00000295770:p.Ala130Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q96JZ4|Q96KY7	Missense_Mutation	SNP	ENST00000295770.2	37	CCDS2650.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942467	0.73672	.	.	ENSG00000163527	ENST00000295770	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.72087	0.3417	L	0.45352	1.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63510	-0.6621	9	0.10377	T	0.69	-13.3357	19.7278	0.96172	0.0:0.0:1.0:0.0	.	130	Q8TCJ2	STT3B_HUMAN	T	130	.	ENSP00000295770:A130T	A	+	1	0	STT3B	31592965	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.656000	0.90262	0.591000	0.81541	GCA		0.289	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253166.2	NM_178862	
DCLK3	85443	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	36759593	36759593	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:36759593C>T	ENST00000416516.2	-	4	2151	c.1661G>A	c.(1660-1662)cGc>cAc	p.R554H	DCLK3_ENST00000498047.1_5'UTR	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	554	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> C (in a lung squamous cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.			cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CTCAGGGCTGCGGAATGGGGG	0.552																																						.											0													153.0	166.0	162.0					3																	36759593		2066	4229	6295	SO:0001583	missense	85443			AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1661G>A	3.37:g.36759593C>T	ENSP00000394484:p.Arg554His	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000416516.2	37	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.921101	0.92249	.	.	ENSG00000163673	ENST00000416516	T	0.66280	-0.2	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32147	N	0.006510	T	0.74076	0.3669	L	0.41573	1.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73688	-0.3904	10	0.52906	T	0.07	.	19.7913	0.96458	0.0:1.0:0.0:0.0	.	554	Q9C098	DCLK3_HUMAN	H	554	ENSP00000394484:R554H	ENSP00000394484:R554H	R	-	2	0	DCLK3	36734597	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	7.818000	0.86416	2.765000	0.95021	0.555000	0.69702	CGC		0.552	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355	
SLC22A13	9390	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	38316965	38316965	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:38316965C>T	ENST00000311856.4	+	5	960	c.911C>T	c.(910-912)cCg>cTg	p.P304L	SLC22A13_ENST00000450935.2_3'UTR	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	304					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		AAACTCTCCCCGGAGCTCATG	0.602																																						.											0													58.0	58.0	58.0					3																	38316965		2203	4300	6503	SO:0001583	missense	9390			AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"""Solute carriers"""	8494	protein-coding gene	gene with protein product		604047	"""organic cationic transporter-like 3"", ""solute carrier family 22 (organic anion transporter), member 13"""	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.911C>T	3.37:g.38316965C>T	ENSP00000310241:p.Pro304Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B2RCV9|Q8IYG1	Missense_Mutation	SNP	ENST00000311856.4	37	CCDS2676.1	.	.	.	.	.	.	.	.	.	.	C	4.118	0.020056	0.08006	.	.	ENSG00000172940	ENST00000311856	T	0.74315	-0.83	4.84	2.9	0.33743	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.289868	0.39146	N	0.001457	T	0.59266	0.2181	L	0.35542	1.07	0.19775	N	0.999958	B;B	0.17268	0.017;0.021	B;B	0.15484	0.008;0.013	T	0.44436	-0.9328	10	0.25751	T	0.34	.	8.7276	0.34478	0.1484:0.7713:0.0:0.0803	.	304;304	Q9Y226-2;Q9Y226	.;S22AD_HUMAN	L	304	ENSP00000310241:P304L	ENSP00000310241:P304L	P	+	2	0	SLC22A13	38291969	0.000000	0.05858	0.002000	0.10522	0.169000	0.22640	0.837000	0.27558	1.174000	0.42811	0.655000	0.94253	CCG		0.602	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253746.2	NM_004256	
ZNF621	285268	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	40573994	40573994	+	Missense_Mutation	SNP	C	C	T	rs144763141		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:40573994C>T	ENST00000339296.5	+	5	1185	c.733C>T	c.(733-735)Cgt>Tgt	p.R245C	ZNF621_ENST00000403205.2_Missense_Mutation_p.R245C|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000431278.1_Missense_Mutation_p.R134C|ZNF621_ENST00000310898.1_Intron	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		AAAGGCTTTCCGTAGGAGTGC	0.453																																						.											0								C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	85.0	90.0	89.0		733,733	3.1	1.0	3	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF621	NM_001098414.1,NM_198484.3	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	245/440,245/440	40573994	1,13005	2203	4300	6503	SO:0001583	missense	285268			AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"""Zinc fingers, C2H2-type"", ""-"""	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.733C>T	3.37:g.40573994C>T	ENSP00000340841:p.Arg245Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q14DC7|Q8TE91	Missense_Mutation	SNP	ENST00000339296.5	37	CCDS2693.1	.	.	.	.	.	.	.	.	.	.	c	5.829	0.337228	0.11013	0.0	1.16E-4	ENSG00000172888	ENST00000403205;ENST00000339296;ENST00000431278	T;T;T	0.18502	2.21;2.21;2.21	3.94	3.06	0.35304	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.206892	0.24409	N	0.038765	T	0.26702	0.0653	L	0.43554	1.36	0.80722	D	1	B;D	0.76494	0.06;0.999	B;P	0.61658	0.013;0.892	T	0.01169	-1.1430	10	0.44086	T	0.13	.	9.8917	0.41294	0.0:0.8967:0.0:0.1033	.	134;245	C9JZC2;Q6ZSS3	.;ZN621_HUMAN	C	245;245;134	ENSP00000386051:R245C;ENSP00000340841:R245C;ENSP00000413236:R134C	ENSP00000340841:R245C	R	+	1	0	ZNF621	40548998	0.000000	0.05858	0.955000	0.39395	0.054000	0.15201	-1.398000	0.02509	1.251000	0.43983	-0.253000	0.11424	CGT		0.453	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484	
ZNF197	10168	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	44684294	44684294	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:44684294C>T	ENST00000396058.1	+	5	1839	c.1672C>T	c.(1672-1674)Cga>Tga	p.R558*	ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000344387.4_Nonsense_Mutation_p.R558*|ZNF197_ENST00000383744.4_Intron|RP11-944L7.4_ENST00000457331.1_RNA			O14709	ZN197_HUMAN	zinc finger protein 197	558					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		TGACCATCAGCGACTCCACAG	0.428																																						.											0													76.0	82.0	80.0					3																	44684294		2203	4299	6502	SO:0001587	stop_gained	10168			AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.1672C>T	3.37:g.44684294C>T	ENSP00000379370:p.Arg558*	Somatic		WXS	Illumina HiSeq	Phase_I	B2RAH8|Q86VG0	Nonsense_Mutation	SNP	ENST00000396058.1	37	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	A	33	5.289130	0.95517	.	.	ENSG00000186448	ENST00000344387;ENST00000396058	.	.	.	3.63	2.74	0.32292	.	0.000000	0.28465	U	0.015256	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.6139	0.04899	0.1945:0.5128:0.1883:0.1044	.	.	.	.	X	558	.	ENSP00000345809:R558X	R	+	1	2	ZNF197	44659298	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	0.058000	0.14301	1.080000	0.41073	0.454000	0.30748	CGA		0.428	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991	
COL7A1	1294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	48626075	48626075	+	Splice_Site	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:48626075G>A	ENST00000328333.8	-	19	2694	c.2587C>T	c.(2587-2589)Ccg>Tcg	p.P863S	COL7A1_ENST00000454817.1_Splice_Site_p.P863S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	863	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCTGCCTACGCGTAGTGACA	0.582																																						.											0													68.0	71.0	70.0					3																	48626075		2203	4300	6503	SO:0001630	splice_region_variant	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.2587+1C>T	3.37:g.48626075G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466665	0.26335	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.54866	0.55;0.55	5.38	5.38	0.77491	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.45867	D	0.000330	T	0.52435	0.1734	L	0.54323	1.7	0.45366	D	0.998355	P	0.49862	0.929	B	0.42798	0.398	T	0.52845	-0.8521	9	.	.	.	.	18.2888	0.90122	0.0:0.0:1.0:0.0	.	863	Q02388	CO7A1_HUMAN	S	863	ENSP00000332371:P863S;ENSP00000412569:P863S	.	P	-	1	0	COL7A1	48601079	1.000000	0.71417	0.999000	0.59377	0.058000	0.15608	4.006000	0.57083	2.686000	0.91538	0.655000	0.94253	CCG		0.582	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	Missense_Mutation
NDUFAF3	25915	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	3	49059935	49059935	+	Silent	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:49059935C>A	ENST00000326925.6	+	2	1368	c.234C>A	c.(232-234)ccC>ccA	p.P78P	NDUFAF3_ENST00000326912.4_Silent_p.P21P|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000313778.5_5'Flank|DALRD3_ENST00000440857.1_5'Flank|DALRD3_ENST00000496568.1_5'Flank|MIR191_ENST00000384873.1_RNA|NDUFAF3_ENST00000395458.2_Silent_p.P21P|NDUFAF3_ENST00000451378.2_Silent_p.P21P	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	78					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						TGCTCGGCCCCTGCGCTCTGC	0.632																																						.											0													23.0	23.0	23.0					3																	49059935		2202	4300	6502	SO:0001819	synonymous_variant	25915				CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"""Mitochondrial respiratory chain complex assembly factors"""	29918	protein-coding gene	gene with protein product		612911	"""chromosome 3 open reading frame 60"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"""	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.234C>A	3.37:g.49059935C>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000326925.6	37	CCDS2784.1																																																																																				0.632	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069	
APEH	327	hgsc.bcm.edu;mdanderson.org	37	3	49723817	49723817	+	IGR	SNP	G	G	A	rs146923247	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:49723817G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_Silent_p.G240G|MST1_ENST00000545762.1_3'UTR|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Silent_p.G315G	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGCAAGGTACGCCCGCAGTGG	0.652																																						.											0													35.0	33.0	33.0					3																	49723817		2202	4297	6499	SO:0001628	intergenic_variant	4485			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723817G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q9BQ33|Q9P0Y2	Silent	SNP	ENST00000296456.5	37	CCDS2801.1																																																																																				0.652	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2		
RBM6	10180	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	50005642	50005642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:50005642C>T	ENST00000266022.4	+	3	1043	c.784C>T	c.(784-786)Cga>Tga	p.R262*	RBM6_ENST00000443081.1_Nonsense_Mutation_p.R130*|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	262					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGGTAGACACCGATCTAGGAC	0.448																																						.											0													83.0	85.0	84.0					3																	50005642		2203	4300	6503	SO:0001587	stop_gained	10180			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.784C>T	3.37:g.50005642C>T	ENSP00000266022:p.Arg262*	Somatic		WXS	Illumina HiSeq	Phase_I	O60549|O75524|Q86SS3	Nonsense_Mutation	SNP	ENST00000266022.4	37	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576649	0.65878	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	.	.	.	6.04	5.16	0.70880	.	0.237148	0.34853	N	0.003622	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.8677	8.0479	0.30559	0.3512:0.5757:0.0:0.0731	.	.	.	.	X	262;130	.	.	R	+	1	2	RBM6	49980646	0.920000	0.31207	0.998000	0.56505	0.992000	0.81027	2.172000	0.42463	1.543000	0.49345	0.561000	0.74099	CGA		0.448	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777	
DNAH1	25981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	52420183	52420183	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:52420183C>T	ENST00000420323.2	+	55	8894	c.8633C>T	c.(8632-8634)aCg>aTg	p.T2878M		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2878	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGGTGGATACGGCCATCGCC	0.552																																						.											0													50.0	54.0	53.0					3																	52420183		2050	4200	6250	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.8633C>T	3.37:g.52420183C>T	ENSP00000401514:p.Thr2878Met	Somatic		WXS	Illumina HiSeq	Phase_I	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846980	0.71603	.	.	ENSG00000114841	ENST00000420323	T	0.77358	-1.09	4.86	4.86	0.63082	.	0.000000	0.49916	D	0.000136	D	0.90854	0.7127	M	0.93062	3.375	0.50467	D	0.999872	D	0.89917	1.0	D	0.79784	0.993	D	0.92965	0.6392	10	0.72032	D	0.01	.	18.1681	0.89734	0.0:1.0:0.0:0.0	.	2878	C9JXH6	.	M	2878	ENSP00000401514:T2878M	ENSP00000401514:T2878M	T	+	2	0	DNAH1	52395223	1.000000	0.71417	0.994000	0.49952	0.934000	0.57294	7.039000	0.76544	2.518000	0.84900	0.563000	0.77884	ACG		0.552	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	
STAB1	23166	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	3	52552013	52552013	+	Silent	SNP	C	C	T	rs185967985		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:52552013C>T	ENST00000321725.6	+	45	4831	c.4755C>T	c.(4753-4755)gtC>gtT	p.V1585V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1585	FAS1 5. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GTGCCCGAGTCGGCCTGGTAA	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		19871	0.0		0.001	False		,,,				2504	0.0					.											0													55.0	57.0	56.0					3																	52552013		2203	4300	6503	SO:0001819	synonymous_variant	23166			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4755C>T	3.37:g.52552013C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	CCDS33768.1																																																																																				0.602	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	
ATXN7	6314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	63981293	63981293	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:63981293G>A	ENST00000295900.6	+	12	2345	c.1795G>A	c.(1795-1797)Gtc>Atc	p.V599I	ATXN7_ENST00000484332.1_Missense_Mutation_p.V454I|ATXN7_ENST00000487717.1_Missense_Mutation_p.V599I|ATXN7_ENST00000538065.1_Missense_Mutation_p.V599I|ATXN7_ENST00000398590.3_Missense_Mutation_p.V599I	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	599					cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		AGCAGCCACCGTCTCTACATC	0.537																																						.											0													125.0	130.0	128.0					3																	63981293		2200	4299	6499	SO:0001583	missense	6314			AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.1795G>A	3.37:g.63981293G>A	ENSP00000295900:p.Val599Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	ENST00000295900.6	37	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	G	1.445	-0.566474	0.03910	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.14640	2.5;2.51;2.51;2.5;2.49	5.33	2.56	0.30785	.	0.430246	0.24381	N	0.039018	T	0.06142	0.0159	N	0.22421	0.69	0.09310	N	1	B;B;P	0.39737	0.396;0.017;0.685	B;B;B	0.28385	0.038;0.003;0.089	T	0.35798	-0.9774	10	0.07325	T	0.83	-0.3532	10.9505	0.47325	0.2054:0.0:0.7946:0.0	.	454;599;599	E9PHP9;O15265-2;O15265	.;.;ATX7_HUMAN	I	599;599;599;599;454	ENSP00000381590:V599I;ENSP00000295900:V599I;ENSP00000420234:V599I;ENSP00000439585:V599I;ENSP00000428277:V454I	ENSP00000295900:V599I	V	+	1	0	ATXN7	63956333	0.054000	0.20591	0.008000	0.14137	0.002000	0.02628	0.283000	0.18846	0.253000	0.21552	-0.156000	0.13503	GTC		0.537	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333	
GPR27	2850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	3	71804265	71804265	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:71804265C>T	ENST00000304411.2	+	1	1065	c.1065C>T	c.(1063-1065)tgC>tgT	p.C355C	EIF4E3_ENST00000448225.1_5'Flank|EIF4E3_ENST00000295612.3_5'Flank|EIF4E3_ENST00000421769.2_5'Flank	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	355					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		AGTTCCCCTGCTGCCAGAGCC	0.647																																						.											0													14.0	14.0	14.0					3																	71804265		2160	4226	6386	SO:0001819	synonymous_variant	2850			AB040799	CCDS2915.1	3p21-p14	2012-08-21			ENSG00000170837	ENSG00000170837		"""GPCR / Class A : Orphans"""	4482	protein-coding gene	gene with protein product		605187				10833454	Standard	NM_018971		Approved	SREB1	uc011bge.2	Q9NS67	OTTHUMG00000158810	ENST00000304411.2:c.1065C>T	3.37:g.71804265C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000304411.2	37	CCDS2915.1																																																																																				0.647	GPR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352303.1	NM_018971	
ROBO1	6091	hgsc.bcm.edu;ucsc.edu	37	3	78666912	78666912	+	Silent	SNP	G	G	A	rs536505138		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:78666912G>A	ENST00000464233.1	-	27	4268	c.4155C>T	c.(4153-4155)agC>agT	p.S1385S	ROBO1_ENST00000467549.1_Silent_p.S1285S|ROBO1_ENST00000436010.2_Silent_p.S1346S|ROBO1_ENST00000495273.1_Silent_p.S1340S	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1385					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.S1362S(1)|p.S1340S(1)|p.S1385S(1)|p.S1389S(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGGAGCGTCCGCTGGAAATGT	0.577																																						.											4	Substitution - coding silent(4)	lung(4)											53.0	60.0	57.0					3																	78666912		1967	4136	6103	SO:0001819	synonymous_variant	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4155C>T	3.37:g.78666912G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	ENST00000464233.1	37	CCDS54611.1																																																																																				0.577	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	
CGGBP1	8545	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	3	88105046	88105046	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:88105046G>A	ENST00000398392.2	-	1	1413	c.81C>T	c.(79-81)gtC>gtT	p.V27V	CGGBP1_ENST00000309534.6_Silent_p.V27V|CGGBP1_ENST00000462901.1_Silent_p.V27V|CGGBP1_ENST00000482016.1_Silent_p.V27V|CGGBP1_ENST00000474441.1_5'Flank			Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	27					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		CAAACTCAGTGACTCGATCCA	0.453																																						.											0													103.0	103.0	103.0					3																	88105046		1990	4178	6168	SO:0001819	synonymous_variant	8545			AJ000258	CCDS43111.1	3p12-p11.1	2008-07-18			ENSG00000163320	ENSG00000163320			1888	protein-coding gene	gene with protein product	"""p20-CGG binding protein"""	603363				9201980, 14667814	Standard	NM_001195308		Approved	p20-CGGBP, CGGBP	uc003dqt.3	Q9UFW8	OTTHUMG00000159009	ENST00000398392.2:c.81C>T	3.37:g.88105046G>A		Somatic		WXS	Illumina HiSeq	Phase_I	D3DU38|O15183	Silent	SNP	ENST00000398392.2	37	CCDS43111.1																																																																																				0.453	CGGBP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352955.1	NM_001008390	
DLG1	1739	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	3	196792176	196792176	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:196792176C>T	ENST00000419354.1	-	23	2663	c.2377G>A	c.(2377-2379)Gtt>Att	p.V793I	DLG1_ENST00000448528.2_Missense_Mutation_p.V793I|DLG1_ENST00000357674.4_Missense_Mutation_p.V782I|DLG1_ENST00000346964.2_Missense_Mutation_p.V815I|DLG1_ENST00000452595.1_Missense_Mutation_p.V677I|DLG1_ENST00000314062.3_Missense_Mutation_p.V742I|DLG1_ENST00000443183.1_Missense_Mutation_p.V689I|DLG1_ENST00000450955.1_Missense_Mutation_p.V782I|DLG1_ENST00000392382.2_Missense_Mutation_p.V760I|DLG1_ENST00000422288.1_Missense_Mutation_p.V742I			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	793	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		ACAGACTGAACACTTGTTCCA	0.373																																						.											0													235.0	236.0	235.0					3																	196792176		2203	4300	6503	SO:0001583	missense	1739			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.2377G>A	3.37:g.196792176C>T	ENSP00000407531:p.Val793Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268692	0.40095	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955	T;T;T;T;T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31	5.32	5.32	0.75619	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.11024	0.0269	N	0.12663	0.25	0.49582	D	0.999805	B;P;B;P;B	0.40302	0.087;0.712;0.174;0.479;0.145	B;B;B;B;B	0.38225	0.025;0.252;0.075;0.268;0.045	T	0.24225	-1.0166	10	0.14252	T	0.57	.	17.9766	0.89129	0.0:1.0:0.0:0.0	.	782;677;689;793;815	Q12959-4;E9PG21;E7EWL7;Q12959;Q12959-2	.;.;.;DLG1_HUMAN;.	I	815;806;782;780;742;793;677;742;793;689;760;782	ENSP00000345731:V815I;ENSP00000350303:V782I;ENSP00000321087:V742I;ENSP00000407531:V793I;ENSP00000398939:V677I;ENSP00000413238:V742I;ENSP00000391732:V793I;ENSP00000396658:V689I;ENSP00000376187:V760I;ENSP00000411278:V782I	ENSP00000321087:V742I	V	-	1	0	DLG1	198276573	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.844000	0.48246	2.497000	0.84241	0.467000	0.42956	GTT		0.373	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087	
HS3ST1	9957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	4	11401504	11401504	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:11401504G>A	ENST00000002596.5	-	2	1300	c.126C>T	c.(124-126)cgC>cgT	p.R42R		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	42					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CCACGCCATCGCGGACGTCAT	0.692																																						.											0													23.0	22.0	22.0					4																	11401504		2200	4294	6494	SO:0001819	synonymous_variant	9957			AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.126C>T	4.37:g.11401504G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B3KUA6|Q6PEY8	Silent	SNP	ENST00000002596.5	37	CCDS3408.1																																																																																				0.692	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114	
BOD1L1	259282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	4	13592029	13592029	+	Silent	SNP	G	G	A	rs555836394		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:13592029G>A	ENST00000040738.5	-	14	8325	c.8190C>T	c.(8188-8190)agC>agT	p.S2730S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2730						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S2730S(1)									TATAAGATTCGCTATGAATTT	0.274													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14939	0.0		0.0	False		,,,				2504	0.0					.											1	Substitution - coding silent(1)	large_intestine(1)											22.0	24.0	24.0					4																	13592029		2182	4267	6449	SO:0001819	synonymous_variant	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.8190C>T	4.37:g.13592029G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	CCDS3411.2																																																																																				0.274	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894	
SYNPO2	171024	hgsc.bcm.edu;ucsc.edu	37	4	119951253	119951253	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:119951253C>T	ENST00000429713.2	+	4	1505	c.1323C>T	c.(1321-1323)agC>agT	p.S441S	SYNPO2_ENST00000307142.4_Silent_p.S441S|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Silent_p.S441S	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	441						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTGGTGCAAGCGAATCAGAGG	0.483																																						.											0													194.0	187.0	189.0					4																	119951253		2203	4300	6503	SO:0001819	synonymous_variant	171024			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.1323C>T	4.37:g.119951253C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Silent	SNP	ENST00000429713.2	37	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	C	1.222	-0.626610	0.03610	.	.	ENSG00000172403	ENST00000504178	.	.	.	5.69	-1.15	0.09709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.3512	12.9267	0.58264	0.0:0.3209:0.0:0.6791	.	.	.	.	X	393	.	.	R	+	1	2	SYNPO2	120170701	0.011000	0.17503	0.197000	0.23402	0.042000	0.13812	-0.893000	0.04127	-0.674000	0.05253	-0.244000	0.11960	CGA		0.483	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1		
UCP1	7350	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	4	141481158	141481158	+	Silent	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:141481158T>C	ENST00000262999.3	-	6	891	c.816A>G	c.(814-816)gtA>gtG	p.V272V		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	272					brown fat cell differentiation (GO:0050873)|cellular metabolic process (GO:0044237)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					AGAAGGAAGGTACCAACCTAG	0.413																																						.											0													161.0	125.0	137.0					4																	141481158		2203	4300	6503	SO:0001819	synonymous_variant	7350			X51955	CCDS3753.1	4q28-q31	2013-05-22			ENSG00000109424	ENSG00000109424		"""Solute carriers"""	12517	protein-coding gene	gene with protein product		113730		UCP		2380264	Standard	NM_021833		Approved	SLC25A7	uc011chj.2	P25874	OTTHUMG00000133415	ENST00000262999.3:c.816A>G	4.37:g.141481158T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q13218|Q4KMZ3|Q68G66	Silent	SNP	ENST00000262999.3	37	CCDS3753.1																																																																																				0.413	UCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257273.1		
DCHS2	54798	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	4	155254288	155254288	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:155254288G>A	ENST00000357232.4	-	9	1574	c.1575C>T	c.(1573-1575)ggC>ggT	p.G525G	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Silent_p.G1024G	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	525	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGCAAAGACGCCTGGCTGCG	0.682																																						.											0													28.0	31.0	30.0					4																	155254288		2203	4300	6503	SO:0001819	synonymous_variant	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1575C>T	4.37:g.155254288G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	CCDS3785.1																																																																																				0.682	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
FGB	2244	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	4	155487081	155487081	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:155487081C>T	ENST00000302068.4	+	2	299	c.236C>T	c.(235-237)gCt>gTt	p.A79V	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	79			Missing (in New York-1). {ECO:0000269|PubMed:3156856}.		blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GCCAAAGCAGCTGCCACTCAA	0.577																																					NSCLC(106;1133 1613 21870 46110 52656)	.											0													37.0	39.0	38.0					4																	155487081		2198	4292	6490	SO:0001583	missense	2244				CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.236C>T	4.37:g.155487081C>T	ENSP00000306099:p.Ala79Val	Somatic		WXS	Illumina HiSeq	Phase_I	A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	C	3.374	-0.127748	0.06753	.	.	ENSG00000171564	ENST00000302068;ENST00000537843	T	0.60171	0.21	5.21	-3.56	0.04626	.	1.841320	0.02642	N	0.105473	T	0.36963	0.0986	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08806	-1.0704	10	0.23891	T	0.37	.	4.9716	0.14119	0.396:0.2565:0.0:0.3475	.	79	P02675	FIBB_HUMAN	V	79;62	ENSP00000306099:A79V	ENSP00000306099:A79V	A	+	2	0	FGB	155706531	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-2.289000	0.01149	-1.135000	0.02895	-0.230000	0.12252	GCT		0.577	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141	
HMGB2	3148	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	4	174254650	174254650	+	Splice_Site	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:174254650C>T	ENST00000296503.5	-	2	1024		c.e2+1		HMGB2_ENST00000446922.2_Splice_Site|HMGB2_ENST00000438704.2_Splice_Site			P26583	HMGB2_HUMAN	high mobility group box 2						apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TCCTGCCTCACCTTCCATCTC	0.552																																						.											0													95.0	96.0	95.0					4																	174254650		2203	4300	6503	SO:0001630	splice_region_variant	3148				CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.150+1G>A	4.37:g.174254650C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2R4K8|D3DP37|Q5U072	Splice_Site	SNP	ENST00000296503.5	37	CCDS3816.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027733	0.54790	.	.	ENSG00000164104	ENST00000296503;ENST00000446922;ENST00000438704;ENST00000506267	.	.	.	4.25	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.232	0.82352	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HMGB2	174491225	1.000000	0.71417	1.000000	0.80357	0.372000	0.29890	7.456000	0.80751	1.907000	0.55213	0.313000	0.20887	.		0.552	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688	Intron
SLC26A1	10861	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	4	983647	983647	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:983647C>T	ENST00000361661.2	-	4	1457	c.1080G>A	c.(1078-1080)gcG>gcA	p.A360A	SLC26A1_ENST00000513138.1_5'Flank|IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398516.2_Silent_p.A360A|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398520.2_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	360					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGAACATCTCCGCCAGCGAGA	0.662																																						.											0													14.0	12.0	13.0					4																	983647		2149	4239	6388	SO:0001819	synonymous_variant	10861			AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"""Solute carriers"""	10993	protein-coding gene	gene with protein product		610130	"""solute carrier family 26 (sulfate transporter), member 1"""				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.1080G>A	4.37:g.983647C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K9N2|Q7Z5R3|Q96BK0	Silent	SNP	ENST00000361661.2	37	CCDS33934.1																																																																																				0.662	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358783.1	NM_022042, NM_134425	
NOP14	8602	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	4	2950032	2950032	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:2950032G>A	ENST00000314262.6	-	9	1434	c.1386C>T	c.(1384-1386)ctC>ctT	p.L462L	NOP14-AS1_ENST00000503709.1_RNA|NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000398071.4_Silent_p.L462L|NOP14_ENST00000502735.1_Silent_p.L462L|NOP14_ENST00000416614.2_Silent_p.L462L|NOP14-AS1_ENST00000505731.1_RNA	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	462					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TTCCTTCTGCGAGACTCGGGT	0.473																																						.											0													258.0	204.0	222.0					4																	2950032		2203	4300	6503	SO:0001819	synonymous_variant	8602			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1386C>T	4.37:g.2950032G>A		Somatic		WXS	Illumina HiSeq	Phase_I	D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Silent	SNP	ENST00000314262.6	37	CCDS33945.1																																																																																				0.473	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703	
HGFAC	3083	hgsc.bcm.edu;mdanderson.org	37	4	3446155	3446155	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:3446155G>A	ENST00000382774.3	+	6	831	c.716G>A	c.(715-717)gGc>gAc	p.G239D	HGFAC_ENST00000511533.1_Missense_Mutation_p.G239D	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	239	Fibronectin type-I. {ECO:0000255|PROSITE- ProRule:PRU00478}.				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)		TGGTGCGAAGGCACCCGACAT	0.701																																						.											0													10.0	12.0	11.0					4																	3446155		2169	4276	6445	SO:0001583	missense	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.716G>A	4.37:g.3446155G>A	ENSP00000372224:p.Gly239Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	ENST00000382774.3	37	CCDS3369.1	.	.	.	.	.	.	.	.	.	.	G	0.101	-1.152830	0.01700	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	D;D	0.88201	-2.35;-2.32	3.74	-2.65	0.06095	Fibronectin, type I (2);	0.603497	0.17051	N	0.188911	T	0.73418	0.3584	N	0.22421	0.69	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.002	T	0.58014	-0.7711	10	0.12103	T	0.63	.	4.4014	0.11388	0.6291:0.1705:0.2004:0.0	.	239;239	D6RAR4;Q04756	.;HGFA_HUMAN	D	239	ENSP00000372224:G239D;ENSP00000421801:G239D	ENSP00000372224:G239D	G	+	2	0	HGFAC	3415953	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.212000	0.09319	-0.124000	0.11724	0.462000	0.41574	GGC		0.701	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3		
CPZ	8532	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	8607769	8607769	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:8607769C>T	ENST00000360986.4	+	5	937	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000382480.2_Missense_Mutation_p.R118W|CPZ_ENST00000315782.6_Missense_Mutation_p.R244W	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	255					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGTGGCGGGCCGGGAGATGCT	0.602																																						.											0													132.0	107.0	115.0					4																	8607769		2203	4300	6503	SO:0001583	missense	8532			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.763C>T	4.37:g.8607769C>T	ENSP00000354255:p.Arg255Trp	Somatic		WXS	Illumina HiSeq	Phase_I	O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	c	17.35	3.366907	0.61513	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.12465	2.68;2.68;2.68	3.41	1.33	0.21861	Peptidase M14, carboxypeptidase A (1);	0.260464	0.30201	U	0.010174	T	0.45397	0.1340	H	0.95043	3.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.57353	-0.7826	10	0.87932	D	0	-31.5712	10.5322	0.44983	0.4571:0.5429:0.0:0.0	.	244;255	Q66K79-2;Q66K79	.;CBPZ_HUMAN	W	255;118;244	ENSP00000354255:R255W;ENSP00000371920:R118W;ENSP00000315074:R244W	ENSP00000315074:R244W	R	+	1	2	CPZ	8658669	0.870000	0.30015	0.889000	0.34880	0.636000	0.38137	1.403000	0.34612	0.631000	0.30412	0.461000	0.40582	CGG		0.602	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652	
KIAA1211	57482	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	4	57182448	57182448	+	Missense_Mutation	SNP	G	G	A	rs200653846	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:57182448G>A	ENST00000504228.1	+	6	2885	c.2780G>A	c.(2779-2781)cGc>cAc	p.R927H	KIAA1211_ENST00000264229.6_Missense_Mutation_p.R927H|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R920H			Q6ZU35	K1211_HUMAN	KIAA1211	927										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TCCAGCAGCCGCTCTGTTCCT	0.647													G|||	4	0.000798722	0.0	0.0014	5008	,	,		15311	0.0		0.003	False		,,,				2504	0.0					.											0								G	HIS/ARG	6,4112		0,6,2053	26.0	36.0	33.0		2780	-7.1	0.0	4		33	40,8350		1,38,4156	yes	missense	KIAA1211	NM_020722.1	29	1,44,6209	AA,AG,GG		0.4768,0.1457,0.3678	benign	927/1234	57182448	46,12462	2059	4195	6254	SO:0001583	missense	57482			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2780G>A	4.37:g.57182448G>A	ENSP00000423366:p.Arg927His	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	CCDS43230.1	11	0.005036630036630037	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	8	0.010554089709762533	G	5.871	0.344809	0.11126	0.001457	0.004768	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.11604	2.77;2.77;2.76	3.53	-7.05	0.01573	.	.	.	.	.	T	0.01800	0.0057	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.41770	-0.9490	9	0.15066	T	0.55	-2.4439	0.2445	0.00197	0.3509:0.2295:0.1952:0.2244	.	920;920;927	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	H	927;927;920;837	ENSP00000264229:R927H;ENSP00000423366:R927H;ENSP00000444006:R920H	ENSP00000264229:R927H	R	+	2	0	KIAA1211	56877205	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.670000	0.05256	-1.491000	0.01840	-0.502000	0.04539	CGC		0.647	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722	
KIAA1211	57482	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	57189672	57189672	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:57189672C>T	ENST00000504228.1	+	7	3422	c.3317C>T	c.(3316-3318)aCg>aTg	p.T1106M	KIAA1211_ENST00000264229.6_Missense_Mutation_p.T1106M|KIAA1211_ENST00000541073.1_Missense_Mutation_p.T1099M			Q6ZU35	K1211_HUMAN	KIAA1211	1106										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CAGCAGGCGACGCGGGAGGAG	0.507																																						.											0													69.0	82.0	78.0					4																	57189672		1960	4139	6099	SO:0001583	missense	57482			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3317C>T	4.37:g.57189672C>T	ENSP00000423366:p.Thr1106Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125700	0.37533	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	T;T;T	0.13538	2.59;2.59;2.58	5.5	5.5	0.81552	.	.	.	.	.	T	0.38639	0.1048	M	0.62723	1.935	0.22562	N	0.998984	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.13255	-1.0516	9	0.87932	D	0	-3.1528	19.4113	0.94673	0.0:1.0:0.0:0.0	.	1099;1106	F5H1N7;Q6ZU35	.;K1211_HUMAN	M	1106;1106;1099	ENSP00000264229:T1106M;ENSP00000423366:T1106M;ENSP00000444006:T1099M	ENSP00000264229:T1106M	T	+	2	0	KIAA1211	56884429	0.946000	0.32159	0.073000	0.20177	0.106000	0.19336	2.186000	0.42593	2.579000	0.87056	0.563000	0.77884	ACG		0.507	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722	
FRAS1	80144	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	4	79236854	79236854	+	Silent	SNP	C	C	T	rs557214616		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:79236854C>T	ENST00000325942.6	+	16	2225	c.1785C>T	c.(1783-1785)ggC>ggT	p.G595G	FRAS1_ENST00000264899.6_Silent_p.G595G|FRAS1_ENST00000264895.6_Silent_p.G595G	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	595					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AATGCCCTGGCGGGTACTATG	0.483																																						.											0													109.0	106.0	107.0					4																	79236854		1986	4165	6151	SO:0001819	synonymous_variant	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1785C>T	4.37:g.79236854C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.016|0.016	-1.531790|-1.531790	0.00951|0.00951	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000502446|ENST00000508900	.|.	.|.	.|.	5.74|5.74	-5.79|-5.79	0.02354|0.02354	.|.	.|.	.|.	.|.	.|.	T|T	0.42653|0.42653	0.1212|0.1212	.|.	.|.	.|.	0.33376|0.33376	D|D	0.57422|0.57422	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.53078|0.53078	-0.8489|-0.8489	4|4	.|.	.|.	.|.	.|.	9.0288|9.0288	0.36247|0.36247	0.0886:0.2912:0.0:0.6202|0.0886:0.2912:0.0:0.6202	.|.	.|.	.|.	.|.	V|W	524|438	.|.	.|.	A|R	+|+	2|1	0|2	FRAS1|FRAS1	79455878|79455878	0.001000|0.001000	0.12720|0.12720	0.007000|0.007000	0.13788|0.13788	0.001000|0.001000	0.01503|0.01503	-0.538000|-0.538000	0.06120|0.06120	-0.754000|-0.754000	0.04715|0.04715	-2.655000|-2.655000	0.00148|0.00148	GCG|CGG		0.483	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		
RASGEF1B	153020	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	4	82366931	82366931	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:82366931C>T	ENST00000264400.2	-	7	942	c.791G>A	c.(790-792)cGc>cAc	p.R264H	RASGEF1B_ENST00000509081.1_Missense_Mutation_p.R263H|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.R222H	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	264	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						GTAGCTGAGGCGATTAAACCA	0.353																																						.											0													95.0	92.0	93.0					4																	82366931		2203	4300	6503	SO:0001583	missense	153020			AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.791G>A	4.37:g.82366931C>T	ENSP00000264400:p.Arg264His	Somatic		WXS	Illumina HiSeq	Phase_I	Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622406	0.87460	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000504863	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.44	4.6	0.57074	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.34135	0.0887	L	0.41492	1.28	0.80722	D	1	P;P;P	0.51351	0.944;0.858;0.884	P;P;P	0.48627	0.567;0.448;0.584	T	0.14811	-1.0459	10	0.66056	D	0.02	.	14.0876	0.64968	0.0:0.9274:0.0:0.0726	.	222;263;264	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	H	263;264;222;109	ENSP00000425393:R263H;ENSP00000264400:R264H;ENSP00000338437:R222H;ENSP00000426929:R109H	ENSP00000264400:R264H	R	-	2	0	RASGEF1B	82585955	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.320000	0.79064	1.536000	0.49237	0.655000	0.94253	CGC		0.353	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545	
SCD5	79966	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	83557759	83557759	+	Missense_Mutation	SNP	C	C	T	rs371261082		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:83557759C>T	ENST00000319540.4	-	4	1106	c.787G>A	c.(787-789)Gct>Act	p.A263T		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	263					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				GCACCCAGAGCGACGAGTGGG	0.552																																						.											0								C	THR/ALA	0,4406		0,0,2203	89.0	80.0	83.0		787	0.7	0.1	4		83	1,8599	1.2+/-3.3	0,1,4299	no	missense	SCD5	NM_001037582.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	263/331	83557759	1,13005	2203	4300	6503	SO:0001583	missense	79966			AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"""Fatty acid desaturases"""	21088	protein-coding gene	gene with protein product		608370	"""stearoyl-CoA desaturase 4"""	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.787G>A	4.37:g.83557759C>T	ENSP00000316329:p.Ala263Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Missense_Mutation	SNP	ENST00000319540.4	37	CCDS34024.1	.	.	.	.	.	.	.	.	.	.	C	3.842	-0.033678	0.07543	0.0	1.16E-4	ENSG00000145284	ENST00000319540	T	0.15718	2.4	5.08	0.695	0.18070	Fatty acid desaturase, type 1 (1);	0.251785	0.47455	N	0.000229	T	0.14527	0.0351	L	0.54323	1.7	0.80722	D	1	B	0.12630	0.006	B	0.15052	0.012	T	0.08351	-1.0726	10	0.31617	T	0.26	-3.3454	8.4765	0.33016	0.0:0.3574:0.0:0.6426	.	263	Q86SK9	SCD5_HUMAN	T	263	ENSP00000316329:A263T	ENSP00000316329:A263T	A	-	1	0	SCD5	83776783	0.987000	0.35691	0.102000	0.21198	0.034000	0.12701	0.707000	0.25704	0.056000	0.16144	-0.982000	0.02568	GCT		0.552	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1	NM_024906	
SNX25	83891	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	4	186185677	186185677	+	Missense_Mutation	SNP	C	C	T	rs140041413	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:186185677C>T	ENST00000504273.1	+	4	619	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	SNX25_ENST00000264694.8_Missense_Mutation_p.R109W			Q9H3E2	SNX25_HUMAN	sorting nexin 25	109	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AACGTGTTCTCGGGTTCTGGT	0.413																																						.											0								C	TRP/ARG	0,4406		0,0,2203	175.0	162.0	166.0		325	4.2	1.0	4	dbSNP_134	166	3,8591	3.0+/-9.4	0,3,4294	no	missense	SNX25	NM_031953.2	101	0,3,6497	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	109/841	186185677	3,12997	2203	4297	6500	SO:0001583	missense	83891			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.325C>T	4.37:g.186185677C>T	ENSP00000426255:p.Arg109Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169225	0.78339	0.0	3.49E-4	ENSG00000109762	ENST00000504273;ENST00000264694	T;T	0.10763	2.84;2.84	5.04	4.17	0.49024	Phox-associated domain (2);	0.213930	0.38897	N	0.001529	T	0.17577	0.0422	L	0.36672	1.1	0.35902	D	0.830485	D	0.65815	0.995	P	0.54210	0.745	T	0.14227	-1.0480	10	0.87932	D	0	-4.6564	14.7072	0.69200	0.1461:0.8539:0.0:0.0	.	109	Q9H3E2	SNX25_HUMAN	W	109	ENSP00000426255:R109W;ENSP00000264694:R109W	ENSP00000264694:R109W	R	+	1	2	SNX25	186422671	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	3.564000	0.53791	1.306000	0.44926	0.491000	0.48974	CGG		0.413	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953	
CCDC112	153733	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	114607065	114607065	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:114607065G>A	ENST00000512261.1	-	8	1344	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	CCDC112_ENST00000395557.4_Missense_Mutation_p.R310C|CCDC112_ENST00000506442.1_Missense_Mutation_p.R310C|CCDC112_ENST00000379611.5_Missense_Mutation_p.R393C			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	310										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TTAAACTGGCGCTGGCGTTCT	0.358																																						.											0													136.0	144.0	142.0					5																	114607065		2202	4300	6502	SO:0001583	missense	153733			BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.928C>T	5.37:g.114607065G>A	ENSP00000423712:p.Arg310Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q6A334	Missense_Mutation	SNP	ENST00000512261.1	37	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255077	0.80135	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.25085	1.89;1.82;1.82;1.82	6.17	5.29	0.74685	.	0.211814	0.49305	D	0.000146	T	0.42921	0.1224	L	0.54323	1.7	0.47037	D	0.99929	D;D;D	0.76494	0.999;0.999;0.992	P;P;P	0.58130	0.833;0.833;0.752	T	0.39742	-0.9599	10	0.87932	D	0	-4.2486	16.4344	0.83871	0.0:0.0:0.8674:0.1326	.	310;393;310	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	C	393;310;310;310	ENSP00000368931:R393C;ENSP00000423712:R310C;ENSP00000424876:R310C;ENSP00000378925:R310C	ENSP00000368931:R393C	R	-	1	0	CCDC112	114634964	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	3.114000	0.50383	1.584000	0.49913	0.655000	0.94253	CGC		0.358	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549	
FTMT	94033	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	5	121188112	121188112	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:121188112G>A	ENST00000321339.1	+	1	463	c.454G>A	c.(454-456)Gac>Aac	p.D152N		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	152	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GGAACAGGACGACTGGGAAAG	0.587																																						.											0													90.0	88.0	89.0					5																	121188112		2203	4300	6503	SO:0001583	missense	94033			BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.454G>A	5.37:g.121188112G>A	ENSP00000313691:p.Asp152Asn	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000321339.1	37	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.793247	0.31685	.	.	ENSG00000181867	ENST00000321339	T	0.68181	-0.31	3.6	-0.168	0.13343	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.209784	0.38837	N	0.001553	T	0.59473	0.2196	M	0.70275	2.135	0.25718	N	0.985403	B	0.14805	0.011	B	0.18263	0.021	T	0.54430	-0.8295	10	0.52906	T	0.07	.	7.1071	0.25370	0.5427:0.0:0.4573:0.0	.	152	Q8N4E7	FTMT_HUMAN	N	152	ENSP00000313691:D152N	ENSP00000313691:D152N	D	+	1	0	FTMT	121216011	1.000000	0.71417	0.260000	0.24451	0.985000	0.73830	2.184000	0.42575	-0.062000	0.13088	0.655000	0.94253	GAC		0.587	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478	
SIL1	64374	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	138287496	138287496	+	Missense_Mutation	SNP	G	G	A	rs201546394	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:138287496G>A	ENST00000394817.2	-	8	984	c.845C>T	c.(844-846)cCg>cTg	p.P282L	SIL1_ENST00000265195.5_Missense_Mutation_p.P282L|SIL1_ENST00000509534.1_Missense_Mutation_p.P289L|SIL1_ENST00000515008.1_5'UTR	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	282					intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGCAGTGAGCGGCTGCTCCGT	0.617									Marinesco-Sjgren syndrome				G|||	4	0.000798722	0.0	0.0	5008	,	,		19521	0.004		0.0	False		,,,				2504	0.0					.											0													132.0	113.0	119.0					5																	138287496		2203	4300	6503	SO:0001583	missense	64374	Familial Cancer Database	Marinesco-Sjogren syndrome	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"""Marinesco-Sjogren syndrome"", ""SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"""	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.845C>T	5.37:g.138287496G>A	ENSP00000378294:p.Pro282Leu	Somatic		WXS	Illumina HiSeq	Phase_I	D3DQC2|Q8N2L3	Missense_Mutation	SNP	ENST00000394817.2	37	CCDS4209.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.21	3.332730	0.60853	.	.	ENSG00000120725	ENST00000394817;ENST00000265195;ENST00000509534	T;T;T	0.51574	0.7;0.7;0.7	4.75	4.75	0.60458	Armadillo-like helical (1);Armadillo-type fold (1);	0.182869	0.48767	D	0.000174	T	0.55577	0.1929	L	0.56769	1.78	0.80722	D	1	D;D	0.67145	0.996;0.991	P;P	0.53401	0.725;0.676	T	0.56050	-0.8043	10	0.42905	T	0.14	-6.8693	14.6129	0.68529	0.0:0.0:1.0:0.0	.	289;282	D6REA1;Q9H173	.;SIL1_HUMAN	L	282;282;289	ENSP00000378294:P282L;ENSP00000265195:P282L;ENSP00000426858:P289L	ENSP00000265195:P282L	P	-	2	0	SIL1	138315395	1.000000	0.71417	0.990000	0.47175	0.228000	0.25075	3.288000	0.51739	2.471000	0.83476	0.655000	0.94253	CCG		0.617	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251319.1	NM_022464	
PCDHGA4	56111	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	140735119	140735119	+	Missense_Mutation	SNP	C	C	T	rs182004159	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140735119C>T	ENST00000571252.1	+	1	352	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	118	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGATTTTGCGGGTAGAGGT	0.458																																						.											0													52.0	55.0	54.0					5																	140735119		1938	4172	6110	SO:0001583	missense	56111			AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.352C>T	5.37:g.140735119C>T	ENSP00000458570:p.Arg118Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	CCDS58979.1																																																																																				0.458	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917	
PCDHGB3	56102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	5	140779700	140779700	+	Intron	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140779700C>T	ENST00000576222.1	+	1	2546				PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGTGCTGCCGGATATCACT	0.622																																						.											0													146.0	157.0	154.0					5																	140779700		2180	4263	6443	SO:0001627	intron_variant	56101			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+27324C>T	5.37:g.140779700C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.622	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
PCDH1	5097	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	141233894	141233894	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:141233894G>A	ENST00000287008.3	-	5	3574	c.3427C>T	c.(3427-3429)Cgc>Tgc	p.R1143C	PCDH1_ENST00000503492.1_3'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TTGGTCCGGCGGCTGGGAGAT	0.657																																					Ovarian(132;1609 1739 4190 14731 45037)	.											0													26.0	24.0	24.0					5																	141233894		2196	4287	6483	SO:0001583	missense	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000287008.3:c.3427C>T	5.37:g.141233894G>A	ENSP00000287008:p.Arg1143Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IUP2	Missense_Mutation	SNP	ENST00000287008.3	37	CCDS4267.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433086	0.62844	.	.	ENSG00000156453	ENST00000287008	T	0.54675	0.56	4.27	4.27	0.50696	.	0.000000	0.41500	U	0.000867	T	0.67924	0.2945	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.72141	-0.4380	10	0.87932	D	0	.	14.5302	0.67920	0.0:0.0:1.0:0.0	.	1143	Q08174-2	.	C	1143	ENSP00000287008:R1143C	ENSP00000287008:R1143C	R	-	1	0	PCDH1	141214078	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.111000	0.71541	2.079000	0.62486	0.313000	0.20887	CGC		0.657	PCDH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320587.2	NM_032420	
NR3C1	2908	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	5	142661564	142661564	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:142661564C>T	ENST00000343796.2	-	9	3217	c.2224G>A	c.(2224-2226)Gat>Aat	p.D742N	NR3C1_ENST00000424646.2_Missense_Mutation_p.D716N|NR3C1_ENST00000231509.3_Missense_Mutation_p.D743N|NR3C1_ENST00000415690.2_Intron|NR3C1_ENST00000416954.2_Missense_Mutation_p.D345N|NR3C1_ENST00000394464.2_Missense_Mutation_p.D742N|NR3C1_ENST00000503201.1_Missense_Mutation_p.D742N|NR3C1_ENST00000394466.2_Missense_Mutation_p.D743N|NR3C1_ENST00000504572.1_Missense_Mutation_p.D743N	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	742	Interaction with CLOCK.|Steroid-binding.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	ATGGTCTTATCCAAAAATGTT	0.358																																						.											0													113.0	114.0	114.0					5																	142661564		2203	4300	6503	SO:0001583	missense	2908			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.2224G>A	5.37:g.142661564C>T	ENSP00000343205:p.Asp742Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	37	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	C	7.618	0.676170	0.14841	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000416954;ENST00000503201	D;D;D;D;D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62;-3.62;-3.62;-3.62;-3.62	5.93	5.07	0.68467	Nuclear hormone receptor, ligand-binding (2);	0.136660	0.64402	D	0.000003	D	0.92057	0.7483	N	0.08118	0	0.48452	D	0.999652	B;D	0.89917	0.302;1.0	B;D	0.87578	0.101;0.998	D	0.88085	0.2809	10	0.02654	T	1	.	15.2886	0.73849	0.0:0.9331:0.0:0.0669	.	742;743	P04150;E5KQF6	GCR_HUMAN;.	N	742;742;558;716;743;743;743;345;742	ENSP00000377977:D742N;ENSP00000343205:D742N;ENSP00000405282:D716N;ENSP00000422518:D743N;ENSP00000377979:D743N;ENSP00000231509:D743N;ENSP00000404218:D345N;ENSP00000427672:D742N	ENSP00000231509:D743N	D	-	1	0	NR3C1	142641757	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.991000	0.56973	1.528000	0.49103	0.655000	0.94253	GAT		0.358	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1		
HMGXB3	22993	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	149404017	149404017	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:149404017G>A	ENST00000502717.1	+	7	1698	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K	HMGXB3_ENST00000503427.1_Intron	NM_014983.2	NP_055798	Q12766	HMGX3_HUMAN	HMG box domain containing 3	658					phosphorylation (GO:0016310)	nucleus (GO:0005634)	DNA binding (GO:0003677)|kinase activity (GO:0016301)			central_nervous_system(1)|endometrium(3)|kidney(3)|skin(2)	9						AGTAGGTGAGGAGAGTGAGTG	0.502																																						.											0													84.0	87.0	86.0					5																	149404017		692	1591	2283	SO:0001583	missense	22993			D83778	CCDS54935.1	5q33.1	2011-07-01		2009-01-05	ENSG00000113716	ENSG00000113716		"""High mobility group / Non-canonical"""	28982	protein-coding gene	gene with protein product				HMGX3		8724849	Standard	NM_014983		Approved	SMF, KIAA0194	uc003lrk.4	Q12766	OTTHUMG00000163493	ENST00000502717.1:c.1234G>A	5.37:g.149404017G>A	ENSP00000421917:p.Glu412Lys	Somatic		WXS	Illumina HiSeq	Phase_I	G5E9Y4|Q86UG3|Q9UMF4	Missense_Mutation	SNP	ENST00000502717.1	37	CCDS54935.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820327	0.71028	.	.	ENSG00000113716	ENST00000502717	.	.	.	5.47	5.47	0.80525	.	0.433546	0.25068	N	0.033392	T	0.56262	0.1973	L	0.44542	1.39	0.40782	D	0.983184	B	0.30406	0.278	B	0.27887	0.084	T	0.53337	-0.8453	8	.	.	.	-4.5851	19.3674	0.94469	0.0:0.0:1.0:0.0	.	658	Q12766	HMGX3_HUMAN	K	412	.	.	E	+	1	0	HMGXB3	149384210	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	4.666000	0.61554	2.567000	0.86603	0.650000	0.86243	GAG		0.502	HMGXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373771.1	XM_001717202	
ATP10B	23120	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	160047389	160047389	+	Missense_Mutation	SNP	G	G	A	rs375049408		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:160047389G>A	ENST00000327245.5	-	15	3227	c.2381C>T	c.(2380-2382)tCg>tTg	p.S794L	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	794					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATGATGACCGAGTCAGCACC	0.537																																						.											0								G	LEU/SER	0,4102		0,0,2051	59.0	62.0	61.0		2381	4.6	0.8	5		61	1,8387		0,1,4193	no	missense	ATP10B	NM_025153.2	145	0,1,6244	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging	794/1462	160047389	1,12489	2051	4194	6245	SO:0001583	missense	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2381C>T	5.37:g.160047389G>A	ENSP00000313600:p.Ser794Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190491	0.78789	0.0	1.19E-4	ENSG00000118322	ENST00000327245;ENST00000520108	T;T	0.70164	-0.46;-0.46	5.48	4.61	0.57282	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.236620	0.37012	N	0.002294	T	0.74786	0.3762	M	0.92923	3.36	0.45464	D	0.998431	P;P	0.49862	0.774;0.929	B;B	0.41374	0.284;0.355	T	0.82192	-0.0579	9	.	.	.	.	15.5072	0.75750	0.0:0.1472:0.8528:0.0	.	402;794	Q2YDW8;O94823	.;AT10B_HUMAN	L	794;402	ENSP00000313600:S794L;ENSP00000431081:S402L	.	S	-	2	0	ATP10B	159979967	0.950000	0.32346	0.812000	0.32479	0.948000	0.59901	1.469000	0.35343	1.307000	0.44944	0.644000	0.83932	TCG		0.537	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153	
GABRG2	2566	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	161531032	161531032	+	Splice_Site	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:161531032G>A	ENST00000361925.4	+	6	989	c.769G>A	c.(769-771)Gga>Aga	p.G257R	GABRG2_ENST00000393933.4_Splice_Site_p.G162R|GABRG2_ENST00000356592.3_Splice_Site_p.G257R|GABRG2_ENST00000414552.2_Splice_Site_p.G297R			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	257					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|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)	GACAACTTCCGGTAAGATGCA	0.383																																						.											0													69.0	67.0	68.0					5																	161531032		2203	4300	6503	SO:0001630	splice_region_variant	2566				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.769+1G>A	5.37:g.161531032G>A		Somatic		WXS	Illumina HiSeq	Phase_I	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171779	0.78452	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41	5.39	5.39	0.77823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.098346	0.64402	D	0.000001	D	0.91600	0.7346	M	0.89163	3.01	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.995	D	0.92927	0.6360	10	0.87932	D	0	.	18.7444	0.91787	0.0:0.0:1.0:0.0	.	297;257;257	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	R	257;297;257;162;162	ENSP00000349000:G257R;ENSP00000410732:G297R;ENSP00000354651:G257R;ENSP00000377510:G162R;ENSP00000430182:G162R	ENSP00000349000:G257R	G	+	1	0	GABRG2	161463610	1.000000	0.71417	1.000000	0.80357	0.410000	0.31052	9.751000	0.98889	2.533000	0.85409	0.655000	0.94253	GGA		0.383	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1		Missense_Mutation
KCNIP1	30820	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	5	169931585	169931585	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:169931585C>T	ENST00000411494.1	+	1	9	c.9C>T	c.(7-9)gcC>gcT	p.A3A	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000390656.4_Silent_p.A3A|KCNIP1_ENST00000328939.4_Silent_p.A3A|KCNIP1_ENST00000434108.1_Silent_p.A3A|KCNIP1_ENST00000520740.1_5'UTR			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	3					detection of calcium ion (GO:0005513)|positive regulation of action potential (GO:0045760)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|potassium channel complex (GO:0034705)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|voltage-gated ion channel activity (GO:0005244)			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCATGGGGGCCGTCATGGGCA	0.582																																						.											0													86.0	90.0	89.0					5																	169931585		2203	4300	6503	SO:0001819	synonymous_variant	30820			AF199597	CCDS34285.1, CCDS34286.1, CCDS4374.1, CCDS64312.1, CCDS64313.1	5q35	2013-01-10			ENSG00000182132	ENSG00000182132		"""EF-hand domain containing"""	15521	protein-coding gene	gene with protein product		604660				10676964	Standard	NM_001278339		Approved	KCHIP1	uc003map.3	Q9NZI2	OTTHUMG00000130442	ENST00000411494.1:c.9C>T	5.37:g.169931585C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z7B4|Q3YAD0|Q3YAD1|Q3YAD2|Q3YAD3|Q5U822	Silent	SNP	ENST00000411494.1	37	CCDS34286.1																																																																																				0.582	KCNIP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000371760.1		
COL23A1	91522	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	177679589	177679589	+	Missense_Mutation	SNP	C	C	T	rs371777604		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:177679589C>T	ENST00000390654.3	-	17	1327	c.970G>A	c.(970-972)Gga>Aga	p.G324R		NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	324	Collagen-like 3.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCCTGTGGTCCGGGAGGCCCC	0.642																																						.											0								C	ARG/GLY	0,3884		0,0,1942	33.0	42.0	39.0		970	3.7	0.9	5		39	1,8237		0,1,4118	no	missense	COL23A1	NM_173465.3	125	0,1,6060	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	324/541	177679589	1,12121	1942	4119	6061	SO:0001583	missense	91522			AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"""Collagens"""	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.970G>A	5.37:g.177679589C>T	ENSP00000375069:p.Gly324Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IVR4|Q9NT93	Missense_Mutation	SNP	ENST00000390654.3	37	CCDS4436.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.218647	0.39201	0.0	1.21E-4	ENSG00000050767	ENST00000390654	D	0.99353	-5.77	3.73	3.73	0.42828	.	0.000000	0.64402	D	0.000004	D	0.99667	0.9876	H	0.99582	4.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97270	0.9910	10	0.87932	D	0	-9.5659	11.2277	0.48892	0.0:1.0:0.0:0.0	.	324	Q86Y22	CONA1_HUMAN	R	324	ENSP00000375069:G324R	ENSP00000375069:G324R	G	-	1	0	COL23A1	177612195	0.988000	0.35896	0.873000	0.34254	0.785000	0.44390	4.157000	0.58144	2.092000	0.63282	0.563000	0.77884	GGA		0.642	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1	NM_173465	
ZNF879	345462	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	178454554	178454554	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:178454554G>A	ENST00000444149.2	+	3	302	c.114G>A	c.(112-114)ttG>ttA	p.L38L	ZNF879_ENST00000519896.1_Missense_Mutation_p.V50I	NM_001136116.1	NP_001129588.1	B4DU55	ZN879_HUMAN	zinc finger protein 879	38	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|pancreas(1)|stomach(1)	7						AGAGAGCCTTGTACCGGGAGG	0.567																																						.											0													160.0	148.0	152.0					5																	178454554		692	1591	2283	SO:0001819	synonymous_variant	345462			AK300504	CCDS47352.1	5q35.3	2013-01-08			ENSG00000234284	ENSG00000234284		"""Zinc fingers, C2H2-type"", ""-"""	37273	protein-coding gene	gene with protein product							Standard	NM_001136116		Approved	DKFZp686E2433	uc003mjt.4	B4DU55	OTTHUMG00000163596	ENST00000444149.2:c.114G>A	5.37:g.178454554G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000444149.2	37	CCDS47352.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398671	0.42512	.	.	ENSG00000234284	ENST00000519896	.	.	.	3.64	2.76	0.32466	.	.	.	.	.	T	0.43809	0.1264	.	.	.	0.21499	N	0.999662	.	.	.	.	.	.	T	0.34527	-0.9825	5	0.62326	D	0.03	-6.3243	8.6994	0.34316	0.1166:0.0:0.8834:0.0	.	.	.	.	I	50	.	ENSP00000430047:V50I	V	+	1	0	ZNF879	178387160	0.208000	0.23494	0.949000	0.38748	0.709000	0.40893	-0.311000	0.08124	0.847000	0.35167	0.491000	0.48974	GTA		0.567	ZNF879-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374447.1	NM_001136116	
C5orf55	116349	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	5	442635	442635	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:442635C>T	ENST00000408966.2	-	1	623	c.303G>A	c.(301-303)gcG>gcA	p.A101A	EXOC3_ENST00000512944.1_5'Flank	NM_138464.2	NP_612473.1	Q8N2X6	CE055_HUMAN	chromosome 5 open reading frame 55	101						extracellular region (GO:0005576)				large_intestine(1)|lung(2)	3						CCAAGACCTGCGCTGCTGGGC	0.657																																						.											0													50.0	55.0	53.0					5																	442635		1883	4111	5994	SO:0001819	synonymous_variant	116349			BC014011	CCDS43298.1	5p15.33	2012-02-24			ENSG00000221990	ENSG00000221990			25175	protein-coding gene	gene with protein product						12477932	Standard	NM_138464		Approved		uc010ita.3	Q8N2X6	OTTHUMG00000162235	ENST00000408966.2:c.303G>A	5.37:g.442635C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q96CR9	Silent	SNP	ENST00000408966.2	37	CCDS43298.1																																																																																				0.657	C5orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368033.1	NM_138464	
RAI14	26064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	34821933	34821933	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:34821933A>G	ENST00000265109.3	+	14	1378	c.1091A>G	c.(1090-1092)aAg>aGg	p.K364R	RAI14_ENST00000506376.1_Missense_Mutation_p.K356R|RAI14_ENST00000503673.1_Missense_Mutation_p.K364R|RAI14_ENST00000397449.1_Missense_Mutation_p.K357R|RAI14_ENST00000428746.2_Missense_Mutation_p.K364R|RAI14_ENST00000515799.1_Missense_Mutation_p.K367R|RAI14_ENST00000512629.1_Missense_Mutation_p.K335R	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	364						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TTACACAATAAGGAGTTACAA	0.358																																						.											0													85.0	83.0	84.0					5																	34821933		2203	4299	6502	SO:0001583	missense	26064			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.1091A>G	5.37:g.34821933A>G	ENSP00000265109:p.Lys364Arg	Somatic		WXS	Illumina HiSeq	Phase_I	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.351867	0.82132	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.2;1.19	5.81	5.81	0.92471	.	.	.	.	.	T	0.50599	0.1625	L	0.34521	1.04	0.45194	D	0.998203	D;D;D;D	0.89917	0.998;0.997;1.0;0.997	D;D;D;D	0.87578	0.994;0.985;0.998;0.985	T	0.51387	-0.8712	9	0.59425	D	0.04	-25.6914	16.1677	0.81782	1.0:0.0:0.0:0.0	.	356;335;367;364	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	R	364;335;364;364;367;356;357	ENSP00000265109:K364R;ENSP00000422377:K335R;ENSP00000388725:K364R;ENSP00000422942:K364R;ENSP00000427123:K367R;ENSP00000423854:K356R;ENSP00000380591:K357R	ENSP00000265109:K364R	K	+	2	0	RAI14	34857690	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.881000	0.75584	2.218000	0.71995	0.528000	0.53228	AAG		0.358	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577	
NIPBL	25836	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	37036493	37036493	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:37036493G>A	ENST00000282516.8	+	33	6374	c.5875G>A	c.(5875-5877)Gaa>Aaa	p.E1959K	NIPBL_ENST00000448238.2_Missense_Mutation_p.E1959K	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1959					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GTTGAAGTCCGAAGAGGATTC	0.279																																						.											0													17.0	16.0	16.0					5																	37036493		2166	4195	6361	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.5875G>A	5.37:g.37036493G>A	ENSP00000282516:p.Glu1959Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629682	0.67015	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.64260	-0.09;-0.09	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40448	0.1117	N	0.03930	-0.32	0.80722	D	1	B;B	0.27416	0.112;0.178	B;B	0.32211	0.046;0.142	T	0.43702	-0.9375	10	0.02654	T	1	-16.5384	19.5724	0.95427	0.0:0.0:1.0:0.0	.	1959;1959	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	K	1959	ENSP00000282516:E1959K;ENSP00000406266:E1959K	ENSP00000282516:E1959K	E	+	1	0	NIPBL	37072250	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	9.438000	0.97539	2.624000	0.88883	0.650000	0.86243	GAA		0.279	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	
LIFR	3977	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	5	38510729	38510729	+	Silent	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:38510729T>C	ENST00000263409.4	-	7	990	c.828A>G	c.(826-828)aaA>aaG	p.K276K	LIFR_ENST00000453190.2_Silent_p.K276K|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	276					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CTGATAACACTTTTTCTTGAC	0.378			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	.		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													106.0	93.0	97.0					5																	38510729		2203	4300	6503	SO:0001819	synonymous_variant	3977			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.828A>G	5.37:g.38510729T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q6LCD9	Silent	SNP	ENST00000263409.4	37	CCDS3927.1																																																																																				0.378	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310	
PTGER4	5734	hgsc.bcm.edu;mdanderson.org	37	5	40681716	40681716	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:40681716C>T	ENST00000302472.3	+	2	1645	c.621C>T	c.(619-621)tgC>tgT	p.C207C	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	207					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	TGCTTGTGTGCGGCGCGCTGC	0.701																																						.											0													24.0	21.0	22.0					5																	40681716		2202	4295	6497	SO:0001819	synonymous_variant	5734			L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.621C>T	5.37:g.40681716C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q3MJ87	Silent	SNP	ENST00000302472.3	37	CCDS3930.1																																																																																				0.701	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958	
NNT	23530	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	5	43613077	43613077	+	Silent	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:43613077A>G	ENST00000264663.5	+	3	440	c.219A>G	c.(217-219)gcA>gcG	p.A73A	NNT_ENST00000344920.4_Silent_p.A73A|NNT_ENST00000512996.2_5'UTR	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	73					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					AGCGAGTGGCATTGTCTCCTG	0.423																																						.											0													155.0	158.0	157.0					5																	43613077		2203	4300	6503	SO:0001819	synonymous_variant	23530			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.219A>G	5.37:g.43613077A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q16796|Q2TB60|Q8N3V4	Silent	SNP	ENST00000264663.5	37	CCDS3949.1																																																																																				0.423	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977	
MRPS30	10884	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	44812095	44812095	+	Missense_Mutation	SNP	C	C	T	rs61753790		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:44812095C>T	ENST00000507110.1	+	3	864	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	276					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					ATTATTCAAACGGCAGTATGA	0.323																																						.											0													91.0	90.0	90.0					5																	44812095		2203	4299	6502	SO:0001583	missense	10884			AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"""Mitochondrial ribosomal proteins / small subunits"""	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.826C>T	5.37:g.44812095C>T	ENSP00000424328:p.Arg276Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Missense_Mutation	SNP	ENST00000507110.1	37	CCDS3951.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834500	0.50951	.	.	ENSG00000112996	ENST00000507110	T	0.19250	2.16	5.81	4.93	0.64822	.	0.106321	0.64402	D	0.000009	T	0.45175	0.1329	M	0.77103	2.36	0.47094	D	0.999311	D	0.89917	1.0	D	0.87578	0.998	T	0.37619	-0.9698	10	0.28530	T	0.3	-0.2011	12.5333	0.56128	0.3696:0.6304:0.0:0.0	rs61753790	276	Q9NP92	RT30_HUMAN	W	276	ENSP00000424328:R276W	ENSP00000424328:R276W	R	+	1	2	MRPS30	44847852	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.829000	0.48128	1.432000	0.47375	-0.181000	0.13052	CGG		0.323	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640	
PIK3R1	5295	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	67522808	67522808	+	Missense_Mutation	SNP	C	C	T	rs368742778		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:67522808C>T	ENST00000521381.1	+	2	921	c.305C>T	c.(304-306)tCg>tTg	p.S102L	PIK3R1_ENST00000274335.5_Missense_Mutation_p.S102L|PIK3R1_ENST00000521657.1_Missense_Mutation_p.S102L|PIK3R1_ENST00000396611.1_Missense_Mutation_p.S102L	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	102					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CCAGGTTCTTCGAAAACTGAA	0.433			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												.		Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	1	Whole gene deletion(1)	large_intestine(1)						C	LEU/SER	0,4406		0,0,2203	49.0	59.0	55.0		305	5.8	0.9	5		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	PIK3R1	NM_181523.2	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	102/725	67522808	1,13005	2203	4300	6503	SO:0001583	missense	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.305C>T	5.37:g.67522808C>T	ENSP00000428056:p.Ser102Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475463	0.43942	0.0	1.16E-4	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335	T;T;T;T	0.69685	-0.42;-0.42;-0.3;-0.42	5.77	5.77	0.91146	.	0.462575	0.21847	N	0.068223	T	0.55924	0.1951	L	0.29908	0.895	0.33287	D	0.563063	B	0.13145	0.007	B	0.12837	0.008	T	0.58612	-0.7606	10	0.28530	T	0.3	-7.4193	15.789	0.78338	0.0:0.8646:0.1354:0.0	.	102	P27986	P85A_HUMAN	L	102	ENSP00000428056:S102L;ENSP00000429277:S102L;ENSP00000379855:S102L;ENSP00000274335:S102L	ENSP00000274335:S102L	S	+	2	0	PIK3R1	67558564	0.991000	0.36638	0.916000	0.36221	0.971000	0.66376	3.099000	0.50267	2.884000	0.98904	0.655000	0.94253	TCG		0.433	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
PDE8B	8622	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	5	76645327	76645327	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:76645327C>T	ENST00000264917.5	+	8	1005	c.960C>T	c.(958-960)agC>agT	p.S320S	PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000333194.4_Silent_p.S320S|PDE8B_ENST00000342343.4_Silent_p.S300S|PDE8B_ENST00000340978.3_Intron	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	320	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	TGCCCAAAAGCGATAAGAACC	0.502																																						.											0													133.0	114.0	121.0					5																	76645327		2203	4300	6503	SO:0001819	synonymous_variant	8622			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.960C>T	5.37:g.76645327C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Silent	SNP	ENST00000264917.5	37	CCDS4037.1																																																																																				0.502	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719	
ACOT12	134526	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	80640001	80640001	+	Missense_Mutation	SNP	G	G	A	rs149103852		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:80640001G>A	ENST00000307624.3	-	9	986	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	320					acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		ATTCGCTTGCGTGCAATAGCT	0.358																																						.											0								G	CYS/ARG	0,4406		0,0,2203	68.0	70.0	70.0		958	5.4	1.0	5	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACOT12	NM_130767.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	320/556	80640001	1,13005	2203	4300	6503	SO:0001583	missense	134526			AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.958C>T	5.37:g.80640001G>A	ENSP00000303246:p.Arg320Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543967	0.65198	0.0	1.16E-4	ENSG00000172497	ENST00000307624	T	0.38077	1.16	5.45	5.45	0.79879	.	0.124801	0.51477	D	0.000098	T	0.69178	0.3082	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.76844	-0.2809	10	0.87932	D	0	-15.5955	16.5697	0.84608	0.0:0.0:1.0:0.0	.	320	Q8WYK0	ACO12_HUMAN	C	320	ENSP00000303246:R320C	ENSP00000303246:R320C	R	-	1	0	ACOT12	80675757	1.000000	0.71417	0.998000	0.56505	0.692000	0.40212	3.345000	0.52182	2.725000	0.93324	0.655000	0.94253	CGC		0.358	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767	
TMEM161B	153396	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	87494939	87494939	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:87494939G>A	ENST00000296595.6	-	10	1067	c.943C>T	c.(943-945)Cga>Tga	p.R315*	TMEM161B_ENST00000512429.1_Nonsense_Mutation_p.R304*|TMEM161B_ENST00000515293.1_5'Flank|TMEM161B_ENST00000514135.1_Nonsense_Mutation_p.R315*|TMEM161B_ENST00000506536.1_Nonsense_Mutation_p.R133*|TMEM161B_ENST00000511218.1_Intron	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	315						integral component of membrane (GO:0016021)				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AACCAGAGTCGCAGAGTATCG	0.413																																						.											0													49.0	45.0	46.0					5																	87494939		2203	4299	6502	SO:0001587	stop_gained	153396			BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.943C>T	5.37:g.87494939G>A	ENSP00000296595:p.Arg315*	Somatic		WXS	Illumina HiSeq	Phase_I	Q5CZH7|Q6UWQ6	Nonsense_Mutation	SNP	ENST00000296595.6	37	CCDS4065.1	.	.	.	.	.	.	.	.	.	.	G	39	7.374376	0.98245	.	.	ENSG00000164180	ENST00000514135;ENST00000296595;ENST00000506536;ENST00000512429	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.4847	14.9408	0.70992	0.0:0.0:0.8236:0.1764	.	.	.	.	X	315;315;133;304	.	ENSP00000296595:R315X	R	-	1	2	TMEM161B	87530695	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.499000	0.66937	2.805000	0.96524	0.460000	0.39030	CGA		0.413	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1	NM_153354	
FLT4	2324	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	5	180052908	180052908	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:180052908C>T	ENST00000261937.6	-	10	1460	c.1382G>A	c.(1381-1383)cGg>cAg	p.R461Q	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.R461Q|FLT4_ENST00000393347.3_Missense_Mutation_p.R461Q	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	461	Ig-like C2-type 5.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R461Q(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTCCAGGGCCGCCAGTGCCA	0.667																																					Colon(97;1075 1466 27033 27547 35871)	.											2	Substitution - Missense(2)	lung(2)											38.0	45.0	42.0					5																	180052908		2201	4294	6495	SO:0001583	missense	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1382G>A	5.37:g.180052908C>T	ENSP00000261937:p.Arg461Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192772	0.58017	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	D;D;D	0.93953	-3.32;-3.32;-3.32	4.26	4.26	0.50523	Immunoglobulin subtype (1);Immunoglobulin-like (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor 3 (VEGFR3), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94172	0.8130	L	0.45744	1.44	0.58432	D	0.999996	D;B;B	0.89917	1.0;0.037;0.064	D;B;B	0.72338	0.977;0.02;0.034	D	0.91303	0.5068	9	0.06891	T	0.86	.	17.0681	0.86564	0.0:1.0:0.0:0.0	.	461;461;461	P35916-3;E9PD35;P35916	.;.;VGFR3_HUMAN	Q	461;461;461;271	ENSP00000261937:R461Q;ENSP00000377016:R461Q;ENSP00000426057:R461Q	ENSP00000261937:R461Q	R	-	2	0	FLT4	179985514	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	5.593000	0.67550	2.117000	0.64856	0.561000	0.74099	CGG		0.667	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4		
AIM1	202	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	6	107000090	107000090	+	Splice_Site	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:107000090A>G	ENST00000369066.3	+	13	4734	c.4247A>G	c.(4246-4248)cAg>cGg	p.Q1416R	AIM1_ENST00000487681.1_3'UTR|AIM1_ENST00000535438.1_Splice_Site_p.Q235R	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGACGAAATCAGGTAACttta	0.328																																						.											0													15.0	16.0	16.0					6																	107000090		2186	4259	6445	SO:0001630	splice_region_variant	202			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.4248+1A>G	6.37:g.107000090A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.951320	0.53186	.	.	ENSG00000112297	ENST00000369066;ENST00000457437;ENST00000535438	T;T;T	0.74842	-0.88;-0.88;-0.88	5.53	5.53	0.82687	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.482215	0.19530	N	0.112062	T	0.49064	0.1535	N	0.16790	0.44	0.41292	D	0.986988	B;B	0.22683	0.011;0.073	B;B	0.25987	0.024;0.065	T	0.55573	-0.8120	10	0.62326	D	0.03	.	13.6978	0.62591	1.0:0.0:0.0:0.0	.	235;1416	B4DU04;Q9Y4K1	.;AIM1_HUMAN	R	1416;235;235	ENSP00000358062:Q1416R;ENSP00000391419:Q235R;ENSP00000439183:Q235R	ENSP00000358062:Q1416R	Q	+	2	0	AIM1	107106783	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.853000	0.48317	2.226000	0.72624	0.460000	0.39030	CAG		0.328	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1		Missense_Mutation
MICAL1	64780	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	6	109766433	109766433	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:109766433C>T	ENST00000358807.3	-	22	3159	c.2848G>A	c.(2848-2850)Gtg>Atg	p.V950M	MICAL1_ENST00000358577.3_Missense_Mutation_p.V864M|MICAL1_ENST00000368952.4_Missense_Mutation_p.V969M	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	950					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCCAGCTTCACGCCCTCGGCC	0.572																																						.											0													59.0	58.0	58.0					6																	109766433		2203	4300	6503	SO:0001583	missense	64780			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2848G>A	6.37:g.109766433C>T	ENSP00000351664:p.Val950Met	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	4.389	0.071791	0.08436	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957;ENST00000335266	T;T;T	0.56444	0.46;0.46;0.46	5.4	-3.89	0.04193	Domain of unknown function DUF3585 (1);	0.908073	0.09419	N	0.804763	T	0.16214	0.0390	N	0.20328	0.56	0.09310	N	1	B;B;B	0.19817	0.039;0.014;0.015	B;B;B	0.16289	0.015;0.006;0.015	T	0.33727	-0.9857	10	0.54805	T	0.06	.	11.5325	0.50618	0.0:0.4014:0.0:0.5986	.	969;864;950	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	M	950;969;864;474;206	ENSP00000351664:V950M;ENSP00000357948:V969M;ENSP00000351385:V864M	ENSP00000335372:V206M	V	-	1	0	MICAL1	109873126	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.133000	0.10451	-0.701000	0.05063	-0.793000	0.03317	GTG		0.572	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765	
MICAL1	64780	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	109769510	109769510	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:109769510G>A	ENST00000358807.3	-	13	2062	c.1751C>T	c.(1750-1752)cCg>cTg	p.P584L	MICAL1_ENST00000358577.3_Missense_Mutation_p.P498L|MICAL1_ENST00000368952.4_Missense_Mutation_p.P603L	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	584	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AGACACCACCGGTGTGATGCC	0.607																																						.											0													173.0	161.0	165.0					6																	109769510		2203	4300	6503	SO:0001583	missense	64780			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.1751C>T	6.37:g.109769510G>A	ENSP00000351664:p.Pro584Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872109	0.91587	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957	T;T;T	0.59638	0.25;0.25;0.25	5.38	5.38	0.77491	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.71728	0.3374	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	T	0.75077	-0.3445	10	0.72032	D	0.01	.	16.6283	0.84992	0.0:0.0:1.0:0.0	.	603;498;584	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	L	584;603;498;108	ENSP00000351664:P584L;ENSP00000357948:P603L;ENSP00000351385:P498L	ENSP00000351385:P498L	P	-	2	0	MICAL1	109876203	1.000000	0.71417	0.689000	0.30133	0.870000	0.49936	6.142000	0.71750	2.529000	0.85273	0.561000	0.74099	CCG		0.607	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765	
TBC1D7	51256	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	13321234	13321234	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:13321234C>T	ENST00000379300.3	-	4	530	c.287G>A	c.(286-288)cGc>cAc	p.R96H	TBC1D7_ENST00000343141.4_Missense_Mutation_p.R96H|TBC1D7_ENST00000607658.1_Missense_Mutation_p.R69H|TBC1D7_ENST00000356436.4_Missense_Mutation_p.R96H|TBC1D7_ENST00000379307.2_Missense_Mutation_p.R69H|TBC1D7_ENST00000607532.1_5'UTR	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	96	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			ACTAACAAAGCGAACGACTTT	0.498																																						.											0													293.0	257.0	269.0					6																	13321234		2203	4300	6503	SO:0001583	missense	51256			AF151073	CCDS4523.1, CCDS47376.1, CCDS58995.1	6p23	2013-07-10			ENSG00000145979	ENSG00000145979			21066	protein-coding gene	gene with protein product		612655				11042152, 17646400	Standard	XM_005249163		Approved	dJ257A7.3, FLJ32666	uc003nan.3	Q9P0N9	OTTHUMG00000014272	ENST00000379300.3:c.287G>A	6.37:g.13321234C>T	ENSP00000368602:p.Arg96His	Somatic		WXS	Illumina HiSeq	Phase_I	E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Missense_Mutation	SNP	ENST00000379300.3	37	CCDS4523.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.791100	0.50102	.	.	ENSG00000145979	ENST00000334971;ENST00000421203;ENST00000356436;ENST00000379300;ENST00000379307;ENST00000343141;ENST00000452989;ENST00000450347;ENST00000422136;ENST00000446018;ENST00000420456;ENST00000428109;ENST00000416436;ENST00000379291	T;T;T;T;T;T;T;T;T;T;T;T;T	0.50813	2.22;2.22;2.22;1.24;1.35;1.25;1.25;2.22;1.22;1.2;2.22;2.22;0.73	5.85	4.99	0.66335	Rab-GAP/TBC domain (1);	0.044377	0.85682	D	0.000000	T	0.26122	0.0637	M	0.64567	1.98	0.54753	D	0.999987	P;P;B;B;B	0.38642	0.501;0.641;0.066;0.32;0.092	B;B;B;B;B	0.29942	0.109;0.109;0.008;0.081;0.01	T	0.22941	-1.0202	10	0.56958	D	0.05	-10.901	10.0772	0.42368	0.0:0.8495:0.0:0.1505	.	96;69;69;69;96	Q2TU37;Q5JPB9;Q5SZL5;Q9P0N9-2;Q9P0N9	.;.;.;.;TBCD7_HUMAN	H	37;96;96;96;69;96;69;69;96;69;69;96;96;96	ENSP00000401438:R96H;ENSP00000348813:R96H;ENSP00000368602:R96H;ENSP00000368609:R69H;ENSP00000343100:R96H;ENSP00000414292:R69H;ENSP00000404680:R69H;ENSP00000394425:R96H;ENSP00000417005:R69H;ENSP00000412102:R69H;ENSP00000414101:R96H;ENSP00000401339:R96H;ENSP00000368593:R96H	ENSP00000334212:R37H	R	-	2	0	TBC1D7	13429213	1.000000	0.71417	0.920000	0.36463	0.645000	0.38454	5.699000	0.68310	1.499000	0.48617	0.555000	0.69702	CGC		0.498	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	NM_016495	
NCOA7	135112	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	6	126210643	126210643	+	Silent	SNP	G	G	A	rs375161871		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:126210643G>A	ENST00000368357.3	+	10	1795	c.1443G>A	c.(1441-1443)gcG>gcA	p.A481A	NCOA7_ENST00000392477.2_Silent_p.A481A|NCOA7_ENST00000229634.9_Silent_p.A366A	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	481					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		TGAAGGGGGCGCTAGATTTAG	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		17339	0.0		0.0	False		,,,				2504	0.001					.											0								G	,,,,	1,4397	2.1+/-5.4	0,1,2198	54.0	57.0	56.0		1410,1443,1443,1098,1443	0.4	0.5	6		56	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA7	NM_001122842.2,NM_001199619.1,NM_001199620.1,NM_001199621.1,NM_181782.4	,,,,	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	,,,,	470/932,481/943,481/943,366/828,481/943	126210643	1,12993	2199	4298	6497	SO:0001819	synonymous_variant	135112			AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.1443G>A	6.37:g.126210643G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Silent	SNP	ENST00000368357.3	37	CCDS5132.1																																																																																				0.453	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748	
BCLAF1	9774	hgsc.bcm.edu	37	6	136594328	136594328	+	Intron	DEL	G	G	-			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:136594328delG	ENST00000531224.1	-	7	2105				BCLAF1_ENST00000353331.4_Intron|BCLAF1_ENST00000392348.2_Intron|BCLAF1_ENST00000527759.1_Intron|BCLAF1_ENST00000527536.1_Intron|BCLAF1_ENST00000530767.1_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1						apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTATTGCTCTGTTGATTTAGA	0.383																																					Colon(142;1534 1789 5427 7063 28491)	.											0													136.0	132.0	133.0					6																	136594328		2203	4300	6503	SO:0001627	intron_variant	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1853-3C>-	6.37:g.136594328delG		Somatic		WXS	Illumina HiSeq	Phase_I	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Splice_Site	DEL	ENST00000531224.1	37	CCDS5177.1																																																																																				0.383	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	
KIAA1244	57221	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	138655393	138655393	+	Missense_Mutation	SNP	G	G	A	rs201470794		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:138655393G>A	ENST00000251691.4	+	33	5576	c.5410G>A	c.(5410-5412)Gcc>Acc	p.A1804T		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CGGGGGCGCCGCCAACCTCTA	0.557																																						.											0													25.0	25.0	25.0					6																	138655393		2203	4300	6503	SO:0001583	missense	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.5410G>A	6.37:g.138655393G>A	ENSP00000251691:p.Ala1804Thr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000251691.4	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	32	5.179957	0.94846	.	.	ENSG00000112379	ENST00000251691	T	0.33216	1.42	5.23	5.23	0.72850	.	0.354096	0.32518	N	0.005989	T	0.43678	0.1258	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.25363	-1.0134	10	0.46703	T	0.11	-25.0529	18.8012	0.92018	0.0:0.0:1.0:0.0	.	1804	Q5TH69	BIG3_HUMAN	T	1804	ENSP00000251691:A1804T	ENSP00000251691:A1804T	A	+	1	0	KIAA1244	138697086	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	9.787000	0.99055	2.452000	0.82932	0.411000	0.27672	GCC		0.557	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340	
STXBP5	134957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	147527114	147527114	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:147527114G>A	ENST00000321680.6	+	2	158	c.158G>A	c.(157-159)cGc>cAc	p.R53H	STXBP5-AS1_ENST00000427394.1_RNA|STXBP5_ENST00000367481.3_Missense_Mutation_p.R53H|STXBP5_ENST00000367480.3_Missense_Mutation_p.R53H|STXBP5_ENST00000546097.1_Missense_Mutation_p.R53H|STXBP5_ENST00000179882.6_5'UTR|STXBP5-AS1_ENST00000367477.3_RNA	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	53					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.R53H(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TAGACTGTTCGCCATGGATTT	0.463																																						.											2	Substitution - Missense(2)	endometrium(2)											172.0	154.0	160.0					6																	147527114		2203	4300	6503	SO:0001583	missense	134957			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.158G>A	6.37:g.147527114G>A	ENSP00000321826:p.Arg53His	Somatic		WXS	Illumina HiSeq	Phase_I	Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	G	37	6.027106	0.97216	.	.	ENSG00000164506	ENST00000367481;ENST00000546097;ENST00000321680;ENST00000367480	D;D;D;D	0.95918	-3.85;-3.85;-3.85;-3.85	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.97266	0.9106	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77004	0.989;0.968	D	0.95799	0.8831	10	0.42905	T	0.14	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	53;53	Q5T5C0-2;Q5T5C0	.;STXB5_HUMAN	H	53	ENSP00000356451:R53H;ENSP00000441479:R53H;ENSP00000321826:R53H;ENSP00000356450:R53H	ENSP00000321826:R53H	R	+	2	0	STXBP5	147568807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.238000	0.95380	2.941000	0.99782	0.655000	0.94253	CGC		0.463	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1		
FAM50B	26240	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	3850118	3850118	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:3850118C>T	ENST00000380274.1	+	1	499	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W	FAM50B_ENST00000380272.3_Missense_Mutation_p.R25W			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	25						nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CGAAAGGCAGCGGGAGCAGAT	0.652																																						.											0													47.0	42.0	43.0					6																	3850118		2203	4300	6503	SO:0001583	missense	26240			Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.73C>T	6.37:g.3850118C>T	ENSP00000369627:p.Arg25Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T2L6	Missense_Mutation	SNP	ENST00000380274.1	37	CCDS4487.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804072	0.70682	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.16	-3.77	0.04346	.	0.614436	0.15622	N	0.252852	T	0.45796	0.1360	M	0.64404	1.975	0.32106	N	0.589936	D	0.65815	0.995	P	0.52343	0.696	T	0.62011	-0.6944	9	0.87932	D	0	-14.4722	16.4087	0.83699	0.2079:0.7921:0.0:0.0	.	25	Q9Y247	FA50B_HUMAN	W	25	.	ENSP00000369625:R25W	R	+	1	2	FAM50B	3795117	0.997000	0.39634	0.695000	0.30226	0.935000	0.57460	0.275000	0.18698	-0.356000	0.08187	-0.397000	0.06425	CGG		0.652	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135	
RREB1	6239	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	7231628	7231628	+	Missense_Mutation	SNP	C	C	T	rs376220493		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:7231628C>T	ENST00000349384.6	+	10	3610	c.3296C>T	c.(3295-3297)aCg>aTg	p.T1099M	RREB1_ENST00000334984.6_Missense_Mutation_p.T1099M|RREB1_ENST00000379938.2_Missense_Mutation_p.T1099M|RREB1_ENST00000379933.3_Missense_Mutation_p.T1099M	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1099					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGTAACACCACGGCTTCAGAC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		13398	0.0		0.0	False		,,,				2504	0.001					.											0								C	MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	35.0	40.0	38.0		3296,3296,3296,3296	1.1	0.0	6		38	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	RREB1	NM_001003698.3,NM_001003699.3,NM_001003700.1,NM_001168344.1	81,81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1099/1688,1099/1743,1099/1477,1099/1688	7231628	1,13005	2203	4300	6503	SO:0001583	missense	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3296C>T	6.37:g.7231628C>T	ENSP00000305560:p.Thr1099Met	Somatic		WXS	Illumina HiSeq	Phase_I	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	4.189	0.033643	0.08101	0.0	1.16E-4	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.11063	2.94;2.91;2.94;2.81	5.46	1.07	0.20283	.	2.026260	0.02349	N	0.075710	T	0.03348	0.0097	L	0.40543	1.245	0.09310	N	1	B;B;B	0.30482	0.07;0.185;0.281	B;B;B	0.18871	0.023;0.01;0.023	T	0.41431	-0.9509	10	0.34782	T	0.22	-0.0059	10.8935	0.47008	0.0:0.6928:0.0:0.3072	.	1099;1099;1099	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	M	1099	ENSP00000369265:T1099M;ENSP00000369270:T1099M;ENSP00000305560:T1099M;ENSP00000335574:T1099M	ENSP00000335574:T1099M	T	+	2	0	RREB1	7176627	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.435000	0.21510	0.258000	0.21686	-0.150000	0.13652	ACG		0.627	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1		
RREB1	6239	hgsc.bcm.edu	37	6	7247005	7247005	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:7247005C>T	ENST00000349384.6	+	11	4471	c.4157C>T	c.(4156-4158)gCg>gTg	p.A1386V	RREB1_ENST00000334984.6_Intron|RREB1_ENST00000379938.2_Missense_Mutation_p.A1441V|RREB1_ENST00000379933.3_Missense_Mutation_p.A1386V	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1386					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCCGGGGGCGCGGCCTCGCAG	0.697																																						.											0													8.0	10.0	9.0					6																	7247005		2067	4045	6112	SO:0001583	missense	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.4157C>T	6.37:g.7247005C>T	ENSP00000305560:p.Ala1386Val	Somatic		WXS	Illumina HiSeq	Phase_I	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	8.342	0.828815	0.16749	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384	T;T;T	0.09538	2.99;2.97;2.99	5.69	2.95	0.34219	.	1.656210	0.03303	N	0.189369	T	0.02083	0.0065	N	0.16478	0.41	0.33650	D	0.608334	B;P	0.36378	0.414;0.55	B;B	0.25614	0.028;0.062	T	0.29366	-1.0014	10	0.28530	T	0.3	-0.0137	8.7629	0.34685	0.0:0.548:0.31:0.1419	.	1386;1441	Q92766;Q92766-2	RREB1_HUMAN;.	V	1386;1441;1386	ENSP00000369265:A1386V;ENSP00000369270:A1441V;ENSP00000305560:A1386V	ENSP00000305560:A1386V	A	+	2	0	RREB1	7192004	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.113000	0.15499	0.340000	0.23745	-0.122000	0.15005	GCG		0.697	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1		
DSP	1832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	7580988	7580988	+	Missense_Mutation	SNP	C	C	T	rs375150075		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:7580988C>T	ENST00000379802.3	+	23	4906	c.4565C>T	c.(4564-4566)aCg>aTg	p.T1522M	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1522	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGTAGTGCGACGGAGACAATA	0.473																																						.											0								C	,MET/THR	1,4405	2.1+/-5.4	0,1,2202	119.0	118.0	118.0		,4565	4.1	0.0	6		118	0,8600		0,0,4300	no	intron,missense	DSP	NM_001008844.1,NM_004415.2	,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,probably-damaging	,1522/2872	7580988	1,13005	2203	4300	6503	SO:0001583	missense	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.4565C>T	6.37:g.7580988C>T	ENSP00000369129:p.Thr1522Met	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	0.509	-0.867174	0.02590	2.27E-4	0.0	ENSG00000096696	ENST00000379802	T	0.71579	-0.58	5.85	4.09	0.47781	.	0.376063	0.25711	N	0.028804	T	0.44705	0.1306	L	0.43152	1.355	0.09310	N	0.999991	B	0.31968	0.349	B	0.28916	0.096	T	0.37596	-0.9699	10	0.54805	T	0.06	.	12.5287	0.56102	0.0:0.8653:0.0:0.1347	.	1522	P15924	DESP_HUMAN	M	1522	ENSP00000369129:T1522M	ENSP00000369129:T1522M	T	+	2	0	DSP	7525987	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	1.064000	0.30579	0.828000	0.34709	-0.137000	0.14449	ACG		0.473	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	
HIST1H3C	8352	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	26045706	26045706	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:26045706C>T	ENST00000540144.1	+	1	68	c.68C>T	c.(67-69)aCt>aTt	p.T23I	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	23					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						CAGCTTGCTACTAAAGCAGCC	0.587																																						.											0													38.0	42.0	41.0					6																	26045706		2203	4300	6503	SO:0001583	missense	8352			X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"""Histones / Replication-dependent"""	4768	protein-coding gene	gene with protein product		602812	"""H3 histone family, member C"", ""histone 1, H3c"""	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.68C>T	6.37:g.26045706C>T	ENSP00000439493:p.Thr23Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000540144.1	37	CCDS4576.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.407551	0.25378	.	.	ENSG00000196532	ENST00000540144	T	0.48836	0.8	4.67	4.67	0.58626	.	.	.	.	.	T	0.59770	0.2218	.	.	.	0.43824	D	0.996397	.	.	.	.	.	.	T	0.65249	-0.6214	6	0.87932	D	0	.	17.4292	0.87534	0.0:1.0:0.0:0.0	.	.	.	.	I	23	ENSP00000439493:T23I	ENSP00000439493:T23I	T	+	2	0	HIST1H3C	26153685	1.000000	0.71417	0.998000	0.56505	0.009000	0.06853	7.682000	0.84083	2.529000	0.85273	0.591000	0.81541	ACT		0.587	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040078.1	NM_003531	
HIST1H1T	3010	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	26108074	26108074	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:26108074C>T	ENST00000338379.4	-	1	290	c.248G>A	c.(247-249)cGc>cAc	p.R83H		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	83	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|nucleosome assembly (GO:0006334)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						CAGTTTGATGCGGCTGTTATT	0.502																																						.											0													119.0	118.0	118.0					6																	26108074		2203	4300	6503	SO:0001583	missense	3010			M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"""Histones / Replication-dependent"""	4720	protein-coding gene	gene with protein product		142712	"""H1 histone family, member T (testis-specific)"", ""histone 1, H1t"""	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.248G>A	6.37:g.26108074C>T	ENSP00000341214:p.Arg83His	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ISI1|Q8IUE8	Missense_Mutation	SNP	ENST00000338379.4	37	CCDS34349.1	.	.	.	.	.	.	.	.	.	.	.	18.33	3.600291	0.66332	.	.	ENSG00000187475	ENST00000338379	T	0.10382	2.88	5.53	4.67	0.58626	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	L	0.55481	1.735	0.49051	D	0.999744	D	0.60160	0.987	D	0.65140	0.932	T	0.00773	-1.1572	10	0.59425	D	0.04	-14.1027	13.622	0.62143	0.0:0.9264:0.0:0.0736	.	83	P22492	H1T_HUMAN	H	83	ENSP00000341214:R83H	ENSP00000341214:R83H	R	-	2	0	HIST1H1T	26216053	1.000000	0.71417	0.995000	0.50966	0.018000	0.09664	2.499000	0.45372	1.583000	0.49898	0.655000	0.94253	CGC		0.502	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2	NM_005323	
UBD	10537	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	6	29524017	29524017	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:29524017C>A	ENST00000377050.4	-	2	361	c.138G>T	c.(136-138)caG>caT	p.Q46H	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	46	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				aggresome assembly (GO:0070842)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein modification by small protein conjugation (GO:0032446)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to organonitrogen compound (GO:0010243)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	proteasome binding (GO:0070628)			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						GAACCTGGTCCTGCACAGGAA	0.463																																						.											0													82.0	68.0	73.0					6																	29524017		1511	2709	4220	SO:0001583	missense	10537			Y12653	CCDS4662.1	6p21.3	2008-04-11			ENSG00000213886	ENSG00000213886			18795	protein-coding gene	gene with protein product		606050				9368598, 8662070	Standard	NM_006398		Approved	FAT10	uc003nmo.3	O15205	OTTHUMG00000031289	ENST00000377050.4:c.138G>T	6.37:g.29524017C>A	ENSP00000366249:p.Gln46His	Somatic		WXS	Illumina HiSeq	Phase_I	B0UZT6|Q5STL2|Q5SUK2|Q96EC7	Missense_Mutation	SNP	ENST00000377050.4	37	CCDS4662.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173002	0.57584	.	.	ENSG00000213886	ENST00000377050	T	0.72725	-0.68	5.17	3.03	0.35002	Ubiquitin supergroup (1);Ubiquitin (2);	0.268702	0.18643	U	0.135240	T	0.48943	0.1528	L	0.36672	1.1	0.80722	D	1	P	0.47484	0.896	P	0.44673	0.457	T	0.55153	-0.8185	10	0.87932	D	0	-14.0263	7.8356	0.29368	0.0:0.7767:0.0:0.2233	.	46	O15205	UBD_HUMAN	H	46	ENSP00000366249:Q46H	ENSP00000366249:Q46H	Q	-	3	2	UBD	29631996	0.001000	0.12720	0.989000	0.46669	0.707000	0.40811	-0.805000	0.04530	1.162000	0.42619	0.609000	0.83330	CAG		0.463	UBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076628.3		
DDR1	780	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	6	30864435	30864435	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:30864435C>T	ENST00000324771.8	+	15	2210	c.1662C>T	c.(1660-1662)ggC>ggT	p.G554G	DDR1_ENST00000513240.1_Silent_p.G554G|DDR1_ENST00000452441.1_Silent_p.G554G|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376570.4_Silent_p.G517G|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000376569.3_Silent_p.G517G|DDR1_ENST00000454612.2_Silent_p.G517G|DDR1_ENST00000508312.1_Silent_p.G535G|DDR1_ENST00000418800.2_Silent_p.G517G|DDR1_ENST00000376568.3_Silent_p.G554G|DDR1_ENST00000376567.2_Silent_p.G517G|DDR1_ENST00000376575.3_Silent_p.G554G			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	554	Gly/Pro-rich.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	AGAAGCCAGGCGCCCCGCTTC	0.607																																						.											0													42.0	49.0	46.0					6																	30864435		2203	4300	6503	SO:0001819	synonymous_variant	780			X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.1662C>T	6.37:g.30864435C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Silent	SNP	ENST00000324771.8	37	CCDS34385.1	.	.	.	.	.	.	.	.	.	.	C	8.689	0.907010	0.17833	.	.	ENSG00000204580	ENST00000514434	.	.	.	5.21	-10.4	0.00318	.	.	.	.	.	T	0.28200	0.0696	.	.	.	0.36146	D	0.847148	.	.	.	.	.	.	T	0.46414	-0.9193	4	.	.	.	.	8.6903	0.34262	0.0:0.4028:0.189:0.4082	.	.	.	.	C	46	.	.	R	+	1	0	DDR1	30972414	0.001000	0.12720	0.144000	0.22314	0.963000	0.63663	-2.977000	0.00664	-1.503000	0.01812	-1.384000	0.01168	CGC		0.607	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994	
MDGA1	266727	hgsc.bcm.edu	37	6	37618098	37618098	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:37618098G>A	ENST00000434837.3	-	8	2574	c.1396C>T	c.(1396-1398)Cgg>Tgg	p.R466W	MDGA1_ENST00000510077.1_5'Flank|MDGA1_ENST00000297153.7_Missense_Mutation_p.R466W|MDGA1_ENST00000505425.1_Missense_Mutation_p.R466W	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	466	Ig-like 5.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GGCTTGCCCCGCACCTCGCAT	0.706																																						.											0													7.0	10.0	9.0					6																	37618098		2028	4132	6160	SO:0001583	missense	266727			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.1396C>T	6.37:g.37618098G>A	ENSP00000402584:p.Arg466Trp	Somatic		WXS	Illumina HiSeq	Phase_I	A6NHG0|Q8NBE3	Missense_Mutation	SNP	ENST00000434837.3	37	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056466	0.76074	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.68025	-0.3;-0.3;-0.3	3.69	3.69	0.42338	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37012	N	0.002289	T	0.67183	0.2866	L	0.43757	1.38	0.38348	D	0.944243	D	0.89917	1.0	D	0.69824	0.966	T	0.72064	-0.4403	10	0.66056	D	0.02	.	12.7081	0.57073	0.0:0.0:1.0:0.0	.	466	Q8NFP4	MDGA1_HUMAN	W	466	ENSP00000402584:R466W;ENSP00000297153:R466W;ENSP00000422042:R466W	ENSP00000297153:R466W	R	-	1	2	MDGA1	37726076	1.000000	0.71417	0.997000	0.53966	0.759000	0.43091	4.821000	0.62679	1.893000	0.54813	0.407000	0.27541	CGG		0.706	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3		
DNAH8	1769	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	38773263	38773263	+	Missense_Mutation	SNP	G	G	A	rs375687323		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:38773263G>A	ENST00000359357.3	+	21	2644	c.2390G>A	c.(2389-2391)cGg>cAg	p.R797Q	DNAH8_ENST00000441566.1_Missense_Mutation_p.R797Q|DNAH8_ENST00000449981.2_Missense_Mutation_p.R1014Q			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	797					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATAGAACAGCGGAAACACGTT	0.328																																						.											0								G	GLN/ARG	0,4406		0,0,2203	100.0	95.0	97.0		3041	2.7	0.9	6		97	3,8597	3.0+/-9.4	0,3,4297	no	missense	DNAH8	NM_001206927.1	43	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	1014/4708	38773263	3,13003	2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2390G>A	6.37:g.38773263G>A	ENSP00000352312:p.Arg797Gln	Somatic		WXS	Illumina HiSeq	Phase_I	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	G	9.880	1.201280	0.22121	0.0	3.49E-4	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.24151	1.9;1.89;1.87	5.45	2.68	0.31781	.	0.435915	0.21628	N	0.071528	T	0.01976	0.0062	N	0.00926	-1.1	0.24700	N	0.993261	B	0.17667	0.023	B	0.09377	0.004	T	0.47983	-0.9074	10	0.12103	T	0.63	.	9.4369	0.38643	0.2346:0.0:0.7654:0.0	.	797	Q96JB1	DYH8_HUMAN	Q	1002;1002;797;797	ENSP00000333363:R1002Q;ENSP00000352312:R797Q;ENSP00000402294:R797Q	ENSP00000333363:R1002Q	R	+	2	0	DNAH8	38881241	0.994000	0.37717	0.925000	0.36789	0.902000	0.53008	0.766000	0.26560	0.797000	0.33971	0.655000	0.94253	CGG		0.328	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
UBR2	23304	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	42641562	42641562	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:42641562G>A	ENST00000372899.1	+	37	4378	c.4120G>A	c.(4120-4122)Gca>Aca	p.A1374T	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.A1374T	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1374					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GAGATTTGCCGCAGCACACTG	0.353																																						.											0													150.0	131.0	138.0					6																	42641562		2203	4300	6503	SO:0001583	missense	23304			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.4120G>A	6.37:g.42641562G>A	ENSP00000361990:p.Ala1374Thr	Somatic		WXS	Illumina HiSeq	Phase_I	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.254407	0.39896	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.57595	0.39;0.39	5.27	4.39	0.52855	.	0.231094	0.45126	D	0.000387	T	0.26340	0.0643	L	0.42245	1.32	0.80722	D	1	B;B	0.27951	0.06;0.195	B;B	0.24394	0.023;0.053	T	0.07654	-1.0761	10	0.22109	T	0.4	-30.9545	13.6138	0.62094	0.0:0.0:0.719:0.281	.	1374;1374	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	T	1374	ENSP00000361990:A1374T;ENSP00000361992:A1374T	ENSP00000361990:A1374T	A	+	1	0	UBR2	42749540	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	2.869000	0.48444	1.196000	0.43129	-0.314000	0.08810	GCA		0.353	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255	
CUL9	23113	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	43164505	43164505	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:43164505T>C	ENST00000252050.4	+	11	2792	c.2708T>C	c.(2707-2709)aTa>aCa	p.I903T	CUL9_ENST00000372647.2_Missense_Mutation_p.I903T|CUL9_ENST00000354495.3_Missense_Mutation_p.I793T	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	903					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CACTCAGGGATAGCACCAAGA	0.537																																						.											0													198.0	164.0	175.0					6																	43164505		2203	4300	6503	SO:0001583	missense	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2708T>C	6.37:g.43164505T>C	ENSP00000252050:p.Ile903Thr	Somatic		WXS	Illumina HiSeq	Phase_I	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	T	12.31	1.898417	0.33535	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.72394	-0.65;-0.65;-0.54	5.08	3.86	0.44501	Armadillo-type fold (1);	1.226840	0.05326	N	0.527436	T	0.34221	0.0890	N	0.22421	0.69	0.09310	N	0.999999	B;B;B	0.33379	0.038;0.41;0.41	B;B;B	0.25614	0.006;0.062;0.062	T	0.11203	-1.0597	10	0.21014	T	0.42	-4.0112	9.0056	0.36109	0.0:0.0:0.1852:0.8148	.	793;903;903	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	T	903;793;903	ENSP00000252050:I903T;ENSP00000346490:I793T;ENSP00000361730:I903T	ENSP00000252050:I903T	I	+	2	0	CUL9	43272483	0.127000	0.22367	0.848000	0.33437	0.492000	0.33523	2.030000	0.41108	2.146000	0.66826	0.533000	0.62120	ATA		0.537	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089	
ZNF318	24149	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	43309889	43309889	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:43309889C>T	ENST00000361428.2	-	8	3414	c.3337G>A	c.(3337-3339)Gcc>Acc	p.A1113T	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1113					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CGCTTTATGGCATCTTGCTTG	0.468																																						.											0													229.0	182.0	198.0					6																	43309889		2203	4300	6503	SO:0001583	missense	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3337G>A	6.37:g.43309889C>T	ENSP00000354964:p.Ala1113Thr	Somatic		WXS	Illumina HiSeq	Phase_I	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	9.480	1.097997	0.20552	.	.	ENSG00000171467	ENST00000361428	T	0.11495	2.77	5.9	-2.06	0.07298	.	0.784196	0.12292	N	0.481978	T	0.01800	0.0057	L	0.44542	1.39	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.47235	-0.9133	10	0.12103	T	0.63	-0.731	3.3182	0.07040	0.1321:0.2018:0.1162:0.5499	.	1113	Q5VUA4	ZN318_HUMAN	T	1113	ENSP00000354964:A1113T	ENSP00000354964:A1113T	A	-	1	0	ZNF318	43417867	0.015000	0.18098	0.354000	0.25760	0.924000	0.55760	0.041000	0.13927	-0.086000	0.12550	0.563000	0.77884	GCC		0.468	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345	
ZNF318	24149	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	43323076	43323076	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:43323076C>A	ENST00000361428.2	-	4	2073	c.1996G>T	c.(1996-1998)Gct>Tct	p.A666S	ZNF318_ENST00000318149.3_Missense_Mutation_p.A666S	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	666					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CGTCGATCAGCTGAGAAGCAG	0.547																																						.											0													152.0	118.0	130.0					6																	43323076		2203	4300	6503	SO:0001583	missense	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1996G>T	6.37:g.43323076C>A	ENSP00000354964:p.Ala666Ser	Somatic		WXS	Illumina HiSeq	Phase_I	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	3.285	-0.146181	0.06627	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.30714	1.52;2.82	3.9	-0.753	0.11068	.	0.375070	0.21947	N	0.066800	T	0.02888	0.0086	N	0.04508	-0.205	0.28921	N	0.892149	B	0.18166	0.026	B	0.16289	0.015	T	0.44922	-0.9296	10	0.07644	T	0.81	-0.7498	8.3459	0.32272	0.3916:0.5317:0.0:0.0767	.	666	Q5VUA4	ZN318_HUMAN	S	666	ENSP00000323032:A666S;ENSP00000354964:A666S	ENSP00000323032:A666S	A	-	1	0	ZNF318	43431054	0.995000	0.38212	0.978000	0.43139	0.717000	0.41224	0.646000	0.24797	0.026000	0.15269	0.306000	0.20318	GCT		0.547	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345	
ABCC10	89845	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	43415467	43415467	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:43415467G>A	ENST00000372530.4	+	18	3966	c.3751G>A	c.(3751-3753)Gtg>Atg	p.V1251M	ABCC10_ENST00000244533.3_Missense_Mutation_p.V1223M	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1251	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GTTCCAGGACGTGGTGTTGGC	0.662																																						.											0													141.0	152.0	148.0					6																	43415467		2203	4300	6503	SO:0001583	missense	89845			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3751G>A	6.37:g.43415467G>A	ENSP00000361608:p.Val1251Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	33	5.204917	0.95033	.	.	ENSG00000124574	ENST00000372530;ENST00000244533;ENST00000443394	D;D	0.92446	-3.04;-3.04	5.61	5.61	0.85477	ABC transporter-like (1);	0.065822	0.64402	D	0.000010	D	0.95906	0.8667	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.75020	0.985;0.866	D	0.95443	0.8527	10	0.56958	D	0.05	-37.1139	19.6398	0.95753	0.0:0.0:1.0:0.0	.	1223;1251	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	M	1251;1223;2	ENSP00000361608:V1251M;ENSP00000244533:V1223M	ENSP00000244533:V1223M	V	+	1	0	ABCC10	43523445	1.000000	0.71417	0.986000	0.45419	0.985000	0.73830	9.862000	0.99564	2.641000	0.89580	0.591000	0.81541	GTG		0.662	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450	
SPATS1	221409	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	6	44329698	44329698	+	Silent	SNP	G	G	A	rs371949352		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:44329698G>A	ENST00000288390.2	+	4	890	c.543G>A	c.(541-543)acG>acA	p.T181T	RP11-444E17.6_ENST00000505802.1_3'UTR|SPATS1_ENST00000323108.8_Silent_p.T181T			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	181										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGAGAGGACGGTGGACAAGT	0.498																																						.											0								G		2,4404	2.1+/-5.4	0,2,2201	188.0	181.0	183.0		543	-7.9	0.1	6		183	0,8600		0,0,4300	no	coding-synonymous	SPATS1	NM_145026.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		181/301	44329698	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	221409			AK058171	CCDS4911.1	6p21.1	2003-08-08			ENSG00000249481	ENSG00000249481			22957	protein-coding gene	gene with protein product							Standard	NM_145026		Approved	SPATA8, FLJ25442, SRSP1	uc021yzz.1	Q496A3	OTTHUMG00000014764	ENST00000288390.2:c.543G>A	6.37:g.44329698G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q496A2|Q496A5|Q96LJ0	Silent	SNP	ENST00000288390.2	37	CCDS4911.1																																																																																				0.498	SPATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040738.2	NM_145026	
GLYATL3	389396	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	49494458	49494458	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:49494458C>T	ENST00000371197.4	+	6	811	c.698C>T	c.(697-699)aCg>aTg	p.T233M		NM_001010904.1	NP_001010904.1	Q5SZD4	GLYL3_HUMAN	glycine-N-acyltransferase-like 3	233						mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(3)|lung(1)|skin(3)|stomach(2)	11						GTGGCCCTCACGCTGGCCAGG	0.592																																						.											0													46.0	50.0	49.0					6																	49494458		692	1591	2283	SO:0001583	missense	389396				CCDS47440.1	6p12.3	2009-12-14	2009-12-14	2009-12-14	ENSG00000203972	ENSG00000203972			21349	protein-coding gene	gene with protein product		614763	"""chromosome 6 open reading frame 140"""	C6orf140			Standard	NM_001010904		Approved	bA28H17.2	uc003ozi.3	Q5SZD4	OTTHUMG00000014818	ENST00000371197.4:c.698C>T	6.37:g.49494458C>T	ENSP00000360240:p.Thr233Met	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000371197.4	37	CCDS47440.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527660	0.64860	.	.	ENSG00000203972	ENST00000371197	T	0.17528	2.27	5.91	5.05	0.67936	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, C-terminal (1);	0.172814	0.50627	N	0.000103	T	0.06050	0.0157	L	0.31526	0.94	0.39165	D	0.962484	D	0.54601	0.967	B	0.41440	0.357	T	0.28364	-1.0046	10	0.34782	T	0.22	-17.0811	11.0723	0.48010	0.0:0.9152:0.0:0.0848	.	233	Q5SZD4	GLYL3_HUMAN	M	233	ENSP00000360240:T233M	ENSP00000360240:T233M	T	+	2	0	GLYATL3	49602417	0.007000	0.16637	0.898000	0.35279	0.941000	0.58515	0.433000	0.21477	1.515000	0.48885	0.655000	0.94253	ACG		0.592	GLYATL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040866.3	NM_001010904	
PHIP	55023	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	79711796	79711796	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:79711796G>A	ENST00000275034.4	-	17	1866	c.1699C>T	c.(1699-1701)Cgt>Tgt	p.R567C		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	567					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TTGGCATCACGAATAAGTGGC	0.373																																						.											0													118.0	109.0	112.0					6																	79711796		2203	4300	6503	SO:0001583	missense	55023			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.1699C>T	6.37:g.79711796G>A	ENSP00000275034:p.Arg567Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471484	0.43942	.	.	ENSG00000146247	ENST00000275034	T	0.51071	0.72	5.63	4.76	0.60689	.	0.147419	0.48286	D	0.000199	T	0.67581	0.2908	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.76454	-0.2953	9	.	.	.	-13.6584	13.1967	0.59743	0.0:0.0:0.7104:0.2896	.	567;567	A7J992;Q8WWQ0	.;PHIP_HUMAN	C	567	ENSP00000275034:R567C	.	R	-	1	0	PHIP	79768515	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	9.358000	0.97109	1.492000	0.48499	-0.175000	0.13238	CGT		0.373	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2		
SNX14	57231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	86248557	86248557	+	Splice_Site	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:86248557G>A	ENST00000314673.3	-	16	1650	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	SNX14_ENST00000346348.3_Intron|SNX14_ENST00000505648.1_Splice_Site_p.R440W|SNX14_ENST00000369627.2_Intron|SNX14_ENST00000513865.1_Intron|SNX14_ENST00000508980.1_Intron	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	492					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		AAGACTTACCGAAAATCATCC	0.303																																						.											0													75.0	74.0	74.0					6																	86248557		2203	4298	6501	SO:0001630	splice_region_variant	57231			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.1475+1C>T	6.37:g.86248557G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533886	0.85812	.	.	ENSG00000135317	ENST00000314673;ENST00000505648	T;T	0.26660	1.72;1.76	5.86	5.86	0.93980	.	0.416196	0.28790	N	0.014139	T	0.31606	0.0802	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.03840	-1.0999	10	0.46703	T	0.11	-8.079	18.7712	0.91893	0.0:0.0:1.0:0.0	.	492;440	Q9Y5W7;Q9Y5W7-3	SNX14_HUMAN;.	W	492;440	ENSP00000313121:R492W;ENSP00000427380:R440W	ENSP00000313121:R492W	R	-	1	2	SNX14	86305276	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.878000	0.69682	2.771000	0.95319	0.563000	0.77884	CGG		0.303	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816	Missense_Mutation
ANKRD6	22881	hgsc.bcm.edu;ucsc.edu	37	6	90333671	90333671	+	Silent	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:90333671T>C	ENST00000522441.1	+	12	1754	c.1113T>C	c.(1111-1113)ccT>ccC	p.P371P	LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000369408.5_Silent_p.P336P|ANKRD6_ENST00000447838.2_Silent_p.P371P|ANKRD6_ENST00000520793.1_Silent_p.P312P|ANKRD6_ENST00000339746.4_Silent_p.P371P	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	371					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		ATAATCACCCTAAAAAGAGGA	0.537																																						.											0													101.0	106.0	105.0					6																	90333671		2078	4216	6294	SO:0001819	synonymous_variant	22881			AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.1113T>C	6.37:g.90333671T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Silent	SNP	ENST00000522441.1	37	CCDS56441.1																																																																																				0.537	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1		
BACH2	60468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	6	90661558	90661558	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:90661558C>T	ENST00000257749.4	-	7	974	c.267G>A	c.(265-267)ccG>ccA	p.P89P	BACH2_ENST00000343122.3_Silent_p.P89P|BACH2_ENST00000537989.1_Silent_p.P89P|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	89	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		ACTGTAACAGCGGCCCAAAGC	0.527																																						.											0													46.0	46.0	46.0					6																	90661558		2202	4297	6499	SO:0001819	synonymous_variant	60468			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.267G>A	6.37:g.90661558C>T		Somatic		WXS	Illumina HiSeq	Phase_I	E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	ENST00000257749.4	37	CCDS5026.1																																																																																				0.527	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813	
MAP3K7	6885	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	6	91261815	91261815	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:91261815G>A	ENST00000369329.3	-	8	981	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C	MAP3K7_ENST00000369327.3_Missense_Mutation_p.R274C|MAP3K7_ENST00000369325.3_Missense_Mutation_p.R274C|MAP3K7_ENST00000369320.1_5'UTR|MAP3K7_ENST00000369332.3_Missense_Mutation_p.R274C	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	274	Interaction with MAPK8IP1. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		ATTGAAGGGCGCTGGGAAGGA	0.413																																						.											0													125.0	121.0	122.0					6																	91261815		2203	4300	6503	SO:0001583	missense	6885			AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.820C>T	6.37:g.91261815G>A	ENSP00000358335:p.Arg274Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	37	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400848	0.83120	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000450832	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.76	5.76	0.90799	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.109878	0.64402	D	0.000005	D	0.93288	0.7861	H	0.99668	4.69	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;1.0;1.0;1.0	D	0.95357	0.8452	10	0.87932	D	0	.	15.1047	0.72312	0.0:0.0:0.8584:0.1416	.	274;274;274;274	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	C	274;274;274;274;201	ENSP00000358338:R274C;ENSP00000358335:R274C;ENSP00000358331:R274C;ENSP00000358333:R274C	ENSP00000358331:R274C	R	-	1	0	MAP3K7	91318536	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.607000	0.54102	2.880000	0.98712	0.650000	0.86243	CGC		0.413	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331	
NOX3	50508	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	155764489	155764489	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:155764489G>A	ENST00000159060.2	-	5	506	c.404C>T	c.(403-405)gCc>gTc	p.A135V		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	135	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AAGTCCCTGGGCCTCCTCGGA	0.577																																						.											0													104.0	87.0	93.0					6																	155764489		2203	4300	6503	SO:0001583	missense	50508			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.404C>T	6.37:g.155764489G>A	ENSP00000159060:p.Ala135Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	G	2.828	-0.243237	0.05906	.	.	ENSG00000074771	ENST00000159060	D	0.95554	-3.74	5.52	3.71	0.42584	Flavoprotein transmembrane component (1);	0.203527	0.34555	N	0.003879	D	0.84247	0.5430	L	0.43152	1.355	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.71849	-0.4468	10	0.15952	T	0.53	-6.1288	9.0805	0.36550	0.074:0.0:0.7802:0.1458	.	135	Q9HBY0	NOX3_HUMAN	V	135	ENSP00000159060:A135V	ENSP00000159060:A135V	A	-	2	0	NOX3	155806181	0.009000	0.17119	0.003000	0.11579	0.032000	0.12392	1.563000	0.36364	0.666000	0.31087	0.561000	0.74099	GCC		0.577	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1		
FBXO24	26261	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	100198383	100198383	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:100198383G>A	ENST00000241071.6	+	10	1926	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H	PCOLCE-AS1_ENST00000446022.1_RNA|FBXO24_ENST00000468962.1_Missense_Mutation_p.R523H|FBXO24_ENST00000360609.2_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.R573H|PCOLCE_ENST00000223061.5_5'Flank|PCOLCE-AS1_ENST00000544873.1_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	535					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TTGCAGGACCGCACGGAGAAG	0.642																																						.											0													83.0	75.0	78.0					7																	100198383		2203	4300	6503	SO:0001583	missense	26261			AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.1604G>A	7.37:g.100198383G>A	ENSP00000241071:p.Arg535His	Somatic		WXS	Illumina HiSeq	Phase_I	A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	37	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	g	12.40	1.927552	0.34002	.	.	ENSG00000106336	ENST00000241071;ENST00000468962;ENST00000427939	T;T;T	0.16196	2.38;2.38;2.36	4.22	4.22	0.49857	.	0.116434	0.37348	N	0.002139	T	0.06554	0.0168	N	0.08118	0	0.80722	D	1	B;B;B;B	0.34329	0.449;0.449;0.449;0.449	B;B;B;B	0.19148	0.024;0.024;0.024;0.024	T	0.32134	-0.9918	10	0.35671	T	0.21	-8.1622	7.8933	0.29691	0.1108:0.0:0.8892:0.0	.	523;573;535;535	B4DY42;B4DX91;A4D2D3;O75426	.;.;.;FBX24_HUMAN	H	535;523;573	ENSP00000241071:R535H;ENSP00000420239:R523H;ENSP00000416558:R573H	ENSP00000241071:R535H	R	+	2	0	FBXO24	100036319	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	3.529000	0.53532	2.191000	0.70037	0.454000	0.30748	CGC		0.642	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1		
SLC12A9	56996	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	100454700	100454700	+	Missense_Mutation	SNP	G	G	A	rs150811167	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:100454700G>A	ENST00000354161.3	+	5	784	c.659G>A	c.(658-660)cGc>cAc	p.R220H	SLC12A9_ENST00000428758.1_Missense_Mutation_p.R220H|SLC12A9_ENST00000415287.1_Missense_Mutation_p.R131H|SLC12A9_ENST00000540482.1_Missense_Mutation_p.R220H|SLC12A9_ENST00000275729.3_Missense_Mutation_p.R131H	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	220					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGGGACATCCGCTTGACTCCT	0.627																																						.											0													99.0	86.0	90.0					7																	100454700		2203	4300	6503	SO:0001583	missense	56996			AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.659G>A	7.37:g.100454700G>A	ENSP00000275730:p.Arg220His	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	G	4.396	0.073139	0.08485	.	.	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161	D;D;D;D;D	0.98835	-5.17;-5.17;-5.17;-5.17;-5.17	4.62	-0.721	0.11189	Amino acid permease domain (1);	0.494253	0.19028	N	0.124638	D	0.92760	0.7698	N	0.14661	0.345	0.09310	N	1	B;B	0.31193	0.312;0.136	B;B	0.23275	0.027;0.045	D	0.87949	0.2722	10	0.45353	T	0.12	.	2.7391	0.05248	0.1331:0.4432:0.2635:0.1603	.	131;220	Q9BXP2-2;Q9BXP2	.;S12A9_HUMAN	H	220;220;131;131;220	ENSP00000443702:R220H;ENSP00000408301:R220H;ENSP00000275729:R131H;ENSP00000413796:R131H;ENSP00000275730:R220H	ENSP00000275729:R131H	R	+	2	0	SLC12A9	100292636	0.000000	0.05858	0.002000	0.10522	0.025000	0.11179	-0.710000	0.05024	-0.560000	0.06102	-0.384000	0.06662	CGC		0.627	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246	
SRRT	51593	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	7	100484814	100484814	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:100484814C>T	ENST00000347433.4	+	15	2126	c.1968C>T	c.(1966-1968)caC>caT	p.H656H	SRRT_ENST00000457580.2_Silent_p.H656H|SRRT_ENST00000388793.4_Silent_p.H655H|SRRT_ENST00000432932.1_Silent_p.H655H			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	656					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GCATCAGTCACGGGGAAGGTG	0.607																																						.											0													93.0	89.0	91.0					7																	100484814		2203	4300	6503	SO:0001819	synonymous_variant	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1968C>T	7.37:g.100484814C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	ENST00000347433.4	37	CCDS34709.1																																																																																				0.607	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908	
MYL10	93408	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	7	101259535	101259535	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:101259535G>A	ENST00000223167.4	-	6	675	c.498C>T	c.(496-498)ttC>ttT	p.F166F		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	166	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						CTTCAGTGTCGAACACTTTGA	0.567																																					Esophageal Squamous(24;575 709 17516 40384 51639)	.											0													117.0	95.0	102.0					7																	101259535		2203	4300	6503	SO:0001819	synonymous_variant	93408			BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"""Myosins / Light chain"", ""EF-hand domain containing"""	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.498C>T	7.37:g.101259535G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000223167.4	37	CCDS34713.1																																																																																				0.567	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403	
CDHR3	222256	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	105669000	105669000	+	Missense_Mutation	SNP	C	C	T	rs368556227		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:105669000C>T	ENST00000317716.9	+	17	2356	c.2276C>T	c.(2275-2277)aCg>aTg	p.T759M	CDHR3_ENST00000343407.5_Silent_p.N261N|CDHR3_ENST00000542731.1_Missense_Mutation_p.T759M|CDHR3_ENST00000478080.1_Missense_Mutation_p.T671M|CDHR3_ENST00000470188.1_3'UTR	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	759					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TCTGCAGAAACGAAGACTGCA	0.537																																						.											0								C	MET/THR	0,3892		0,0,1946	65.0	65.0	65.0		2276	-4.0	0.4	7		65	1,8293		0,1,4146	no	missense	CDHR3	NM_152750.4	81	0,1,6092	TT,TC,CC		0.0121,0.0,0.0082	benign	759/886	105669000	1,12185	1946	4147	6093	SO:0001583	missense	222256			AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.2276C>T	7.37:g.105669000C>T	ENSP00000325954:p.Thr759Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q8TCI7	Missense_Mutation	SNP	ENST00000317716.9	37	CCDS47684.1	.	.	.	.	.	.	.	.	.	.	C	7.912	0.736668	0.15574	0.0	1.21E-4	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080	T;T;T	0.56611	0.55;0.51;0.45	6.08	-3.95	0.04118	.	0.810325	0.11697	N	0.538287	T	0.22781	0.0550	N	0.04297	-0.235	0.25461	N	0.987917	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.17137	-1.0379	10	0.27785	T	0.31	-1.9056	6.6547	0.22981	0.1722:0.4538:0.0:0.3739	.	746;759	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	M	759;759;671	ENSP00000439766:T759M;ENSP00000325954:T759M;ENSP00000417771:T671M	ENSP00000325954:T759M	T	+	2	0	CDHR3	105456236	0.075000	0.21258	0.388000	0.26195	0.467000	0.32768	-0.976000	0.03786	-0.256000	0.09473	-0.982000	0.02568	ACG		0.537	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750	
LAMB4	22798	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	107717415	107717415	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:107717415C>T	ENST00000388781.3	-	17	2181	c.2098G>A	c.(2098-2100)Gct>Act	p.A700T	LAMB4_ENST00000414450.2_Missense_Mutation_p.A700T|LAMB4_ENST00000205386.4_Missense_Mutation_p.A700T|LAMB4_ENST00000418464.1_Missense_Mutation_p.A700T|LAMB4_ENST00000388780.3_Missense_Mutation_p.A700T	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	700	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.A700S(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGTGAATGAGCGTGGGACTCT	0.418																																						.											1	Substitution - Missense(1)	lung(1)											111.0	113.0	113.0					7																	107717415		2203	4300	6503	SO:0001583	missense	22798			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.2098G>A	7.37:g.107717415C>T	ENSP00000373433:p.Ala700Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	1.440	-0.567907	0.03910	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.32272	1.47;1.47;1.5;1.46;1.53	5.3	0.207	0.15214	Laminin IV (1);	0.387023	0.21811	N	0.068775	T	0.18257	0.0438	L	0.39020	1.185	0.09310	N	1	B	0.14805	0.011	B	0.09377	0.004	T	0.29852	-0.9998	10	0.15066	T	0.55	.	7.1886	0.25813	0.1063:0.4809:0.0:0.4128	.	700	A4D0S4	LAMB4_HUMAN	T	700	ENSP00000205386:A700T;ENSP00000373433:A700T;ENSP00000373432:A700T;ENSP00000402353:A700T;ENSP00000402265:A700T	ENSP00000205386:A700T	A	-	1	0	LAMB4	107504651	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	-0.572000	0.05881	-0.383000	0.07858	-1.851000	0.00568	GCT		0.418	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	
DOCK4	9732	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	7	111368531	111368531	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:111368531C>T	ENST00000437633.1	-	52	5956	c.5700G>A	c.(5698-5700)ccG>ccA	p.P1900P	DOCK4_ENST00000428084.1_Silent_p.P1909P|DOCK4_ENST00000494651.2_Silent_p.P783P	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1900	Pro-rich.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGTACGGGGGCGGAGTCTTGC	0.711																																						.											0													24.0	30.0	28.0					7																	111368531		2076	4191	6267	SO:0001819	synonymous_variant	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.5700G>A	7.37:g.111368531C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	C	8.458	0.854645	0.17106	.	.	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	5.59	-7.72	0.01250	.	.	.	.	.	T	0.49012	0.1532	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54417	-0.8297	4	.	.	.	.	8.9441	0.35747	0.0:0.2168:0.447:0.3361	.	.	.	.	H	1323;1933	.	.	R	-	2	0	DOCK4	111155767	0.000000	0.05858	0.092000	0.20876	0.876000	0.50452	-2.142000	0.01298	-1.877000	0.01129	-0.878000	0.02970	CGC		0.711	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705	
WNT2	7472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	116918232	116918232	+	Missense_Mutation	SNP	C	C	T	rs143749132		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:116918232C>T	ENST00000265441.3	-	5	1359	c.1060G>A	c.(1060-1062)Gct>Act	p.A354T		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	354					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GTCCAGTCAGCGTTCTTGGGG	0.567																																						.											0								C	THR/ALA	0,4406		0,0,2203	149.0	115.0	127.0		1060	4.1	1.0	7	dbSNP_134	127	1,8599	1.2+/-3.3	0,1,4299	no	missense	WNT2	NM_003391.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	354/361	116918232	1,13005	2203	4300	6503	SO:0001583	missense	7472			X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.1060G>A	7.37:g.116918232C>T	ENSP00000265441:p.Ala354Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.386759	0.61956	0.0	1.16E-4	ENSG00000105989	ENST00000265441	T	0.75367	-0.93	5.99	4.08	0.47627	.	0.297679	0.32147	N	0.006501	T	0.72692	0.3492	M	0.75447	2.3	0.27854	N	0.94063	P;P	0.40332	0.713;0.713	B;B	0.32864	0.154;0.154	T	0.71932	-0.4443	10	0.59425	D	0.04	.	17.7731	0.88499	0.0:0.7421:0.2579:0.0	.	354;354	A4D0V1;P09544	.;WNT2_HUMAN	T	354	ENSP00000265441:A354T	ENSP00000265441:A354T	A	-	1	0	WNT2	116705468	0.912000	0.30974	0.991000	0.47740	0.925000	0.55904	2.211000	0.42825	1.513000	0.48852	0.655000	0.94253	GCT		0.567	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391	
CTTNBP2	83992	hgsc.bcm.edu;ucsc.edu	37	7	117407222	117407222	+	Silent	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:117407222T>C	ENST00000160373.3	-	9	2878	c.2787A>G	c.(2785-2787)ctA>ctG	p.L929L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	929					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ACAAGATTTCTAGGCAGTTCT	0.443																																						.											0													123.0	108.0	113.0					7																	117407222		2203	4300	6503	SO:0001819	synonymous_variant	83992				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.2787A>G	7.37:g.117407222T>C		Somatic		WXS	Illumina HiSeq	Phase_I	O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	37	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	T	9.882	1.201776	0.22121	.	.	ENSG00000077063	ENST00000446636	.	.	.	5.64	0.326	0.15908	.	.	.	.	.	T	0.50429	0.1615	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34030	-0.9845	4	.	.	.	-9.2463	4.8846	0.13697	0.1252:0.2842:0.0:0.5907	.	.	.	.	G	417	.	.	R	-	1	2	CTTNBP2	117194458	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	0.779000	0.26746	-0.099000	0.12263	-0.375000	0.07067	AGA		0.443	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427	
VWDE	221806	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	7	12396889	12396889	+	Splice_Site	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:12396889A>G	ENST00000275358.3	-	17	3714		c.e17+1			NM_001135924.1	NP_001129396.1	Q8N2E2	VWDE_HUMAN	von Willebrand factor D and EGF domains							extracellular region (GO:0005576)				breast(4)|endometrium(2)|kidney(1)|skin(1)	8						TATAAAGATTACCTCAATCGT	0.338																																						.											0													102.0	86.0	91.0					7																	12396889		692	1591	2283	SO:0001630	splice_region_variant	221806				CCDS47544.1	7p21.3	2008-09-23			ENSG00000146530	ENSG00000146530			21897	protein-coding gene	gene with protein product						14702039, 16303743	Standard	NM_001135924		Approved	FLJ14712	uc003ssj.2	Q8N2E2	OTTHUMG00000152315	ENST00000275358.3:c.3525+1T>C	7.37:g.12396889A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B7ZM77|Q96SQ3	Splice_Site	SNP	ENST00000275358.3	37	CCDS47544.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.106245	0.56291	.	.	ENSG00000146530	ENST00000275358;ENST00000536307	.	.	.	3.96	3.96	0.45880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2931	0.60282	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VWDE	12363414	1.000000	0.71417	0.673000	0.29887	0.260000	0.26232	7.298000	0.78815	1.792000	0.52537	0.528000	0.53228	.		0.338	VWDE-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325870.3	XM_371878	Intron
WASL	8976	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	123346348	123346348	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:123346348C>T	ENST00000223023.4	-	4	751	c.419G>A	c.(418-420)cGt>cAt	p.R140H		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	140	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTTTGTCGACGGCCCAAAAG	0.363																																						.											0													68.0	68.0	68.0					7																	123346348		2203	4300	6503	SO:0001583	missense	8976			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.419G>A	7.37:g.123346348C>T	ENSP00000223023:p.Arg140His	Somatic		WXS	Illumina HiSeq	Phase_I	A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962656	0.74016	.	.	ENSG00000106299	ENST00000223023	D	0.99511	-6.05	5.77	5.77	0.91146	EVH1 (1);Pleckstrin homology-type (1);	0.052002	0.85682	D	0.000000	D	0.99199	0.9722	L	0.38838	1.175	0.80722	D	1	D	0.64830	0.994	D	0.71870	0.975	D	0.99904	1.1174	10	0.72032	D	0.01	-13.4183	20.3627	0.98863	0.0:1.0:0.0:0.0	.	140	O00401	WASL_HUMAN	H	140	ENSP00000223023:R140H	ENSP00000223023:R140H	R	-	2	0	WASL	123133584	0.993000	0.37304	0.925000	0.36789	0.964000	0.63967	3.476000	0.53143	2.885000	0.99019	0.655000	0.94253	CGT		0.363	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941	
NUP205	23165	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	135292055	135292055	+	Missense_Mutation	SNP	C	C	T	rs540996642	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:135292055C>T	ENST00000285968.6	+	22	3157	c.3131C>T	c.(3130-3132)aCg>aTg	p.T1044M		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1044					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAGAAAGGAACGGAAGGGAGA	0.463																																						.											0													99.0	94.0	96.0					7																	135292055		2203	4300	6503	SO:0001583	missense	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.3131C>T	7.37:g.135292055C>T	ENSP00000285968:p.Thr1044Met	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966911	0.74131	.	.	ENSG00000155561	ENST00000285968	T	0.29917	1.55	5.15	5.15	0.70609	.	0.047461	0.85682	D	0.000000	T	0.40423	0.1116	L	0.34521	1.04	0.80722	D	1	D	0.65815	0.995	P	0.55545	0.778	T	0.14337	-1.0476	10	0.46703	T	0.11	-10.5056	18.9876	0.92779	0.0:1.0:0.0:0.0	.	1044	Q92621	NU205_HUMAN	M	1044	ENSP00000285968:T1044M	ENSP00000285968:T1044M	T	+	2	0	NUP205	134942595	0.999000	0.42202	0.784000	0.31847	0.898000	0.52572	3.793000	0.55484	2.550000	0.86006	0.561000	0.74099	ACG		0.463	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1		
UBN2	254048	broad.mit.edu;hgsc.bcm.edu	37	7	138969008	138969010	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	CAG	CAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:138969008_138969010delCAG	ENST00000473989.3	+	15	3357_3359	c.3357_3359delCAG	c.(3355-3360)atcagc>atc	p.S1120del	UBN2_ENST00000288561.8_In_Frame_Del_p.S1037del	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1120	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GAATGAACATCAGCAGACAGTCT	0.493																																						.											0																																										SO:0001651	inframe_deletion	254048			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3357_3359delCAG	7.37:g.138969011_138969013delCAG	ENSP00000418648:p.Ser1120del	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	In_Frame_Del	DEL	ENST00000473989.3	37	CCDS43655.2																																																																																				0.493	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569	
OR9A4	130075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	7	141619431	141619431	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:141619431C>T	ENST00000548136.1	+	1	815	c.756C>T	c.(754-756)taC>taT	p.Y252Y	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y252*(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TGATTGGCTACGGCAGCTGCT	0.498																																						.											1	Substitution - Nonsense(1)	lung(1)											71.0	75.0	74.0					7																	141619431		2203	4300	6503	SO:0001819	synonymous_variant	130075				CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.756C>T	7.37:g.141619431C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B9EGV6|Q6IFI4	Silent	SNP	ENST00000548136.1	37	CCDS43661.1																																																																																				0.498	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656	
PRSS58	136541	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	141952190	141952190	+	Splice_Site	SNP	C	C	T	rs533423282	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:141952190C>T	ENST00000552471.1	-	5	896	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	PRSS58_ENST00000547058.2_Splice_Site_p.E193K			Q8IYP2	PRS58_HUMAN	protease, serine, 58	193	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GCAGAAACTTCCTGCCAGGAA	0.408													C|||	2	0.000399361	0.0	0.0	5008	,	,		18676	0.0		0.0	False		,,,				2504	0.002					.											0													53.0	54.0	54.0					7																	141952190		2203	4300	6503	SO:0001630	splice_region_variant	136541				CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.577-1G>A	7.37:g.141952190C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	37	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744598	0.89663	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.88431	-2.38;-2.38	5.24	5.24	0.73138	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.93969	0.8069	M	0.77103	2.36	0.49798	D	0.999822	D	0.89917	1.0	D	0.85130	0.997	D	0.94161	0.7414	9	0.72032	D	0.01	.	14.1973	0.65679	0.0:1.0:0.0:0.0	.	193	Q8IYP2	PRS58_HUMAN	K	193	ENSP00000447588:E193K;ENSP00000446916:E193K	ENSP00000307206:E193K	E	-	1	0	PRSS58	141598668	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	3.896000	0.56266	2.723000	0.93209	0.655000	0.94253	GAA		0.408	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317	Missense_Mutation
OR2A2	442361	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	7	143807471	143807471	+	Nonsense_Mutation	SNP	C	C	T	rs536132673		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:143807471C>T	ENST00000408979.2	+	1	865	c.796C>T	c.(796-798)Cga>Tga	p.R266*		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CTCTAATCAACGAGAGGAGCA	0.512													-|||	1	0.000199681	0.0	0.0	5008	,	,		19383	0.001		0.0	False		,,,				2504	0.0					.											0													174.0	169.0	171.0					7																	143807471		2028	4204	6232	SO:0001587	stop_gained	442361				CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.796C>T	7.37:g.143807471C>T	ENSP00000386209:p.Arg266*	Somatic		WXS	Illumina HiSeq	Phase_I	B2RN85|Q8NGT6	Nonsense_Mutation	SNP	ENST00000408979.2	37	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417609	0.25552	.	.	ENSG00000221989	ENST00000408979	.	.	.	3.47	1.61	0.23674	.	1.769010	0.04226	U	0.334378	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	0.2154	4.7794	0.13195	0.0:0.6092:0.0:0.3908	.	.	.	.	X	266	.	ENSP00000386209:R266X	R	+	1	2	OR2A2	143438404	0.000000	0.05858	0.001000	0.08648	0.045000	0.14185	-2.818000	0.00751	0.795000	0.33922	0.511000	0.50034	CGA		0.512	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1		
SSPO	23145	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	7	149483252	149483252	+	RNA	SNP	G	G	A	rs374088477		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:149483252G>A	ENST00000378016.2	+	0	3320							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)	p.R357L(1)				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGCCTGCGTCGTGCTGGCCTC	0.652																																						.											1	Substitution - Missense(1)	lung(1)						G		1,4273		0,1,2136	34.0	41.0	39.0		3324	-8.3	0.0	7		39	0,8480		0,0,4240	no	coding-notMod3	SSPO	NM_198455.2		0,1,6376	AA,AG,GG		0.0,0.0234,0.0078			149483252	1,12753	2137	4240	6377			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149483252G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																					0.652	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			
TMEM176B	28959	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	7	150490188	150490188	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:150490188C>T	ENST00000447204.2	-	5	960	c.588G>A	c.(586-588)atG>atA	p.M196I	TMEM176B_ENST00000492607.1_Missense_Mutation_p.M196I|TMEM176B_ENST00000429904.2_Missense_Mutation_p.M196I|TMEM176B_ENST00000326442.5_Missense_Mutation_p.M196I|TMEM176B_ENST00000434545.1_Missense_Mutation_p.M196I|TMEM176B_ENST00000450753.2_Missense_Mutation_p.M159I	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	196					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAGCATCTGCATGTAAGCTC	0.557																																						.											0													131.0	106.0	115.0					7																	150490188		2203	4300	6503	SO:0001583	missense	28959			AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.588G>A	7.37:g.150490188C>T	ENSP00000410269:p.Met196Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Missense_Mutation	SNP	ENST00000447204.2	37	CCDS5908.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939542	0.52972	.	.	ENSG00000106565	ENST00000492607;ENST00000326442;ENST00000447204;ENST00000434545;ENST00000429904;ENST00000450753;ENST00000528038	T;T;T;T;T;T	0.02280	4.36;4.36;4.36;4.36;4.36;4.36	3.7	3.7	0.42460	.	0.436853	0.20880	U	0.084010	T	0.08537	0.0212	M	0.73598	2.24	0.09310	N	0.999992	P;D	0.56968	0.945;0.978	P;P	0.57620	0.76;0.824	T	0.02901	-1.1096	10	0.56958	D	0.05	-14.5952	11.6847	0.51479	0.0:1.0:0.0:0.0	.	159;196	E9PAV4;Q3YBM2	.;T176B_HUMAN	I	196;196;196;196;196;159;196	ENSP00000419258:M196I;ENSP00000318409:M196I;ENSP00000410269:M196I;ENSP00000413531:M196I;ENSP00000397810:M196I;ENSP00000404831:M159I	ENSP00000318409:M196I	M	-	3	0	TMEM176B	150121121	0.666000	0.27475	0.064000	0.19789	0.007000	0.05969	2.540000	0.45727	2.023000	0.59567	0.448000	0.29417	ATG		0.557	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349204.1	NM_014020	
TMEM184A	202915	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	7	1588279	1588279	+	Silent	SNP	G	G	A	rs368580121		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:1588279G>A	ENST00000297477.5	-	7	1006	c.690C>T	c.(688-690)tcC>tcT	p.S230S	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	230					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)		CGAGGCTGACGGAGGCGTTGT	0.637																																						.											0								G		3,4397	6.2+/-15.9	0,3,2197	119.0	150.0	139.0		690	-10.2	0.0	7		139	0,8598		0,0,4299	no	coding-synonymous	TMEM184A	NM_001097620.1		0,3,6496	AA,AG,GG		0.0,0.0682,0.0231		230/414	1588279	3,12995	2200	4299	6499	SO:0001819	synonymous_variant	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.690C>T	7.37:g.1588279G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q8TBQ6	Silent	SNP	ENST00000297477.5	37	CCDS43537.1																																																																																				0.637	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689	
COL28A1	340267	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	7	7472278	7472278	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:7472278G>A	ENST00000399429.3	-	24	2054	c.1914C>T	c.(1912-1914)ggC>ggT	p.G638G		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	638					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CACCAGGATAGCCATCACCTT	0.488																																						.											0													109.0	113.0	112.0					7																	7472278		2006	4166	6172	SO:0001819	synonymous_variant	340267			AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.1914C>T	7.37:g.7472278G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Silent	SNP	ENST00000399429.3	37	CCDS43553.1																																																																																				0.488	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763	
FAM221A	340277	hgsc.bcm.edu;ucsc.edu	37	7	23724139	23724139	+	Silent	SNP	A	A	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:23724139A>T	ENST00000344962.4	+	2	176	c.87A>T	c.(85-87)ggA>ggT	p.G29G	FAM221A_ENST00000409192.3_Silent_p.G29G|FAM221A_ENST00000409994.3_Intron|FAM221A_ENST00000409653.1_Intron	NM_199136.3	NP_954587.2	A4D161	F221A_HUMAN	family with sequence similarity 221, member A	29																	AGGATGATGGAGGGAAACTTT	0.363																																						.											0													58.0	60.0	59.0					7																	23724139		2203	4300	6503	SO:0001819	synonymous_variant	340277				CCDS5385.1, CCDS47561.1, CCDS47562.1, CCDS75570.1	7p15.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000188732	ENSG00000188732			27977	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 46"""	C7orf46		12477932	Standard	XR_242080		Approved	FLJ45875, MGC72075, DKFZp686F0810	uc003swo.4	A4D161	OTTHUMG00000128463	ENST00000344962.4:c.87A>T	7.37:g.23724139A>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q05CG4|Q4G0Q7|Q6P519	Silent	SNP	ENST00000344962.4	37	CCDS5385.1																																																																																				0.363	FAM221A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250261.1	NM_199136	
URGCP	55665	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	43917672	43917672	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:43917672C>T	ENST00000453200.1	-	6	1883	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	URGCP_ENST00000443736.1_Missense_Mutation_p.E421K|URGCP_ENST00000447717.3_Missense_Mutation_p.E421K|URGCP_ENST00000223341.7_Missense_Mutation_p.E421K|URGCP_ENST00000336086.6_Missense_Mutation_p.E421K|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000402306.3_Missense_Mutation_p.E455K|URGCP-MRPS24_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	464					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCACAGTCCTCGTCGACCTTT	0.587																																						.											0													128.0	135.0	133.0					7																	43917672		2041	4188	6229	SO:0001583	missense	55665				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1390G>A	7.37:g.43917672C>T	ENSP00000396918:p.Glu464Lys	Somatic		WXS	Illumina HiSeq	Phase_I	E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170495	0.78452	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.14766	2.51;2.51;2.48;2.51;2.48;2.51	5.79	5.79	0.91817	.	0.100474	0.64402	D	0.000004	T	0.42381	0.1200	M	0.84082	2.675	0.39491	D	0.968051	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.973	T	0.42032	-0.9475	10	0.87932	D	0	-43.3797	17.5201	0.87784	0.0:1.0:0.0:0.0	.	455;464	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	K	421;421;455;421;464;421	ENSP00000223341:E421K;ENSP00000336872:E421K;ENSP00000384955:E455K;ENSP00000392136:E421K;ENSP00000396918:E464K;ENSP00000402803:E421K	ENSP00000223341:E421K	E	-	1	0	URGCP	43884197	0.999000	0.42202	0.967000	0.41034	0.729000	0.41735	4.298000	0.59067	2.735000	0.93741	0.655000	0.94253	GAG		0.587	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664	
NPC1L1	29881	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	7	44579467	44579467	+	Missense_Mutation	SNP	C	C	T	rs149017550	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:44579467C>T	ENST00000289547.4	-	2	584	c.529G>A	c.(529-531)Gtc>Atc	p.V177I	NPC1L1_ENST00000381160.3_Missense_Mutation_p.V177I|NPC1L1_ENST00000423141.1_Missense_Mutation_p.V177I|NPC1L1_ENST00000546276.1_Missense_Mutation_p.V177I	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	177					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCTGCAGGGACGCGCACACGG	0.622													C|||	10	0.00199681	0.0	0.0	5008	,	,		20278	0.0		0.0099	False		,,,				2504	0.0					.											0								C	ILE/VAL,ILE/VAL	1,4405		0,1,2202	56.0	50.0	52.0		529,529	-0.2	0.9	7	dbSNP_134	52	51,8549		0,51,4249	yes	missense,missense	NPC1L1	NM_001101648.1,NM_013389.2	29,29	0,52,6451	TT,TC,CC		0.593,0.0227,0.3998	benign,benign	177/1333,177/1360	44579467	52,12954	2203	4300	6503	SO:0001583	missense	29881				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.529G>A	7.37:g.44579467C>T	ENSP00000289547:p.Val177Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	CCDS5491.1	9	0.004120879120879121	0	0.0	0	0.0	0	0.0	9	0.011873350923482849	N	0.005	-2.221995	0.00283	2.27E-4	0.00593	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66	5.04	-0.208	0.13185	.	0.337134	0.29868	N	0.010994	T	0.57154	0.2034	N	0.00595	-1.35	0.09310	N	0.999999	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.60707	-0.7210	10	0.23891	T	0.37	-27.144	5.2314	0.15424	0.0:0.3359:0.1498:0.5143	.	177;177;177;177	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	I	177	ENSP00000289547:V177I;ENSP00000370552:V177I;ENSP00000438033:V177I;ENSP00000404670:V177I	ENSP00000289547:V177I	V	-	1	0	NPC1L1	44545992	0.285000	0.24296	0.873000	0.34254	0.021000	0.10359	0.124000	0.15728	-0.265000	0.09352	-0.505000	0.04504	GTC		0.622	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389	
LAT2	7462	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	7	73630393	73630393	+	Missense_Mutation	SNP	C	C	T	rs369438020		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:73630393C>T	ENST00000460943.1	+	3	977	c.88C>T	c.(88-90)Cgc>Tgc	p.R30C	LAT2_ENST00000398475.1_Missense_Mutation_p.R30C|LAT2_ENST00000275635.7_Missense_Mutation_p.R30C|LAT2_ENST00000344995.5_Missense_Mutation_p.R30C	NM_032464.2	NP_115853.2	Q9UHI5	LAT2_HUMAN	linker for activation of T cells family, member 2	0					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6					L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GCGCTGCTCACGCCCAGGTAA	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18325	0.0		0.0	False		,,,				2504	0.0					.											0								C	CYS/ARG,CYS/ARG,CYS/ARG	0,4308		0,0,2154	36.0	45.0	42.0		88,88,88	3.5	0.7	7		42	2,8488		0,2,4243	no	missense,missense,missense	LAT2	NM_014146.3,NM_032463.2,NM_032464.2	180,180,180	0,2,6397	TT,TC,CC		0.0236,0.0,0.0156	probably-damaging,probably-damaging,probably-damaging	30/244,30/244,30/244	73630393	2,12796	2154	4245	6399	SO:0001583	missense	7462			AF257135	CCDS5566.2	7q11.23	2011-11-01	2005-04-26	2005-04-26	ENSG00000086730	ENSG00000086730			12749	protein-coding gene	gene with protein product	"""linker for activation of B cells"", ""non-T cell activation linker"", ""linker for activation of T cells, transmembrane adaptor 2"""	605719	"""Williams-Beuren syndrome chromosome region 5"""	WBSCR15, WBSCR5		8812460, 12514734	Standard	NM_032464		Approved	WSCR5, HSPC046, LAB, NTAL	uc003uai.3	Q9GZY6	OTTHUMG00000130151	ENST00000460943.1:c.88C>T	7.37:g.73630393C>T	ENSP00000420494:p.Arg30Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000460943.1	37	CCDS5566.2	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036763	0.54896	0.0	2.36E-4	ENSG00000086730	ENST00000465116;ENST00000344995;ENST00000460943;ENST00000475494;ENST00000398475;ENST00000361082;ENST00000275635;ENST00000470709	T;T;T;T;T;T;T;T	0.09911	2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93	3.49	3.49	0.39957	.	0.403035	0.18670	N	0.134471	T	0.19565	0.0470	L	0.32530	0.975	0.40535	D	0.98096	D	0.89917	1.0	D	0.69654	0.965	T	0.01360	-1.1375	10	0.66056	D	0.02	-10.4302	10.7933	0.46445	0.0:1.0:0.0:0.0	.	30	Q9GZY6	NTAL_HUMAN	C	30	ENSP00000420549:R30C;ENSP00000344881:R30C;ENSP00000420494:R30C;ENSP00000417533:R30C;ENSP00000381492:R30C;ENSP00000354374:R30C;ENSP00000275635:R30C;ENSP00000419150:R30C	ENSP00000275635:R30C	R	+	1	0	LAT2	73268329	0.967000	0.33354	0.740000	0.30986	0.478000	0.33099	1.466000	0.35310	2.256000	0.74724	0.561000	0.74099	CGC		0.647	LAT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277062.1		
LMTK2	22853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	97823453	97823453	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:97823453G>A	ENST00000297293.5	+	11	3969	c.3676G>A	c.(3676-3678)Gct>Act	p.A1226T		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1226					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CTGCACCCTCGCTTCCACGGG	0.607																																						.											0													67.0	64.0	65.0					7																	97823453		2203	4300	6503	SO:0001583	missense	22853			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3676G>A	7.37:g.97823453G>A	ENSP00000297293:p.Ala1226Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	5.442	0.266728	0.10294	.	.	ENSG00000164715	ENST00000297293	T	0.77229	-1.08	5.84	0.0503	0.14293	.	0.727788	0.13285	N	0.399478	T	0.59142	0.2172	L	0.29908	0.895	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.37384	-0.9708	10	0.12766	T	0.61	.	5.8759	0.18828	0.6301:0.0:0.2131:0.1568	.	1226	Q8IWU2	LMTK2_HUMAN	T	1226	ENSP00000297293:A1226T	ENSP00000297293:A1226T	A	+	1	0	LMTK2	97661389	0.085000	0.21516	0.033000	0.17914	0.382000	0.30200	0.427000	0.21379	-0.208000	0.10171	-0.345000	0.07892	GCT		0.607	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916	
TRRAP	8295	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	7	98576517	98576517	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:98576517C>T	ENST00000359863.4	+	57	8812	c.8603C>T	c.(8602-8604)gCg>gTg	p.A2868V	TRRAP_ENST00000446306.3_Missense_Mutation_p.A2850V|TRRAP_ENST00000355540.3_Missense_Mutation_p.A2850V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2868	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.A2850V(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATGAAGGAGGCGCTGGTGCAG	0.622																																						.											1	Substitution - Missense(1)	stomach(1)											45.0	47.0	46.0					7																	98576517		2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.8603C>T	7.37:g.98576517C>T	ENSP00000352925:p.Ala2868Val	Somatic		WXS	Illumina HiSeq	Phase_I	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.64|18.64	3.666500|3.666500	0.67814|0.67814	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.69040|.	-0.37;-0.37|.	6.03|6.03	6.03|6.03	0.97812|0.97812	PIK-related kinase (1);PIK-related kinase, FAT (1);|.	0.055526|.	0.64402|.	D|.	0.000001|.	T|T	0.71986|0.71986	0.3405|0.3405	L|L	0.52206|0.52206	1.635|1.635	0.80722|0.80722	D|D	1|1	P;B;P|.	0.38711|.	0.594;0.113;0.643|.	B;B;B|.	0.28709|.	0.067;0.056;0.093|.	T|T	0.65952|0.65952	-0.6043|-0.6043	10|5	0.31617|.	T|.	0.26|.	.|.	20.5568|20.5568	0.99304|0.99304	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2850;2589;2868|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	V|C	2868;2850;2849|2590	ENSP00000352925:A2868V;ENSP00000347733:A2850V|.	ENSP00000347733:A2850V|.	A|R	+|+	2|1	0|0	TRRAP|TRRAP	98414453|98414453	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.916000|0.916000	0.54674|0.54674	7.818000|7.818000	0.86416|0.86416	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.622	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
ZNF3	7551	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	99669271	99669271	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:99669271G>A	ENST00000424697.1	-	6	1142	c.836C>T	c.(835-837)aCg>aTg	p.T279M	ZNF3_ENST00000303915.6_Missense_Mutation_p.T279M|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000299667.4_Missense_Mutation_p.T279M	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	279					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TTTCTCCCCCGTGTGGATCCT	0.502																																						.											0													64.0	73.0	70.0					7																	99669271		2201	4299	6500	SO:0001583	missense	7551			AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.836C>T	7.37:g.99669271G>A	ENSP00000415358:p.Thr279Met	Somatic		WXS	Illumina HiSeq	Phase_I	D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241770	0.58995	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667	T;T;T	0.26373	1.74;1.74;1.74	4.71	3.82	0.43975	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000041	T	0.50718	0.1632	M	0.77486	2.375	0.42125	D	0.991445	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.987	T	0.57900	-0.7731	10	0.87932	D	0	-34.2278	12.9626	0.58466	0.0:0.1644:0.8356:0.0	.	262;279	B3KRP4;P17036	.;ZNF3_HUMAN	M	279	ENSP00000415358:T279M;ENSP00000306372:T279M;ENSP00000299667:T279M	ENSP00000299667:T279M	T	-	2	0	ZNF3	99507207	1.000000	0.71417	0.852000	0.33557	0.952000	0.60782	6.437000	0.73421	1.344000	0.45657	0.655000	0.94253	ACG		0.502	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715	
KCNH2	3757	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	7	150648045	150648045	+	Silent	SNP	G	G	A	rs202214833		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:150648045G>A	ENST00000262186.5	-	8	2510	c.2109C>T	c.(2107-2109)caC>caT	p.H703H	KCNH2_ENST00000430723.3_Silent_p.H703H|KCNH2_ENST00000392968.2_Silent_p.H607H|KCNH2_ENST00000330883.4_Silent_p.H363H	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	703					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	AGGACCAGGCGTGCTGGAAGT	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		17046	0.001		0.0	False		,,,				2504	0.0				GBM(137;110 1844 13671 20123 45161)	.											0													106.0	83.0	91.0					7																	150648045		2203	4300	6503	SO:0001819	synonymous_variant	3757			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.2109C>T	7.37:g.150648045G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000262186.5	37	CCDS5910.1																																																																																				0.652	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238	
CSMD3	114788	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	8	113657336	113657336	+	Splice_Site	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:113657336A>G	ENST00000297405.5	-	20	3555		c.e20+1		MIR2053_ENST00000459295.1_RNA|CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAGGCAAATTACCTTTTCCAT	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												.											0													85.0	85.0	85.0					8																	113657336		2203	4300	6503	SO:0001630	splice_region_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3310+1T>C	8.37:g.113657336A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	13.72	2.321813	0.41096	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4053	0.83662	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD3	113726512	1.000000	0.71417	1.000000	0.80357	0.345000	0.29048	5.160000	0.64929	2.333000	0.79357	0.482000	0.46254	.		0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Intron
TRPS1	7227	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	116430676	116430676	+	Missense_Mutation	SNP	C	C	T	rs549374718		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:116430676C>T	ENST00000220888.5	-	5	2825	c.2666G>A	c.(2665-2667)cGt>cAt	p.R889H	TRPS1_ENST00000520276.1_Missense_Mutation_p.R893H|TRPS1_ENST00000519076.1_Missense_Mutation_p.R643H|TRPS1_ENST00000395715.3_Missense_Mutation_p.R902H			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	889					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GGAGCCTCTACGCCTCTGAAA	0.478									Langer-Giedion syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		19725	0.0		0.0	False		,,,				2504	0.001					.											0													91.0	93.0	92.0					8																	116430676		1913	4124	6037	SO:0001583	missense	7227	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2666G>A	8.37:g.116430676C>T	ENSP00000220888:p.Arg889His	Somatic		WXS	Illumina HiSeq	Phase_I	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37		.	.	.	.	.	.	.	.	.	.	C	19.18	3.777453	0.70107	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276	D;D;D;D	0.99683	-6.39;-6.39;-6.39;-6.39	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.99402	0.9789	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	D	0.99601	1.0978	10	0.72032	D	0.01	.	20.0805	0.97772	0.0:1.0:0.0:0.0	.	893;889;902	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	H	902;889;643;893	ENSP00000379065:R902H;ENSP00000220888:R889H;ENSP00000428910:R643H;ENSP00000428680:R893H	ENSP00000220888:R889H	R	-	2	0	TRPS1	116499852	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.899000	0.63245	2.755000	0.94549	0.650000	0.86243	CGT		0.478	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112	
ENPP2	5168	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	8	120606001	120606001	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:120606001C>T	ENST00000075322.6	-	12	1130	c.1072G>A	c.(1072-1074)Gga>Aga	p.G358R	ENPP2_ENST00000259486.6_Missense_Mutation_p.G410R|ENPP2_ENST00000427067.2_Missense_Mutation_p.G354R|ENPP2_ENST00000522826.1_Missense_Mutation_p.G358R|ENPP2_ENST00000522167.1_5'Flank	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	358					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCATGGTCTCCGACAAAGATG	0.393																																					Melanoma(20;305 879 2501 4818 31020)	.											0													239.0	223.0	229.0					8																	120606001		2203	4300	6503	SO:0001583	missense	5168			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1072G>A	8.37:g.120606001C>T	ENSP00000075322:p.Gly358Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261552	0.80358	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	5.26	5.26	0.73747	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.89577	0.6755	M	0.92026	3.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91579	0.5277	10	0.87932	D	0	.	19.2484	0.93912	0.0:1.0:0.0:0.0	.	358;358;410	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	R	410;354;358;358	ENSP00000259486:G410R;ENSP00000403315:G354R;ENSP00000428291:G358R;ENSP00000075322:G358R	ENSP00000075322:G358R	G	-	1	0	ENPP2	120675182	1.000000	0.71417	0.998000	0.56505	0.544000	0.35116	7.750000	0.85110	2.629000	0.89072	0.655000	0.94253	GGA		0.393	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1		
ENPP2	5168	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	8	120628543	120628543	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:120628543G>A	ENST00000075322.6	-	8	797	c.739C>T	c.(739-741)Cga>Tga	p.R247*	ENPP2_ENST00000259486.6_Nonsense_Mutation_p.R247*|ENPP2_ENST00000427067.2_Nonsense_Mutation_p.R243*|ENPP2_ENST00000522826.1_Nonsense_Mutation_p.R247*	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	247	Substrate binding. {ECO:0000250}.				cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATTTCTCTCGCCCTCGCAGA	0.378																																					Melanoma(20;305 879 2501 4818 31020)	.											0													132.0	117.0	122.0					8																	120628543		2203	4300	6503	SO:0001587	stop_gained	5168			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.739C>T	8.37:g.120628543G>A	ENSP00000075322:p.Arg247*	Somatic		WXS	Illumina HiSeq	Phase_I	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Nonsense_Mutation	SNP	ENST00000075322.6	37	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896837	0.72639	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322;ENST00000520066	.	.	.	5.55	3.71	0.42584	.	0.124216	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	13.5977	0.62000	0.0:0.0:0.5932:0.4068	.	.	.	.	X	247;243;247;247;229	.	ENSP00000075322:R247X	R	-	1	2	ENPP2	120697724	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	2.426000	0.44731	0.662000	0.31006	0.563000	0.77884	CGA		0.378	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1		
C8orf48	157773	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	13424581	13424581	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:13424581C>G	ENST00000297324.4	+	1	230	c.81C>G	c.(79-81)aaC>aaG	p.N27K	RP11-145O15.3_ENST00000529018.1_RNA	NM_001007090.2	NP_001007091	Q96LL4	CH048_HUMAN	chromosome 8 open reading frame 48	27										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	5						CTTTGAAGAACTCTACTGATG	0.527																																						.											0													36.0	35.0	35.0					8																	13424581		692	1591	2283	SO:0001583	missense	157773			AK058131	CCDS47809.1	8p22	2012-04-13			ENSG00000164743	ENSG00000164743			26345	protein-coding gene	gene with protein product						12477932	Standard	NM_001007090		Approved	FLJ25402	uc003wwp.3	Q96LL4	OTTHUMG00000165482	ENST00000297324.4:c.81C>G	8.37:g.13424581C>G	ENSP00000297324:p.Asn27Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q96LJ9	Missense_Mutation	SNP	ENST00000297324.4	37	CCDS47809.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569394	0.28003	.	.	ENSG00000164743	ENST00000297324	T	0.31769	1.48	4.48	0.718	0.18202	.	1.090280	0.07286	N	0.871643	T	0.15825	0.0381	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27468	-1.0073	10	0.46703	T	0.11	-0.6127	6.3304	0.21266	0.0:0.5858:0.0:0.4142	.	27	Q96LL4	CH048_HUMAN	K	27	ENSP00000297324:N27K	ENSP00000297324:N27K	N	+	3	2	C8orf48	13468952	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.226000	0.17776	0.118000	0.18165	0.655000	0.94253	AAC		0.527	C8orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384400.1	NM_001007090	
TG	7038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	133953625	133953625	+	Missense_Mutation	SNP	C	C	T	rs375968742	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:133953625C>T	ENST00000220616.4	+	26	5111	c.5071C>T	c.(5071-5073)Cgc>Tgc	p.R1691C	TG_ENST00000542445.1_Intron|TG_ENST00000377869.1_Missense_Mutation_p.R1634C	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1691					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACTTCAGAAACGCTTTGAACC	0.463													A|||	7	0.00139776	0.0	0.0	5008	,	,		23317	0.0		0.0	False		,,,				2504	0.0072					.											0								A	CYS/ARG	1,4405		0,1,2202	150.0	133.0	139.0		5071	0.6	0.7	8		139	0,8600		0,0,4300	no	missense	TG	NM_003235.4	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	1691/2769	133953625	1,13005	2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5071C>T	8.37:g.133953625C>T	ENSP00000220616:p.Arg1691Cys	Somatic		WXS	Illumina HiSeq	Phase_I	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.189246	0.57909	2.27E-4	0.0	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616	T;T	0.64803	-0.12;-0.12	5.81	0.561	0.17285	.	0.450057	0.22625	N	0.057643	T	0.43055	0.1230	L	0.40543	1.245	0.24772	N	0.992862	P	0.40000	0.698	B	0.31547	0.132	T	0.33828	-0.9853	10	0.72032	D	0.01	.	5.9363	0.19167	0.4205:0.4254:0.1541:0.0	.	1691	P01266	THYG_HUMAN	C	1634;497;1691	ENSP00000367100:R1634C;ENSP00000220616:R1691C	ENSP00000220616:R1691C	R	+	1	0	TG	134022807	0.953000	0.32496	0.655000	0.29622	0.347000	0.29111	0.752000	0.26362	-0.381000	0.07882	-0.525000	0.04345	CGC		0.463	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
ZFAT	57623	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	135615108	135615108	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:135615108G>A	ENST00000377838.3	-	6	1028	c.854C>T	c.(853-855)tCg>tTg	p.S285L	ZFAT_ENST00000520727.1_Missense_Mutation_p.S273L|ZFAT_ENST00000429442.2_Missense_Mutation_p.S273L|ZFAT_ENST00000523399.1_Missense_Mutation_p.S223L|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520356.1_Missense_Mutation_p.S273L|ZFAT_ENST00000520214.1_Missense_Mutation_p.S273L	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	285					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GGCCTGCAGCGAGTGCTTGAA	0.507																																						.											0													99.0	101.0	100.0					8																	135615108		2001	4172	6173	SO:0001583	missense	57623			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.854C>T	8.37:g.135615108G>A	ENSP00000367069:p.Ser285Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	G	32	5.148713	0.94603	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19;3.19	6.04	6.04	0.98038	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.18676	0.0448	N	0.21373	0.66	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;P	0.91635	0.999;0.999;0.996;0.908	T	0.03852	-1.0998	10	0.29301	T	0.29	-11.6166	19.583	0.95478	0.0:0.0:1.0:0.0	.	223;273;273;285	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	L	273;273;273;285;273;273;223;273	ENSP00000427879:S273L;ENSP00000427831:S273L;ENSP00000394501:S273L;ENSP00000367069:S285L;ENSP00000428483:S273L;ENSP00000429091:S223L	ENSP00000326997:S273L	S	-	2	0	ZFAT	135684290	1.000000	0.71417	0.970000	0.41538	0.986000	0.74619	8.004000	0.88535	2.873000	0.98535	0.563000	0.77884	TCG		0.507	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939	
DENND3	22898	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	142178160	142178160	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:142178160C>T	ENST00000262585.2	+	13	1849	c.1571C>T	c.(1570-1572)cCg>cTg	p.P524L	DENND3_ENST00000424248.1_Missense_Mutation_p.P472L|DENND3_ENST00000519811.1_Missense_Mutation_p.P604L	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	524					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			ATCCACTTTCCGCTGGAGAGC	0.527																																						.											0													119.0	114.0	116.0					8																	142178160		2203	4300	6503	SO:0001583	missense	22898			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.1571C>T	8.37:g.142178160C>T	ENSP00000262585:p.Pro524Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854990	0.71719	.	.	ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811	T;T;T	0.18338	2.6;2.22;2.58	5.36	5.36	0.76844	.	0.270437	0.43110	D	0.000610	T	0.32376	0.0827	M	0.74881	2.28	0.80722	D	1	D;D;D	0.60160	0.979;0.987;0.979	P;P;P	0.48089	0.512;0.566;0.512	T	0.19192	-1.0313	10	0.87932	D	0	-7.7876	19.08	0.93178	0.0:1.0:0.0:0.0	.	604;472;524	E9PF32;A2RUS2-2;A2RUS2	.;.;DEND3_HUMAN	L	524;472;604	ENSP00000262585:P524L;ENSP00000410594:P472L;ENSP00000428714:P604L	ENSP00000262585:P524L	P	+	2	0	DENND3	142247342	1.000000	0.71417	0.895000	0.35142	0.237000	0.25408	6.606000	0.74159	2.513000	0.84729	0.462000	0.41574	CCG		0.527	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957	
JRK	8629	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	8	143746611	143746611	+	RNA	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:143746611C>T	ENST00000507178.2	-	0	1199							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				tgctgtcttccggcaaaccta	0.557																																						.											0													19.0	23.0	22.0					8																	143746611		1479	2859	4338			8629			AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"""jerky (mouse) homolog"", ""jerky homolog (mouse)"""			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143746611C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O75565	Silent	SNP	ENST00000507178.2	37																																																																																					0.557	JRK-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000362914.1	NM_003724	
MAPK15	225689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	144800421	144800421	+	Missense_Mutation	SNP	G	G	A	rs140275267		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:144800421G>A	ENST00000338033.4	+	4	354	c.235G>A	c.(235-237)Gtg>Atg	p.V79M	MAPK15_ENST00000395108.2_Missense_Mutation_p.V79M|MAPK15_ENST00000395107.4_Missense_Mutation_p.V79M|RP11-429J17.5_ENST00000527908.1_RNA	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	79	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCTCCTTGACGTGATCCGGGC	0.617																																						.											0													71.0	59.0	63.0					8																	144800421		2203	4300	6503	SO:0001583	missense	225689			AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"""Mitogen-activated protein kinase cascade / Kinases"""	24667	protein-coding gene	gene with protein product	"""extracellular signal regulated kinase 8"""					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.235G>A	8.37:g.144800421G>A	ENSP00000337691:p.Val79Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q2TCF9|Q8N362	Missense_Mutation	SNP	ENST00000338033.4	37	CCDS6409.2	.	.	.	.	.	.	.	.	.	.	g	17.45	3.391744	0.62066	.	.	ENSG00000181085	ENST00000338033;ENST00000395107;ENST00000395108	T;T;T	0.67171	-0.25;-0.25;-0.25	5.31	4.43	0.53597	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80989	0.4730	M	0.75447	2.3	0.58432	D	0.999991	D	0.89917	1.0	D	0.85130	0.997	D	0.83512	0.0081	10	0.87932	D	0	-6.6704	14.54	0.67987	0.0:0.1599:0.8401:0.0	.	79	Q8TD08	MK15_HUMAN	M	79	ENSP00000337691:V79M;ENSP00000378539:V79M;ENSP00000378540:V79M	ENSP00000337691:V79M	V	+	1	0	MAPK15	144872409	1.000000	0.71417	0.967000	0.41034	0.077000	0.17291	6.539000	0.73856	1.228000	0.43614	-0.416000	0.06073	GTG		0.617	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	NM_139021	
EPPK1	83481	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	144942815	144942815	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:144942815G>A	ENST00000525985.1	-	2	4678	c.4607C>T	c.(4606-4608)gCg>gTg	p.A1536V				P58107	EPIPL_HUMAN	epiplakin 1	1536						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GATCAGCTGCGCCCTGAACAG	0.652																																						.											0													18.0	19.0	19.0					8																	144942815		2077	4207	6284	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4607C>T	8.37:g.144942815G>A	ENSP00000436337:p.Ala1536Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37		.	.	.	.	.	.	.	.	.	.	G	14.69	2.611441	0.46631	.	.	ENSG00000227184	ENST00000525985	T	0.69435	-0.4	4.56	4.56	0.56223	.	.	.	.	.	T	0.54481	0.1861	L	0.36672	1.1	0.20074	N	0.999939	P	0.49862	0.929	B	0.35770	0.21	T	0.54248	-0.8322	9	0.49607	T	0.09	.	14.8833	0.70550	0.0:0.0:1.0:0.0	.	1536	E9PPU0	.	V	1536	ENSP00000436337:A1536V	ENSP00000436337:A1536V	A	-	2	0	EPPK1	145014803	0.229000	0.23729	0.010000	0.14722	0.547000	0.35210	2.624000	0.46444	2.361000	0.80049	0.591000	0.81541	GCG		0.652	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308	
PLEC	5339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	8	144995547	144995547	+	Silent	SNP	G	G	A	rs186703073	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:144995547G>A	ENST00000322810.4	-	32	9022	c.8853C>T	c.(8851-8853)ggC>ggT	p.G2951G	PLEC_ENST00000345136.3_Silent_p.G2814G|PLEC_ENST00000527096.1_Silent_p.G2837G|PLEC_ENST00000357649.2_Silent_p.G2818G|PLEC_ENST00000398774.2_Silent_p.G2782G|PLEC_ENST00000354589.3_Silent_p.G2814G|PLEC_ENST00000354958.2_Silent_p.G2792G|PLEC_ENST00000436759.2_Silent_p.G2841G|PLEC_ENST00000356346.3_Silent_p.G2800G	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2951	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGTCGATAACGCCGCCCGTGG	0.682													G|||	3	0.000599042	0.0	0.0014	5008	,	,		17217	0.001		0.001	False		,,,				2504	0.0					.											0								G	,,,,,,,	0,3998		0,0,1999	50.0	55.0	53.0		8523,8400,8376,8853,8346,8442,8454,8442	3.2	0.9	8		53	6,8288		0,6,4141	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	0,6,6140	AA,AG,GG		0.0723,0.0,0.0488	,,,,,,,	2841/4575,2800/4534,2792/4526,2951/4685,2782/4516,2814/4548,2818/4552,2814/4548	144995547	6,12286	1999	4147	6146	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8853C>T	8.37:g.144995547G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																				0.682	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
SPATC1	375686	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	145094825	145094825	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:145094825C>T	ENST00000377470.3	+	2	329	c.227C>T	c.(226-228)cCg>cTg	p.P76L	SPATC1_ENST00000447830.2_Missense_Mutation_p.P76L	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	76	Necessary for targeting centrosomes. {ECO:0000250}.					centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTCCTGCCCCCGTCCCCAGCA	0.627																																						.											0													68.0	74.0	72.0					8																	145094825		2203	4300	6503	SO:0001583	missense	375686			BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.227C>T	8.37:g.145094825C>T	ENSP00000366690:p.Pro76Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	ENST00000377470.3	37	CCDS6413.2	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658372	0.29425	.	.	ENSG00000186583	ENST00000377470;ENST00000447830	T;T	0.51817	0.69;0.69	5.05	2.79	0.32731	.	0.577983	0.15653	N	0.251268	T	0.54415	0.1857	M	0.66939	2.045	0.09310	N	1	D;B	0.67145	0.996;0.354	P;B	0.57548	0.823;0.025	T	0.46205	-0.9208	10	0.66056	D	0.02	-14.049	3.7743	0.08654	0.2336:0.6174:0.0:0.149	.	76;76	B4DWW9;Q76KD6	.;SPERI_HUMAN	L	76	ENSP00000366690:P76L;ENSP00000387613:P76L	ENSP00000366690:P76L	P	+	2	0	SPATC1	145166813	0.000000	0.05858	0.006000	0.13384	0.561000	0.35649	0.087000	0.14958	1.218000	0.43458	0.650000	0.86243	CCG		0.627	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572	
GPAA1	8733	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	8	145138659	145138659	+	Missense_Mutation	SNP	C	C	T	rs550126943		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:145138659C>T	ENST00000355091.4	+	4	530	c.409C>T	c.(409-411)Cgt>Tgt	p.R137C	GPAA1_ENST00000361036.6_Missense_Mutation_p.R77C|GPAA1_ENST00000527144.1_3'UTR	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	137					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCGGGCCCCGCGTGCTGCCAG	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		17087	0.001		0.0	False		,,,				2504	0.0					.											0													24.0	28.0	27.0					8																	145138659		2135	4234	6369	SO:0001583	missense	8733			AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.409C>T	8.37:g.145138659C>T	ENSP00000347206:p.Arg137Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NSS0|Q9UQ31	Missense_Mutation	SNP	ENST00000355091.4	37	CCDS43776.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152259	0.57259	.	.	ENSG00000197858	ENST00000355091;ENST00000361036;ENST00000524418	.	.	.	5.43	4.47	0.54385	.	0.056860	0.64402	D	0.000004	D	0.83529	0.5274	M	0.88979	2.995	0.49798	D	0.999822	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.978	D	0.86726	0.1945	9	0.87932	D	0	-14.242	14.4603	0.67445	0.1574:0.8426:0.0:0.0	.	137;77	O43292;O43292-2	GPAA1_HUMAN;.	C	137;77;137	.	ENSP00000347206:R137C	R	+	1	0	GPAA1	145210647	0.992000	0.36948	0.362000	0.25862	0.665000	0.39181	3.122000	0.50446	2.543000	0.85770	0.462000	0.41574	CGT		0.642	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1	NM_003801	
GPAA1	8733	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	8	145139221	145139221	+	Silent	SNP	G	G	A	rs189367473		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:145139221G>A	ENST00000355091.4	+	6	922	c.801G>A	c.(799-801)acG>acA	p.T267T	GPAA1_ENST00000361036.6_Silent_p.T207T|GPAA1_ENST00000527144.1_3'UTR	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	267					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTTGTGCACGCTTCAGGGCA	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		19669	0.001		0.0	False		,,,				2504	0.0					.											0													47.0	50.0	49.0					8																	145139221		2062	4196	6258	SO:0001819	synonymous_variant	8733			AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.801G>A	8.37:g.145139221G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q9NSS0|Q9UQ31	Silent	SNP	ENST00000355091.4	37	CCDS43776.1																																																																																				0.627	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1	NM_003801	
TONSL	4796	hgsc.bcm.edu;ucsc.edu	37	8	145668062	145668062	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:145668062C>T	ENST00000409379.3	-	5	605	c.576G>A	c.(574-576)gcG>gcA	p.A192A	AC084125.4_ENST00000442850.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	192					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GGCCTTACTCCGCAAGGAAGA	0.567																																						.											0													112.0	113.0	113.0					8																	145668062		2203	4300	6503	SO:0001819	synonymous_variant	4796				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.576G>A	8.37:g.145668062C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP	ENST00000409379.3	37	CCDS34968.2																																																																																				0.567	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432	
MTUS1	57509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	17503472	17503472	+	Missense_Mutation	SNP	G	G	A	rs148435996		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:17503472G>A	ENST00000262102.6	-	15	4000	c.3776C>T	c.(3775-3777)tCg>tTg	p.S1259L	MTUS1_ENST00000381861.3_Missense_Mutation_p.S506L|MTUS1_ENST00000519263.1_Missense_Mutation_p.S1205L|MTUS1_ENST00000544260.1_Missense_Mutation_p.S404L|MTUS1_ENST00000381869.3_Missense_Mutation_p.S1205L|MTUS1_ENST00000400046.1_Missense_Mutation_p.S331L|MTUS1_ENST00000297488.6_Missense_Mutation_p.S425L	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	1259					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GAAGGAGCCCGAATTCCTTGG	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		14747	0.0		0.001	False		,,,				2504	0.0					.											0													60.0	64.0	63.0					8																	17503472		1928	4138	6066	SO:0001583	missense	57509			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.3776C>T	8.37:g.17503472G>A	ENSP00000262102:p.Ser1259Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	CCDS43717.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.90	3.502973	0.64298	.	.	ENSG00000129422	ENST00000381869;ENST00000544260;ENST00000400046;ENST00000297488;ENST00000381861;ENST00000262102;ENST00000519263	T;T;T;T;T;T;T	0.25085	2.85;2.03;1.82;2.04;1.96;2.74;2.85	4.66	4.66	0.58398	.	0.106321	0.64402	D	0.000003	T	0.55114	0.1900	M	0.80028	2.48	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.996	T	0.61811	-0.6986	10	0.87932	D	0	-5.5731	18.1297	0.89597	0.0:0.0:1.0:0.0	.	1205;1259;506;425	Q9ULD2-2;Q9ULD2;Q9ULD2-6;Q9ULD2-3	.;MTUS1_HUMAN;.;.	L	1205;404;331;425;506;1259;1205	ENSP00000371293:S1205L;ENSP00000445738:S404L;ENSP00000382921:S331L;ENSP00000297488:S425L;ENSP00000371285:S506L;ENSP00000262102:S1259L;ENSP00000430167:S1205L	ENSP00000262102:S1259L	S	-	2	0	MTUS1	17547752	1.000000	0.71417	0.089000	0.20774	0.011000	0.07611	9.104000	0.94239	2.583000	0.87209	0.655000	0.94253	TCG		0.552	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031	
CSGALNACT1	55790	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	8	19363316	19363316	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:19363316C>T	ENST00000454498.2	-	4	1043	c.30G>A	c.(28-30)gcG>gcA	p.A10A	CSGALNACT1_ENST00000522854.1_Silent_p.A10A|CSGALNACT1_ENST00000332246.6_Silent_p.A10A|CSGALNACT1_ENST00000544602.1_Silent_p.A10A|CSGALNACT1_ENST00000311540.4_Silent_p.A10A	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	10					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GGGAAATCCACGCAAGCAGCC	0.607																																						.											0													101.0	106.0	104.0					8																	19363316		2203	4300	6503	SO:0001819	synonymous_variant	55790			AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.30G>A	8.37:g.19363316C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Silent	SNP	ENST00000454498.2	37	CCDS6010.1																																																																																				0.607	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371	
LZTS1	11178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	20110814	20110814	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:20110814C>T	ENST00000381569.1	-	3	985	c.628G>A	c.(628-630)Gcc>Acc	p.A210T	LZTS1_ENST00000522290.1_Missense_Mutation_p.A210T|LZTS1_ENST00000265801.6_Missense_Mutation_p.A210T			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	210					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		ATGTTGTGGGCGGAGCCCCCA	0.622																																						.											0													52.0	56.0	54.0					8																	20110814		2203	4300	6503	SO:0001583	missense	11178			AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.628G>A	8.37:g.20110814C>T	ENSP00000370981:p.Ala210Thr	Somatic		WXS	Illumina HiSeq	Phase_I	D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065170	0.76187	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.25085	2.14;2.14;1.82	5.93	5.93	0.95920	.	0.209202	0.48767	D	0.000164	T	0.38134	0.1029	L	0.29908	0.895	0.50313	D	0.999866	D;D	0.76494	0.999;0.998	D;P	0.64506	0.926;0.825	T	0.01819	-1.1267	10	0.23891	T	0.37	-32.7352	18.9076	0.92469	0.0:1.0:0.0:0.0	.	210;210	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	T	210	ENSP00000370981:A210T;ENSP00000265801:A210T;ENSP00000429263:A210T	ENSP00000265801:A210T	A	-	1	0	LZTS1	20155094	1.000000	0.71417	0.978000	0.43139	0.906000	0.53458	5.335000	0.65929	2.815000	0.96918	0.561000	0.74099	GCC		0.622	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020	
DMTN	2039	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	8	21924625	21924625	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:21924625C>T	ENST00000523266.1	+	3	510	c.48C>T	c.(46-48)agC>agT	p.S16S	DMTN_ENST00000415253.1_Silent_p.S16S|DMTN_ENST00000519907.1_Silent_p.S16S|DMTN_ENST00000517600.1_Intron|DMTN_ENST00000443491.2_Intron|DMTN_ENST00000358242.3_Silent_p.S16S|DMTN_ENST00000381470.3_Silent_p.S16S|DMTN_ENST00000523782.2_Intron|DMTN_ENST00000432128.1_Silent_p.S16S|DMTN_ENST00000265800.5_Silent_p.S16S	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	16					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										GGAGCGTGAGCCCCTCCCGAG	0.721																																						.											0													29.0	30.0	29.0					8																	21924625		2200	4299	6499	SO:0001819	synonymous_variant	2039			U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"""erythrocyte membrane protein band 4.9 (dematin)"""	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.48C>T	8.37:g.21924625C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Silent	SNP	ENST00000523266.1	37	CCDS6020.1																																																																																				0.721	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978	
HR	55806	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	21983099	21983099	+	Missense_Mutation	SNP	G	G	A	rs138624433		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:21983099G>A	ENST00000381418.4	-	4	3032	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	HR_ENST00000312841.8_Missense_Mutation_p.R518W	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	518					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)			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)		GCTCACCTCCGCACTTGCTGA	0.652																																						.											0								G	TRP/ARG,TRP/ARG	0,4398		0,0,2199	42.0	37.0	39.0		1552,1552	-0.2	0.0	8	dbSNP_134	39	2,8596	1.2+/-3.3	0,2,4297	yes	missense,missense	HR	NM_005144.4,NM_018411.4	101,101	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	518/1190,518/1135	21983099	2,12994	2199	4299	6498	SO:0001583	missense	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.1552C>T	8.37:g.21983099G>A	ENSP00000370826:p.Arg518Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458779	0.43634	0.0	2.33E-4	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.75260	-0.92;-0.91	5.39	-0.245	0.13027	.	1.146510	0.06485	N	0.733587	T	0.63450	0.2512	L	0.42245	1.32	0.09310	N	1	B;B	0.14438	0.002;0.01	B;B	0.04013	0.001;0.001	T	0.53344	-0.8452	10	0.87932	D	0	.	3.3279	0.07074	0.2786:0.0:0.4001:0.3213	.	518;518	O43593-2;O43593	.;HAIR_HUMAN	W	518	ENSP00000370826:R518W;ENSP00000326765:R518W	ENSP00000326765:R518W	R	-	1	2	HR	22039044	0.000000	0.05858	0.000000	0.03702	0.376000	0.30014	0.061000	0.14366	0.045000	0.15804	0.561000	0.74099	CGG		0.652	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1		
LGI3	203190	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	22012104	22012104	+	Missense_Mutation	SNP	C	C	T	rs375380959		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:22012104C>T	ENST00000306317.2	-	3	608	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	LGI3_ENST00000424267.2_Missense_Mutation_p.A107T	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	107					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CCTGTGAAGGCGTTGTCTCCA	0.582																																						.											0								C	THR/ALA	0,4406		0,0,2203	161.0	147.0	152.0		319	5.5	1.0	8		152	1,8599	1.2+/-3.3	0,1,4299	no	missense	LGI3	NM_139278.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	107/549	22012104	1,13005	2203	4300	6503	SO:0001583	missense	203190			AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.319G>A	8.37:g.22012104C>T	ENSP00000302297:p.Ala107Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A5PLP2|Q86TL4|Q8N296	Missense_Mutation	SNP	ENST00000306317.2	37	CCDS6025.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729823	0.89390	0.0	1.16E-4	ENSG00000168481	ENST00000306317;ENST00000424267;ENST00000517694	T;T;D	0.90620	0.2;0.32;-2.7	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.90844	0.7124	L	0.37697	1.125	0.47698	D	0.999499	D;D	0.71674	0.998;0.998	P;P	0.55749	0.783;0.783	D	0.91746	0.5408	10	0.87932	D	0	-25.6384	14.9559	0.71113	0.0:1.0:0.0:0.0	.	107;107	A5PLP2;Q8N145	.;LGI3_HUMAN	T	107;107;68	ENSP00000302297:A107T;ENSP00000399121:A107T;ENSP00000427817:A68T	ENSP00000302297:A107T	A	-	1	0	LGI3	22068049	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.399000	0.66314	2.611000	0.88343	0.655000	0.94253	GCC		0.582	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1		
R3HCC1	203069	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	8	23153579	23153579	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:23153579G>A	ENST00000411463.1	+	9	1412	c.1412G>A	c.(1411-1413)cGg>cAg	p.R471Q	R3HCC1_ENST00000518454.1_Missense_Mutation_p.R244Q|R3HCC1_ENST00000522012.1_3'UTR|R3HCC1_ENST00000265806.6_Missense_Mutation_p.R244Q			Q9Y3T6	R3HC1_HUMAN	R3H domain and coiled-coil containing 1	471							nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)			central_nervous_system(1)|skin(2)	3						AAGAAAGAGCGGCCTGCTGTC	0.657											OREG0018634	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													14.0	21.0	19.0					8																	23153579		692	1591	2283	SO:0001583	missense	203069				CCDS47826.1	8p21.3	2012-05-23		2005-11-20	ENSG00000104679	ENSG00000104679			27329	protein-coding gene	gene with protein product						12477932	Standard	XM_005273427		Approved	DKFZp564N123	uc003xdf.3	Q9Y3T6	OTTHUMG00000163786	ENST00000411463.1:c.1412G>A	8.37:g.23153579G>A	ENSP00000397555:p.Arg471Gln	Somatic	761	WXS	Illumina HiSeq	Phase_I	B7ZLI1	Missense_Mutation	SNP	ENST00000411463.1	37		.	.	.	.	.	.	.	.	.	.	G	16.29	3.080529	0.55753	.	.	ENSG00000104679	ENST00000518454;ENST00000265806;ENST00000411463	T;T;T	0.26518	1.73;1.73;2.34	5.92	3.59	0.41128	.	1.016030	0.07861	N	0.966334	T	0.19046	0.0457	L	0.36672	1.1	0.26137	N	0.980339	B	0.30709	0.291	B	0.15870	0.014	T	0.14448	-1.0472	10	0.32370	T	0.25	-8.811	8.5692	0.33558	0.0889:0.0:0.716:0.1951	.	471	Q9Y3T6	R3HC1_HUMAN	Q	244;244;471	ENSP00000430607:R244Q;ENSP00000265806:R244Q;ENSP00000397555:R471Q	ENSP00000265806:R244Q	R	+	2	0	R3HCC1	23209524	1.000000	0.71417	0.999000	0.59377	0.601000	0.36947	1.098000	0.31000	1.276000	0.44395	0.655000	0.94253	CGG		0.657	R3HCC1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001136108	
LOXL2	4017	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	8	23174480	23174480	+	Missense_Mutation	SNP	C	C	T	rs369018704		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:23174480C>T	ENST00000389131.3	-	9	1987	c.1618G>A	c.(1618-1620)Gga>Aga	p.G540R		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	540	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)	p.G540R(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CAGGCAACTCCGGCCCCGTAC	0.662																																						.											1	Substitution - Missense(1)	lung(1)						C	ARG/GLY	1,4403	2.1+/-5.4	0,1,2201	49.0	44.0	46.0		1618	5.2	1.0	8		46	0,8600		0,0,4300	no	missense	LOXL2	NM_002318.2	125	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	540/775	23174480	1,13003	2202	4300	6502	SO:0001583	missense	4017			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1618G>A	8.37:g.23174480C>T	ENSP00000373783:p.Gly540Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762976	0.89932	2.27E-4	0.0	ENSG00000134013	ENST00000389131	T	0.39406	1.08	5.15	5.15	0.70609	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	T	0.77698	0.4169	H	0.97291	3.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.86093	0.1551	10	0.87932	D	0	.	17.5716	0.87935	0.0:1.0:0.0:0.0	.	540;540	B2R5Q0;Q9Y4K0	.;LOXL2_HUMAN	R	540	ENSP00000373783:G540R	ENSP00000373783:G540R	G	-	1	0	LOXL2	23230425	1.000000	0.71417	0.993000	0.49108	0.638000	0.38207	7.810000	0.86072	2.562000	0.86427	0.655000	0.94253	GGA		0.662	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1		
CDCA2	157313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	8	25341585	25341585	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:25341585G>A	ENST00000330560.3	+	10	1701	c.1224G>A	c.(1222-1224)ttG>ttA	p.L408L	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Silent_p.L393L	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	408					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		ATGAATCTTTGCCAGCAAATA	0.433																																						.											0													90.0	88.0	88.0					8																	25341585		2203	4300	6503	SO:0001819	synonymous_variant	157313			BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.1224G>A	8.37:g.25341585G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Silent	SNP	ENST00000330560.3	37	CCDS6049.1																																																																																				0.433	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562	
DPYSL2	1808	broad.mit.edu;hgsc.bcm.edu	37	8	26513189	26513189	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:26513189C>T	ENST00000311151.5	+	14	2098	c.1686C>T	c.(1684-1686)ccC>ccT	p.P562P	DPYSL2_ENST00000521913.1_Silent_p.P526P|DPYSL2_ENST00000523027.1_Silent_p.P526P	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	562					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TGGCGCCCCCCGGTGGCCGTG	0.637											OREG0018659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													65.0	64.0	65.0					8																	26513189		2203	4299	6502	SO:0001819	synonymous_variant	1808			D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.1686C>T	8.37:g.26513189C>T		Somatic	787	WXS	Illumina HiSeq	Phase_I	A8K5H2|B4DR31|D3DSS7|O00424	Silent	SNP	ENST00000311151.5	37	CCDS6051.1																																																																																				0.637	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386	
GTF2E2	2961	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	8	30436512	30436512	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:30436512G>A	ENST00000355904.4	-	8	1084	c.802C>T	c.(802-804)Cga>Tga	p.R268*		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	268	Arg/Lys-rich (basic).				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIE complex (GO:0005673)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		TTAAAGCGTCGCTTTTTCTGT	0.453																																						.											0													163.0	156.0	159.0					8																	30436512		2203	4300	6503	SO:0001587	stop_gained	2961			BC030572	CCDS6078.1	8p12	2010-03-23	2002-08-29		ENSG00000197265	ENSG00000197265		"""General transcription factors"""	4651	protein-coding gene	gene with protein product		189964	"""general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"""			1956404	Standard	NM_002095		Approved	TFIIE-B, FE, TF2E2	uc003xig.3	P29084	OTTHUMG00000163934	ENST00000355904.4:c.802C>T	8.37:g.30436512G>A	ENSP00000348168:p.Arg268*	Somatic		WXS	Illumina HiSeq	Phase_I	D3DSV2|Q9H2B9	Nonsense_Mutation	SNP	ENST00000355904.4	37	CCDS6078.1	.	.	.	.	.	.	.	.	.	.	G	37	6.199703	0.97371	.	.	ENSG00000197265	ENST00000355904	.	.	.	5.62	2.66	0.31614	.	0.154150	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.1608	6.8209	0.23857	0.0815:0.0:0.4988:0.4197	.	.	.	.	X	268	.	ENSP00000348168:R268X	R	-	1	2	GTF2E2	30556054	1.000000	0.71417	0.988000	0.46212	0.939000	0.58152	4.482000	0.60257	0.834000	0.34852	-0.182000	0.12963	CGA		0.453	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376459.2	NM_002095	
BRF2	55290	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	37706116	37706116	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:37706116C>T	ENST00000220659.6	-	2	332	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	BRF2_ENST00000520601.1_Missense_Mutation_p.R71Q|BRF2_ENST00000521170.1_Missense_Mutation_p.R71Q	NM_018310.3	NP_060780.2	P47974	TISD_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	0					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			ATTCTCACCTCGTTGCTGGCT	0.453																																						.											0													272.0	230.0	245.0					8																	37706116		2203	4300	6503	SO:0001583	missense	55290			AF298153	CCDS6098.1	8p11.23	2013-05-29	2013-05-29		ENSG00000104221	ENSG00000104221			17298	protein-coding gene	gene with protein product		607013	"""BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like"""			11483580, 11564744	Standard	NM_018310		Approved	FLJ11052, BRFU, TFIIIB50	uc003xkk.3	Q9HAW0	OTTHUMG00000164025	ENST00000220659.6:c.212G>A	8.37:g.37706116C>T	ENSP00000220659:p.Arg71Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000220659.6	37	CCDS6098.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380363	0.82682	.	.	ENSG00000104221	ENST00000220659;ENST00000545765;ENST00000520601;ENST00000521170	.	.	.	5.91	4.14	0.48551	Cyclin-like (2);	0.262213	0.33813	N	0.004522	T	0.64000	0.2559	L	0.56769	1.78	0.37519	D	0.917441	D	0.76494	0.999	P	0.57548	0.823	T	0.65055	-0.6261	9	0.31617	T	0.26	.	10.1671	0.42886	0.0:0.845:0.0:0.155	.	71	Q9HAW0	BRF2_HUMAN	Q	71;48;71;71	.	ENSP00000220659:R71Q	R	-	2	0	BRF2	37825274	1.000000	0.71417	0.999000	0.59377	0.913000	0.54294	2.576000	0.46033	0.855000	0.35359	-0.136000	0.14681	CGA		0.453	BRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376811.2	NM_018310	
AP3M2	10947	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	8	42015607	42015607	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:42015607G>A	ENST00000518421.1	+	4	713	c.422G>A	c.(421-423)cGa>cAa	p.R141Q	AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000396926.3_Missense_Mutation_p.R141Q|AP3M2_ENST00000174653.3_Missense_Mutation_p.R141Q|AP3M2_ENST00000517922.1_Missense_Mutation_p.R141Q	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	141					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)		p.R141Q(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			ACCATCCTTCGAACGGTTGTC	0.468																																						.											1	Substitution - Missense(1)	large_intestine(1)											111.0	103.0	106.0					8																	42015607		2203	4300	6503	SO:0001583	missense	10947			D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718			570	protein-coding gene	gene with protein product		610469				7601449	Standard	NM_006803		Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.422G>A	8.37:g.42015607G>A	ENSP00000428787:p.Arg141Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B2RCR0|D3DSY2|Q7Z472	Missense_Mutation	SNP	ENST00000518421.1	37	CCDS6125.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535738	0.85812	.	.	ENSG00000070718	ENST00000518421;ENST00000174653;ENST00000396926;ENST00000521280;ENST00000517922;ENST00000517499	T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-0.99;-1.01	4.79	4.79	0.61399	Longin-like (1);	0.000000	0.85682	D	0.000000	T	0.71484	0.3345	L	0.52126	1.63	0.80722	D	1	B;P	0.48294	0.403;0.908	B;B	0.36378	0.042;0.223	T	0.76208	-0.3043	10	0.46703	T	0.11	-10.2754	18.2325	0.89938	0.0:0.0:1.0:0.0	.	141;141	E7ER80;P53677	.;AP3M2_HUMAN	Q	141;141;141;26;141;50	ENSP00000428787:R141Q;ENSP00000174653:R141Q;ENSP00000380132:R141Q;ENSP00000430616:R26Q;ENSP00000429435:R141Q	ENSP00000174653:R141Q	R	+	2	0	AP3M2	42134764	1.000000	0.71417	0.906000	0.35671	0.970000	0.65996	9.330000	0.96422	2.363000	0.80096	0.650000	0.86243	CGA		0.468	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1		
SLC20A2	6575	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	42296994	42296994	+	Missense_Mutation	SNP	G	G	A	rs200267443		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:42296994G>A	ENST00000342228.3	-	7	1277	c.908C>T	c.(907-909)gCg>gTg	p.A303V	SLC20A2_ENST00000520262.1_Missense_Mutation_p.A303V|SLC20A2_ENST00000520179.1_Missense_Mutation_p.A303V	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	303					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GTGGCTGCCCGCAGAAGTGCC	0.607																																						.											0													84.0	79.0	81.0					8																	42296994		2203	4300	6503	SO:0001583	missense	6575				CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"""Solute carriers"""	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.908C>T	8.37:g.42296994G>A	ENSP00000340465:p.Ala303Val	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000342228.3	37	CCDS6132.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.863931	0.32884	.	.	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179	D;D;D	0.90385	-2.66;-2.66;-2.66	5.79	-7.61	0.01299	.	1.703850	0.02716	N	0.113497	T	0.77110	0.4082	N	0.12637	0.245	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.65487	-0.6156	10	0.28530	T	0.3	-0.0518	3.4171	0.07380	0.5448:0.0863:0.2283:0.1405	.	303	Q08357	S20A2_HUMAN	V	303	ENSP00000340465:A303V;ENSP00000429754:A303V;ENSP00000429712:A303V	ENSP00000340465:A303V	A	-	2	0	SLC20A2	42416151	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.032000	0.13732	-1.243000	0.02519	-0.781000	0.03364	GCG		0.607	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1		
HOOK3	84376	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	8	42873507	42873507	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:42873507A>G	ENST00000307602.4	+	22	2223	c.2023A>G	c.(2023-2025)Acc>Gcc	p.T675A	RP11-598P20.5_ENST00000534420.1_5'Flank	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	675	Required for association with Golgi.|Required for interaction with MSR1.				cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GCAGGGAATGACCCTGCATAA	0.413			T	RET	papillary thyroid																																	.		Dom	yes		8	8p11.21	84376	hook homolog 3		E	0													65.0	64.0	64.0					8																	42873507		2203	4300	6503	SO:0001583	missense	84376			AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.2023A>G	8.37:g.42873507A>G	ENSP00000305699:p.Thr675Ala	Somatic		WXS	Illumina HiSeq	Phase_I	D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	A	0.531	-0.857910	0.02610	.	.	ENSG00000168172	ENST00000307602;ENST00000533539	T;T	0.16073	2.37;2.37	5.96	5.96	0.96718	.	0.183353	0.64402	D	0.000013	T	0.10723	0.0262	N	0.14661	0.345	0.43010	D	0.994546	B	0.12630	0.006	B	0.15052	0.012	T	0.12682	-1.0538	10	0.07644	T	0.81	-6.63	16.4484	0.83959	1.0:0.0:0.0:0.0	.	675	Q86VS8	HOOK3_HUMAN	A	675;153	ENSP00000305699:T675A;ENSP00000433953:T153A	ENSP00000305699:T675A	T	+	1	0	HOOK3	42992664	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.429000	0.59901	2.285000	0.76669	0.533000	0.62120	ACC		0.413	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410	
HGSNAT	138050	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	43052122	43052122	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:43052122G>A	ENST00000458501.2	+	15	1580	c.1580G>A	c.(1579-1581)cGg>cAg	p.R527Q	HGSNAT_ENST00000297798.7_Missense_Mutation_p.R231Q|HGSNAT_ENST00000521576.1_Missense_Mutation_p.R216Q|HGSNAT_ENST00000379644.4_Missense_Mutation_p.R499Q			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	527					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TACAAGGCTCGGACCAAAGAC	0.373																																						.											0													99.0	101.0	100.0					8																	43052122		1876	4112	5988	SO:0001583	missense	138050				CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.1580G>A	8.37:g.43052122G>A	ENSP00000389524:p.Arg527Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B4E2V0	Missense_Mutation	SNP	ENST00000458501.2	37		.	.	.	.	.	.	.	.	.	.	G	0.010	-1.751718	0.00663	.	.	ENSG00000165102	ENST00000458501;ENST00000379644;ENST00000521576;ENST00000297798	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	5.26	1.18	0.20946	.	0.788509	0.11879	N	0.520667	T	0.59569	0.2203	N	0.00621	-1.32	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.51795	-0.8660	10	0.08381	T	0.77	-1.9362	7.8652	0.29533	0.6653:0.0:0.3347:0.0	.	527	Q68CP4	HGNAT_HUMAN	Q	527;499;216;231	ENSP00000389524:R527Q;ENSP00000368965:R499Q;ENSP00000429029:R216Q;ENSP00000297798:R231Q	ENSP00000297798:R231Q	R	+	2	0	HGSNAT	43171279	0.990000	0.36364	0.946000	0.38457	0.021000	0.10359	0.726000	0.25984	-0.117000	0.11872	-1.851000	0.00568	CGG		0.373	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038	
OPRK1	4986	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	54147439	54147439	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:54147439C>T	ENST00000265572.3	-	3	787	c.490G>A	c.(490-492)Gtg>Atg	p.V164M	OPRK1_ENST00000520287.1_Missense_Mutation_p.V164M|OPRK1_ENST00000524278.1_Missense_Mutation_p.V75M|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	164					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	AAAGCCTTCACGGGGTGGCAC	0.488																																						.											0													116.0	95.0	102.0					8																	54147439		2203	4300	6503	SO:0001583	missense	4986				CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.490G>A	8.37:g.54147439C>T	ENSP00000265572:p.Val164Met	Somatic		WXS	Illumina HiSeq	Phase_I	E5RHC9|Q499G4	Missense_Mutation	SNP	ENST00000265572.3	37	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559329	0.86335	.	.	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	T;T;T	0.20463	2.07;2.07;2.07	5.95	5.95	0.96441	GPCR, rhodopsin-like superfamily (1);	0.051660	0.85682	D	0.000000	T	0.49847	0.1581	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.42430	-0.9452	10	0.66056	D	0.02	.	20.3732	0.98896	0.0:1.0:0.0:0.0	.	164	P41145	OPRK_HUMAN	M	164;75;164;150	ENSP00000265572:V164M;ENSP00000430923:V75M;ENSP00000429706:V164M	ENSP00000265572:V164M	V	-	1	0	OPRK1	54309992	1.000000	0.71417	0.988000	0.46212	0.995000	0.86356	5.936000	0.70153	2.809000	0.96659	0.650000	0.86243	GTG		0.488	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1		
NSMAF	8439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	59499082	59499082	+	Missense_Mutation	SNP	G	G	A	rs138530641		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:59499082G>A	ENST00000038176.3	-	28	2593	c.2381C>T	c.(2380-2382)aCg>aTg	p.T794M	NSMAF_ENST00000427130.2_Missense_Mutation_p.T825M	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	794					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TAAGGTGGCCGTTGTGAGGTC	0.408																																						.											0													207.0	179.0	188.0					8																	59499082		2203	4300	6503	SO:0001583	missense	8439			X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.2381C>T	8.37:g.59499082G>A	ENSP00000038176:p.Thr794Met	Somatic		WXS	Illumina HiSeq	Phase_I	B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	CCDS6173.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.95	3.920826	0.73213	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.34667	1.35;1.35	5.96	5.96	0.96718	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.147538	0.64402	D	0.000007	T	0.55940	0.1952	M	0.88377	2.95	0.24266	N	0.99526	D;P	0.63046	0.992;0.916	P;B	0.47015	0.534;0.346	T	0.60464	-0.7258	9	.	.	.	.	20.4043	0.99006	0.0:0.0:1.0:0.0	.	825;794	Q92636-2;Q92636	.;FAN_HUMAN	M	794;825	ENSP00000038176:T794M;ENSP00000411012:T825M	.	T	-	2	0	NSMAF	59661636	0.998000	0.40836	0.011000	0.14972	0.610000	0.37248	8.862000	0.92283	2.823000	0.97156	0.650000	0.86243	ACG		0.408	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580	
CHD7	55636	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	61766042	61766042	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:61766042A>G	ENST00000423902.2	+	31	7237	c.6758A>G	c.(6757-6759)gAg>gGg	p.E2253G	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2253	Glu-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAGTCGGAAGAGTCTTCCCAG	0.557																																						.											0													58.0	61.0	60.0					8																	61766042		2042	4164	6206	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.6758A>G	8.37:g.61766042A>G	ENSP00000392028:p.Glu2253Gly	Somatic		WXS	Illumina HiSeq	Phase_I	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	18.16	3.562718	0.65538	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.74315	-0.83	5.41	5.41	0.78517	.	0.060626	0.64402	D	0.000003	T	0.66674	0.2813	L	0.40543	1.245	0.45806	D	0.998687	P	0.39480	0.675	B	0.37144	0.242	T	0.67201	-0.5730	10	0.35671	T	0.21	-23.5408	15.463	0.75373	1.0:0.0:0.0:0.0	.	2253	Q9P2D1	CHD7_HUMAN	G	2253	ENSP00000392028:E2253G	ENSP00000307304:E2253G	E	+	2	0	CHD7	61928596	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.393000	0.90182	2.055000	0.61198	0.533000	0.62120	GAG		0.557	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762	
ZFHX4	79776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	77775707	77775707	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:77775707G>A	ENST00000521891.2	+	11	10205	c.9757G>A	c.(9757-9759)Gac>Aac	p.D3253N	ZFHX4_ENST00000518282.1_Missense_Mutation_p.D3227N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D3208N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D3204N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3204					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATTGCTGGTGACCCAGCTTC	0.458										HNSCC(33;0.089)																												.											0													163.0	155.0	157.0					8																	77775707		1899	4122	6021	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9757G>A	8.37:g.77775707G>A	ENSP00000430497:p.Asp3253Asn	Somatic		WXS	Illumina HiSeq	Phase_I	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987704	0.53934	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.58797	0.31;0.37;0.34;0.34	4.55	4.55	0.56014	.	0.000000	0.44688	U	0.000421	T	0.75339	0.3836	M	0.72894	2.215	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.78443	-0.2202	10	0.66056	D	0.02	.	17.8708	0.88810	0.0:0.0:1.0:0.0	.	3208	Q86UP3-4	.	N	3253;3237;3208;3204;3227	ENSP00000430497:D3253N;ENSP00000399605:D3208N;ENSP00000050961:D3204N;ENSP00000430848:D3227N	ENSP00000050961:D3204N	D	+	1	0	ZFHX4	77938262	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.715000	0.84713	2.525000	0.85131	0.561000	0.74099	GAC		0.458	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
IMPA1	3612	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	82571603	82571603	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:82571603G>A	ENST00000256108.5	-	9	1282	c.817C>T	c.(817-819)Cga>Tga	p.R273*	IMPA1_ENST00000311489.4_3'UTR|IMPA1_ENST00000449740.2_Nonsense_Mutation_p.R332*|IMPA1_ENST00000523710.1_5'Flank	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	273					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|inositol monophosphate phosphatase activity (GO:0052834)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	TCGTCGTCTCGTTGCAAAGGT	0.378																																						.											0													154.0	145.0	148.0					8																	82571603		2203	4300	6503	SO:0001587	stop_gained	3612				CCDS6231.1, CCDS47883.1, CCDS47884.1	8q21.1-q21.3	2008-01-28			ENSG00000133731	ENSG00000133731	3.1.3.25		6050	protein-coding gene	gene with protein product		602064		IMPA		1377913	Standard	NM_005536		Approved		uc011lfq.1	P29218	OTTHUMG00000164682	ENST00000256108.5:c.817C>T	8.37:g.82571603G>A	ENSP00000256108:p.Arg273*	Somatic		WXS	Illumina HiSeq	Phase_I	B2R733|B4DLN3|B7Z6Q4|J3KQT7|Q9UK71	Nonsense_Mutation	SNP	ENST00000256108.5	37	CCDS6231.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550978	0.45383	.	.	ENSG00000133731	ENST00000256108;ENST00000449740	.	.	.	5.03	1.01	0.19927	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.37532	D	0.91796	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1317	14.7679	0.69654	0.0:0.0:0.5226:0.4774	.	.	.	.	X	273;332	.	ENSP00000256108:R273X	R	-	1	2	IMPA1	82734158	0.424000	0.25490	0.965000	0.40720	0.445000	0.32107	0.749000	0.26320	0.270000	0.21984	0.643000	0.83706	CGA		0.378	IMPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379723.1		
DECR1	1666	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	91029431	91029431	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:91029431C>T	ENST00000220764.2	+	2	237	c.149C>T	c.(148-150)gCg>gTg	p.A50V	DECR1_ENST00000522161.1_Missense_Mutation_p.A41V|DECR1_ENST00000519007.1_3'UTR	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	50					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CTTCAAAAAGCGATGCTACCA	0.373																																						.											0													87.0	90.0	89.0					8																	91029431		2203	4300	6503	SO:0001583	missense	1666			L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2753	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 18C, member 1"""	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	ENST00000220764.2:c.149C>T	8.37:g.91029431C>T	ENSP00000220764:p.Ala50Val	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z6B8|Q2M304|Q93085	Missense_Mutation	SNP	ENST00000220764.2	37	CCDS6250.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066121	0.55539	.	.	ENSG00000104325	ENST00000220764;ENST00000519410;ENST00000522161;ENST00000517761	D;D;D;D	0.85484	-1.78;-1.99;-1.89;-1.94	5.88	-1.48	0.08745	.	0.894138	0.09830	N	0.750295	T	0.61739	0.2371	N	0.02225	-0.63	0.20764	N	0.999859	B;B	0.09022	0.002;0.0	B;B	0.01281	0.0;0.0	T	0.49224	-0.8962	10	0.07813	T	0.8	.	11.1284	0.48333	0.0:0.3047:0.0:0.6953	.	41;50	B7Z6B8;Q16698	.;DECR_HUMAN	V	50;28;41;41	ENSP00000220764:A50V;ENSP00000430561:A28V;ENSP00000429779:A41V;ENSP00000427936:A41V	ENSP00000220764:A50V	A	+	2	0	DECR1	91098607	0.000000	0.05858	0.639000	0.29394	0.890000	0.51754	-0.171000	0.09883	-0.145000	0.11294	0.655000	0.94253	GCG		0.373	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375822.1		
KIAA1429	25962	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	95541376	95541376	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:95541376G>A	ENST00000297591.5	-	7	877	c.802C>T	c.(802-804)Cga>Tga	p.R268*	KIAA1429_ENST00000421249.2_Nonsense_Mutation_p.R268*|KIAA1429_ENST00000437199.1_Nonsense_Mutation_p.R268*	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	268	Glu-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ACTGTTCGTCGATCATCCTCA	0.438																																						.											0													481.0	365.0	404.0					8																	95541376		2203	4300	6503	SO:0001587	stop_gained	25962			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.802C>T	8.37:g.95541376G>A	ENSP00000297591:p.Arg268*	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Nonsense_Mutation	SNP	ENST00000297591.5	37	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274705	0.59649	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	.	.	.	5.23	2.08	0.27032	.	0.680837	0.15074	N	0.282015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-2.3219	3.9535	0.09379	0.0992:0.3855:0.3966:0.1187	.	.	.	.	X	268	.	ENSP00000297591:R268X	R	-	1	2	KIAA1429	95610552	0.997000	0.39634	0.986000	0.45419	0.463000	0.32649	3.068000	0.50018	0.674000	0.31244	-0.230000	0.12252	CGA		0.438	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496	
MATN2	4147	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	98943420	98943420	+	Missense_Mutation	SNP	C	C	T	rs377009254		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:98943420C>T	ENST00000520016.1	+	2	506	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W	MATN2_ENST00000524308.1_Missense_Mutation_p.R128W|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000521689.1_Missense_Mutation_p.R128W|MATN2_ENST00000254898.5_Missense_Mutation_p.R128W			O00339	MATN2_HUMAN	matrilin 2	128	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.R128W(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CAAGAGGATGCGGCATCTGTC	0.587																																						.											1	Substitution - Missense(1)	large_intestine(1)						C	TRP/ARG,TRP/ARG	1,4261		0,1,2130	55.0	60.0	59.0		382,382	0.8	1.0	8		59	0,8508		0,0,4254	no	missense,missense	MATN2	NM_002380.3,NM_030583.2	101,101	0,1,6384	TT,TC,CC		0.0,0.0235,0.0078	probably-damaging,probably-damaging	128/957,128/938	98943420	1,12769	2131	4254	6385	SO:0001583	missense	4147			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.382C>T	8.37:g.98943420C>T	ENSP00000430487:p.Arg128Trp	Somatic		WXS	Illumina HiSeq	Phase_I	A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827179	0.71143	2.35E-4	0.0	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.97	0.813	0.18749	von Willebrand factor, type A (3);	0.081678	0.51477	D	0.000095	D	0.83594	0.5288	L	0.59436	1.845	0.31865	N	0.620505	D;D;D;D	0.89917	0.999;0.998;1.0;0.999	D;D;D;P	0.64877	0.93;0.921;0.91;0.873	D	0.85514	0.1199	10	0.59425	D	0.04	-22.3411	15.5484	0.76126	0.4575:0.5425:0.0:0.0	.	128;128;128;128	E9PF03;O00339-2;O00339;Q8N2G3	.;.;MATN2_HUMAN;.	W	128	ENSP00000429977:R128W;ENSP00000254898:R128W;ENSP00000430221:R128W;ENSP00000430487:R128W	ENSP00000254898:R128W	R	+	1	2	MATN2	99012596	0.996000	0.38824	0.998000	0.56505	0.997000	0.91878	0.484000	0.22308	-0.083000	0.12618	0.655000	0.94253	CGG		0.587	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1		
RPL8	6132	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	8	146015277	146015277	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:146015277G>A	ENST00000262584.3	-	6	918	c.686C>T	c.(685-687)gCc>gTc	p.A229V	RPL8_ENST00000529163.1_5'UTR|RPL8_ENST00000394920.2_Missense_Mutation_p.A229V|RPL8_ENST00000527914.1_Missense_Mutation_p.A120V|RPL8_ENST00000528957.1_Missense_Mutation_p.A229V|ZNF34_ENST00000343459.4_5'Flank|ZNF34_ENST00000429371.2_5'Flank	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	229					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		GCCAGCAGGGGCATCTCTGCG	0.592																																						.											0													108.0	109.0	109.0					8																	146015277		2203	4300	6503	SO:0001583	missense	6132			Z28407	CCDS6433.1	8q24.3	2011-04-06			ENSG00000161016	ENSG00000161016		"""L ribosomal proteins"""	10368	protein-coding gene	gene with protein product		604177				7506540, 9582194	Standard	NM_033301		Approved	L8	uc003zec.3	P62917	OTTHUMG00000165249	ENST00000262584.3:c.686C>T	8.37:g.146015277G>A	ENSP00000262584:p.Ala229Val	Somatic		WXS	Illumina HiSeq	Phase_I	A8K094|D3DWN2|P25120|Q567Q7|Q969V7|Q9BWQ9	Missense_Mutation	SNP	ENST00000262584.3	37	CCDS6433.1	.	.	.	.	.	.	.	.	.	.	G	33	5.289544	0.95517	.	.	ENSG00000161016	ENST00000394920;ENST00000527914;ENST00000262584;ENST00000534813;ENST00000533397	D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78	4.85	4.85	0.62838	Translation protein SH3-like (1);Ribosomal protein L2, domain 3 (1);Ribosomal protein L2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97892	0.9307	H	0.96239	3.79	0.80722	D	1	P;B	0.35714	0.517;0.026	P;B	0.48114	0.567;0.014	D	0.99552	1.0966	10	0.72032	D	0.01	-16.033	15.8928	0.79312	0.0:0.0:1.0:0.0	.	229;193	P62917;E9PIZ3	RL8_HUMAN;.	V	229;120;229;193;208	ENSP00000378378:A229V;ENSP00000436460:A120V;ENSP00000262584:A229V;ENSP00000435313:A208V	ENSP00000262584:A229V	A	-	2	0	RPL8	145986081	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.425000	0.90270	2.422000	0.82143	0.555000	0.69702	GCC		0.592	RPL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382948.1	NM_000973	
RGS3	5998	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	116353631	116353631	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:116353631G>A	ENST00000374140.2	+	22	3243	c.3034G>A	c.(3034-3036)Gtt>Att	p.V1012I	RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000462143.1_Missense_Mutation_p.V333I|RGS3_ENST00000394646.3_Missense_Mutation_p.V405I|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462403.1_5'Flank|RGS3_ENST00000350696.5_Missense_Mutation_p.V1012I|RGS3_ENST00000343817.5_Missense_Mutation_p.V731I|RGS3_ENST00000374134.3_Missense_Mutation_p.V333I	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1012					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGCTGACACCGTTGGGGATGA	0.572																																						.											0													99.0	89.0	92.0					9																	116353631		2203	4300	6503	SO:0001583	missense	5998			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3034G>A	9.37:g.116353631G>A	ENSP00000363255:p.Val1012Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	6.794	0.515463	0.12944	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000394646;ENST00000474719;ENST00000462143;ENST00000374134;ENST00000467805	T;T;T;T;T;T;T	0.76709	0.95;0.95;0.45;2.55;0.44;0.44;-1.04	4.53	2.27	0.28462	.	0.435553	0.19907	N	0.103365	T	0.54631	0.1870	N	0.22421	0.69	0.09310	N	1	P;B;B;P;B;B;B	0.35700	0.516;0.002;0.335;0.516;0.335;0.226;0.342	B;B;B;B;B;B;B	0.22386	0.039;0.0;0.038;0.039;0.014;0.028;0.028	T	0.45716	-0.9242	10	0.38643	T	0.18	.	5.2355	0.15445	0.1607:0.2259:0.6134:0.0	.	351;405;908;333;731;902;1012	B4DWF9;B3KUB2;P49796-6;Q6ZV17;P49796-4;B3KWG8;P49796	.;.;.;.;.;.;RGS3_HUMAN	I	1012;1012;731;405;180;333;333;178	ENSP00000363255:V1012I;ENSP00000259406:V1012I;ENSP00000340284:V731I;ENSP00000378141:V405I;ENSP00000420356:V333I;ENSP00000363249:V333I;ENSP00000417994:V178I	ENSP00000340284:V731I	V	+	1	0	RGS3	115393452	0.601000	0.26907	0.009000	0.14445	0.046000	0.14306	1.485000	0.35519	0.865000	0.35603	0.555000	0.69702	GTT		0.572	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790	
ZNF618	114991	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	116812166	116812166	+	Missense_Mutation	SNP	G	G	A	rs372290471		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:116812166G>A	ENST00000374126.5	+	15	2683	c.2584G>A	c.(2584-2586)Gca>Aca	p.A862T	ZNF618_ENST00000288466.7_Missense_Mutation_p.A769T|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	862					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CGAGAACCCCGCAGCTCAGGA	0.597																																						.											0								G	THR/ALA	1,3961		0,1,1980	74.0	81.0	79.0		2305	-8.4	0.0	9		79	0,8282		0,0,4141	no	missense	ZNF618	NM_133374.2	58	0,1,6121	AA,AG,GG		0.0,0.0252,0.0082	benign	769/862	116812166	1,12243	1981	4141	6122	SO:0001583	missense	114991			BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.2584G>A	9.37:g.116812166G>A	ENSP00000363241:p.Ala862Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37		.	.	.	.	.	.	.	.	.	.	G	4.045	0.006041	0.07866	2.52E-4	0.0	ENSG00000157657	ENST00000374126;ENST00000288466	T;T	0.22743	1.94;1.94	5.63	-8.45	0.00946	Ribonuclease H-like (1);	0.899482	0.09826	N	0.750823	T	0.06462	0.0166	.	.	.	0.09310	N	0.99999	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.36335	-0.9752	9	0.11485	T	0.65	0.0314	4.7216	0.12920	0.4829:0.1097:0.3256:0.0818	.	829;862;769	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	T	862;769	ENSP00000363241:A862T;ENSP00000288466:A769T	ENSP00000288466:A769T	A	+	1	0	ZNF618	115851987	0.000000	0.05858	0.001000	0.08648	0.390000	0.30446	-1.955000	0.01523	-1.088000	0.03077	-0.997000	0.02515	GCA		0.597	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983	
TNC	3371	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	117797539	117797539	+	Missense_Mutation	SNP	G	G	A	rs148674204	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:117797539G>A	ENST00000350763.4	-	22	6142	c.5731C>T	c.(5731-5733)Cgg>Tgg	p.R1911W	TNC_ENST00000345230.3_Missense_Mutation_p.R1274W|TNC_ENST00000423613.2_Missense_Mutation_p.R1638W|TNC_ENST00000346706.3_Missense_Mutation_p.R1365W|TNC_ENST00000537320.1_Missense_Mutation_p.R1274W|TNC_ENST00000535648.1_Missense_Mutation_p.R1456W|TNC_ENST00000341037.4_Missense_Mutation_p.R1729W|TNC_ENST00000542877.1_Missense_Mutation_p.R1548W|TNC_ENST00000340094.3_Missense_Mutation_p.R1547W	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1911	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACTGATGCCCGGGGGGGTCGC	0.478																																						.											0								G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	81.0	83.0	82.0		5731	4.0	0.7	9	dbSNP_134	82	4,8596	3.7+/-12.6	0,4,4296	yes	missense	TNC	NM_002160.3	101	0,6,6497	AA,AG,GG		0.0465,0.0454,0.0461	probably-damaging	1911/2202	117797539	6,13000	2203	4300	6503	SO:0001583	missense	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5731C>T	9.37:g.117797539G>A	ENSP00000265131:p.Arg1911Trp	Somatic		WXS	Illumina HiSeq	Phase_I	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.03|17.03	3.283309|3.283309	0.59867|0.59867	4.54E-4|4.54E-4	4.65E-4|4.65E-4	ENSG00000041982|ENSG00000041982	ENST00000544972|ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T|T;T;T;T;T;T;T;T;T	0.74315|0.57907	-0.83|0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37	5.97|5.97	4.02|4.02	0.46733|0.46733	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.239042	.|0.41823	.|D	.|0.000804	T|T	0.74427|0.74427	0.3715|0.3715	M|M	0.84948|0.84948	2.725|2.725	0.09310|0.09310	N|N	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.995;0.997	T|T	0.69643|0.69643	-0.5090|-0.5090	7|10	0.72032|0.72032	D|D	0.01|0.01	.|.	14.1271|14.1271	0.65228|0.65228	0.0:0.0:0.5477:0.4523|0.0:0.0:0.5477:0.4523	.|.	.|1638;1911	.|E9PC84;P24821	.|.;TENA_HUMAN	L|W	473|1547;1456;1365;1274;1911;983;1729;1638;1274;1548	ENSP00000445380:P473L|ENSP00000344400:R1547W;ENSP00000438152:R1456W;ENSP00000344555:R1365W;ENSP00000345861:R1274W;ENSP00000265131:R1911W;ENSP00000339553:R1729W;ENSP00000411406:R1638W;ENSP00000443478:R1274W;ENSP00000442242:R1548W	ENSP00000445380:P473L|ENSP00000344400:R1547W	P|R	-|-	2|1	0|2	TNC|TNC	116837360|116837360	0.749000|0.749000	0.28305|0.28305	0.706000|0.706000	0.30403|0.30403	0.778000|0.778000	0.44026|0.44026	2.922000|2.922000	0.48860|0.48860	0.693000|0.693000	0.31634|0.31634	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.478	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160	
BRINP1	1620	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	122001025	122001025	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:122001025C>T	ENST00000265922.3	-	5	1054	c.593G>A	c.(592-594)cGc>cAc	p.R198H	BRINP1_ENST00000373964.2_Missense_Mutation_p.R198H	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	198	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											AGGCCCAGTGCGTGTCTCTGT	0.507																																						.											0													106.0	78.0	88.0					9																	122001025		2203	4300	6503	SO:0001583	missense	1620			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.593G>A	9.37:g.122001025C>T	ENSP00000265922:p.Arg198His	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	35	5.458407	0.96240	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	T;T	0.55930	2.14;0.49	5.91	5.91	0.95273	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.71921	0.3397	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.991;0.995	T	0.72629	-0.4235	10	0.87932	D	0	-21.6133	19.2777	0.94039	0.0:1.0:0.0:0.0	.	198;198	O60477-2;O60477	.;DBC1_HUMAN	H	198	ENSP00000265922:R198H;ENSP00000363075:R198H	ENSP00000265922:R198H	R	-	2	0	DBC1	121040846	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.625000	0.83145	2.794000	0.96219	0.655000	0.94253	CGC		0.507	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618	
RABEPK	10244	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	9	127975736	127975736	+	Missense_Mutation	SNP	G	G	A	rs147509125		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:127975736G>A	ENST00000373538.3	+	4	609	c.299G>A	c.(298-300)cGt>cAt	p.R100H	RABEPK_ENST00000394125.4_Missense_Mutation_p.R100H|RABEPK_ENST00000259460.8_Intron|RABEPK_ENST00000373544.1_Missense_Mutation_p.R100H|RABEPK_ENST00000394124.4_Missense_Mutation_p.R100H	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	100					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						ACACCTGACCGTATCTGGGTA	0.448																																						.											0								G	HIS/ARG,,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	131.0	119.0	123.0		299,,299	1.5	0.2	9	dbSNP_134	123	0,8600		0,0,4300	no	missense,intron,missense	RABEPK	NM_001174152.1,NM_001174153.1,NM_005833.3	29,,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,,benign	100/373,,100/373	127975736	2,13004	2203	4300	6503	SO:0001583	missense	10244			BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.299G>A	9.37:g.127975736G>A	ENSP00000362639:p.Arg100His	Somatic		WXS	Illumina HiSeq	Phase_I	A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Missense_Mutation	SNP	ENST00000373538.3	37	CCDS6862.1	.	.	.	.	.	.	.	.	.	.	G	4.987	0.183381	0.09495	4.54E-4	0.0	ENSG00000136933	ENST00000394125;ENST00000373544;ENST00000394124;ENST00000373538;ENST00000416065	T;T;T;T;T	0.68181	0.84;-0.31;-0.31;0.84;0.84	5.47	1.49	0.22878	Galactose oxidase, beta-propeller (1);	0.429767	0.29403	N	0.012242	T	0.54532	0.1864	L	0.52206	1.635	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.43798	-0.9369	10	0.40728	T	0.16	-0.2788	6.7011	0.23225	0.2233:0.254:0.5227:0.0	.	100;100	Q7Z6M1;Q5T1S4	RABEK_HUMAN;.	H	100;100;100;100;183	ENSP00000377683:R100H;ENSP00000362645:R100H;ENSP00000377682:R100H;ENSP00000362639:R100H;ENSP00000402234:R183H	ENSP00000362639:R100H	R	+	2	0	RABEPK	127015557	1.000000	0.71417	0.195000	0.23364	0.047000	0.14425	1.514000	0.35834	-0.185000	0.10550	-2.511000	0.00188	CGT		0.448	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1	NM_005833	
ZBTB34	403341	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	129642636	129642636	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:129642636C>T	ENST00000373452.2	+	1	1010	c.946C>T	c.(946-948)Cga>Tga	p.R316*	ZBTB34_ENST00000319119.4_Nonsense_Mutation_p.R320*			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	316					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						GAGCTGTTTCCGAGGAGGGCG	0.547																																						.											0													35.0	37.0	37.0					9																	129642636		1968	4143	6111	SO:0001587	stop_gained	403341			DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.946C>T	9.37:g.129642636C>T	ENSP00000362551:p.Arg316*	Somatic		WXS	Illumina HiSeq	Phase_I	Q38IA7|Q5VYE9	Nonsense_Mutation	SNP	ENST00000373452.2	37	CCDS48023.1	.	.	.	.	.	.	.	.	.	.	C	36	5.867591	0.97043	.	.	ENSG00000177125	ENST00000319119;ENST00000373452	.	.	.	5.78	4.83	0.62350	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	14.1263	0.65222	0.2213:0.7787:0.0:0.0	.	.	.	.	X	320;316	.	ENSP00000317534:R320X	R	+	1	2	ZBTB34	128682457	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.814000	0.48010	2.731000	0.93534	0.655000	0.94253	CGA		0.547	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001099270	
ANGPTL2	23452	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	9	129870870	129870870	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:129870870C>T	ENST00000373425.3	-	2	758	c.141G>A	c.(139-141)gcG>gcA	p.A47A	ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000491991.1_5'Flank|RALGPS1_ENST00000373436.1_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	47					multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						GGGACTCGCCCGCCCGCTTGT	0.602																																						.											0													76.0	61.0	66.0					9																	129870870		2203	4300	6503	SO:0001819	synonymous_variant	23452			AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"""Fibrinogen C domain containing"""	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.141G>A	9.37:g.129870870C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5JT58|Q8NCH7	Silent	SNP	ENST00000373425.3	37	CCDS6868.1																																																																																				0.602	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098	
SLC2A8	29988	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	130167788	130167788	+	Missense_Mutation	SNP	G	G	A	rs201045999	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:130167788G>A	ENST00000373371.3	+	9	1329	c.1240G>A	c.(1240-1242)Gtc>Atc	p.V414I	SLC2A8_ENST00000373360.3_Intron|SLC2A8_ENST00000373352.1_Missense_Mutation_p.V151I	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	414					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						AGGCATCTGCGTCCTCACCAA	0.632													G|||	18	0.00359425	0.0	0.0	5008	,	,		22112	0.0		0.0	False		,,,				2504	0.0184					.											0													123.0	91.0	101.0					9																	130167788		2202	4300	6502	SO:0001583	missense	29988			AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"""Solute carriers"""	13812	protein-coding gene	gene with protein product		605245	"""solute carrier family 2 (facilitated glucose transporter) member 8"""			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.1240G>A	9.37:g.130167788G>A	ENSP00000362469:p.Val414Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q8WUZ9|Q9NSC4	Missense_Mutation	SNP	ENST00000373371.3	37	CCDS6870.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399352	0.83120	.	.	ENSG00000136856	ENST00000373371;ENST00000451404;ENST00000373352;ENST00000430147	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.35	5.35	0.76521	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.056140	0.64402	D	0.000001	D	0.84406	0.5465	L	0.58302	1.8	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84562	0.0650	10	0.54805	T	0.06	.	18.1845	0.89789	0.0:0.0:1.0:0.0	.	414	Q9NY64	GTR8_HUMAN	I	414;251;151;253	ENSP00000362469:V414I;ENSP00000392434:V251I;ENSP00000362450:V151I;ENSP00000391213:V253I	ENSP00000362450:V151I	V	+	1	0	SLC2A8	129207609	1.000000	0.71417	0.974000	0.42286	0.484000	0.33280	9.349000	0.97066	2.674000	0.91012	0.655000	0.94253	GTC		0.632	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1	NM_014580	
FPGS	2356	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	9	130569287	130569287	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:130569287G>A	ENST00000373247.2	+	5	472	c.422G>A	c.(421-423)cGc>cAc	p.R141H	FPGS_ENST00000373225.3_Missense_Mutation_p.R91H|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373245.1_Missense_Mutation_p.R141H|FPGS_ENST00000393706.2_Missense_Mutation_p.R141H	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	141					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	GAGCGGATCCGCATCAATGGG	0.652																																						.											0													90.0	87.0	88.0					9																	130569287		2203	4300	6503	SO:0001583	missense	2356				CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.422G>A	9.37:g.130569287G>A	ENSP00000362344:p.Arg141His	Somatic		WXS	Illumina HiSeq	Phase_I	B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	37	CCDS35148.1	.	.	.	.	.	.	.	.	.	.	g	35	5.448987	0.96205	.	.	ENSG00000136877	ENST00000373247;ENST00000373245;ENST00000393706;ENST00000373228;ENST00000373225;ENST00000431857;ENST00000423577	T;T;T;T;T	0.38077	2.5;1.16;2.47;1.16;2.1	5.45	5.45	0.79879	Mur ligase, central (2);	0.000000	0.85682	D	0.000000	T	0.70937	0.3281	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.79313	-0.1855	10	0.87932	D	0	-0.0707	17.882	0.88843	0.0:0.0:1.0:0.0	.	141;141	Q05932-4;Q05932	.;FOLC_HUMAN	H	141;141;141;141;91;91;91	ENSP00000362344:R141H;ENSP00000362342:R141H;ENSP00000377309:R141H;ENSP00000362325:R141H;ENSP00000362322:R91H	ENSP00000362322:R91H	R	+	2	0	FPGS	129609108	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.637000	0.98443	2.582000	0.87167	0.450000	0.29827	CGC		0.652	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1		
PIP5KL1	138429	hgsc.bcm.edu;ucsc.edu	37	9	130684387	130684387	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:130684387C>T	ENST00000388747.4	-	10	968	c.924G>A	c.(922-924)gtG>gtA	p.V308V	PIP5KL1_ENST00000300432.3_Silent_p.V105V	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	308	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						GTGCCCCTTGCACAGACCTGG	0.701																																						.											0													10.0	12.0	12.0					9																	130684387		2129	4201	6330	SO:0001819	synonymous_variant	138429			BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.924G>A	9.37:g.130684387C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8IVS3	Silent	SNP	ENST00000388747.4	37	CCDS48030.1																																																																																				0.701	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054289.2	NM_173492	
GOLGA2	2801	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	9	131023004	131023004	+	Missense_Mutation	SNP	G	G	A	rs376675493		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:131023004G>A	ENST00000421699.2	-	17	1429	c.1417C>T	c.(1417-1419)Cgg>Tgg	p.R473W	GOLGA2_ENST00000609374.1_Missense_Mutation_p.R461W|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	473					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						AGCTCCTTCCGCAGGTGCTCA	0.637																																						.											0													21.0	24.0	23.0					9																	131023004		2203	4300	6503	SO:0001583	missense	2801			L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.1417C>T	9.37:g.131023004G>A	ENSP00000416097:p.Arg473Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	g	36	5.620943	0.96660	.	.	ENSG00000167110	ENST00000421699	T	0.24723	1.84	5.3	5.3	0.74995	.	0.303264	0.36815	N	0.002390	T	0.37073	0.0990	M	0.63843	1.955	0.33982	D	0.64812	D	0.56521	0.976	P	0.46975	0.533	T	0.55692	-0.8101	10	0.87932	D	0	.	18.9624	0.92681	0.0:0.0:1.0:0.0	.	473	Q08379	GOGA2_HUMAN	W	473	ENSP00000416097:R473W	ENSP00000416097:R473W	R	-	1	2	GOLGA2	130062825	0.990000	0.36364	0.028000	0.17463	0.807000	0.45602	6.781000	0.75068	2.482000	0.83794	0.305000	0.20034	CGG		0.637	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486	
SPTAN1	6709	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	131329101	131329101	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:131329101C>T	ENST00000372731.4	+	2	192	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C	SPTAN1_ENST00000372739.3_Missense_Mutation_p.R28C|SPTAN1_ENST00000358161.5_Missense_Mutation_p.R28C	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	28					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCGATACCACCGCTTCAAGGA	0.488																																					NSCLC(120;833 1744 2558 35612 37579)	.											0													106.0	105.0	105.0					9																	131329101		2203	4300	6503	SO:0001583	missense	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.82C>T	9.37:g.131329101C>T	ENSP00000361816:p.Arg28Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.625175	0.87560	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.36520	1.25;1.25;1.25	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	M	0.72479	2.2	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.998;1.0;0.999	P;D;P;D;D	0.77004	0.898;0.989;0.88;0.978;0.922	T	0.60347	-0.7281	10	0.72032	D	0.01	.	14.5719	0.68218	0.1549:0.8451:0.0:0.0	.	28;28;28;28;28	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	C	28	ENSP00000350882:R28C;ENSP00000361816:R28C;ENSP00000361824:R28C	ENSP00000350882:R28C	R	+	1	0	SPTAN1	130368922	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.801000	0.69115	2.829000	0.97493	0.655000	0.94253	CGC		0.488	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127	
DOLPP1	57171	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	131849014	131849014	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:131849014G>A	ENST00000372546.4	+	7	649	c.617G>A	c.(616-618)cGa>cAa	p.R206Q	DOLPP1_ENST00000406974.3_Missense_Mutation_p.R163Q|DOLPP1_ENST00000540102.1_Missense_Mutation_p.R65Q	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1	206					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|lipid biosynthetic process (GO:0008610)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichyldiphosphatase activity (GO:0047874)			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						TTCCTAATCCGAGACACAAGC	0.577																																						.											0													139.0	116.0	124.0					9																	131849014		2203	4300	6503	SO:0001583	missense	57171			BC009493	CCDS6918.1, CCDS48039.1	9q34.1	2013-05-21	2013-05-21		ENSG00000167130	ENSG00000167130	3.6.1.43		29565	protein-coding gene	gene with protein product	"""linked to Surfeit genes in Fugu rubripes 2"""	614516	"""dolichyl pyrophosphate phosphatase 1"""			10369878, 12198133	Standard	NM_020438		Approved	LSFR2	uc004bxc.3	Q86YN1	OTTHUMG00000020771	ENST00000372546.4:c.617G>A	9.37:g.131849014G>A	ENSP00000361625:p.Arg206Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A8K3U8|B0QZG4|Q96GF8|Q9Y3G1	Missense_Mutation	SNP	ENST00000372546.4	37	CCDS6918.1	.	.	.	.	.	.	.	.	.	.	G	36	5.833991	0.97003	.	.	ENSG00000167130	ENST00000372546;ENST00000406974;ENST00000540102	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.75722	0.3888	M	0.73372	2.23	0.80722	D	1	D;D	0.63880	0.993;0.973	P;P	0.57720	0.826;0.467	T	0.76825	-0.2816	9	0.52906	T	0.07	-17.6525	18.4844	0.90823	0.0:0.0:1.0:0.0	.	163;206	B0QZG4;Q86YN1	.;DOPP1_HUMAN	Q	206;163;65	.	ENSP00000361625:R206Q	R	+	2	0	DOLPP1	130888835	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.375000	0.97178	2.607000	0.88179	0.555000	0.69702	CGA		0.577	DOLPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054548.4	NM_020438	
PRRC2B	84726	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	9	134334701	134334701	+	Silent	SNP	G	G	A	rs565217318	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:134334701G>A	ENST00000357304.4	+	10	1417	c.1362G>A	c.(1360-1362)ccG>ccA	p.P454P	PRRC2B_ENST00000458550.1_Silent_p.P454P|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Silent_p.P454P	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	454							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CTCAGCCACCGCCCAGGAAGC	0.617													G|||	2	0.000399361	0.0	0.0	5008	,	,		15507	0.0		0.0	False		,,,				2504	0.002					.											0													39.0	47.0	44.0					9																	134334701		2077	4213	6290	SO:0001819	synonymous_variant	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.1362G>A	9.37:g.134334701G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	CCDS48044.1																																																																																				0.617	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
NTNG2	84628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	9	135073709	135073709	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:135073709G>A	ENST00000393229.3	+	3	1346	c.570G>A	c.(568-570)gcG>gcA	p.A190A	NTNG2_ENST00000360670.3_Silent_p.A190A|NTNG2_ENST00000393228.4_Silent_p.A190A|NTNG2_ENST00000372179.3_Silent_p.A190A	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	190	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CCTCCAGCGCGCACCGCGTGC	0.677																																						.											0													33.0	27.0	29.0					9																	135073709		2203	4296	6499	SO:0001819	synonymous_variant	84628			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.570G>A	9.37:g.135073709G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	37	CCDS6946.1																																																																																				0.677	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536	
GTF3C4	9329	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	9	135553528	135553528	+	Silent	SNP	C	C	T	rs372437145		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:135553528C>T	ENST00000372146.4	+	2	1086	c.522C>T	c.(520-522)tgC>tgT	p.C174C	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	174					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CCATGGGTTGCGATGCTAATG	0.532																																					Pancreas(142;417 1875 11086 31973 47667)	.											0								C		0,4406		0,0,2203	114.0	111.0	112.0		522	-2.7	1.0	9		112	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GTF3C4	NM_012204.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		174/823	135553528	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9329			AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.522C>T	9.37:g.135553528C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5VZJ7	Silent	SNP	ENST00000372146.4	37	CCDS6953.1																																																																																				0.532	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1		
COL5A1	1289	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	9	137712006	137712006	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:137712006G>T	ENST00000371817.3	+	58	4905	c.4491G>T	c.(4489-4491)caG>caT	p.Q1497H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1497	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGGGTGAACAGGGTGAGAAGG	0.622																																						.											0													104.0	97.0	99.0					9																	137712006		2203	4300	6503	SO:0001583	missense	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4491G>T	9.37:g.137712006G>T	ENSP00000360882:p.Gln1497His	Somatic		WXS	Illumina HiSeq	Phase_I	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790277	0.50102	.	.	ENSG00000130635	ENST00000371817;ENST00000355306	D	0.92805	-3.11	4.69	3.77	0.43336	.	0.000000	0.85682	U	0.000000	D	0.89255	0.6663	M	0.65975	2.015	0.49483	D	0.999797	B	0.15719	0.014	B	0.17722	0.019	D	0.85085	0.0948	10	0.62326	D	0.03	.	6.8449	0.23982	0.1697:0.1461:0.6843:0.0	.	1497	P20908	CO5A1_HUMAN	H	1497;34	ENSP00000360882:Q1497H	ENSP00000347458:Q34H	Q	+	3	2	COL5A1	136851827	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	1.914000	0.39966	0.923000	0.37045	0.643000	0.83706	CAG		0.622	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	
ABCA2	20	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	9	139908708	139908708	+	Silent	SNP	G	G	A	rs567851206		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:139908708G>A	ENST00000371605.3	-	26	4296	c.4149C>T	c.(4147-4149)ggC>ggT	p.G1383G	ABCA2_ENST00000265662.5_Silent_p.G1384G|ABCA2_ENST00000341511.6_Silent_p.G1384G			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1383					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CTCCCTCGTCGCCACGGGCAG	0.652													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15627	0.0		0.0	False		,,,				2504	0.0					.											0													17.0	21.0	20.0					9																	139908708		2184	4283	6467	SO:0001819	synonymous_variant	20			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.4149C>T	9.37:g.139908708G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37																																																																																					0.652	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606	
ANAPC2	29882	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	9	140074818	140074818	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:140074818G>A	ENST00000323927.2	-	10	1709	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	569					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 axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|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)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GCATTGATGCGGCGGGAGTCC	0.677																																						.											0													37.0	38.0	38.0					9																	140074818		2203	4298	6501	SO:0001583	missense	29882			AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.1705C>T	9.37:g.140074818G>A	ENSP00000314004:p.Arg569Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	37	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.363861	0.61513	.	.	ENSG00000176248	ENST00000323927	T	0.74947	-0.89	4.27	4.27	0.50696	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.87160	0.6108	M	0.91872	3.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88706	0.3219	10	0.87932	D	0	-18.2855	9.4373	0.38646	0.0:0.0:0.7879:0.2121	.	569;566	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	C	569	ENSP00000314004:R569C	ENSP00000314004:R569C	R	-	1	0	ANAPC2	139194639	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	4.106000	0.57804	2.202000	0.70862	0.462000	0.41574	CGC		0.677	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366	
PNPLA7	375775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	140355132	140355132	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:140355132G>A	ENST00000277531.4	-	33	4010	c.3824C>T	c.(3823-3825)gCa>gTa	p.A1275V	NSMF_ENST00000265663.7_5'Flank|PNPLA7_ENST00000406427.1_Missense_Mutation_p.A1300V|PNPLA7_ENST00000492278.1_5'UTR|NSMF_ENST00000392812.4_5'Flank|NSMF_ENST00000371473.3_5'Flank|NSMF_ENST00000371475.3_5'Flank|NSMF_ENST00000371474.3_5'Flank|NSMF_ENST00000371472.2_5'Flank|NSMF_ENST00000437259.1_5'Flank|PNPLA7_ENST00000371457.1_Missense_Mutation_p.A881V	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1275					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GTCTGCGTATGCATCCCTGGG	0.632																																						.											0													108.0	87.0	94.0					9																	140355132		2202	4300	6502	SO:0001583	missense	375775			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.3824C>T	9.37:g.140355132G>A	ENSP00000277531:p.Ala1275Val	Somatic		WXS	Illumina HiSeq	Phase_I	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782611	0.31502	.	.	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.71222	-0.55;3.36;0.25;0.25;0.23	4.22	3.22	0.36961	.	0.433103	0.23604	N	0.046415	T	0.53174	0.1780	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.24368	0.049;0.102;0.027;0.003	B;B;B;B	0.28139	0.016;0.086;0.011;0.007	T	0.39921	-0.9590	10	0.31617	T	0.26	-1.2611	7.6817	0.28518	0.0:0.0:0.6711:0.3289	.	683;1300;1275;522	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	V	881;683;1275;1300;1212;1266	ENSP00000360512:A881V;ENSP00000360501:A683V;ENSP00000277531:A1275V;ENSP00000384610:A1300V;ENSP00000400582:A1266V	ENSP00000277531:A1275V	A	-	2	0	PNPLA7	139474953	0.934000	0.31675	0.002000	0.10522	0.123000	0.20343	0.082000	0.14847	1.888000	0.54679	0.563000	0.77884	GCA		0.632	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286	
PTPRD	5789	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	9	8485823	8485823	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:8485823C>T	ENST00000381196.4	-	25	3537	c.2994G>A	c.(2992-2994)acG>acA	p.T998T	PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Silent_p.T985T|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000356435.5_Silent_p.T998T|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000540109.1_Silent_p.T998T|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000358503.5_Silent_p.T976T|PTPRD_ENST00000355233.5_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	998	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCCCTTTGCTCGTATGAGCAC	0.493										TSP Lung(15;0.13)																												.											0													102.0	89.0	94.0					9																	8485823		2203	4300	6503	SO:0001819	synonymous_variant	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2994G>A	9.37:g.8485823C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	CCDS43786.1																																																																																				0.493	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		
BNC2	54796	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	16552695	16552695	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:16552695C>T	ENST00000380672.4	-	5	559	c.502G>A	c.(502-504)Gtg>Atg	p.V168M	BNC2_ENST00000380666.2_Missense_Mutation_p.V168M|BNC2_ENST00000380667.2_Missense_Mutation_p.V101M|BNC2_ENST00000545497.1_Missense_Mutation_p.V73M	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		ATGTCAAACACGACGTTGGAC	0.562																																						.											0													141.0	113.0	123.0					9																	16552695		2203	4300	6503	SO:0001583	missense	54796			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.502G>A	9.37:g.16552695C>T	ENSP00000370047:p.Val168Met	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000380672.4	37	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	34	5.384721	0.95967	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000456672;ENST00000436939;ENST00000380667;ENST00000545497;ENST00000380666;ENST00000540340;ENST00000451290	T;T;T;T;T	0.03860	3.78;3.78;3.78;3.78;3.78	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.23806	0.0576	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998	D;D;D;D;D	0.91635	0.999;0.996;0.996;0.988;0.967	T	0.00018	-1.2373	10	0.87932	D	0	-19.1872	20.4366	0.99092	0.0:1.0:0.0:0.0	.	73;205;168;126;168	F5H586;Q06HC4;Q6ZN30-2;Q5H9S4;Q6ZN30	.;.;.;.;BNC2_HUMAN	M	168;125;205;196;101;73;168;168;91	ENSP00000370047:V168M;ENSP00000408370:V125M;ENSP00000370042:V101M;ENSP00000444640:V73M;ENSP00000370041:V168M	ENSP00000370041:V168M	V	-	1	0	BNC2	16542695	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.818000	0.86416	2.837000	0.97791	0.591000	0.81541	GTG		0.562	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637	
LINGO2	158038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	27949033	27949033	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:27949033G>T	ENST00000379992.2	-	6	2086	c.1637C>A	c.(1636-1638)gCt>gAt	p.A546D	LINGO2_ENST00000308675.3_Missense_Mutation_p.A546D	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	546						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GCAGCCCATAGCTGTAGACAC	0.448																																						.											0													125.0	114.0	118.0					9																	27949033		2203	4300	6503	SO:0001583	missense	158038			AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1637C>A	9.37:g.27949033G>T	ENSP00000369328:p.Ala546Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564630	0.65651	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.58940	0.3;0.3	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.76090	0.3939	M	0.69823	2.125	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	T	0.73962	-0.3817	9	.	.	.	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	546	Q7L985	LIGO2_HUMAN	D	546	ENSP00000369328:A546D;ENSP00000310126:A546D	.	A	-	2	0	LINGO2	27939033	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.769000	0.95229	0.655000	0.94253	GCT		0.448	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570	
CCL27	10850	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	9	34661943	34661943	+	Nonstop_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:34661943A>G	ENST00000259631.4	-	3	395	c.337T>C	c.(337-339)Tga>Cga	p.*113R	RP11-195F19.30_ENST00000564224.1_RNA|CCL27_ENST00000557161.1_5'UTR	NM_006664.2	NP_006655.1	Q9Y4X3	CCL27_HUMAN	chemokine (C-C motif) ligand 27	0					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			kidney(1)|large_intestine(3)|ovary(1)	5	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TGGGGGCTTCAGCCCATTTTC	0.453																																						.											0													86.0	96.0	93.0					9																	34661943		2203	4300	6503	SO:0001578	stop_lost	10850			AJ243542	CCDS6569.1	9p13	2014-05-16	2002-08-22	2002-08-23	ENSG00000213927	ENSG00000213927		"""Chemokine ligands"", ""Endogenous ligands"""	10626	protein-coding gene	gene with protein product	"""CC chemokine ILC"", ""IL-11 Ralpha-locus chemokine"", ""cutaneous T-cell attracting chemokine"""	604833	"""small inducible cytokine subfamily A (Cys-Cys), member 27"""	SCYA27		10556532, 10588729	Standard	NM_006664		Approved	ALP, ILC, CTACK, skinkine, ESkine, PESKY, CTAK	uc003zvm.1	Q9Y4X3	OTTHUMG00000019834	ENST00000259631.4:c.337T>C	9.37:g.34661943A>G	ENSP00000259631:p.*113Glyext*4	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000259631.4	37	CCDS6569.1	.	.	.	.	.	.	.	.	.	.	A	1.604	-0.525897	0.04141	.	.	ENSG00000213927	ENST00000259631	.	.	.	4.33	-7.15	0.01521	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5354	0.17007	0.3557:0.0:0.4179:0.2263	.	.	.	.	R	113	.	.	X	-	1	0	CCL27	34651943	0.000000	0.05858	0.000000	0.03702	0.522000	0.34438	-0.630000	0.05502	-1.556000	0.01695	-0.256000	0.11100	TGA		0.453	CCL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052228.1	NM_006664	
PIGO	84720	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	35095327	35095327	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:35095327C>T	ENST00000378617.3	-	2	630	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	PIGO_ENST00000341666.3_Missense_Mutation_p.R79Q|RP11-182N22.8_ENST00000431804.1_RNA|PIGO_ENST00000361778.2_Missense_Mutation_p.R79Q|PIGO_ENST00000492770.1_5'UTR|PIGO_ENST00000298004.5_Missense_Mutation_p.R79Q	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	79					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GAAGTCAAATCGCAGAGCATC	0.602																																						.											0													102.0	102.0	102.0					9																	35095327		2203	4300	6503	SO:0001583	missense	84720			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.236G>A	9.37:g.35095327C>T	ENSP00000367880:p.Arg79Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577399	0.86645	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.54	5.54	0.83059	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.094005	0.48767	D	0.000164	T	0.59783	0.2219	M	0.91038	3.17	0.42183	D	0.991692	D;D	0.69078	0.981;0.997	B;P	0.57425	0.43;0.82	T	0.68481	-0.5397	10	0.72032	D	0.01	-37.321	9.3963	0.38404	0.0:0.8023:0.0:0.1977	.	79;79	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	Q	79	ENSP00000298004:R79Q;ENSP00000367880:R79Q;ENSP00000339382:R79Q;ENSP00000354678:R79Q	ENSP00000298004:R79Q	R	-	2	0	PIGO	35085327	0.991000	0.36638	1.000000	0.80357	0.914000	0.54420	1.499000	0.35671	2.628000	0.89032	0.563000	0.77884	CGA		0.602	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634	
ARHGEF39	84904	broad.mit.edu;hgsc.bcm.edu	37	9	35664388	35664389	+	Frame_Shift_Del	DEL	CT	CT	-	rs139646420	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:35664388_35664389delCT	ENST00000378387.3	-	3	451_452	c.334_335delAG	c.(334-336)aggfs	p.R112fs	ARHGEF39_ENST00000343259.3_Frame_Shift_Del_p.R112fs|ARHGEF39_ENST00000378395.2_Frame_Shift_Del_p.R76fs|ARHGEF39_ENST00000490970.1_5'UTR	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	112	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)										GGTCTGGGACCTCTCTGAGTTG	0.545																																						.											0																																										SO:0001589	frameshift_variant	84904			AK001187	CCDS6584.2	9p13.3	2012-08-08	2012-08-08	2012-08-08	ENSG00000137135	ENSG00000137135			25909	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 100"""	C9orf100		22327280	Standard	XR_242516		Approved	FLJ14642	uc003zxm.1	Q8N4T4	OTTHUMG00000019869	ENST00000378387.3:c.334_335delAG	9.37:g.35664392_35664393delCT	ENSP00000367638:p.Arg112fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q49AG0|Q6TPQ2|Q96ST6	Frame_Shift_Del	DEL	ENST00000378387.3	37	CCDS6584.2																																																																																				0.545	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052330.1	NM_032818	
FXN	2395	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	9	71668178	71668178	+	Splice_Site	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:71668178T>C	ENST00000377270.3	+	3	908		c.e3+2		FXN_ENST00000396366.2_Splice_Site|FXN_ENST00000498653.1_Splice_Site|FXN_ENST00000396364.3_Splice_Site	NM_000144.4	NP_000135.2	Q16595	FRDA_HUMAN	frataxin						adult walking behavior (GO:0007628)|aerobic respiration (GO:0009060)|cellular iron ion homeostasis (GO:0006879)|cellular response to hydrogen peroxide (GO:0070301)|embryo development ending in birth or egg hatching (GO:0009792)|heme biosynthetic process (GO:0006783)|ion transport (GO:0006811)|iron incorporation into metallo-sulfur cluster (GO:0018283)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|oxidative phosphorylation (GO:0006119)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)|proprioception (GO:0019230)|protein autoprocessing (GO:0016540)|regulation of ferrochelatase activity (GO:0010722)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)|iron chaperone activity (GO:0034986)|iron-sulfur cluster binding (GO:0051536)			large_intestine(1)|lung(1)	2						TCCTTTGGGGTACCTCTTGAC	0.413																																						.											0													174.0	185.0	182.0					9																	71668178		2203	4300	6503	SO:0001630	splice_region_variant	2395			U43752	CCDS6626.1, CCDS43834.1, CCDS55313.1	9q21.11	2014-09-17	2004-08-16	2004-08-19	ENSG00000165060	ENSG00000165060			3951	protein-coding gene	gene with protein product		606829	"""Friedreich ataxia"""	FRDA		8596916, 8841185	Standard	NM_000144		Approved	FA, FARR, X25, CyaY	uc004aha.2	Q16595	OTTHUMG00000019977	ENST00000377270.3:c.384+2T>C	9.37:g.71668178T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8MXJ6|C9JJ89|O15545|O95656|Q15294|Q5VZ01	Splice_Site	SNP	ENST00000377270.3	37	CCDS6626.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.131134	0.56828	.	.	ENSG00000165060	ENST00000377270;ENST00000396364;ENST00000396366;ENST00000498653	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5414	0.67997	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FXN	70857998	1.000000	0.71417	0.993000	0.49108	0.685000	0.39939	5.378000	0.66190	2.076000	0.62316	0.523000	0.50628	.		0.413	FXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052568.2	NM_000144	Intron
C9orf64	84267	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	9	86571236	86571236	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:86571236G>A	ENST00000376344.3	-	1	396	c.180C>T	c.(178-180)gcC>gcT	p.A60A	C9orf64_ENST00000376340.2_5'UTR|C9orf64_ENST00000314700.1_Intron	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	60										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CGGCCTCGTCGGCCGCCCTGG	0.647																																						.											0													63.0	65.0	65.0					9																	86571236		1987	4159	6146	SO:0001819	synonymous_variant	84267			AK090882	CCDS6666.2	9q22.1	2014-06-11			ENSG00000165118	ENSG00000165118			28144	protein-coding gene	gene with protein product		611342				24911101	Standard	NM_032307		Approved	MGC10999	uc004anb.3	Q5T6V5	OTTHUMG00000020111	ENST00000376344.3:c.180C>T	9.37:g.86571236G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RPI6|Q8N2B1|Q9BT18	Silent	SNP	ENST00000376344.3	37	CCDS6666.2																																																																																				0.647	C9orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052865.1	NM_032307	
SHC3	53358	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	91692802	91692802	+	Missense_Mutation	SNP	C	C	T	rs539726812		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:91692802C>T	ENST00000375835.4	-	3	868	c.562G>A	c.(562-564)Gtc>Atc	p.V188I	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	188	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						GCTTCACAGACGCGGCTGATG	0.473																																						.											0													123.0	116.0	118.0					9																	91692802		2203	4300	6503	SO:0001583	missense	53358			D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"""SH2 domain containing"""	18181	protein-coding gene	gene with protein product		605263	"""src homology 2 domain containing transforming protein C3"""			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.562G>A	9.37:g.91692802C>T	ENSP00000364995:p.Val188Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T7I7|Q8TAP2|Q9UCX5	Missense_Mutation	SNP	ENST00000375835.4	37	CCDS6681.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.186566	0.57909	.	.	ENSG00000148082	ENST00000375835	T	0.22336	1.96	5.64	4.61	0.57282	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.061292	0.64402	N	0.000003	T	0.22166	0.0534	L	0.59436	1.845	0.80722	D	1	B	0.23128	0.08	B	0.26416	0.069	T	0.04178	-1.0971	10	0.54805	T	0.06	-34.1954	8.8237	0.35041	0.0:0.7953:0.0:0.2047	.	188	Q92529	SHC3_HUMAN	I	188	ENSP00000364995:V188I	ENSP00000364995:V188I	V	-	1	0	SHC3	90882622	1.000000	0.71417	0.833000	0.33012	0.900000	0.52787	2.887000	0.48586	1.364000	0.46038	0.650000	0.86243	GTC		0.473	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052986.1	NM_016848	
CACNA1B	774	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	140941360	140941360	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:140941360C>T	ENST00000371372.1	+	22	3563	c.3418C>T	c.(3418-3420)Cgc>Tgc	p.R1140C	CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1140C|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1140C|CACNA1B_ENST00000545473.1_Missense_Mutation_p.R166C|CACNA1B_ENST00000277549.5_Missense_Mutation_p.R332C|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1141C|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1141C	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1140					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TCACAGGCTCCGCCGCTTCTG	0.652																																						.											0													51.0	54.0	53.0					9																	140941360		2112	4216	6328	SO:0001583	missense	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3418C>T	9.37:g.140941360C>T	ENSP00000360423:p.Arg1140Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553682	0.65425	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355;ENST00000545473	T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.73830	0.3637	M	0.93854	3.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.995;0.995	T	0.81920	-0.0712	10	0.87932	D	0	.	17.44	0.87562	0.0:1.0:0.0:0.0	.	1140;1141;1140	B1AQK4;B1AQK7;B1AQK6	.;.;.	C	1140;1140;332;1140;1141;1141;166	ENSP00000360423:R1140C;ENSP00000277551:R1140C;ENSP00000277549:R332C;ENSP00000360414:R1140C;ENSP00000360408:R1141C;ENSP00000360406:R1141C;ENSP00000441232:R166C	ENSP00000277549:R332C	R	+	1	0	CACNA1B	140061181	0.986000	0.35501	1.000000	0.80357	0.624000	0.37722	2.783000	0.47766	2.416000	0.81992	0.561000	0.74099	CGC		0.652	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
H2BFM	286436	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	103294871	103294871	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:103294871G>A	ENST00000355016.3	+	1	356	c.328G>A	c.(328-330)Gtg>Atg	p.V110M	H2BFM_ENST00000243297.5_Missense_Mutation_p.V213M	NM_001164416.1	NP_001157888.1	P0C1H6	H2BFM_HUMAN	H2B histone family, member M	110						nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(1)|ovary(1)	3						CACCAAGCGCGTGACCATCAC	0.627																																						.											0													16.0	16.0	16.0					X																	103294871		692	1590	2282	SO:0001583	missense	286436			AK093522	CCDS55468.1	Xq22.2	2011-01-27			ENSG00000101812	ENSG00000101812		"""Histones / Replication-independent"""	27867	protein-coding gene	gene with protein product							Standard	NM_001164416		Approved		uc004els.2	P0C1H6	OTTHUMG00000022122	ENST00000355016.3:c.328G>A	X.37:g.103294871G>A	ENSP00000347119:p.Val110Met	Somatic		WXS	Illumina HiSeq	Phase_I	A6NP82	Missense_Mutation	SNP	ENST00000355016.3	37	CCDS55468.1	.	.	.	.	.	.	.	.	.	.	.	11.77	1.739056	0.30774	.	.	ENSG00000101812	ENST00000243297;ENST00000355016;ENST00000417637	T;T;T	0.21932	1.98;1.98;1.98	2.66	-0.0323	0.13905	Histone-fold (2);Histone core (1);	3.058100	0.02954	U	0.142110	T	0.15046	0.0363	N	0.24115	0.695	0.21064	N	0.999791	P	0.34800	0.469	B	0.31547	0.132	T	0.26430	-1.0103	10	0.48119	T	0.1	.	7.5466	0.27770	0.0:0.0:0.448:0.5519	.	213	P0C1H6	H2BFM_HUMAN	M	213;110;8	ENSP00000243297:V213M;ENSP00000347119:V110M;ENSP00000402466:V8M	ENSP00000243297:V213M	V	+	1	0	H2BFM	103181527	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	1.218000	0.32467	-0.165000	0.10908	-0.460000	0.05396	GTG		0.627	H2BFM-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057758.2	XM_210048	
IL13RA1	3597	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	X	117907851	117907851	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:117907851G>A	ENST00000371666.3	+	9	1086	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	IL13RA1_ENST00000371637.3_Missense_Mutation_p.R139H	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	340					cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						GGTAAGAAGCGCAATTCCACA	0.393																																						.											0													268.0	234.0	246.0					X																	117907851		2203	4300	6503	SO:0001583	missense	3597			U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"""Interleukins and interleukin receptors"", ""CD molecules"""	5974	protein-coding gene	gene with protein product	"""IL13 receptor alpha-1 chain"", ""CD213a1 antigen"""	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.1019G>A	X.37:g.117907851G>A	ENSP00000360730:p.Arg340His	Somatic		WXS	Illumina HiSeq	Phase_I	O95646|Q5JSL4|Q99656|Q9UDY5	Missense_Mutation	SNP	ENST00000371666.3	37	CCDS14573.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198911	0.38806	.	.	ENSG00000131724	ENST00000371666;ENST00000371637	D	0.90620	-2.7	5.54	0.181	0.15073	.	1.672200	0.03378	N	0.199998	T	0.79575	0.4469	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.66622	-0.5877	10	0.38643	T	0.18	0.6536	3.5262	0.07760	0.39:0.3911:0.1338:0.0851	.	340;340	Q5JSL4;P78552	.;I13R1_HUMAN	H	340;139	ENSP00000360730:R340H	ENSP00000360700:R139H	R	+	2	0	IL13RA1	117791879	0.000000	0.05858	0.001000	0.08648	0.130000	0.20726	0.181000	0.16880	-0.027000	0.13873	-0.377000	0.06932	CGC		0.393	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1	NM_001560	
DCAF12L2	340578	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	125299514	125299514	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:125299514G>A	ENST00000360028.2	-	1	420	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R132C			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	132										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						AGGGGGATGCGCGTGATGTGG	0.637																																						.											0													87.0	80.0	83.0					X																	125299514		2203	4300	6503	SO:0001583	missense	340578			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.394C>T	X.37:g.125299514G>A	ENSP00000353128:p.Arg132Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	g	9.379	1.072568	0.20147	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.38401	1.14;1.14	3.89	2.03	0.26663	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.42921	0.1224	M	0.67953	2.075	0.09310	N	1	D	0.67145	0.996	P	0.50791	0.65	T	0.23511	-1.0186	9	0.49607	T	0.09	.	7.8811	0.29623	0.0:0.0:0.5518:0.4482	.	132	Q5VW00	DC122_HUMAN	C	132	ENSP00000441489:R132C;ENSP00000353128:R132C	ENSP00000353128:R132C	R	-	1	0	DCAF12L2	125127195	1.000000	0.71417	0.000000	0.03702	0.001000	0.01503	3.290000	0.51755	0.396000	0.25283	-0.337000	0.08149	CGC		0.637	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628	
ATXN3L	92552	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	13337345	13337345	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:13337345G>A	ENST00000380622.2	-	1	1173	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	237					protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GTTTCTTGGCGGCTTAGTTCA	0.423																																						.											0													277.0	251.0	259.0					X																	13337345		1568	3582	5150	SO:0001583	missense	92552				CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.709C>T	X.37:g.13337345G>A	ENSP00000369996:p.Arg237Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNY8	Missense_Mutation	SNP	ENST00000380622.2	37	CCDS48080.1	.	.	.	.	.	.	.	.	.	.	g	8.243	0.807365	0.16467	.	.	ENSG00000123594	ENST00000380622	T	0.21031	2.03	0.793	0.793	0.18632	Ubiquitin interacting motif (3);	0.000000	0.85682	D	0.000000	T	0.16769	0.0403	L	0.47190	1.495	0.58432	D	0.999997	P	0.47545	0.897	B	0.43701	0.428	T	0.03524	-1.1028	10	0.87932	D	0	.	3.7528	0.08573	0.0:1.0E-4:0.5717:0.4282	.	237	Q9H3M9	ATX3L_HUMAN	C	237	ENSP00000369996:R237C	ENSP00000369996:R237C	R	-	1	0	ATXN3L	13247266	0.829000	0.29322	0.002000	0.10522	0.004000	0.04260	0.433000	0.21477	0.661000	0.30985	0.417000	0.27973	CGC		0.423	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055785.2	NM_001135995	
ENOX2	10495	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	129804011	129804011	+	Missense_Mutation	SNP	G	G	A	rs143816261		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:129804011G>A	ENST00000370927.1	-	5	730	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C	ENOX2_ENST00000394363.1_Missense_Mutation_p.R208C|ENOX2_ENST00000370935.1_Missense_Mutation_p.R208C|ENOX2_ENST00000338144.3_Missense_Mutation_p.R237C			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	237					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GATGGTGGACGCAATCTTTCT	0.463													G|||	5	0.0013245	0.0	0.0	3775	,	,		15898	0.005		0.0	False		,,,				2504	0.0				Ovarian(101;828 1506 2951 9500 35258)	.											0													229.0	173.0	192.0					X																	129804011		2203	4300	6503	SO:0001583	missense	10495			AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.709C>T	X.37:g.129804011G>A	ENSP00000359965:p.Arg237Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	CCDS14626.1	5	0.0030138637733574444	0	0.0	0	0.0	3	0.00528169014084507	0	0.0	G	21.1	4.093527	0.76756	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	.	.	.	5.31	5.31	0.75309	.	0.063433	0.64402	D	0.000004	T	0.68550	0.3013	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.66497	0.944;0.944	T	0.73962	-0.3817	8	.	.	.	-5.4965	10.2292	0.43245	0.0:0.0:0.803:0.197	.	237;265	Q16206;A4QPE1	ENOX2_HUMAN;.	C	208;208;237;208;265;237;208	.	.	R	-	1	0	ENOX2	129631692	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.896000	0.63222	2.463000	0.83235	0.600000	0.82982	CGT		0.463	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314	
SLC25A6	293	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	1506261	1506261	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:1506261G>A	ENST00000381401.5	-	3	1364	c.650C>T	c.(649-651)gCg>gTg	p.A217V	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	217					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CACGGTCTGCGCGATCATCCA	0.692																																						.											0													114.0	98.0	104.0					X																	1506261		2203	4296	6499	SO:0001583	missense	293			AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.650C>T	X.37:g.1506261G>A	ENSP00000370808:p.Ala217Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q96C49	Missense_Mutation	SNP	ENST00000381401.5	37	CCDS14114.1	.	.	.	.	.	.	.	.	.	.	.	22.2	4.252145	0.80135	.	.	ENSG00000169100	ENST00000381401	T	0.80566	-1.39	1.87	1.87	0.25490	Mitochondrial carrier domain (2);	0.000000	0.53938	U	0.000046	D	0.90184	0.6932	H	0.99444	4.57	0.09310	N	1	D	0.76494	0.999	P	0.48921	0.595	D	0.84987	0.0892	10	0.87932	D	0	.	12.0724	0.53624	0.0:0.0:1.0:0.0	.	217	P12236	ADT3_HUMAN	V	217	ENSP00000370808:A217V	ENSP00000370808:A217V	A	-	2	0	SLC25A6	1466261	1.000000	0.71417	0.650000	0.29550	0.657000	0.38888	7.381000	0.79718	0.987000	0.38709	0.409000	0.27619	GCG		0.692	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	NM_001636	
FMR1	2332	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	147011711	147011711	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:147011711G>A	ENST00000370475.4	+	7	706	c.578G>A	c.(577-579)cGc>cAc	p.R193H	FMR1_ENST00000334557.6_Missense_Mutation_p.R193H|FMR1_ENST00000370470.1_Missense_Mutation_p.R193H|FMR1_ENST00000370477.1_Missense_Mutation_p.R193H|FMR1_ENST00000218200.8_Missense_Mutation_p.R193H|FMR1_ENST00000439526.2_Missense_Mutation_p.R193H|FMR1_ENST00000440235.2_5'Flank|FMR1_ENST00000370471.3_Missense_Mutation_p.R193H	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	193					central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R193H(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					CGGAGTCTGCGCACTAAGTTG	0.408									Fragile X syndrome																													.											1	Substitution - Missense(1)	NS(1)											141.0	117.0	125.0					X																	147011711		2203	4300	6503	SO:0001583	missense	2332	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.578G>A	X.37:g.147011711G>A	ENSP00000359506:p.Arg193His	Somatic		WXS	Illumina HiSeq	Phase_I	A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631865	0.87660	.	.	ENSG00000102081	ENST00000218200;ENST00000370471;ENST00000370477;ENST00000370475;ENST00000334557;ENST00000439526;ENST00000370470	T;T;T;T;T;T;T	0.61627	0.86;0.09;0.9;0.88;1.18;0.9;0.92	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.78935	0.4362	M	0.85542	2.76	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.998;1.0;1.0;1.0	P;D;D;D;D	0.85130	0.858;0.924;0.994;0.997;0.997	T	0.83127	-0.0115	10	0.87932	D	0	-20.2599	16.6447	0.85173	0.0:0.0:1.0:0.0	.	193;193;109;193;193	Q8IXW7;Q06787;Q59GC1;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.;.	H	193	ENSP00000218200:R193H;ENSP00000359502:R193H;ENSP00000359508:R193H;ENSP00000359506:R193H;ENSP00000355115:R193H;ENSP00000395923:R193H;ENSP00000359501:R193H	ENSP00000218200:R193H	R	+	2	0	FMR1	146819403	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.679000	0.98649	2.221000	0.72209	0.600000	0.82982	CGC		0.408	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024	
NLGN4X	57502	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	5827148	5827148	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:5827148G>A	ENST00000381095.3	-	4	1385	c.758C>T	c.(757-759)tCg>tTg	p.S253L	NLGN4X_ENST00000275857.6_Missense_Mutation_p.S253L|NLGN4X_ENST00000381093.2_Missense_Mutation_p.S273L|NLGN4X_ENST00000538097.1_Missense_Mutation_p.S253L|NLGN4X_ENST00000381092.1_Missense_Mutation_p.S253L	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	253					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CCCAGCCCCCGAGCCAAAGAT	0.587																																						.											0													68.0	63.0	65.0					X																	5827148		2203	4300	6503	SO:0001583	missense	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.758C>T	X.37:g.5827148G>A	ENSP00000370485:p.Ser253Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300364	0.60195	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	3.48	3.48	0.39840	Carboxylesterase, type B (1);	.	.	.	.	T	0.75620	0.3874	L	0.47716	1.5	0.58432	D	0.999998	D;D;D	0.89917	0.981;1.0;0.998	P;D;P	0.83275	0.698;0.996;0.774	T	0.78237	-0.2282	9	0.66056	D	0.02	.	13.8719	0.63624	0.0:0.0:1.0:0.0	.	310;253;273	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	L	253;273;253;253;253	ENSP00000370485:S253L;ENSP00000370483:S273L;ENSP00000275857:S253L;ENSP00000370482:S253L;ENSP00000439203:S253L	ENSP00000275857:S253L	S	-	2	0	NLGN4X	5837148	1.000000	0.71417	0.648000	0.29521	0.217000	0.24651	8.345000	0.90057	1.508000	0.48769	0.600000	0.82982	TCG		0.587	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742	
FAM47C	442444	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	37028375	37028375	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:37028375G>A	ENST00000358047.3	+	1	1944	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	631										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCCATCTCCGCCCAGAGCCT	0.637																																						.											0													30.0	35.0	33.0					X																	37028375		2147	4213	6360	SO:0001583	missense	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1892G>A	X.37:g.37028375G>A	ENSP00000367913:p.Arg631His	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	10.60	1.394681	0.25205	.	.	ENSG00000198173	ENST00000358047	T	0.15834	2.39	1.67	-3.33	0.04958	.	.	.	.	.	T	0.07098	0.0180	N	0.10685	0.025	0.09310	N	1	P	0.37781	0.608	B	0.37387	0.248	T	0.29792	-1.0000	9	0.39692	T	0.17	.	5.1076	0.14793	0.1894:0.5823:0.2283:0.0	.	631	Q5HY64	FA47C_HUMAN	H	631	ENSP00000367913:R631H	ENSP00000367913:R631H	R	+	2	0	FAM47C	36938296	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-2.462000	0.00997	-0.572000	0.06006	0.414000	0.27820	CGC		0.637	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736	
KIF4A	24137	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	69595076	69595076	+	Missense_Mutation	SNP	C	C	T	rs374256182		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:69595076C>T	ENST00000374403.3	+	17	1883	c.1801C>T	c.(1801-1803)Cgt>Tgt	p.R601C	KIF4A_ENST00000374388.3_Missense_Mutation_p.R601C	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	601					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CCGCCGCAAACGTCTCCAGGA	0.473																																						.											0								C	CYS/ARG	1,3834		0,1,0,1631,571	71.0	61.0	65.0		1801	5.5	1.0	X		65	1,6727		0,0,1,2428,1871	no	missense	KIF4A	NM_012310.4	180	0,1,1,4059,2442	TT,TC,T,CC,C		0.0149,0.0261,0.0189	benign	601/1233	69595076	2,10561	2203	4300	6503	SO:0001583	missense	24137			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1801C>T	X.37:g.69595076C>T	ENSP00000363524:p.Arg601Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951877	0.53293	2.61E-4	1.49E-4	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.70631	2.25;-0.5	5.53	5.53	0.82687	.	0.102401	0.42821	D	0.000648	T	0.68192	0.2974	L	0.55743	1.74	0.80722	D	1	B;B	0.28713	0.033;0.22	B;B	0.35770	0.013;0.21	T	0.68511	-0.5389	10	0.56958	D	0.05	.	10.7456	0.46179	0.3019:0.6981:0.0:0.0	.	601;601	O95239;O95239-2	KIF4A_HUMAN;.	C	601	ENSP00000363509:R601C;ENSP00000363524:R601C	ENSP00000363509:R601C	R	+	1	0	KIF4A	69511801	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.564000	0.45931	2.562000	0.86427	0.600000	0.82982	CGT		0.473	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310	
TEX11	56159	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	70080718	70080718	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:70080718G>A	ENST00000395889.2	-	6	513	c.358C>T	c.(358-360)Cga>Tga	p.R120*	TEX11_ENST00000374333.2_Nonsense_Mutation_p.R105*|TEX11_ENST00000344304.3_Nonsense_Mutation_p.R120*	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	120					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.R105R(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					ATAATCAGTCGTTGAATACTT	0.363																																						.											1	Substitution - coding silent(1)	endometrium(1)											113.0	86.0	95.0					X																	70080718		2203	4300	6503	SO:0001587	stop_gained	56159			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.358C>T	X.37:g.70080718G>A	ENSP00000379226:p.Arg120*	Somatic		WXS	Illumina HiSeq	Phase_I	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Nonsense_Mutation	SNP	ENST00000395889.2	37	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.368975	0.61624	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000344304	.	.	.	4.63	3.47	0.39725	.	0.063218	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.315	7.2818	0.26316	0.0:0.0:0.2363:0.7637	.	.	.	.	X	105;120;120	.	.	R	-	1	2	TEX11	69997443	0.990000	0.36364	0.315000	0.25238	0.035000	0.12851	2.358000	0.44134	0.618000	0.30179	-0.507000	0.04495	CGA		0.363	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1		
NHSL2	340527	hgsc.bcm.edu;mdanderson.org	37	X	71360545	71360545	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:71360545C>T	ENST00000373677.1	+	2	3311	c.2049C>T	c.(2047-2049)ggC>ggT	p.G683G	NHSL2_ENST00000510661.1_Silent_p.G818G|NHSL2_ENST00000540800.1_Silent_p.G1049G|NHSL2_ENST00000535692.1_Silent_p.G683G			Q5HYW2	NHSL2_HUMAN	NHS-like 2	683										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CCGCCACCGGCGATGACCTGC	0.557																																						.											0													54.0	49.0	51.0					X																	71360545		2203	4300	6503	SO:0001819	synonymous_variant	340527					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.2049C>T	X.37:g.71360545C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RN94	Silent	SNP	ENST00000373677.1	37																																																																																					0.557	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627	
DUSP9	1852	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	152915503	152915503	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:152915503G>A	ENST00000342782.3	+	4	1163	c.898G>A	c.(898-900)Gtc>Atc	p.V300I	DUSP9_ENST00000370167.4_Missense_Mutation_p.V300I			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	300	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTCTGTCACCGTCACTGTGGC	0.582																																						.											0													247.0	211.0	223.0					X																	152915503		2203	4300	6503	SO:0001583	missense	1852			Y08302	CCDS14724.1	Xq28	2011-06-09			ENSG00000130829	ENSG00000130829		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3076	protein-coding gene	gene with protein product	"""map kinase phosphatase 4"""	300134				9030581, 9286695	Standard	NM_001395		Approved	MKP-4, MKP4	uc004fhx.4	Q99956	OTTHUMG00000024211	ENST00000342782.3:c.898G>A	X.37:g.152915503G>A	ENSP00000345853:p.Val300Ile	Somatic		WXS	Illumina HiSeq	Phase_I	D3DWU5	Missense_Mutation	SNP	ENST00000342782.3	37	CCDS14724.1	.	.	.	.	.	.	.	.	.	.	g	21.6	4.173822	0.78452	.	.	ENSG00000130829	ENST00000370167;ENST00000342782	D;D	0.86030	-2.06;-2.06	4.94	4.05	0.47172	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.233047	0.28077	N	0.016699	T	0.79644	0.4481	N	0.11651	0.15	0.52099	D	0.999946	P	0.43578	0.811	P	0.53006	0.715	T	0.75639	-0.3248	10	0.21014	T	0.42	.	13.1079	0.59257	0.0:0.1585:0.8415:0.0	.	300	Q99956	DUS9_HUMAN	I	300	ENSP00000359186:V300I;ENSP00000345853:V300I	ENSP00000345853:V300I	V	+	1	0	DUSP9	152568697	1.000000	0.71417	0.800000	0.32199	0.866000	0.49608	7.582000	0.82546	1.036000	0.39998	0.529000	0.55759	GTC		0.582	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061022.3	NM_001395	
DDR2	4921	hgsc.bcm.edu	37	1	162724541	162724541	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:162724541C>T	ENST00000367922.3	+	6	751	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	DDR2_ENST00000367921.3_Missense_Mutation_p.R105C	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	105	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.		R -> S (in a lung large cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:16140923, ECO:0000269|PubMed:17344846}.		biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R105S(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	GACCCAGGGGCGCCATGCAGG	0.547																																					NSCLC(161;314 2006 8283 19651 23192)	.											1	Substitution - Missense(1)	lung(1)											95.0	86.0	89.0					1																	162724541		2203	4300	6503	SO:0001583	missense	4921			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.313C>T	1.37:g.162724541C>T	ENSP00000356899:p.Arg105Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770917	0.90108	.	.	ENSG00000162733	ENST00000446985;ENST00000415555;ENST00000542391;ENST00000367922;ENST00000367921	D;D;D;D	0.98876	-5.2;-5.2;-5.2;-5.2	5.78	4.87	0.63330	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99254	0.9740	M	0.93375	3.41	0.42876	D	0.994153	D	0.89917	1.0	D	0.97110	1.0	D	0.99029	1.0820	9	0.87932	D	0	.	13.5351	0.61643	0.0:0.9249:0.0:0.0751	.	105	Q16832	DDR2_HUMAN	C	105	ENSP00000400309:R105C;ENSP00000391310:R105C;ENSP00000356899:R105C;ENSP00000356898:R105C	ENSP00000356898:R105C	R	+	1	0	DDR2	160991165	1.000000	0.71417	0.948000	0.38648	0.998000	0.95712	7.660000	0.83776	1.453000	0.47775	0.650000	0.86243	CGC		0.547	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182	
NOC3L	64318	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	10	96121511	96121511	+	Missense_Mutation	SNP	C	C	T	rs77771649	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:96121511C>T	ENST00000371361.3	-	2	228	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Missense_Mutation_p.R43Q	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	43					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				CTGTTCTTTTCGGTACTTCTT	0.373													C|||	18	0.00359425	0.0121	0.0029	5008	,	,		19349	0.0		0.0	False		,,,				2504	0.0					.											0								C	GLN/ARG	37,4369	41.6+/-74.8	0,37,2166	280.0	247.0	258.0		128	4.2	1.0	10	dbSNP_132	258	1,8599	1.2+/-3.3	0,1,4299	yes	missense	NOC3L	NM_022451.9	43	0,38,6465	TT,TC,CC		0.0116,0.8398,0.2922	probably-damaging	43/801	96121511	38,12968	2203	4300	6503	SO:0001583	missense	64318			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.128G>A	10.37:g.96121511C>T	ENSP00000360412:p.Arg43Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H5M6|Q9H9D8	Missense_Mutation	SNP	ENST00000371361.3	37	CCDS7433.1	8	0.003663003663003663	6	0.012195121951219513	2	0.0055248618784530384	0	0.0	0	0.0	C	31	5.065118	0.93898	0.008398	1.16E-4	ENSG00000173145	ENST00000371361;ENST00000371350	T;T	0.12672	2.66;2.66	5.09	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.16085	0.0387	N	0.19112	0.55	0.48185	D	0.999601	D	0.89917	1.0	D	0.79108	0.992	T	0.02417	-1.1162	10	0.62326	D	0.03	-4.2335	13.3566	0.60631	0.0:0.9238:0.0:0.0762	.	43	Q8WTT2	NOC3L_HUMAN	Q	43	ENSP00000360412:R43Q;ENSP00000360401:R43Q	ENSP00000360401:R43Q	R	-	2	0	NOC3L	96111501	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.461000	0.80834	1.145000	0.42336	0.561000	0.74099	CGA		0.373	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451	
JAM3	83700	broad.mit.edu;hgsc.bcm.edu	37	11	134009776	134009777	+	Nonsense_Mutation	DNP	CC	CC	AA	rs143947882		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:134009776_134009777CC>AA	ENST00000299106.4	+	2	266_267	c.107_108CC>AA	c.(106-108)tCC>tAA	p.S36*	JAM3_ENST00000529443.2_Nonsense_Mutation_p.S81*|JAM3_ENST00000441717.3_Nonsense_Mutation_p.S36*|JAM3_ENST00000524969.1_3'UTR			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	36	Ig-like V-type.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226)	cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	integrin binding (GO:0005178)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		AATCTCAAATCCAGCAATCGAA	0.441											OREG0021547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0																																										SO:0001587	stop_gained	83700			AF356518	CCDS8494.1, CCDS55799.1, CCDS8494.2	11q25	2013-01-29			ENSG00000166086	ENSG00000166086		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15532	protein-coding gene	gene with protein product		606871					Standard	NM_032801		Approved	JAM-C, JAMC	uc001qhb.3	Q9BX67	OTTHUMG00000167130	Exception_encountered	11.37:g.134009776_134009777delinsAA	ENSP00000299106:p.Ser36*	Somatic	1607	WXS	Illumina HiSeq	Phase_I	B3KWG9|Q8WWL8|Q96FL1	Silent	DNP	ENST00000299106.4	37	CCDS8494.2																																																																																				0.441	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393303.4	NM_032801	
NCAPD3	23310	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	11	134027834	134027834	+	Missense_Mutation	SNP	G	G	A	rs116394634	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:134027834G>A	ENST00000534548.2	-	31	4227	c.4163C>T	c.(4162-4164)aCg>aTg	p.T1388M		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1388					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CTGACTGCACGTTTTTTCTGG	0.453													G|||	21	0.00419329	0.0144	0.0014	5008	,	,		19869	0.0		0.001	False		,,,				2504	0.0					.											0								G	MET/THR	48,4354	49.6+/-84.7	1,46,2154	214.0	220.0	218.0		4163	-5.2	0.0	11	dbSNP_132	218	1,8593	1.2+/-3.3	0,1,4296	yes	missense	NCAPD3	NM_015261.2	81	1,47,6450	AA,AG,GG		0.0116,1.0904,0.377	benign	1388/1499	134027834	49,12947	2201	4297	6498	SO:0001583	missense	23310			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.4163C>T	11.37:g.134027834G>A	ENSP00000433681:p.Thr1388Met	Somatic		WXS	Illumina HiSeq	Phase_I	A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	CCDS31723.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	8.614	0.889716	0.17540	0.010904	1.16E-4	ENSG00000151503	ENST00000534548	T	0.30448	1.53	3.99	-5.24	0.02789	.	1.841410	0.02497	N	0.090091	T	0.12305	0.0299	N	0.22421	0.69	0.09310	N	1	B;B	0.20368	0.032;0.044	B;B	0.13407	0.009;0.004	T	0.12837	-1.0532	10	0.52906	T	0.07	0.2656	1.8603	0.03187	0.2792:0.3818:0.2094:0.1296	.	1388;448	P42695;Q96FA6	CNDD3_HUMAN;.	M	1388	ENSP00000433681:T1388M	ENSP00000433681:T1388M	T	-	2	0	NCAPD3	133533044	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.108000	0.15396	-1.094000	0.03054	0.561000	0.74099	ACG		0.453	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261	
MRPL24	79590	hgsc.bcm.edu;bcgsc.ca	37	1	156708172	156708172	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:156708172C>T	ENST00000361531.2	-	3	378	c.242G>A	c.(241-243)cGg>cAg	p.R81Q	MRPL24_ENST00000368211.4_Missense_Mutation_p.R81Q|MRPL24_ENST00000478899.1_5'Flank			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	81	KOW.				translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTTTCGCTGCCGGATAACTTG	0.562																																						.											0													270.0	249.0	256.0					1																	156708172		2203	4300	6503	SO:0001583	missense	79590			AB051341	CCDS1155.1	1q23.1	2012-11-14			ENSG00000143314	ENSG00000143314		"""Mitochondrial ribosomal proteins / large subunits"""	14037	protein-coding gene	gene with protein product		611836					Standard	NM_145729		Approved	MRP-L18	uc001fpx.1	Q96A35	OTTHUMG00000041296	ENST00000361531.2:c.242G>A	1.37:g.156708172C>T	ENSP00000354525:p.Arg81Gln	Somatic		WXS	Illumina HiSeq	Phase_I	D3DVC8|Q53G65|Q53HT0|Q5SYZ9|Q5SZ00|Q5SZ02|Q96Q70|Q9H7G3	Missense_Mutation	SNP	ENST00000361531.2	37	CCDS1155.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387886	0.61956	.	.	ENSG00000143314	ENST00000361531;ENST00000368211;ENST00000434558;ENST00000412846	.	.	.	5.57	5.57	0.84162	KOW (2);Translation protein SH3-like (1);Ribosomal protein L24, SH3-like (1);	0.000000	0.85682	D	0.000000	T	0.56601	0.1996	L	0.49571	1.57	0.80722	D	1	D	0.69078	0.997	P	0.58077	0.832	T	0.49254	-0.8959	9	0.20519	T	0.43	-21.3163	17.0489	0.86513	0.0:1.0:0.0:0.0	.	81	Q96A35	RM24_HUMAN	Q	81	.	ENSP00000354525:R81Q	R	-	2	0	MRPL24	154974796	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.069000	0.50026	2.633000	0.89246	0.650000	0.86243	CGG		0.562	MRPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098955.1	NM_145729	
RAB1B	81876	broad.mit.edu;hgsc.bcm.edu	37	11	66039636	66039636	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:66039636G>A	ENST00000311481.6	+	3	243	c.96G>A	c.(94-96)acG>acA	p.T32T	RAB1B_ENST00000527397.1_Silent_p.T32T|RP11-867G23.3_ENST00000501708.1_lincRNA	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	32					ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of glycoprotein metabolic process (GO:1903020)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						AGGATGACACGTACACAGAGA	0.532																																						.											0													213.0	205.0	208.0					11																	66039636		2200	4295	6495	SO:0001819	synonymous_variant	81876			AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903		"""RAB, member RAS oncogene"""	18370	protein-coding gene	gene with protein product		612565				9030196	Standard	NM_030981		Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.96G>A	11.37:g.66039636G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K7S1	Silent	SNP	ENST00000311481.6	37	CCDS31613.1																																																																																				0.532	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391886.2	NM_030981	
SUV420H1	51111	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	11	67925896	67925896	+	Silent	SNP	G	G	A	rs149239650		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:67925896G>A	ENST00000304363.4	-	11	2270	c.1917C>T	c.(1915-1917)gaC>gaT	p.D639D		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	639					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GTACCGCGTCGTCTTTTCCAG	0.507													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21360	0.0		0.0	False		,,,				2504	0.0					.											0								G		1,4399	2.1+/-5.4	0,1,2199	92.0	83.0	86.0		1917	-6.6	0.0	11	dbSNP_134	86	2,8586	2.2+/-6.3	0,2,4292	no	coding-synonymous	SUV420H1	NM_017635.3		0,3,6491	AA,AG,GG		0.0233,0.0227,0.0231		639/886	67925896	3,12985	2200	4294	6494	SO:0001819	synonymous_variant	51111			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.1917C>T	11.37:g.67925896G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Silent	SNP	ENST00000304363.4	37	CCDS31623.1																																																																																				0.507	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635	
P4HA3	283208	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	11	73988139	73988139	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:73988139C>T	ENST00000331597.4	-	9	1271	c.1226G>A	c.(1225-1227)cGc>cAc	p.R409H	P4HA3_ENST00000427714.2_Missense_Mutation_p.R409H	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	409						endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					GGCAGCAATGCGGTGGTTGAG	0.522																																						.											0													194.0	148.0	163.0					11																	73988139		2200	4293	6493	SO:0001583	missense	283208			AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(III)"""	608987	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"""			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.1226G>A	11.37:g.73988139C>T	ENSP00000332170:p.Arg409His	Somatic		WXS	Illumina HiSeq	Phase_I	A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Missense_Mutation	SNP	ENST00000331597.4	37	CCDS8230.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352642	0.82132	.	.	ENSG00000149380	ENST00000331597;ENST00000427714	T;T	0.70869	0.98;-0.52	5.2	5.2	0.72013	Prolyl 4-hydroxylase, alpha subunit (1);	0.097922	0.64402	D	0.000002	D	0.85944	0.5815	M	0.88906	2.99	0.43693	D	0.996141	D;D	0.89917	1.0;0.995	D;P	0.68621	0.959;0.679	D	0.88404	0.3017	10	0.87932	D	0	-16.3221	16.28	0.82672	0.0:1.0:0.0:0.0	.	409;409	B4DUD3;Q7Z4N8	.;P4HA3_HUMAN	H	409	ENSP00000332170:R409H;ENSP00000401749:R409H	ENSP00000332170:R409H	R	-	2	0	P4HA3	73665787	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.902000	0.56310	2.691000	0.91804	0.655000	0.94253	CGC		0.522	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	NM_182904	
AXDND1	126859	hgsc.bcm.edu	37	1	179494565	179494568	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	AAAG	AAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:179494565_179494568delAAAG	ENST00000367618.3	+	22	2980_2983	c.2593_2596delAAAG	c.(2593-2598)aaagagfs	p.KE865fs		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	865	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GGAGGAAAATAAAGAGAGAGCAGA	0.358																																						.											0																																										SO:0001589	frameshift_variant	126859			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2593_2596delAAAG	1.37:g.179494565_179494568delAAAG	ENSP00000356590:p.Lys865fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q6AWB2|Q96LJ3|Q96M01	Frame_Shift_Del	DEL	ENST00000367618.3	37	CCDS30948.1																																																																																				0.358	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696	
CCDC60	160777	broad.mit.edu;hgsc.bcm.edu	37	12	119968788	119968788	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:119968788C>T	ENST00000327554.2	+	13	1936	c.1471C>T	c.(1471-1473)Cga>Tga	p.R491*	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	491										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CTTGCGGATTCGACCCCATGT	0.522																																						.											0													126.0	108.0	114.0					12																	119968788		2203	4300	6503	SO:0001587	stop_gained	160777			BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.1471C>T	12.37:g.119968788C>T	ENSP00000333374:p.Arg491*	Somatic		WXS	Illumina HiSeq	Phase_I		Nonsense_Mutation	SNP	ENST00000327554.2	37	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	C	42	9.525726	0.99195	.	.	ENSG00000183273	ENST00000327554	.	.	.	5.55	3.67	0.42095	.	0.238775	0.28760	N	0.014230	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-27.0254	12.2972	0.54854	0.3343:0.6657:0.0:0.0	.	.	.	.	X	491	.	.	R	+	1	2	CCDC60	118453171	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.361000	0.34136	0.624000	0.30286	0.655000	0.94253	CGA		0.522	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499	
EPHA8	2046	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	1	22902937	22902937	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:22902937G>A	ENST00000166244.3	+	3	459	c.387G>A	c.(385-387)tcG>tcA	p.S129S	EPHA8_ENST00000374644.4_Silent_p.S129S|EPHA8_ENST00000538803.1_Silent_p.S129S	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	129	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.S129S(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACCTGGAGTCGGACCGCGACC	0.592																																						.											2	Substitution - coding silent(2)	upper_aerodigestive_tract(2)											65.0	61.0	63.0					1																	22902937		2203	4300	6503	SO:0001819	synonymous_variant	2046			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.387G>A	1.37:g.22902937G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	CCDS225.1																																																																																				0.592	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526	
KRT81	3887	broad.mit.edu;hgsc.bcm.edu	37	12	52681795	52681795	+	Silent	SNP	G	G	A	rs200239075	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:52681795G>A	ENST00000327741.5	-	5	941	c.873C>T	c.(871-873)gcC>gcT	p.A291A	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	291	Coil 2.|Rod.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACTCGGCCTCGGCCCGGCTGC	0.562																																						.											0													97.0	83.0	88.0					12																	52681795		2203	4300	6503	SO:0001819	synonymous_variant	3887			X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.873C>T	12.37:g.52681795G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Silent	SNP	ENST00000327741.5	37	CCDS31805.1																																																																																				0.562	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281	
KRT81	3887	hgsc.bcm.edu	37	12	52681804	52681804	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:52681804G>A	ENST00000327741.5	-	5	932	c.864C>T	c.(862-864)cgC>cgT	p.R288R	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	288	Coil 2.|Rod.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CGGCCCGGCTGCGGGTGACAA	0.567																																						.											0													109.0	92.0	98.0					12																	52681804		2203	4300	6503	SO:0001819	synonymous_variant	3887			X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.864C>T	12.37:g.52681804G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Silent	SNP	ENST00000327741.5	37	CCDS31805.1																																																																																				0.567	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281	
KRT81	3887	hgsc.bcm.edu	37	12	52682214	52682214	+	Silent	SNP	C	C	T	rs141008448	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:52682214C>T	ENST00000327741.5	-	4	734	c.666G>A	c.(664-666)aaG>aaA	p.K222K	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	222	Coil 1B.|Rod.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCAGGTCTGACTTGCGGAGGT	0.622													.|||	11	0.00219649	0.0	0.0	5008	,	,		18781	0.0099		0.0	False		,,,				2504	0.001					.											0													116.0	115.0	116.0					12																	52682214		2203	4300	6503	SO:0001819	synonymous_variant	3887			X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.666G>A	12.37:g.52682214C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Silent	SNP	ENST00000327741.5	37	CCDS31805.1																																																																																				0.622	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281	
IFFO1	25900	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	12	6657689	6657689	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:6657689C>T	ENST00000396840.2	-	6	1293	c.1252G>A	c.(1252-1254)Gac>Aac	p.D418N	IFFO1_ENST00000356896.4_Missense_Mutation_p.D421N|IFFO1_ENST00000465801.1_Missense_Mutation_p.D114N|IFFO1_ENST00000436152.2_Missense_Mutation_p.D114N|IFFO1_ENST00000336604.4_Missense_Mutation_p.D421N			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	418						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						CTGTCACAGTCGTCCTCAAAA	0.642																																						.											0													65.0	65.0	65.0					12																	6657689		2203	4300	6503	SO:0001583	missense	25900			AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.1252G>A	12.37:g.6657689C>T	ENSP00000380052:p.Asp418Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Missense_Mutation	SNP	ENST00000396840.2	37		.	.	.	.	.	.	.	.	.	.	C	23.1	4.373339	0.82573	.	.	ENSG00000010295	ENST00000436152;ENST00000465801;ENST00000336604;ENST00000396840;ENST00000356896;ENST00000423501	D;D;D;D;D	0.95069	-3.6;-3.31;-3.13;-3.13;-3.18	4.55	3.65	0.41850	.	0.057967	0.64402	D	0.000003	D	0.96565	0.8879	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D;D	0.89917	0.984;1.0;0.984;0.984;0.984;1.0	P;D;P;P;P;D	0.91635	0.593;0.999;0.593;0.593;0.593;0.999	D	0.96579	0.9429	10	0.87932	D	0	-21.9407	13.8215	0.63322	0.1544:0.8456:0.0:0.0	.	420;113;421;418;421;122	Q0D2I5-7;Q6P593;Q0D2I5-4;Q0D2I5;Q0D2I5-5;B4DQQ1	.;.;.;IFFO1_HUMAN;.;.	N	114;114;421;418;421;58	ENSP00000390721:D114N;ENSP00000436261:D114N;ENSP00000337593:D421N;ENSP00000380052:D418N;ENSP00000349364:D421N	ENSP00000337593:D421N	D	-	1	0	IFFO1	6527950	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.681000	0.84073	0.878000	0.35920	-0.182000	0.12963	GAC		0.642	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730	
KRT2	3849	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	12	53045674	53045674	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:53045674C>T	ENST00000309680.3	-	1	274	c.253G>A	c.(253-255)Gcc>Acc	p.A85T		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	85	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		ccaccagcggcgccaaagcca	0.622																																						.											0													52.0	37.0	42.0					12																	53045674		2203	4300	6503	SO:0001583	missense	3849				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.253G>A	12.37:g.53045674C>T	ENSP00000310861:p.Ala85Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	C	8.388	0.839044	0.16891	.	.	ENSG00000172867	ENST00000309680	D	0.85629	-2.01	5.27	-3.3	0.05003	.	.	.	.	.	T	0.69333	0.3099	L	0.27053	0.805	0.09310	N	1	B	0.18863	0.031	B	0.11329	0.006	T	0.52208	-0.8606	9	0.22706	T	0.39	.	4.007	0.09605	0.1764:0.4844:0.0701:0.2691	.	85	P35908	K22E_HUMAN	T	85	ENSP00000310861:A85T	ENSP00000310861:A85T	A	-	1	0	KRT2	51331941	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.275000	0.08525	-0.506000	0.06558	-1.373000	0.01185	GCC		0.622	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423	
MPHOSPH8	54737	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	13	20220830	20220830	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:20220830C>T	ENST00000361479.5	+	3	685	c.617C>T	c.(616-618)gCc>gTc	p.A206V	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.A206V	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	206	Lys-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ATTTCTGAAGCCAAAGAAGAA	0.348																																						.											0													22.0	24.0	23.0					13																	20220830		2198	4296	6494	SO:0001583	missense	54737			AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.617C>T	13.37:g.20220830C>T	ENSP00000355388:p.Ala206Val	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	C	8.054	0.766734	0.15983	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.34472	1.38;1.36	6.02	3.3	0.37823	.	0.602723	0.17580	N	0.169162	T	0.17152	0.0412	N	0.13043	0.29	0.21802	N	0.999539	B;B;B	0.17852	0.006;0.01;0.024	B;B;B	0.15052	0.003;0.011;0.012	T	0.30090	-0.9990	10	0.10377	T	0.69	.	5.8271	0.18560	0.0:0.5275:0.2606:0.2119	.	206;206;206	Q99549;Q99549-2;B3KS10	MPP8_HUMAN;.;.	V	206	ENSP00000414663:A206V;ENSP00000355388:A206V	ENSP00000355388:A206V	A	+	2	0	MPHOSPH8	19118830	0.115000	0.22152	1.000000	0.80357	0.482000	0.33219	0.744000	0.26245	0.402000	0.25451	0.650000	0.86243	GCC		0.348	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520	
NCDN	23154	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	1	36028957	36028957	+	Missense_Mutation	SNP	G	G	A	rs571289950		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:36028957G>A	ENST00000373243.2	+	5	1923	c.1540G>A	c.(1540-1542)Gtg>Atg	p.V514M	NCDN_ENST00000356090.4_Missense_Mutation_p.V514M|NCDN_ENST00000373253.3_Missense_Mutation_p.V497M	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	514					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCCTGACAGCGTGGAGATTGG	0.627																																						.											0													104.0	101.0	102.0					1																	36028957		2203	4300	6503	SO:0001583	missense	23154			AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1540G>A	1.37:g.36028957G>A	ENSP00000362340:p.Val514Met	Somatic		WXS	Illumina HiSeq	Phase_I	D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	ENST00000373243.2	37	CCDS392.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768116	0.69878	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243	.	.	.	4.71	4.71	0.59529	.	0.301676	0.31922	N	0.006852	T	0.36413	0.0966	N	0.22421	0.69	0.30719	N	0.748488	D	0.67145	0.996	P	0.50082	0.63	T	0.41466	-0.9507	9	0.72032	D	0.01	.	10.2947	0.43616	0.1028:0.0:0.8972:0.0	.	514	Q9UBB6	NCDN_HUMAN	M	497;514;514	.	ENSP00000348394:V514M	V	+	1	0	NCDN	35801544	0.995000	0.38212	0.991000	0.47740	0.996000	0.88848	2.410000	0.44592	2.157000	0.67596	0.462000	0.41574	GTG		0.627	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284	
MOB3C	148932	broad.mit.edu;hgsc.bcm.edu	37	1	47078805	47078805	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:47078805G>A	ENST00000319928.3	-	2	419	c.189C>T	c.(187-189)caC>caT	p.H63H	MOB3C_ENST00000271139.8_Silent_p.H115H|MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000477318.1_5'UTR|MOB3C_ENST00000371940.1_Silent_p.H86H	NM_201403.2	NP_958805.1	Q70IA8	MOB3C_HUMAN	MOB kinase activator 3C	63							metal ion binding (GO:0046872)										AGTCCACCACGTGCACGGCGA	0.637																																						.											0													113.0	80.0	91.0					1																	47078805		2203	4300	6503	SO:0001819	synonymous_variant	148932			AK091808	CCDS539.1, CCDS540.1	1p34.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000142961	ENSG00000142961		"""MOB kinase activators"""	29800	protein-coding gene	gene with protein product			"""MOB1, Mps One Binder kinase activator-like 2C (yeast)"""	MOBKL2C		12477932	Standard	NM_145279		Approved	MOB1E	uc001cqe.4	Q70IA8	OTTHUMG00000007989	ENST00000319928.3:c.189C>T	1.37:g.47078805G>A		Somatic		WXS	Illumina HiSeq	Phase_I	D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28	Silent	SNP	ENST00000319928.3	37	CCDS540.1																																																																																				0.637	MOB3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145279	
SLC1A7	6512	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	53580601	53580601	+	Missense_Mutation	SNP	C	C	T	rs139757854	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:53580601C>T	ENST00000371494.4	-	3	387	c.260G>A	c.(259-261)cGc>cAc	p.R87H	RP11-334A14.8_ENST00000439621.1_RNA|SLC1A7_ENST00000371491.4_Missense_Mutation_p.R87H	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	87					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		GACGCCCAGGCGGCTAGAGGT	0.662													C|||	7	0.00139776	0.0038	0.0014	5008	,	,		19321	0.001		0.0	False		,,,				2504	0.0				NSCLC(128;80 1811 21245 38490 51715)	.											0								C	HIS/ARG	13,4393	21.2+/-45.6	0,13,2190	81.0	66.0	71.0		260	5.7	1.0	1	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC1A7	NM_006671.4	29	0,14,6489	TT,TC,CC		0.0116,0.2951,0.1076	probably-damaging	87/561	53580601	14,12992	2203	4300	6503	SO:0001583	missense	6512			U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"""Solute carriers"""	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.260G>A	1.37:g.53580601C>T	ENSP00000360549:p.Arg87His	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VVZ0|Q969Z8|Q9BW45	Missense_Mutation	SNP	ENST00000371494.4	37	CCDS574.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	36	5.643268	0.96704	0.002951	1.16E-4	ENSG00000162383	ENST00000371494;ENST00000371491	T;T	0.62498	0.02;0.02	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.85168	0.5635	M	0.93462	3.42	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.74023	0.955;0.982	D	0.88426	0.3032	10	0.87932	D	0	-19.1116	19.8154	0.96566	0.0:1.0:0.0:0.0	.	87;87	Q9BW45;O00341	.;EAA5_HUMAN	H	87	ENSP00000360549:R87H;ENSP00000360546:R87H	ENSP00000360546:R87H	R	-	2	0	SLC1A7	53353189	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.777000	0.68931	2.699000	0.92147	0.655000	0.94253	CGC		0.662	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671	
RTF1	23168	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	15	41769459	41769459	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:41769459C>T	ENST00000389629.4	+	13	1669	c.1657C>T	c.(1657-1659)Cgg>Tgg	p.R553W		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	553					DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GGACCGCCAGCGGACCAAGAA	0.547																																						.											0													113.0	123.0	120.0					15																	41769459		2203	4300	6503	SO:0001583	missense	23168			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1657C>T	15.37:g.41769459C>T	ENSP00000374280:p.Arg553Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q96BX6	Missense_Mutation	SNP	ENST00000389629.4	37	CCDS32200.2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078271	0.76528	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.42	3.49	0.39957	.	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.80074	-0.1534	9	0.72032	D	0.01	-4.1498	14.5409	0.67995	0.2674:0.7326:0.0:0.0	.	553	Q92541	RTF1_HUMAN	W	553	.	ENSP00000374280:R553W	R	+	1	2	RTF1	39556751	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.470000	0.60175	0.808000	0.34231	-0.311000	0.09066	CGG		0.547	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138	
HOMER2	9455	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	15	83527811	83527811	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:83527811T>C	ENST00000304231.8	-	5	689	c.497A>G	c.(496-498)aAt>aGt	p.N166S	HOMER2_ENST00000399166.2_Missense_Mutation_p.N155S|HOMER2_ENST00000426485.1_Missense_Mutation_p.N166S|HOMER2_ENST00000450735.2_Missense_Mutation_p.N155S	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	166					behavioral response to cocaine (GO:0048148)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|chemical homeostasis within a tissue (GO:0048875)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				cervix(1)|endometrium(2)|lung(6)	9						CAGCTTGTCATTCTCAGACTT	0.502																																						.											0													134.0	139.0	137.0					15																	83527811		2008	4168	6176	SO:0001583	missense	9455			AF093264	CCDS45334.1, CCDS45336.1	15q24.3	2008-02-05				ENSG00000103942			17513	protein-coding gene	gene with protein product		604799				9808459, 9808458	Standard	NM_199330		Approved	CPD, Cupidin, Vesl-2, HOMER-2B, HOMER-2, HOMER-2A	uc002bjg.3	Q9NSB8		ENST00000304231.8:c.497A>G	15.37:g.83527811T>C	ENSP00000305632:p.Asn166Ser	Somatic		WXS	Illumina HiSeq	Phase_I	O95269|O95349|Q9NSB6|Q9NSB7|Q9UNT7	Missense_Mutation	SNP	ENST00000304231.8	37	CCDS45334.1	.	.	.	.	.	.	.	.	.	.	t	13.46	2.244416	0.39697	.	.	ENSG00000103942	ENST00000304231;ENST00000450735;ENST00000426485;ENST00000399166	T;T;T;T	0.77358	2.11;-1.09;2.4;2.45	5.92	5.92	0.95590	.	0.204008	0.49916	D	0.000127	T	0.77798	0.4184	M	0.80982	2.52	0.48511	D	0.999668	B;P;P;P	0.46142	0.041;0.835;0.873;0.835	B;B;B;B	0.38156	0.096;0.18;0.266;0.238	T	0.79125	-0.1932	10	0.33940	T	0.23	.	15.5454	0.76093	0.0:0.0:0.0:1.0	.	155;166;155;166	F8W826;E9PAZ1;Q9NSB8-2;Q9NSB8	.;.;.;HOME2_HUMAN	S	166;155;166;155	ENSP00000305632:N166S;ENSP00000407634:N155S;ENSP00000394293:N166S;ENSP00000382119:N155S	ENSP00000305632:N166S	N	-	2	0	HOMER2	81324865	1.000000	0.71417	0.933000	0.37362	0.573000	0.36030	7.135000	0.77276	2.260000	0.74910	0.529000	0.55759	AAT		0.502	HOMER2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418689.1		
DCUN1D3	123879	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	16	20873571	20873571	+	Missense_Mutation	SNP	C	C	T	rs368022474		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:20873571C>T	ENST00000324344.4	-	2	575	c.290G>A	c.(289-291)cGc>cAc	p.R97H	DCUN1D3_ENST00000563934.1_Missense_Mutation_p.R97H|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	97	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.				negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)	perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		ATCCTTGTAGCGCCTGAACAG	0.542																																						.											0								C	HIS/ARG	0,4402		0,0,2201	162.0	144.0	150.0		290	5.9	1.0	16		150	2,8598	2.2+/-6.3	0,2,4298	no	missense	DCUN1D3	NM_173475.2	29	0,2,6499	TT,TC,CC		0.0233,0.0,0.0154	benign	97/305	20873571	2,13000	2201	4300	6501	SO:0001583	missense	123879			BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215			28734	protein-coding gene	gene with protein product			"""DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)"""			15988528	Standard	NM_173475		Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.290G>A	16.37:g.20873571C>T	ENSP00000319482:p.Arg97His	Somatic		WXS	Illumina HiSeq	Phase_I	B3KVY4	Missense_Mutation	SNP	ENST00000324344.4	37	CCDS10592.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744633	0.69418	0.0	2.33E-4	ENSG00000188215	ENST00000324344	D	0.94092	-3.35	5.92	5.92	0.95590	Domain of unknown function DUF298 (1);	0.090703	0.85682	D	0.000000	D	0.91026	0.7177	L	0.41356	1.27	0.51012	D	0.999909	B	0.21309	0.054	B	0.12837	0.008	D	0.86060	0.1531	10	0.51188	T	0.08	-6.6182	20.3214	0.98679	0.0:1.0:0.0:0.0	.	97	Q8IWE4	DCNL3_HUMAN	H	97	ENSP00000319482:R97H	ENSP00000319482:R97H	R	-	2	0	DCUN1D3	20781072	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	2.804000	0.96469	0.655000	0.94253	CGC		0.542	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254415.2	NM_173475	
ATP2A3	489	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	17	3839671	3839671	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:3839671G>A	ENST00000352011.3	-	16	2468	c.2414C>T	c.(2413-2415)aCg>aTg	p.T805M	ATP2A3_ENST00000309890.7_Missense_Mutation_p.T805M|ATP2A3_ENST00000397035.3_Missense_Mutation_p.T805M|ATP2A3_ENST00000359983.3_Missense_Mutation_p.T805M|ATP2A3_ENST00000397043.3_Missense_Mutation_p.T805M|ATP2A3_ENST00000397041.3_Missense_Mutation_p.T805M|ATP2A3_ENST00000397039.1_De_novo_Start_InFrame			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	805					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.T805M(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCCCAGAGCCGTGGCAGGTAG	0.622																																					GBM(32;29 774 15719 37967)	.											1	Substitution - Missense(1)	large_intestine(1)											76.0	78.0	77.0					17																	3839671		2203	4300	6503	SO:0001583	missense	489				CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.2414C>T	17.37:g.3839671G>A	ENSP00000301387:p.Thr805Met	Somatic		WXS	Illumina HiSeq	Phase_I	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131325	0.77549	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.95821	-3.82;-3.82;-3.82;-3.82;-3.82;-3.82	4.16	4.16	0.48862	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97617	0.9219	M	0.83384	2.64	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.987;0.996;0.995;0.995;0.987	D;P;P;P;P;P	0.87578	0.998;0.52;0.551;0.52;0.52;0.52	D	0.97484	1.0049	10	0.49607	T	0.09	.	16.7249	0.85419	0.0:0.0:1.0:0.0	.	805;805;805;805;805;805	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	M	805	ENSP00000380236:T805M;ENSP00000301387:T805M;ENSP00000353072:T805M;ENSP00000380234:T805M;ENSP00000312577:T805M;ENSP00000380229:T805M	ENSP00000312577:T805M	T	-	2	0	ATP2A3	3786420	1.000000	0.71417	0.963000	0.40424	0.828000	0.46876	9.657000	0.98554	2.607000	0.88179	0.561000	0.74099	ACG		0.622	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953	
GRB7	2886	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	17	37900401	37900401	+	Missense_Mutation	SNP	C	C	T	rs373836261		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:37900401C>T	ENST00000309156.4	+	7	999	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	GRB7_ENST00000394211.3_Missense_Mutation_p.R248C|GRB7_ENST00000394204.1_Missense_Mutation_p.R248C|GRB7_ENST00000394209.2_Missense_Mutation_p.R248C|GRB7_ENST00000309185.3_Missense_Mutation_p.R248C|GRB7_ENST00000445327.2_Missense_Mutation_p.R271C	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	248	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCTTTGGAAACGCTTTTTCTG	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17930	0.0		0.0	False		,,,				2504	0.0					.											0								C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	173.0	173.0	173.0		742,811,742,742	5.5	1.0	17		173	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	GRB7	NM_001030002.2,NM_001242442.1,NM_001242443.1,NM_005310.3	180,180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/533,271/556,248/533,248/533	37900401	1,13005	2203	4300	6503	SO:0001583	missense	2886			D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.742C>T	17.37:g.37900401C>T	ENSP00000310771:p.Arg248Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328103	0.81690	0.0	1.16E-4	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02	5.47	5.47	0.80525	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.111742	0.64402	D	0.000015	T	0.39600	0.1084	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.985	T	0.11397	-1.0589	10	0.87932	D	0	-28.253	13.697	0.62587	0.155:0.845:0.0:0.0	.	248;248	Q14451-2;Q14451	.;GRB7_HUMAN	C	248;248;248;248;271;248	ENSP00000311752:R248C;ENSP00000310771:R248C;ENSP00000377761:R248C;ENSP00000377759:R248C;ENSP00000403459:R271C;ENSP00000377754:R248C	ENSP00000310771:R248C	R	+	1	0	GRB7	35153927	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.202000	0.51067	2.571000	0.86741	0.561000	0.74099	CGC		0.567	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310	
TMEM99	147184	hgsc.bcm.edu;bcgsc.ca	37	17	38990812	38990812	+	Missense_Mutation	SNP	C	C	T	rs189743949		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:38990812C>T	ENST00000301665.3	+	3	348	c.44C>T	c.(43-45)tCg>tTg	p.S15L		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	15						integral component of membrane (GO:0016021)				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				TGTGTCCCCTCGCTCTGTTGT	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		17027	0.0		0.001	False		,,,				2504	0.0					.											0								C	LEU/SER,LEU/SER,LEU/SER	1,4215		0,1,2107	113.0	109.0	111.0		44,44,44	-0.3	0.0	17		111	2,8456		0,2,4227	yes	missense,missense,missense	TMEM99	NM_145274.3,NM_001195387.1,NM_001195386.1	145,145,145	0,3,6334	TT,TC,CC		0.0236,0.0237,0.0237	,,	15/259,15/259,15/259	38990812	3,12671	2108	4229	6337	SO:0001583	missense	147184			AK097454	CCDS42319.1	17q21.2	2008-11-06			ENSG00000167920	ENSG00000167920			28305	protein-coding gene	gene with protein product						12477932	Standard	NM_001195386		Approved	MGC21518	uc021txc.1	Q8N816	OTTHUMG00000133579	ENST00000301665.3:c.44C>T	17.37:g.38990812C>T	ENSP00000301665:p.Ser15Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B4DQ34|Q96BP9	Missense_Mutation	SNP	ENST00000301665.3	37	CCDS42319.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	0.059	-1.229268	0.01518	2.37E-4	2.36E-4	ENSG00000167920	ENST00000436612;ENST00000301665	T;T	0.29142	1.58;1.58	0.131	-0.261	0.12963	.	.	.	.	.	T	0.12987	0.0315	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.22068	-1.0227	6	0.87932	D	0	.	.	.	.	.	15	Q8N816	TMM99_HUMAN	L	15	ENSP00000390036:S15L;ENSP00000301665:S15L	ENSP00000301665:S15L	S	+	2	0	TMEM99	36244338	0.010000	0.17322	0.011000	0.14972	0.011000	0.07611	-1.070000	0.03440	-1.420000	0.02009	-1.450000	0.01041	TCG		0.552	TMEM99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257681.1	NM_145274	
RNF213	57674	hgsc.bcm.edu;mdanderson.org	37	17	78318717	78318717	+	Silent	SNP	G	G	A	rs140158248	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:78318717G>A	ENST00000582970.1	+	29	6725	c.6582G>A	c.(6580-6582)ccG>ccA	p.P2194P	RNF213_ENST00000508628.2_Silent_p.P2243P|RNF213_ENST00000336301.6_Silent_p.P267P	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2194					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGGCACCCCGGAGGAATGCC	0.473													G|||	11	0.00219649	0.0076	0.0	5008	,	,		21249	0.001		0.0	False		,,,				2504	0.0					.											0								G		28,4378	34.3+/-65.2	0,28,2175	93.0	94.0	94.0		6729	-11.1	0.0	17	dbSNP_134	94	0,8600		0,0,4300	no	coding-synonymous	RNF213	NM_020914.4		0,28,6475	AA,AG,GG		0.0,0.6355,0.2153		2243/5257	78318717	28,12978	2203	4300	6503	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.6582G>A	17.37:g.78318717G>A		Somatic		WXS	Illumina HiSeq	Phase_I	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	CCDS58606.1																																																																																				0.473	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	
ZBTB7C	201501	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	18	45567082	45567082	+	Missense_Mutation	SNP	C	C	T	rs200362895		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:45567082C>T	ENST00000588982.1	-	3	898	c.397G>A	c.(397-399)Ggg>Agg	p.G133R	ZBTB7C_ENST00000590800.1_Missense_Mutation_p.G133R|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.G133R|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.G133R|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.G133R			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	133	Asp-rich.|Glu-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						tcctcccccccgtcccccCCA	0.582																																						.											0													141.0	98.0	112.0					18																	45567082		2203	4300	6503	SO:0001583	missense	201501			Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.397G>A	18.37:g.45567082C>T	ENSP00000468782:p.Gly133Arg	Somatic		WXS	Illumina HiSeq	Phase_I	O73453	Missense_Mutation	SNP	ENST00000588982.1	37	CCDS32830.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334375	0.24253	.	.	ENSG00000184828	ENST00000535628;ENST00000332053	T;T	0.08984	3.03;3.03	4.93	4.93	0.64822	.	0.313831	0.32987	N	0.005419	T	0.07773	0.0195	N	0.14661	0.345	0.31493	N	0.665741	P;P;D	0.58268	0.501;0.501;0.982	B;B;P	0.44732	0.122;0.098;0.459	T	0.06534	-1.0821	10	0.34782	T	0.22	.	18.1181	0.89563	0.0:1.0:0.0:0.0	.	133;133;133	B4DKU0;B2RG49;A1YPR0	.;.;ZBT7C_HUMAN	R	133	ENSP00000439781:G133R;ENSP00000328732:G133R	ENSP00000328732:G133R	G	-	1	0	ZBTB7C	43821080	0.350000	0.24878	0.016000	0.15963	0.168000	0.22595	4.459000	0.60102	2.285000	0.76669	0.561000	0.74099	GGG		0.582	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360	
WDR7	23335	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	18	54358459	54358459	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:54358459G>A	ENST00000254442.3	+	8	941	c.730G>A	c.(730-732)Gga>Aga	p.G244R	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.G244R	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	244					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GTTCGATGCCGGAGACTATTC	0.398																																						.											0													123.0	132.0	129.0					18																	54358459		2203	4300	6503	SO:0001583	missense	23335			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.730G>A	18.37:g.54358459G>A	ENSP00000254442:p.Gly244Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	32	5.130878	0.94473	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.03920	3.76;3.76	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.052701	0.85682	D	0.000000	T	0.13713	0.0332	M	0.66939	2.045	0.80722	D	1	D;D	0.59767	0.986;0.968	P;B	0.51516	0.672;0.235	T	0.02026	-1.1227	10	0.30078	T	0.28	.	19.2552	0.93943	0.0:0.0:1.0:0.0	.	244;244	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	R	244	ENSP00000254442:G244R;ENSP00000350187:G244R	ENSP00000254442:G244R	G	+	1	0	WDR7	52509457	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.810000	0.86072	2.729000	0.93468	0.460000	0.39030	GGA		0.398	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1		
TBXA2R	6915	hgsc.bcm.edu	37	19	3595775	3595775	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:3595775C>T	ENST00000375190.4	-	3	1336	c.943G>A	c.(943-945)Gtg>Atg	p.V315M	TBXA2R_ENST00000411851.3_Missense_Mutation_p.V315M|TBXA2R_ENST00000589966.1_Missense_Mutation_p.R185H|TBXA2R_ENST00000587717.1_5'Flank	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	315					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CGCCGGAGCACGGCGCGGCGG	0.677																																						.											0													17.0	22.0	21.0					19																	3595775		2172	4275	6447	SO:0001583	missense	6915				CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"""GPCR / Class A : Prostanoid receptors"""	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.943G>A	19.37:g.3595775C>T	ENSP00000364336:p.Val315Met	Somatic		WXS	Illumina HiSeq	Phase_I	O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	ENST00000375190.4	37	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.732336	0.69189	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	T;T	0.39229	1.09;1.09	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000001	T	0.55641	0.1933	L	0.32530	0.975	0.51767	D	0.99993	D	0.89917	1.0	D	0.87578	0.998	T	0.59043	-0.7528	10	0.87932	D	0	-38.9854	17.4889	0.87698	0.0:1.0:0.0:0.0	.	315	P21731	TA2R_HUMAN	M	315	ENSP00000393333:V315M;ENSP00000364336:V315M	ENSP00000364336:V315M	V	-	1	0	TBXA2R	3546775	1.000000	0.71417	0.825000	0.32803	0.106000	0.19336	5.784000	0.68990	2.486000	0.83907	0.561000	0.74099	GTG		0.677	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2		
LENG8	114823	hgsc.bcm.edu;mdanderson.org	37	19	54966579	54966579	+	Silent	SNP	C	C	T	rs889147	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:54966579C>T	ENST00000326764.5	+	8	1337	c.858C>T	c.(856-858)ccC>ccT	p.P286P	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	249										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CTGGGAAGCCCGATGACTGGC	0.617																																						.											0													51.0	59.0	56.0					19																	54966579		2202	4300	6502	SO:0001819	synonymous_variant	114823			AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.858C>T	19.37:g.54966579C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B0VJY9|Q8IZ27|Q8NCX6	Silent	SNP	ENST00000326764.5	37	CCDS12894.1																																																																																				0.617	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925	
GPR108	56927	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	6733232	6733232	+	Silent	SNP	G	G	A	rs77003966	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:6733232G>A	ENST00000264080.7	-	9	830	c.804C>T	c.(802-804)tcC>tcT	p.S268S	GPR108_ENST00000598626.1_5'Flank|GPR108_ENST00000430424.4_Silent_p.S26S	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	268						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GGAAGCAGGCGGACATGACCA	0.627													G|||	3	0.000599042	0.0023	0.0	5008	,	,		16773	0.0		0.0	False		,,,				2504	0.0					.											0								G		9,4243		0,9,2117	60.0	70.0	67.0		804	-6.2	0.9	19	dbSNP_132	67	0,8446		0,0,4223	no	coding-synonymous	GPR108	NM_001080452.1		0,9,6340	AA,AG,GG		0.0,0.2117,0.0709		268/544	6733232	9,12689	2126	4223	6349	SO:0001819	synonymous_variant	56927				CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"""GPCR / Unclassified : 7TM orphan receptors"""	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.804C>T	19.37:g.6733232G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B9EJD7	Silent	SNP	ENST00000264080.7	37	CCDS42479.1																																																																																				0.627	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2		
ZNF776	284309	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	19	58264681	58264681	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:58264681C>T	ENST00000317178.5	+	3	446	c.183C>T	c.(181-183)gaC>gaT	p.D61D	AC003006.7_ENST00000594684.1_Silent_p.D61D|ZNF776_ENST00000431353.1_3'UTR	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	61	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		GAGCAAAAGACGAGACACCTT	0.443																																						.											0													122.0	124.0	123.0					19																	58264681		2203	4300	6503	SO:0001819	synonymous_variant	284309			AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"""Zinc fingers, C2H2-type"", ""-"""	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.183C>T	19.37:g.58264681C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZS36|Q8N968	Silent	SNP	ENST00000317178.5	37	CCDS12962.2																																																																																				0.443	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2	NM_173632	
ZNF343	79175	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	20	2464066	2464066	+	Missense_Mutation	SNP	G	G	A	rs139834625	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:2464066G>A	ENST00000278772.4	-	6	2028	c.1541C>T	c.(1540-1542)aCg>aTg	p.T514M	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	514					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						ATTTGAGTGCGTCCTCTGGTG	0.493													G|||	24	0.00479233	0.0166	0.0014	5008	,	,		21849	0.0		0.001	False		,,,				2504	0.0					.											0								G	MET/THR	37,4369	42.3+/-75.8	0,37,2166	132.0	121.0	125.0		1541	-4.2	0.0	20	dbSNP_134	125	0,8600		0,0,4300	yes	missense	ZNF343	NM_024325.4	81	0,37,6466	AA,AG,GG		0.0,0.8398,0.2845	probably-damaging	514/600	2464066	37,12969	2203	4300	6503	SO:0001583	missense	79175			AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.1541C>T	20.37:g.2464066G>A	ENSP00000278772:p.Thr514Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Missense_Mutation	SNP	ENST00000278772.4	37	CCDS13028.1	8	0.003663003663003663	7	0.014227642276422764	0	0.0	0	0.0	1	0.0013192612137203166	G	11.96	1.794078	0.31777	0.008398	0.0	ENSG00000088876	ENST00000278772	T	0.54279	0.58	2.57	-4.18	0.03846	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.53384	0.1793	L	0.53561	1.675	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.57236	-0.7846	9	0.59425	D	0.04	.	9.4035	0.38447	0.7197:0.0:0.2803:0.0	.	514	Q6P1L6	ZN343_HUMAN	M	514	ENSP00000278772:T514M	ENSP00000278772:T514M	T	-	2	0	ZNF343	2412066	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.510000	0.06328	-1.297000	0.02351	-0.216000	0.12614	ACG		0.493	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325	
EDN3	1908	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	20	57899467	57899467	+	Missense_Mutation	SNP	G	G	A	rs11570351	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:57899467G>A	ENST00000337938.2	+	5	1056	c.670G>A	c.(670-672)Gct>Act	p.A224T	EDN3_ENST00000371025.3_3'UTR|EDN3_ENST00000395654.3_Missense_Mutation_p.A210T|EDN3_ENST00000311585.7_3'UTR|EDN3_ENST00000371028.2_Missense_Mutation_p.A224T	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	224			A -> T (in HSCR4; dbSNP:rs11570351). {ECO:0000269|PubMed:9359047}.		blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inositol phosphate-mediated signaling (GO:0048016)|melanocyte differentiation (GO:0030318)|multicellular organismal development (GO:0007275)|neural crest cell migration (GO:0001755)|neuron differentiation (GO:0030182)|neutrophil chemotaxis (GO:0030593)|peptide hormone secretion (GO:0030072)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|regulation of developmental pigmentation (GO:0048070)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|signal transduction (GO:0007165)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					ACTCGCCCTCGCTCCATCTAC	0.592													G|||	7	0.00139776	0.0053	0.0	5008	,	,		15172	0.0		0.0	False		,,,				2504	0.0					.											0			GRCh37	CM972864	EDN3	M	rs11570351	G	THR/ALA,,THR/ALA,THR/ALA	21,4385	28.1+/-56.4	0,21,2182	93.0	94.0	94.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	670,,628,670	0.2	0.0	20	dbSNP_120	94	1,8599	1.2+/-3.3	0,1,4299	yes	missense,utr-3,missense,missense	EDN3	NM_000114.2,NM_207032.1,NM_207033.1,NM_207034.1	58,,58,58	0,22,6481	AA,AG,GG		0.0116,0.4766,0.1692	benign,,benign,benign	224/239,,210/225,224/239	57899467	22,12984	2203	4300	6503	SO:0001583	missense	1908			X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205		"""Endogenous ligands"""	3178	protein-coding gene	gene with protein product		131242					Standard	NM_000114		Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000337938.2:c.670G>A	20.37:g.57899467G>A	ENSP00000337128:p.Ala224Thr	Somatic		WXS	Illumina HiSeq	Phase_I	E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Missense_Mutation	SNP	ENST00000337938.2	37	CCDS13477.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	10.61	1.399258	0.25291	0.004766	1.16E-4	ENSG00000124205	ENST00000337938;ENST00000371028;ENST00000395654	D;D;D	0.96232	-2.15;-2.15;-3.95	4.51	0.201	0.15186	.	.	.	.	.	D	0.86439	0.5933	N	0.22421	0.69	0.09310	N	1	B;B	0.32350	0.366;0.251	B;B	0.23419	0.046;0.021	T	0.80797	-0.1222	9	0.62326	D	0.03	.	4.04	0.09746	0.2984:0.1754:0.5262:0.0	rs11570351	210;224	P14138-2;P14138	.;EDN3_HUMAN	T	224;224;210	ENSP00000337128:A224T;ENSP00000360067:A224T;ENSP00000379015:A210T	ENSP00000337128:A224T	A	+	1	0	EDN3	57332862	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.158000	0.10070	-0.021000	0.14009	-0.251000	0.11542	GCT		0.592	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	NM_000114	
BUB1	699	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	2	111416221	111416221	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:111416221A>G	ENST00000302759.6	-	12	1493	c.1375T>C	c.(1375-1377)Tca>Cca	p.S459P	BUB1_ENST00000409311.1_Missense_Mutation_p.S459P|BUB1_ENST00000535254.1_Missense_Mutation_p.S439P	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	459	Essential for loading of BUBR1, MAD1L1 and MAD2L1 to kinetochores.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ACGGTGGGTGATGGCTGCACT	0.433																																						.											0													225.0	192.0	203.0					2																	111416221		2203	4300	6503	SO:0001583	missense	699			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1375T>C	2.37:g.111416221A>G	ENSP00000302530:p.Ser459Pro	Somatic		WXS	Illumina HiSeq	Phase_I	E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.600316	0.87055	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.62639	0.87;0.01;1.15	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.77363	0.4119	M	0.65498	2.005	0.51012	D	0.999905	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.79359	-0.1836	10	0.72032	D	0.01	-18.7989	14.5065	0.67755	1.0:0.0:0.0:0.0	.	439;459;459	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	P	439;459;459;459	ENSP00000441013:S439P;ENSP00000386701:S459P;ENSP00000302530:S459P	ENSP00000302530:S459P	S	-	1	0	BUB1	111132694	1.000000	0.71417	0.835000	0.33067	0.976000	0.68499	7.143000	0.77348	2.367000	0.80283	0.528000	0.53228	TCA		0.433	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336	
LTN1	26046	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	21	30307615	30307615	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr21:30307615G>A	ENST00000361371.5	-	27	4770	c.4691C>T	c.(4690-4692)gCt>gTt	p.A1564V	LTN1_ENST00000389194.2_Missense_Mutation_p.A1610V			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1564					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GACTGAACAAGCCAAGTGTGG	0.333																																						.											0													92.0	80.0	84.0					21																	30307615		2203	4300	6503	SO:0001583	missense	26046			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.4691C>T	21.37:g.30307615G>A	ENSP00000354977:p.Ala1564Val	Somatic		WXS	Illumina HiSeq	Phase_I	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37		.	.	.	.	.	.	.	.	.	.	G	29.1	4.977803	0.92982	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.24538	1.85;1.86	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.44891	0.1315	L	0.41824	1.3	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.25572	-1.0128	10	0.54805	T	0.06	.	19.0456	0.93018	0.0:0.0:1.0:0.0	.	1564	O94822	LTN1_HUMAN	V	1610;1564	ENSP00000373846:A1610V;ENSP00000354977:A1564V	ENSP00000354977:A1564V	A	-	2	0	LTN1	29229486	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.657000	0.98554	2.738000	0.93877	0.591000	0.81541	GCT		0.333	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565	
PIKFYVE	200576	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	209214769	209214769	+	Missense_Mutation	SNP	C	C	T	rs147015179		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:209214769C>T	ENST00000264380.4	+	36	5554	c.5396C>T	c.(5395-5397)aCa>aTa	p.T1799I		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1799	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.T1799I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GGAGGAGATACACAAAAGAAG	0.348													C|||	1	0.000199681	0.0	0.0014	5008	,	,		13680	0.0		0.0	False		,,,				2504	0.0					.											1	Substitution - Missense(1)	large_intestine(1)						C	ILE/THR	1,4405	2.1+/-5.4	0,1,2202	115.0	117.0	116.0		5396	4.9	1.0	2	dbSNP_134	116	0,8598		0,0,4299	no	missense	PIKFYVE	NM_015040.3	89	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	1799/2099	209214769	1,13003	2203	4299	6502	SO:0001583	missense	200576			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.5396C>T	2.37:g.209214769C>T	ENSP00000264380:p.Thr1799Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.04	2.417161	0.42918	2.27E-4	0.0	ENSG00000115020	ENST00000264380	T	0.29397	1.57	5.75	4.87	0.63330	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.527367	0.21560	N	0.072593	T	0.16685	0.0401	N	0.14661	0.345	0.80722	D	1	B	0.17038	0.02	B	0.15484	0.013	T	0.07195	-1.0785	10	0.37606	T	0.19	0.2043	6.1812	0.20472	0.1366:0.6582:0.1323:0.0728	.	1799	Q9Y2I7	FYV1_HUMAN	I	1799	ENSP00000264380:T1799I	ENSP00000264380:T1799I	T	+	2	0	PIKFYVE	208923014	0.996000	0.38824	0.959000	0.39883	0.981000	0.71138	2.550000	0.45811	1.436000	0.47453	0.655000	0.94253	ACA		0.348	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040	
PISD	23761	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	22	32019743	32019743	+	Intron	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:32019743G>A	ENST00000439502.2	-	4	545				PISD_ENST00000266095.5_Missense_Mutation_p.T49I|PISD_ENST00000382151.2_Missense_Mutation_p.T49I|PISD_ENST00000478893.1_5'UTR|PISD_ENST00000336566.4_Intron|PISD_ENST00000397500.1_Missense_Mutation_p.T49I			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylserine decarboxylase activity (GO:0004609)			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	GTAGAGGACGGTCAAGGGCCA	0.672																																						.											0													106.0	85.0	92.0					22																	32019743		2203	4300	6503	SO:0001627	intron_variant	23761				CCDS13899.1	22q12.2	2011-01-25			ENSG00000241878	ENSG00000241878	4.1.1.65		8999	protein-coding gene	gene with protein product		612770				10591208	Standard	NM_014338		Approved	dJ858B16.2, PSDC	uc003alk.2	Q9UG56	OTTHUMG00000030252	ENST00000439502.2:c.322-1872C>T	22.37:g.32019743G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B1AKM7|O43207|O95535|Q6IC28|Q96GQ2|Q9UGA9	Missense_Mutation	SNP	ENST00000439502.2	37		.	.	.	.	.	.	.	.	.	.	G	19.23	3.786977	0.70337	.	.	ENSG00000241878	ENST00000382151;ENST00000266095;ENST00000397500;ENST00000451635;ENST00000422020;ENST00000442379;ENST00000431201;ENST00000429683	.	.	.	5.61	4.6	0.57074	.	.	.	.	.	T	0.56790	0.2009	M	0.63843	1.955	0.43187	D	0.995015	B;P	0.37276	0.139;0.589	B;B	0.38378	0.039;0.272	T	0.60944	-0.7162	8	0.56958	D	0.05	.	13.5452	0.61699	0.0747:0.0:0.9253:0.0	.	49;49	B1AKM6;Q9UG56-2	.;.	I	49	.	ENSP00000266095:T49I	T	-	2	0	PISD	30349743	1.000000	0.71417	0.881000	0.34555	0.988000	0.76386	6.289000	0.72696	1.370000	0.46153	0.591000	0.81541	ACC		0.672	PISD-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000075106.4		
APOBEC3G	60489	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	22	39482315	39482315	+	Missense_Mutation	SNP	G	G	A	rs17000736	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:39482315G>A	ENST00000407997.3	+	6	1124	c.767G>A	c.(766-768)cGc>cAc	p.R256H	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R256H	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	256	Necessary for homooligomerization.		R -> H (in dbSNP:rs17000736).		base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					CTTGAAGGCCGCCATGCAGAG	0.498													G|||	19	0.00379393	0.0144	0.0	5008	,	,		17133	0.0		0.0	False		,,,				2504	0.0					.											0								G	HIS/ARG	68,4338		0,68,2135	77.0	80.0	79.0		767	-0.7	0.0	22	dbSNP_123	79	0,8600		0,0,4300	yes	missense	APOBEC3G	NM_021822.3	29	0,68,6435	AA,AG,GG		0.0,1.5433,0.5228	probably-damaging	256/385	39482315	68,12938	2203	4300	6503	SO:0001583	missense	60489			AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"""Apolipoprotein B mRNA editing enzymes"""	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.767G>A	22.37:g.39482315G>A	ENSP00000385057:p.Arg256His	Somatic		WXS	Illumina HiSeq	Phase_I	B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	ENST00000407997.3	37	CCDS13984.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	.	9.142	1.014009	0.19277	0.015433	0.0	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.64803	-0.12;-0.12	1.65	-0.725	0.11174	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.49541	0.1563	L	0.43646	1.37	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48281	-0.9049	9	0.41790	T	0.15	.	4.413	0.11443	0.1617:0.2335:0.6048:0.0	rs17000736;rs17000736	256	Q9HC16	ABC3G_HUMAN	H	256	ENSP00000413376:R256H;ENSP00000385057:R256H	ENSP00000385057:R256H	R	+	2	0	APOBEC3G	37812261	0.968000	0.33430	0.002000	0.10522	0.018000	0.09664	2.037000	0.41174	-0.131000	0.11578	-0.315000	0.08773	CGC		0.498	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321219.1	NM_021822	
SHANK3	85358	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	22	51117231	51117231	+	Silent	SNP	C	C	T	rs79762996	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:51117231C>T	ENST00000414786.2	+	5	710	c.483C>T	c.(481-483)aaC>aaT	p.N161N	SHANK3_ENST00000262795.3_Silent_p.N161N|SHANK3_ENST00000445220.2_Silent_p.N161N			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	161					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AGCTGGACAACGCCACGGACC	0.652													C|||	16	0.00319489	0.0	0.0014	5008	,	,		19825	0.0149		0.0	False		,,,				2504	0.0					.											0													42.0	46.0	45.0					22																	51117231		2155	4252	6407	SO:0001819	synonymous_variant	85358			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.483C>T	22.37:g.51117231C>T		Somatic		WXS	Illumina HiSeq	Phase_I	D7UT47|Q8TET3	Silent	SNP	ENST00000414786.2	37																																																																																					0.652	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420	
OXER1	165140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	42990143	42990143	+	Missense_Mutation	SNP	G	G	A	rs374132247		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:42990143G>A	ENST00000378661.2	-	1	1258	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	393					G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						TCCCGGTAGCGCCACTGCCTG	0.677													.|||	1	0.000199681	0.0	0.0	5008	,	,		18890	0.0		0.0	False		,,,				2504	0.001					.											0								G	CYS/ARG	0,4406		0,0,2203	44.0	47.0	46.0		1177	-0.1	0.0	2		46	2,8598	2.2+/-6.3	0,2,4298	no	missense	OXER1	NM_148962.4	180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	393/424	42990143	2,13004	2203	4300	6503	SO:0001583	missense	165140			AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"""GPCR / Class A : Leukotriene receptors"""	24884	protein-coding gene	gene with protein product	"""5-oxo-ETE acid G-protein-coupled receptor 1"""					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.1177C>T	2.37:g.42990143G>A	ENSP00000367930:p.Arg393Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q86WP7|Q8NGW4	Missense_Mutation	SNP	ENST00000378661.2	37	CCDS1810.1	.	.	.	.	.	.	.	.	.	.	G	7.917	0.737792	0.15574	0.0	2.33E-4	ENSG00000162881	ENST00000378661	T	0.61510	0.1	1.59	-0.094	0.13646	.	2.639090	0.02716	U	0.113495	T	0.46678	0.1405	N	0.08118	0	0.09310	N	1	D	0.71674	0.998	P	0.53185	0.72	T	0.36962	-0.9726	10	0.59425	D	0.04	.	3.4552	0.07512	0.5217:0.0:0.4783:0.0	.	393	Q8TDS5	OXER1_HUMAN	C	393	ENSP00000367930:R393C	ENSP00000367930:R393C	R	-	1	0	OXER1	42843647	0.000000	0.05858	0.014000	0.15608	0.035000	0.12851	-0.284000	0.08422	-0.044000	0.13491	0.655000	0.94253	CGC		0.677	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962	
OXER1	165140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	42990181	42990181	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:42990181A>G	ENST00000378661.2	-	1	1220	c.1139T>C	c.(1138-1140)gTg>gCg	p.V380A		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	380					G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						CTCGTCGCTCACTGGGCCCTG	0.662																																						.											0													40.0	45.0	44.0					2																	42990181		2203	4300	6503	SO:0001583	missense	165140			AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"""GPCR / Class A : Leukotriene receptors"""	24884	protein-coding gene	gene with protein product	"""5-oxo-ETE acid G-protein-coupled receptor 1"""					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.1139T>C	2.37:g.42990181A>G	ENSP00000367930:p.Val380Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q86WP7|Q8NGW4	Missense_Mutation	SNP	ENST00000378661.2	37	CCDS1810.1	.	.	.	.	.	.	.	.	.	.	A	0.200	-1.045308	0.01997	.	.	ENSG00000162881	ENST00000378661	T	0.37752	1.18	3.79	-4.65	0.03339	.	3.447910	0.02281	U	0.069387	T	0.13072	0.0317	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16129	-1.0413	10	0.06236	T	0.91	.	0.7743	0.01029	0.3082:0.1227:0.3231:0.246	.	380	Q8TDS5	OXER1_HUMAN	A	380	ENSP00000367930:V380A	ENSP00000367930:V380A	V	-	2	0	OXER1	42843685	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.262000	0.08682	-0.626000	0.05596	-0.250000	0.11733	GTG		0.662	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962	
GFPT1	2673	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	2	69583647	69583647	+	Missense_Mutation	SNP	C	C	T	rs370171865		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:69583647C>T	ENST00000357308.4	-	7	764	c.586G>A	c.(586-588)Ggg>Agg	p.G196R	GFPT1_ENST00000361060.5_Missense_Mutation_p.G196R	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	196	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						ACTGCTTGCCCGGGAAAATGA	0.358																																						.											0								C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	146.0	146.0	146.0		586	4.5	1.0	2		146	0,8600		0,0,4300	no	missense	GFPT1	NM_002056.3	125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	196/682	69583647	1,13005	2203	4300	6503	SO:0001583	missense	2673				CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"""glutamine-fructose-6-phosphate transaminase 1"""	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.586G>A	2.37:g.69583647C>T	ENSP00000349860:p.Gly196Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q53QE6|Q9BXF8	Missense_Mutation	SNP	ENST00000357308.4	37	CCDS58713.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316483	0.81469	2.27E-4	0.0	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.76448	-1.02;-1.02	5.34	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.86180	0.5871	M	0.74881	2.28	0.80722	D	1	D	0.71674	0.998	D	0.69654	0.965	D	0.87609	0.2502	10	0.72032	D	0.01	-12.7973	12.7181	0.57127	0.0:0.9208:0.0:0.0792	.	196	Q06210-2	.	R	196	ENSP00000349860:G196R;ENSP00000354347:G196R	ENSP00000349860:G196R	G	-	1	0	GFPT1	69437151	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	5.785000	0.68998	1.491000	0.48482	0.655000	0.94253	GGG		0.358	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
DOCK3	1795	hgsc.bcm.edu;mdanderson.org	37	3	51315164	51315164	+	Silent	SNP	G	G	A	rs370843265		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:51315164G>A	ENST00000266037.9	+	26	2825	c.2802G>A	c.(2800-2802)ccG>ccA	p.P934P		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	934					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGCGGTGCCCGCAGTGCACAG	0.552																																						.											0								G		0,4060		0,0,2030	35.0	37.0	36.0		2802	2.5	1.0	3		36	1,8351		0,1,4175	no	coding-synonymous	DOCK3	NM_004947.4		0,1,6205	AA,AG,GG		0.012,0.0,0.0081		934/2031	51315164	1,12411	2030	4176	6206	SO:0001819	synonymous_variant	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2802G>A	3.37:g.51315164G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O15017	Silent	SNP	ENST00000266037.9	37	CCDS46835.1																																																																																				0.552	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947	
PLXNA1	5361	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	126723819	126723819	+	Missense_Mutation	SNP	C	C	T	rs117043507	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:126723819C>T	ENST00000393409.2	+	5	1711	c.1711C>T	c.(1711-1713)Cgc>Tgc	p.R571C	PLXNA1_ENST00000251772.4_Missense_Mutation_p.R548C	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	571					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGTGCAGCCCCGCAATGTGTC	0.657													C|||	2	0.000399361	0.0	0.0	5008	,	,		17680	0.001		0.001	False		,,,				2504	0.0					.											0													47.0	44.0	45.0					3																	126723819		2203	4300	6503	SO:0001583	missense	5361			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.1711C>T	3.37:g.126723819C>T	ENSP00000377061:p.Arg571Cys	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000393409.2	37	CCDS33847.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	6.096	0.386016	0.11524	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.10005	2.92;2.92	3.4	2.43	0.29744	.	0.347098	0.20648	N	0.088262	T	0.09555	0.0235	L	0.44542	1.39	0.20403	N	0.9999	B	0.12013	0.005	B	0.09377	0.004	T	0.18272	-1.0342	10	0.72032	D	0.01	.	8.5712	0.33569	0.4609:0.5391:0.0:0.0	.	571	Q9UIW2	PLXA1_HUMAN	C	571;548	ENSP00000377061:R571C;ENSP00000251772:R548C	ENSP00000251772:R548C	R	+	1	0	PLXNA1	128206509	0.377000	0.25106	0.416000	0.26546	0.046000	0.14306	2.447000	0.44917	1.927000	0.55829	0.313000	0.20887	CGC		0.657	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242	
PPAT	5471	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	4	57267640	57267640	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:57267640G>A	ENST00000264220.2	-	7	879	c.742C>T	c.(742-744)Cgt>Tgt	p.R248C	PPAT_ENST00000507648.1_5'UTR	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	248	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	AAGACTTCACGGTAATATCTT	0.348																																						.											0													402.0	421.0	415.0					4																	57267640		2203	4300	6503	SO:0001583	missense	5471				CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.742C>T	4.37:g.57267640G>A	ENSP00000264220:p.Arg248Cys	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000264220.2	37	CCDS3505.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359676	0.61403	.	.	ENSG00000128059	ENST00000264220	T	0.78707	-1.2	5.35	5.35	0.76521	Glutamine amidotransferase, type II (1);	0.045285	0.85682	D	0.000000	D	0.84875	0.5569	M	0.92367	3.3	0.80722	D	1	B	0.22983	0.078	B	0.25987	0.065	D	0.84585	0.0663	10	0.87932	D	0	-19.2629	19.4212	0.94721	0.0:0.0:1.0:0.0	.	248	Q06203	PUR1_HUMAN	C	248	ENSP00000264220:R248C	ENSP00000264220:R248C	R	-	1	0	PPAT	56962397	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.145000	0.71769	2.675000	0.91044	0.650000	0.86243	CGT		0.348	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703	
PCDHA8	56140	hgsc.bcm.edu;mdanderson.org	37	5	140222343	140222343	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140222343G>A	ENST00000531613.1	+	1	1437	c.1437G>A	c.(1435-1437)gcG>gcA	p.A479A	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.A479A|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	479	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTGTCTGCGCGAGACGCGG	0.657																																						.											0													44.0	49.0	47.0					5																	140222343		2195	4260	6455	SO:0001819	synonymous_variant	56140			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1437G>A	5.37:g.140222343G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	CCDS54919.1																																																																																				0.657	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911	
PCDHA9	9752	hgsc.bcm.edu;mdanderson.org	37	5	140229541	140229541	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140229541C>T	ENST00000532602.1	+	1	2494	c.1461C>T	c.(1459-1461)aaC>aaT	p.N487N	PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.N487N|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	487	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGGAGAACGCCCTGGTGT	0.667																																					Melanoma(55;1800 1972 14909)	.											0													55.0	63.0	60.0					5																	140229541		2194	4269	6463	SO:0001819	synonymous_variant	9752			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1461C>T	5.37:g.140229541C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	CCDS54920.1																																																																																				0.667	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857	
PCDHA11	56138	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	5	140250128	140250128	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140250128C>T	ENST00000398640.2	+	1	1440	c.1440C>T	c.(1438-1440)gaC>gaT	p.D480D	PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	480	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCGCGGGACGCGGACGCGC	0.662																																						.											0													91.0	95.0	94.0					5																	140250128		2203	4300	6503	SO:0001819	synonymous_variant	56138			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1440C>T	5.37:g.140250128C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	CCDS47284.1																																																																																				0.662	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902	
DAB2	1601	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	5	39377146	39377146	+	Silent	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:39377146G>T	ENST00000320816.6	-	12	2210	c.1743C>A	c.(1741-1743)ccC>ccA	p.P581P	DAB2_ENST00000509337.1_Silent_p.P560P|DAB2_ENST00000339788.6_Silent_p.P363P|DAB2_ENST00000545653.1_Silent_p.P560P	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	581					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			ACCAAGCATTGGGTGCCACAG	0.547											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													76.0	86.0	82.0					5																	39377146		2203	4300	6503	SO:0001819	synonymous_variant	1601			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1743C>A	5.37:g.39377146G>T		Somatic	885	WXS	Illumina HiSeq	Phase_I	A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	ENST00000320816.6	37	CCDS34149.1																																																																																				0.547	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343	
SH3RF2	153769	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	5	145428792	145428792	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:145428792G>A	ENST00000511217.1	+	6	1358	c.1306G>A	c.(1306-1308)Gtc>Atc	p.V436I	SH3RF2_ENST00000359120.4_Missense_Mutation_p.V436I			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	436	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAACAATTACGTCATCCCCAT	0.607											OREG0016895	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													70.0	69.0	69.0					5																	145428792		2203	4300	6503	SO:0001583	missense	153769			AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1306G>A	5.37:g.145428792G>A	ENSP00000424497:p.Val436Ile	Somatic	1694	WXS	Illumina HiSeq	Phase_I	A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	ENST00000511217.1	37	CCDS4280.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452171	0.63290	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.51817	0.69;0.69	5.29	5.29	0.74685	Src homology-3 domain (4);	0.192109	0.34802	N	0.003667	T	0.45135	0.1327	M	0.67517	2.055	0.49389	D	0.999788	P	0.43938	0.822	B	0.32342	0.144	T	0.56257	-0.8009	10	0.59425	D	0.04	-18.2123	17.6888	0.88263	0.0:0.0:1.0:0.0	.	436	Q8TEC5	SH3R2_HUMAN	I	436	ENSP00000352028:V436I;ENSP00000424497:V436I	ENSP00000352028:V436I	V	+	1	0	SH3RF2	145408985	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	5.238000	0.65366	2.470000	0.83445	0.484000	0.47621	GTC		0.607	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550	
PKHD1	5314	hgsc.bcm.edu;bcgsc.ca	37	6	51695719	51695719	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:51695719C>A	ENST00000371117.3	-	52	8517	c.8242G>T	c.(8242-8244)Ggc>Tgc	p.G2748C	PKHD1_ENST00000340994.4_Missense_Mutation_p.G2748C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2748	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCTCCCCAGCCTTCTTCAACA	0.428																																						.											0													120.0	108.0	112.0					6																	51695719		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8242G>T	6.37:g.51695719C>A	ENSP00000360158:p.Gly2748Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850298	0.71719	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88431	-2.2;-2.38	5.32	4.45	0.53987	G8 domain (1);	0.000000	0.64402	D	0.000001	D	0.91938	0.7447	M	0.72118	2.19	0.41357	D	0.987406	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92929	0.6362	10	0.72032	D	0.01	.	13.2455	0.60020	0.0:0.9231:0.0:0.0769	.	2748;2748;2748	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	C	2748	ENSP00000360158:G2748C;ENSP00000341097:G2748C	ENSP00000341097:G2748C	G	-	1	0	PKHD1	51803678	1.000000	0.71417	0.853000	0.33588	0.989000	0.77384	5.161000	0.64935	1.220000	0.43490	0.655000	0.94253	GGC		0.428	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
TTK	7272	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	6	80749554	80749554	+	Missense_Mutation	SNP	G	G	A	rs2230512	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:80749554G>A	ENST00000369798.2	+	19	2383	c.2272G>A	c.(2272-2274)Gat>Aat	p.D758N	TTK_ENST00000230510.3_Missense_Mutation_p.D757N|TTK_ENST00000509894.1_Missense_Mutation_p.D757N	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	758	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> N (in dbSNP:rs2230512).		chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.D742N(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TGAATTTCCCGATATTCCAGA	0.269													G|||	11	0.00219649	0.0083	0.0	5008	,	,		12837	0.0		0.0	False		,,,				2504	0.0					.											1	Substitution - Missense(1)	large_intestine(1)						G	ASN/ASP,ASN/ASP	45,4357	46.7+/-81.2	0,45,2156	54.0	54.0	54.0		2269,2272	4.9	1.0	6	dbSNP_98	54	0,8578		0,0,4289	yes	missense,missense	TTK	NM_001166691.1,NM_003318.4	23,23	0,45,6445	AA,AG,GG		0.0,1.0223,0.3467	benign,benign	757/857,758/858	80749554	45,12935	2201	4289	6490	SO:0001583	missense	7272				CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2272G>A	6.37:g.80749554G>A	ENSP00000358813:p.Asp758Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	CCDS4993.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	10.12	1.261975	0.23051	0.010223	0.0	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.74209	-0.82;-0.82;-0.82	5.75	4.89	0.63831	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.132776	0.64402	D	0.000002	T	0.46776	0.1410	L	0.41824	1.3	0.49582	D	0.999806	B;P	0.34615	0.073;0.459	B;B	0.29716	0.023;0.106	T	0.50197	-0.8856	10	0.30078	T	0.28	.	9.9745	0.41774	0.153:0.0:0.847:0.0	rs2230512	758;757	P33981;A8K8U5	TTK_HUMAN;.	N	757;757;758	ENSP00000422936:D757N;ENSP00000230510:D757N;ENSP00000358813:D758N	ENSP00000230510:D757N	D	+	1	0	TTK	80806273	1.000000	0.71417	1.000000	0.80357	0.073000	0.16967	7.681000	0.84073	1.424000	0.47217	0.650000	0.86243	GAT		0.269	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2		
LAMB1	3912	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	7	107605032	107605032	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:107605032A>G	ENST00000222399.6	-	14	1893	c.1663T>C	c.(1663-1665)Tac>Cac	p.Y555H	LAMB1_ENST00000393561.1_Missense_Mutation_p.Y579H|LAMB1_ENST00000393560.1_Missense_Mutation_p.Y555H	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	555	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TCATAGAGGTAGTGATCCAGG	0.542																																						.											0													185.0	160.0	168.0					7																	107605032		2203	4300	6503	SO:0001583	missense	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.1663T>C	7.37:g.107605032A>G	ENSP00000222399:p.Tyr555His	Somatic		WXS	Illumina HiSeq	Phase_I	Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.381108	0.82792	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.39056	1.36;1.36;1.1	4.64	4.64	0.57946	Laminin IV (1);EGF-like, laminin (1);	.	.	.	.	T	0.68192	0.2974	M	0.90483	3.12	0.58432	D	0.999999	D;D;D	0.67145	0.992;0.996;0.996	D;D;D	0.70487	0.93;0.969;0.955	T	0.72743	-0.4201	9	0.35671	T	0.21	.	14.0581	0.64781	1.0:0.0:0.0:0.0	.	555;555;579	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	H	579;555;555	ENSP00000377191:Y579H;ENSP00000222399:Y555H;ENSP00000377190:Y555H	ENSP00000222399:Y555H	Y	-	1	0	LAMB1	107392268	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	5.957000	0.70323	1.730000	0.51580	0.460000	0.39030	TAC		0.542	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291	
ABCB5	340273	hgsc.bcm.edu;mdanderson.org	37	7	20778687	20778687	+	Silent	SNP	G	G	A	rs369991802		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:20778687G>A	ENST00000404938.2	+	24	3601	c.2949G>A	c.(2947-2949)tcG>tcA	p.S983S	ABCB5_ENST00000258738.6_Silent_p.S538S	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	983					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.S538S(1)|p.S983S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AAGCCAAATCGGGGGCTGCGC	0.428																																						.											2	Substitution - coding silent(2)	lung(2)						G	,	0,4406		0,0,2203	54.0	52.0	52.0		2949,1614	-3.3	1.0	7		52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ABCB5	NM_001163941.1,NM_178559.5	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	983/1258,538/813	20778687	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2949G>A	7.37:g.20778687G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	CCDS55090.1																																																																																				0.428	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559	
KLF14	136259	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	7	130417993	130417993	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:130417993G>A	ENST00000310992.4	-	1	895	c.868C>T	c.(868-870)Cgt>Tgt	p.R290C		NM_138693.2	NP_619638.2	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	290					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					GTTCGACGACGTCCCCGGTAC	0.672																																						.											0													51.0	48.0	49.0					7																	130417993		2196	4293	6489	SO:0001583	missense	136259			AF490374	CCDS5825.1	7q32.3	2014-05-06			ENSG00000174595	ENSG00000266265		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	23025	protein-coding gene	gene with protein product		609393				17480121	Standard	NM_138693		Approved	BTEB5	uc003vqk.2	Q8TD94	OTTHUMG00000188298	ENST00000310992.4:c.868C>T	7.37:g.130417993G>A	ENSP00000310878:p.Arg290Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q19A42|Q19A43	Missense_Mutation	SNP	ENST00000310992.4	37	CCDS5825.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079248	0.76528	.	.	ENSG00000174595	ENST00000310992	T	0.09163	3.01	4.41	4.41	0.53225	.	0.000000	0.32055	U	0.006641	T	0.21881	0.0527	L	0.40543	1.245	0.42964	D	0.994416	D	0.89917	1.0	D	0.73708	0.981	T	0.00455	-1.1729	10	0.59425	D	0.04	.	11.2262	0.48886	0.0:0.1866:0.8134:0.0	.	290	Q8TD94	KLF14_HUMAN	C	290	ENSP00000310878:R290C	ENSP00000310878:R290C	R	-	1	0	KLF14	130068533	0.002000	0.14202	1.000000	0.80357	0.933000	0.57130	0.923000	0.28757	2.374000	0.81015	0.561000	0.74099	CGT		0.672	KLF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338013.1	NM_138693	
XPO7	23039	hgsc.bcm.edu	37	8	21827087	21827087	+	Splice_Site	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:21827087C>T	ENST00000252512.9	+	3	359	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	XPO7_ENST00000434536.1_Splice_Site_p.R87W|XPO7_ENST00000433566.4_Splice_Site_p.R88W|XPO7_ENST00000518017.1_3'UTR	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	87	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		AATAGATATTCGTAAGTGGAG	0.398																																						.											0													79.0	75.0	76.0					8																	21827087		1856	4105	5961	SO:0001630	splice_region_variant	23039			AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.259+1C>T	8.37:g.21827087C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	C	34	5.408153	0.96051	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.71341	-0.56;-0.56;-0.56	5.51	5.51	0.81932	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.88336	0.6409	M	0.92833	3.35	0.80722	D	1	D;P;P	0.89917	1.0;0.951;0.903	D;P;P	0.87578	0.998;0.648;0.648	D	0.89589	0.3826	10	0.52906	T	0.07	-16.741	19.3771	0.94514	0.0:1.0:0.0:0.0	.	88;87;87	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	W	87;87;88	ENSP00000404853:R87W;ENSP00000252512:R87W;ENSP00000410249:R88W	ENSP00000252512:R87W	R	+	1	2	XPO7	21883033	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.347000	0.79356	2.753000	0.94483	0.591000	0.81541	CGG		0.398	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024	Missense_Mutation
LOXL2	4017	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	8	23174516	23174516	+	Missense_Mutation	SNP	C	C	T	rs145002005		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:23174516C>T	ENST00000389131.3	-	9	1951	c.1582G>A	c.(1582-1584)Gtg>Atg	p.V528M		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	528	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GGGCAGGCCACGTCCTCCCCG	0.657																																						.											0								C	MET/VAL	0,4406		0,0,2203	65.0	56.0	59.0		1582	5.4	0.5	8	dbSNP_134	59	1,8599	1.2+/-3.3	0,1,4299	no	missense	LOXL2	NM_002318.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	528/775	23174516	1,13005	2203	4300	6503	SO:0001583	missense	4017			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1582G>A	8.37:g.23174516C>T	ENSP00000373783:p.Val528Met	Somatic		WXS	Illumina HiSeq	Phase_I	B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073941	0.76415	0.0	1.16E-4	ENSG00000134013	ENST00000389131	T	0.35605	1.3	5.39	5.39	0.77823	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.170904	0.52532	D	0.000069	T	0.56277	0.1974	M	0.81341	2.54	0.38341	D	0.944073	D;D	0.60575	0.988;0.975	P;P	0.59761	0.78;0.863	T	0.64287	-0.6443	10	0.66056	D	0.02	.	11.5723	0.50841	0.0:0.9175:0.0:0.0825	.	528;528	B2R5Q0;Q9Y4K0	.;LOXL2_HUMAN	M	528	ENSP00000373783:V528M	ENSP00000373783:V528M	V	-	1	0	LOXL2	23230461	0.124000	0.22315	0.487000	0.27428	0.859000	0.49053	0.674000	0.25218	2.678000	0.91216	0.655000	0.94253	GTG		0.657	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1		
IKBKB	3551	broad.mit.edu;hgsc.bcm.edu	37	8	42179650	42179650	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:42179650G>A	ENST00000520810.1	+	18	2003	c.1817G>A	c.(1816-1818)cGa>cAa	p.R606Q	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.R604Q|IKBKB_ENST00000379708.3_Missense_Mutation_p.R383Q|IKBKB_ENST00000416505.2_Missense_Mutation_p.R547Q	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	606					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	AAGAAAGTGCGAGTGATCTAT	0.552																																						.											0													96.0	96.0	96.0					8																	42179650		2203	4300	6503	SO:0001583	missense	3551			AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1817G>A	8.37:g.42179650G>A	ENSP00000430684:p.Arg606Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795081	0.50208	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.61	4.74	0.60224	.	0.258863	0.31404	N	0.007712	T	0.29652	0.0740	L	0.53249	1.67	0.37206	D	0.90459	D;P;D;P	0.76494	0.998;0.723;0.999;0.602	P;B;P;B	0.55011	0.652;0.146;0.766;0.069	T	0.20240	-1.0281	10	0.26408	T	0.33	.	9.0543	0.36397	0.0747:0.0:0.779:0.1464	.	547;604;383;606	B4E0U4;O14920-2;B3KRB7;O14920	.;.;.;IKKB_HUMAN	Q	606;547;604;383	ENSP00000430684:R606Q;ENSP00000404920:R547Q;ENSP00000430868:R604Q;ENSP00000369030:R383Q	ENSP00000369030:R383Q	R	+	2	0	IKBKB	42298807	0.977000	0.34250	0.988000	0.46212	0.987000	0.75469	3.596000	0.54024	1.370000	0.46153	0.655000	0.94253	CGA		0.552	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1		
PCSK5	5125	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	9	78641898	78641898	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:78641898G>A	ENST00000545128.1	+	5	1115	c.577G>A	c.(577-579)Gtg>Atg	p.V193M	PCSK5_ENST00000376767.3_Missense_Mutation_p.V193M|PCSK5_ENST00000376752.4_Missense_Mutation_p.V193M	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	193	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AAGTTGCGACGTGAATGGGAA	0.512																																						.											0													147.0	115.0	126.0					9																	78641898		2203	4300	6503	SO:0001583	missense	5125				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.577G>A	9.37:g.78641898G>A	ENSP00000446280:p.Val193Met	Somatic		WXS	Illumina HiSeq	Phase_I	F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757070	0.89843	.	.	ENSG00000099139	ENST00000545128;ENST00000376767;ENST00000396108;ENST00000376752	D;D;D	0.88046	-2.33;-2.33;-2.33	5.28	5.28	0.74379	.	.	.	.	.	D	0.87103	0.6094	L	0.45470	1.425	0.58432	D	0.999999	P;D	0.55800	0.946;0.973	P;P	0.46585	0.466;0.521	D	0.88798	0.3283	9	0.87932	D	0	.	19.2859	0.94069	0.0:0.0:1.0:0.0	.	193;193	Q92824-2;B1AMG5	.;.	M	193	ENSP00000446280:V193M;ENSP00000365958:V193M;ENSP00000365943:V193M	ENSP00000365943:V193M	V	+	1	0	PCSK5	77831718	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.569000	0.82380	2.624000	0.88883	0.655000	0.94253	GTG		0.512	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
FAM120A	23196	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	9	96326776	96326776	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:96326776G>A	ENST00000277165.6	+	18	3505	c.3311G>A	c.(3310-3312)cGc>cAc	p.R1104H	AL353629.1_ENST00000582353.1_RNA|FAM120A_ENST00000340893.4_Missense_Mutation_p.R1058H|FAM120A_ENST00000333936.5_Missense_Mutation_p.R1132H	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	1104	RNA binding.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGCGCTTGCCGCAGAGAAGCT	0.433																																						.											0													62.0	67.0	65.0					9																	96326776		2203	4299	6502	SO:0001583	missense	23196			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.3311G>A	9.37:g.96326776G>A	ENSP00000277165:p.Arg1104His	Somatic		WXS	Illumina HiSeq	Phase_I	A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	G	0.412	-0.912889	0.02415	.	.	ENSG00000048828	ENST00000277165;ENST00000333936;ENST00000340893;ENST00000427765	T;T;T;T	0.42131	1.57;1.57;1.57;0.98	5.54	1.27	0.21489	.	0.455677	0.22483	N	0.059479	T	0.15696	0.0378	N	0.02916	-0.46	0.30686	N	0.751839	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.14811	-1.0459	10	0.23302	T	0.38	-3.7237	6.753	0.23497	0.647:0.0:0.353:0.0	.	1058;1132;1104	Q9NZB2-4;Q9NZB2-6;Q9NZB2	.;.;F120A_HUMAN	H	1104;1132;1058;480	ENSP00000277165:R1104H;ENSP00000334918:R1132H;ENSP00000344698:R1058H;ENSP00000412440:R480H	ENSP00000277165:R1104H	R	+	2	0	FAM120A	95366597	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	3.318000	0.51975	0.312000	0.23038	-0.150000	0.13652	CGC		0.433	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612	
UAP1L1	91373	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	9	139973538	139973538	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:139973538C>T	ENST00000409858.3	+	4	813	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	UAP1L1_ENST00000476184.1_3'UTR|UAP1L1_ENST00000360271.3_Missense_Mutation_p.R138W	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	261							uridylyltransferase activity (GO:0070569)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CATCCTGGTGCGGCTGGCGGA	0.657																																						.											0													81.0	79.0	80.0					9																	139973538		2203	4300	6503	SO:0001583	missense	91373			AK022632	CCDS7028.2	9q34.3	2014-07-31	2014-07-31		ENSG00000197355	ENSG00000197355			28082	protein-coding gene	gene with protein product							Standard	NM_207309		Approved		uc010ncb.3	Q3KQV9	OTTHUMG00000020962	ENST00000409858.3:c.781C>T	9.37:g.139973538C>T	ENSP00000386935:p.Arg261Trp	Somatic		WXS	Illumina HiSeq	Phase_I	A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Missense_Mutation	SNP	ENST00000409858.3	37	CCDS7028.2	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746443	0.69418	.	.	ENSG00000197355	ENST00000409858;ENST00000360271	T;T	0.17854	2.25;2.25	5.27	4.29	0.51040	.	0.107189	0.64402	D	0.000008	T	0.42291	0.1196	M	0.86178	2.8	0.36084	D	0.842964	D;D	0.76494	0.999;0.999	D;P	0.70016	0.967;0.893	T	0.56667	-0.7941	10	0.87932	D	0	.	10.321	0.43767	0.3919:0.6081:0.0:0.0	.	261;138	Q3KQV9;Q3KQV9-2	UAP1L_HUMAN;.	W	261;138	ENSP00000386935:R261W;ENSP00000353409:R138W	ENSP00000353409:R138W	R	+	1	2	UAP1L1	139093359	1.000000	0.71417	0.991000	0.47740	0.399000	0.30720	4.453000	0.60061	2.470000	0.83445	0.561000	0.74099	CGG		0.657	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055216.2	XM_038063	
FAM199X	139231	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	103431192	103431192	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:103431192C>T	ENST00000493442.1	+	4	785	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	FAM199X_ENST00000299906.5_3'UTR	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	207										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GATGGGTCTTCGGGAGCAACT	0.358																																						.											0													132.0	122.0	126.0					X																	103431192		2203	4300	6503	SO:0001583	missense	139231			BC016683	CCDS35364.1	Xq22	2010-02-11	2010-02-11	2010-02-11	ENSG00000123575	ENSG00000123575			25195	protein-coding gene	gene with protein product			"""chromosome X open reading frame 39"""	CXorf39			Standard	NM_207318		Approved		uc004elw.3	Q6PEV8	OTTHUMG00000022126	ENST00000493442.1:c.619C>T	X.37:g.103431192C>T	ENSP00000417581:p.Arg207Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q8WVP6|Q96AV3	Missense_Mutation	SNP	ENST00000493442.1	37	CCDS35364.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043222	0.75732	.	.	ENSG00000123575	ENST00000493442	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.76198	0.3954	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.988	T	0.76509	-0.2933	8	.	.	.	-8.1108	16.3372	0.83068	0.0:1.0:0.0:0.0	.	207;207	Q6PEV8-2;Q6PEV8	.;F199X_HUMAN	W	207	.	.	R	+	1	2	FAM199X	103317848	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.818000	0.62657	2.141000	0.66446	0.600000	0.82982	CGG		0.358	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057764.1	NM_207318	
LRCH2	57631	hgsc.bcm.edu	37	X	114357360	114357360	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:114357360C>T	ENST00000317135.8	-	19	2093	c.2063G>A	c.(2062-2064)cGt>cAt	p.R688H	LRCH2_ENST00000538422.1_Missense_Mutation_p.R671H	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	688	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						AGCAACAGAACGTGGCCTTAT	0.368																																						.											0													108.0	97.0	101.0					X																	114357360		1959	4150	6109	SO:0001583	missense	57631			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.2063G>A	X.37:g.114357360C>T	ENSP00000325091:p.Arg688His	Somatic		WXS	Illumina HiSeq	Phase_I	F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP	ENST00000317135.8	37	CCDS48155.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463448	0.84425	.	.	ENSG00000130224	ENST00000317135;ENST00000536655;ENST00000538422	D;D	0.95069	-3.6;-3.6	5.39	5.39	0.77823	Calponin homology domain (5);	0.117372	0.64402	D	0.000015	D	0.97294	0.9115	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	1.0;0.971	D;P	0.87578	0.998;0.8	D	0.97619	1.0134	10	0.59425	D	0.04	-7.9127	16.6315	0.85035	0.0:1.0:0.0:0.0	.	688;671	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	H	688;167;671	ENSP00000325091:R688H;ENSP00000439366:R671H	ENSP00000325091:R688H	R	-	2	0	LRCH2	114263616	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.320000	0.79064	2.499000	0.84300	0.422000	0.28245	CGT		0.368	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	NM_020871	
KLHL34	257240	hgsc.bcm.edu	37	X	21675168	21675168	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:21675168G>A	ENST00000379499.2	-	1	1280	c.739C>T	c.(739-741)Cgg>Tgg	p.R247W		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	247						extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CCCTTGACCCGGGCGGGCAGC	0.682																																						.											0													18.0	19.0	18.0					X																	21675168		2198	4293	6491	SO:0001583	missense	257240			AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.739C>T	X.37:g.21675168G>A	ENSP00000368813:p.Arg247Trp	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000379499.2	37	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.476305	0.26511	.	.	ENSG00000185915	ENST00000379499	T	0.73258	-0.73	4.65	3.76	0.43208	.	0.431057	0.22852	N	0.054854	T	0.59932	0.2230	N	0.22421	0.69	0.09310	N	1	D	0.76494	0.999	P	0.52672	0.706	T	0.55673	-0.8104	10	0.72032	D	0.01	.	1.0565	0.01591	0.1687:0.1555:0.3336:0.3422	.	247	Q8N239	KLH34_HUMAN	W	247	ENSP00000368813:R247W	ENSP00000368813:R247W	R	-	1	2	KLHL34	21585089	0.000000	0.05858	0.118000	0.21660	0.405000	0.30901	0.188000	0.17018	0.909000	0.36697	0.422000	0.28245	CGG		0.682	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270	
GJB1	2705	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	70443744	70443744	+	Missense_Mutation	SNP	G	G	A	rs116840818		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:70443744G>A	ENST00000374022.3	+	2	282	c.187G>A	c.(187-189)Gtt>Att	p.V63I	GJB1_ENST00000361726.6_Missense_Mutation_p.V63I|GJB1_ENST00000374029.1_Missense_Mutation_p.V63I	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	63			V -> I (in CMTX1; can be associated with Gln-22). {ECO:0000269|PubMed:12477701, ECO:0000269|PubMed:8162049, ECO:0000269|PubMed:9099841, ECO:0000269|PubMed:9361298, ECO:0000269|PubMed:9633821}.		cell death (GO:0008219)|cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)|purine ribonucleotide transport (GO:0015868)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					CTGCAACAGCGTTTGCTATGA	0.557																																						.											0			GRCh37	CM940832	GJB1	M	rs116840818						107.0	74.0	85.0					X																	70443744		2203	4300	6503	SO:0001583	missense	2705			X04325	CCDS14408.1	Xq13.1	2014-09-17	2007-01-16		ENSG00000169562	ENSG00000169562		"""Ion channels / Gap junction proteins (connexins)"""	4283	protein-coding gene	gene with protein product	"""Charcot-Marie-Tooth neuropathy, X-linked"", ""connexin 32"""	304040	"""gap junction protein, beta 1, 32kD (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)"", ""gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)"", ""gap junction protein, beta 1, 32kDa (connexin 32)"""	CMTX1, CMTX		1319395	Standard	NM_000166		Approved	CX32	uc004dzf.3	P08034	OTTHUMG00000021797	ENST00000374022.3:c.187G>A	X.37:g.70443744G>A	ENSP00000363134:p.Val63Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B2R8R2|D3DVV2|Q5U0S4	Missense_Mutation	SNP	ENST00000374022.3	37	CCDS14408.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.529886	0.27387	.	.	ENSG00000169562	ENST00000374029;ENST00000374022;ENST00000447581;ENST00000361726	D;D;D;D	0.99405	-5.84;-5.84;-5.84;-5.84	4.56	3.68	0.42216	Connexin, conserved site (1);Connexin, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99450	0.9805	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98789	1.0735	10	0.87932	D	0	.	13.3254	0.60457	0.0:0.0:0.841:0.159	.	63	P08034	CXB1_HUMAN	I	63	ENSP00000363141:V63I;ENSP00000363134:V63I;ENSP00000407223:V63I;ENSP00000354900:V63I	ENSP00000354900:V63I	V	+	1	0	GJB1	70360469	1.000000	0.71417	0.040000	0.18447	0.004000	0.04260	9.654000	0.98509	0.925000	0.37094	-0.369000	0.07265	GTT		0.557	GJB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057133.1	NM_000166	
ZNF280C	55609	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	129363022	129363022	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:129363022T>C	ENST00000370978.4	-	10	1229	c.1076A>G	c.(1075-1077)tAc>tGc	p.Y359C		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	359					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						ATATTGCCGGTAACAGTGCTG	0.438																																						.											0													382.0	281.0	315.0					X																	129363022		2203	4300	6503	SO:0001583	missense	55609			AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.1076A>G	X.37:g.129363022T>C	ENSP00000360017:p.Tyr359Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2V8|Q9NXR3	Missense_Mutation	SNP	ENST00000370978.4	37	CCDS14622.1	.	.	.	.	.	.	.	.	.	.	t	16.18	3.051089	0.55218	.	.	ENSG00000056277	ENST00000066465;ENST00000370978;ENST00000447817	T;T	0.05855	4.24;3.38	4.12	4.12	0.48240	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.17238	0.0414	L	0.50333	1.59	0.33810	D	0.627693	D;D	0.89917	1.0;1.0	D;D	0.79108	0.982;0.992	T	0.10706	-1.0618	9	0.48119	T	0.1	.	10.3849	0.44134	0.0:0.0:0.0:1.0	.	359;359	Q9UJJ2;Q8ND82	.;Z280C_HUMAN	C	359	ENSP00000360017:Y359C;ENSP00000408521:Y359C	ENSP00000066465:Y359C	Y	-	2	0	ZNF280C	129190703	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	2.917000	0.48821	1.647000	0.50633	0.422000	0.28245	TAC		0.438	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666	
HES4	57801	broad.mit.edu;mdanderson.org	37	1	934923	934923	+	Missense_Mutation	SNP	C	C	T	rs372013830		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:934923C>T	ENST00000304952.6	-	3	412	c.275G>A	c.(274-276)cGt>cAt	p.R92H	HES4_ENST00000484667.2_Missense_Mutation_p.R60H|RP11-54O7.17_ENST00000606034.1_lincRNA|HES4_ENST00000428771.2_Missense_Mutation_p.R118H			Q9HCC6	HES4_HUMAN	hes family bHLH transcription factor 4	92					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)			lung(2)	2	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGCACGCGACGCAGGCTCCG	0.736																																						.											0								C	HIS/ARG,HIS/ARG	1,4227		0,1,2113	9.0	11.0	11.0		353,275	-1.2	0.1	1		11	0,8430		0,0,4215	no	missense,missense	HES4	NM_001142467.1,NM_021170.3	29,29	0,1,6328	TT,TC,CC		0.0,0.0237,0.0079	probably-damaging,probably-damaging	118/248,92/222	934923	1,12657	2114	4215	6329	SO:0001583	missense	57801			BC012351	CCDS5.1, CCDS44034.1	1p36	2013-10-17	2013-10-17		ENSG00000188290	ENSG00000188290		"""Basic helix-loop-helix proteins"""	24149	protein-coding gene	gene with protein product		608060	"""hairy and enhancer of split 4 (Drosophila)"""			11260262, 15254753	Standard	NM_021170		Approved	bHLHb42	uc001aci.2	Q9HCC6	OTTHUMG00000040758	ENST00000304952.6:c.275G>A	1.37:g.934923C>T	ENSP00000304595:p.Arg92His	Somatic		WXS	Illumina HiSeq	Phase_I	Q5SVA5	Missense_Mutation	SNP	ENST00000304952.6	37	CCDS5.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811275	0.50527	2.37E-4	0.0	ENSG00000188290	ENST00000428771;ENST00000304952;ENST00000484667	D;D;T	0.97642	-4.47;-4.47;1.49	3.29	-1.18	0.09617	Helix-loop-helix DNA-binding (4);	0.530450	0.14196	U	0.335030	D	0.92047	0.7480	N	0.25485	0.75	0.33046	D	0.532084	B;P	0.34837	0.226;0.472	B;B	0.34824	0.058;0.19	D	0.88177	0.2868	10	0.48119	T	0.1	.	8.16	0.31194	0.0:0.2009:0.0:0.7991	.	118;92	E9PB28;Q9HCC6	.;HES4_HUMAN	H	118;92;60	ENSP00000393198:R118H;ENSP00000304595:R92H;ENSP00000425085:R60H	ENSP00000304595:R92H	R	-	2	0	HES4	924786	1.000000	0.71417	0.051000	0.19133	0.875000	0.50365	1.671000	0.37513	-0.096000	0.12329	0.407000	0.27541	CGT		0.736	HES4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097944.1	NM_021170	
AGRN	375790	broad.mit.edu	37	1	978746	978746	+	Silent	SNP	C	C	T	rs527601442		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:978746C>T	ENST00000379370.2	+	8	1562	c.1512C>T	c.(1510-1512)agC>agT	p.S504S		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	504	Kazal-like 5. {ECO:0000255|PROSITE- ProRule:PRU00798}.				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)		TGTGCGGCAGCGACGGCGTCA	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		14876	0.0		0.0	False		,,,				2504	0.001					.											0													62.0	51.0	54.0					1																	978746		2198	4296	6494	SO:0001819	synonymous_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.1512C>T	1.37:g.978746C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	ENST00000379370.2	37	CCDS30551.1																																																																																				0.662	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576	
WRAP73	49856	broad.mit.edu	37	1	3547644	3547644	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:3547644G>A	ENST00000270708.7	-	12	1351	c.1278C>T	c.(1276-1278)agC>agT	p.S426S	WRAP73_ENST00000378322.3_3'UTR	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	426						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						TCGAGTCTCCGCTTAAATGCC	0.602																																						.											0													65.0	63.0	64.0					1																	3547644		2203	4300	6503	SO:0001819	synonymous_variant	49856			AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"""WD repeat domain containing"""	12759	protein-coding gene	gene with protein product		606040	"""WD repeat domain 8"""	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.1278C>T	1.37:g.3547644G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Silent	SNP	ENST00000270708.7	37	CCDS48.1																																																																																				0.602	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1		
TP73	7161	broad.mit.edu;mdanderson.org;bcgsc.ca	37	1	3599709	3599709	+	Missense_Mutation	SNP	G	G	A	rs146218192		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:3599709G>A	ENST00000378295.4	+	3	306	c.151G>A	c.(151-153)Gtc>Atc	p.V51I	TP73_ENST00000354437.4_Missense_Mutation_p.V51I|TP73_ENST00000604074.1_Missense_Mutation_p.V51I|TP73_ENST00000604479.1_Missense_Mutation_p.V51I|TP73_ENST00000357733.3_Missense_Mutation_p.V51I|TP73_ENST00000603362.1_Missense_Mutation_p.V51I|TP73_ENST00000346387.4_Missense_Mutation_p.V51I	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	51	Asp/Glu-rich (acidic).				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CAGCATGGACGTCTTCCACCT	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		19210	0.0		0.001	False		,,,				2504	0.0					.											0								G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	119.0	114.0	115.0		151,151,151,151,151,151	4.6	1.0	1	dbSNP_134	115	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	TP73	NM_001204184.1,NM_001204185.1,NM_001204186.1,NM_001204187.1,NM_001204188.1,NM_005427.3	29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	51/500,51/476,51/404,51/556,51/541,51/637	3599709	1,13005	2203	4300	6503	SO:0001583	missense	7161			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.151G>A	1.37:g.3599709G>A	ENSP00000367545:p.Val51Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	ENST00000378295.4	37	CCDS49.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875023	0.33162	2.27E-4	0.0	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387	D;D;D;D	0.99422	-5.76;-5.88;-5.62;-5.72	4.6	4.6	0.57074	.	0.000000	0.64402	U	0.000002	D	0.99171	0.9713	L	0.48642	1.525	0.80722	D	1	D;D	0.76494	0.993;0.999	P;D	0.72982	0.848;0.979	D	0.99379	1.0922	10	0.36615	T	0.2	-38.0352	16.7783	0.85557	0.0:0.0:1.0:0.0	.	51;51	O15350-2;O15350	.;P73_HUMAN	I	51	ENSP00000367545:V51I;ENSP00000346423:V51I;ENSP00000350366:V51I;ENSP00000340740:V51I	ENSP00000340740:V51I	V	+	1	0	TP73	3589569	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	4.352000	0.59404	2.250000	0.74265	0.563000	0.77884	GTC		0.597	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4	NM_005427	
SLC45A1	50651	broad.mit.edu	37	1	8385423	8385423	+	Missense_Mutation	SNP	C	C	T	rs200531790	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:8385423C>T	ENST00000471889.1	+	3	848	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	SLC45A1_ENST00000377479.2_Missense_Mutation_p.R189C|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000289877.8_Missense_Mutation_p.R155C			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	155					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAAGGAGACGCCCTTTCAT	0.483													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16918	0.0		0.0	False		,,,				2504	0.0					.											0													182.0	160.0	167.0					1																	8385423		2203	4300	6503	SO:0001583	missense	50651			AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.463C>T	1.37:g.8385423C>T	ENSP00000418096:p.Arg155Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	CCDS30577.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	19.52	3.842456	0.71488	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	D;D;D	0.96041	-3.89;-3.89;-3.89	5.55	4.58	0.56647	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.97851	0.9294	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98003	1.0361	10	0.87932	D	0	-37.0141	11.4331	0.50052	0.3221:0.6779:0.0:0.0	.	155	Q9Y2W3	S45A1_HUMAN	C	155;189;155	ENSP00000418096:R155C;ENSP00000366699:R189C;ENSP00000289877:R155C	ENSP00000289877:R155C	R	+	1	0	SLC45A1	8308010	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.393000	0.34497	2.594000	0.87642	0.650000	0.86243	CGC		0.483	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5		
UBE4B	10277	broad.mit.edu;bcgsc.ca	37	1	10155570	10155570	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:10155570C>T	ENST00000253251.8	+	3	1102	c.263C>T	c.(262-264)tCg>tTg	p.S88L	UBE4B_ENST00000377157.3_5'UTR|UBE4B_ENST00000343090.6_Missense_Mutation_p.S88L					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CTCAGCAGCTCGCCCTCTAAT	0.468																																						.											0													154.0	124.0	134.0					1																	10155570		2203	4300	6503	SO:0001583	missense	10277			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.263C>T	1.37:g.10155570C>T	ENSP00000253251:p.Ser88Leu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000253251.8	37	CCDS110.1	.	.	.	.	.	.	.	.	.	.	C	36	5.797910	0.96952	.	.	ENSG00000130939	ENST00000253251;ENST00000343090	T;T	0.57595	0.56;0.39	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.66277	0.2773	L	0.43923	1.385	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.70227	0.968;0.947	T	0.63152	-0.6701	10	0.39692	T	0.17	-13.1798	19.3992	0.94621	0.0:1.0:0.0:0.0	.	88;88	O95155;O95155-2	UBE4B_HUMAN;.	L	88	ENSP00000253251:S88L;ENSP00000343001:S88L	ENSP00000253251:S88L	S	+	2	0	UBE4B	10078157	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.659000	0.90383	0.650000	0.86243	TCG		0.468	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048	
PRDM2	7799	broad.mit.edu;mdanderson.org	37	1	14107224	14107224	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:14107224G>A	ENST00000235372.7	+	8	3790	c.2934G>A	c.(2932-2934)ccG>ccA	p.P978P	PRDM2_ENST00000311066.5_Silent_p.P978P|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Silent_p.P777P|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Silent_p.P777P	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	978	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CCTGTCCCCCGGTATTAACTG	0.612																																						.											0													126.0	120.0	122.0					1																	14107224		2203	4300	6503	SO:0001819	synonymous_variant	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.2934G>A	1.37:g.14107224G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	CCDS150.1																																																																																				0.612	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231	
PLEKHM2	23207	broad.mit.edu;ucsc.edu;mdanderson.org	37	1	16053893	16053893	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:16053893C>T	ENST00000375799.3	+	9	1553	c.1326C>T	c.(1324-1326)ccC>ccT	p.P442P	PLEKHM2_ENST00000375793.2_Silent_p.P422P|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	442					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CCGGCTCTCCCGGGGATGCCC	0.627																																						.											0													7.0	8.0	8.0					1																	16053893		1811	4039	5850	SO:0001819	synonymous_variant	23207			AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.1326C>T	1.37:g.16053893C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Silent	SNP	ENST00000375799.3	37	CCDS44063.1																																																																																				0.627	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164	
CROCCP3	114819	broad.mit.edu	37	1	16817159	16817159	+	RNA	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:16817159C>T	ENST00000263511.4	-	0	1108					NR_023386.1		Q8IVE0	CROL2_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 3						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CAGCTCCTTGCGGCTGCGTGT	0.647																																						.											0																																												114819			AB067509		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000080947	ENSG00000080947			29405	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 2"""	CROCCL2		11572484	Standard	NR_023386		Approved	KIAA1922	uc001ayt.2	Q8IVE0	OTTHUMG00000037885		1.37:g.16817159C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q96PW6	RNA	SNP	ENST00000263511.4	37																																																																																					0.647	CROCCP3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000458172.1	XM_057040	
HTR6	3362	broad.mit.edu;ucsc.edu;mdanderson.org	37	1	20005813	20005813	+	Silent	SNP	C	C	T	rs201218739		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:20005813C>T	ENST00000289753.1	+	3	1742	c.1275C>T	c.(1273-1275)ccC>ccT	p.P425P	TMCO4_ENST00000489814.1_5'Flank	NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	425					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	ACATCGACCCCGCGGAGCCCG	0.692																																					Esophageal Squamous(168;1879 2619 6848 21062)	.											0													9.0	10.0	9.0					1																	20005813		1870	3762	5632	SO:0001819	synonymous_variant	3362			L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.1275C>T	1.37:g.20005813C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q13640|Q5TGZ1	Silent	SNP	ENST00000289753.1	37	CCDS197.1																																																																																				0.692	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871	
SEPN1	57190	broad.mit.edu;bcgsc.ca	37	1	26140634	26140634	+	Missense_Mutation	SNP	G	G	A	rs138259627		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:26140634G>A	ENST00000527604.1	+	2	88	c.88G>A	c.(88-90)Gtg>Atg	p.V30M	SEPN1_ENST00000494537.1_3'UTR|SEPN1_ENST00000354177.4_Missense_Mutation_p.V489M|SEPN1_ENST00000374315.1_Missense_Mutation_p.V489M|SEPN1_ENST00000361547.2_Missense_Mutation_p.V523M|RP1-317E23.3_ENST00000442055.1_RNA																							CAGCTTCCCCGTGGAGATGAT	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		18421	0.001		0.0	False		,,,				2504	0.0					.											0													75.0	93.0	87.0					1																	26140634		2114	4213	6327	SO:0001583	missense	57190																														ENST00000527604.1:c.88G>A	1.37:g.26140634G>A	ENSP00000457066:p.Val30Met	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000527604.1	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	28.7	4.941056	0.92526	.	.	ENSG00000162430	ENST00000361547;ENST00000354177;ENST00000374315	D;D;D	0.92699	-3.09;-3.07;-3.06	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.95611	0.8573	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.95888	0.8904	10	0.87932	D	0	-32.1731	18.5754	0.91153	0.0:0.0:1.0:0.0	.	489;523	Q9NZV5-2;Q9NZV5	.;SELN_HUMAN	M	523;489;489	ENSP00000355141:V523M;ENSP00000346109:V489M;ENSP00000363434:V489M	ENSP00000432311:V30M	V	+	1	0	SEPN1	26013221	1.000000	0.71417	0.992000	0.48379	0.950000	0.60333	9.657000	0.98554	2.630000	0.89119	0.561000	0.74099	GTG		0.647	RP1-317E23.6-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000393345.1		
BAI2	576	broad.mit.edu	37	1	32222290	32222290	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:32222290C>T	ENST00000373658.3	-	4	489	c.148G>A	c.(148-150)Ggg>Agg	p.G50R	BAI2_ENST00000257070.4_Missense_Mutation_p.G50R|BAI2_ENST00000398556.3_Missense_Mutation_p.G53R|BAI2_ENST00000398542.1_Missense_Mutation_p.G38R|BAI2_ENST00000373655.2_Missense_Mutation_p.G50R|MIR4254_ENST00000581063.1_RNA|BAI2_ENST00000398547.1_Missense_Mutation_p.G38R|BAI2_ENST00000527361.1_Missense_Mutation_p.G50R|BAI2_ENST00000398538.1_Missense_Mutation_p.G38R	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	50					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GAGAAGGCCCCGTAGAGCACA	0.652																																						.											0													43.0	44.0	43.0					1																	32222290		2201	4298	6499	SO:0001583	missense	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.148G>A	1.37:g.32222290C>T	ENSP00000362762:p.Gly50Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873768	0.91664	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T	0.80033	-0.9;-0.65;-1.32;-1.33;-0.43;-1.32;-1.32;-1.19;-0.93;-0.79	5.22	5.22	0.72569	.	0.000000	0.43747	D	0.000525	D	0.88243	0.6384	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;1.0;0.996;0.958;0.999;0.994	D	0.89093	0.3484	10	0.87932	D	0	.	17.9359	0.89012	0.0:1.0:0.0:0.0	.	38;50;38;38;50;50	A2A3C3;O60241-4;O60241-3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	R	53;38;50;50;38;50;50;38;43;84	ENSP00000381564:G53R;ENSP00000381555:G38R;ENSP00000362762:G50R;ENSP00000362759:G50R;ENSP00000381550:G38R;ENSP00000257070:G50R;ENSP00000435397:G50R;ENSP00000381548:G38R;ENSP00000410921:G43R;ENSP00000437219:G84R	ENSP00000257070:G50R	G	-	1	0	BAI2	31994877	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.453000	0.80700	2.608000	0.88229	0.462000	0.41574	GGG		0.652	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703	
AGO3	192669	broad.mit.edu;bcgsc.ca	37	1	36479606	36479606	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:36479606G>A	ENST00000373191.4	+	11	1712	c.1363G>A	c.(1363-1365)Gct>Act	p.A455T	RP4-665N4.8_ENST00000479395.2_RNA|RP4-665N4.8_ENST00000466576.2_RNA|AGO3_ENST00000246314.6_Missense_Mutation_p.A221T	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	455					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										GTGGGCTATCGCTTGTTTTGC	0.433																																						.											0													161.0	152.0	155.0					1																	36479606		2203	4300	6503	SO:0001583	missense	192669			AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.1363G>A	1.37:g.36479606G>A	ENSP00000362287:p.Ala455Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	CCDS399.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602398	0.87157	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.05786	3.39;3.39	5.65	5.65	0.86999	.	0.048504	0.85682	D	0.000000	T	0.20007	0.0481	M	0.91354	3.2	0.80722	D	1	B	0.26258	0.145	B	0.29440	0.102	T	0.04708	-1.0932	10	0.87932	D	0	-17.7659	19.7916	0.96461	0.0:0.0:1.0:0.0	.	455	Q9H9G7	AGO3_HUMAN	T	455;221	ENSP00000362287:A455T;ENSP00000246314:A221T	ENSP00000246314:A221T	A	+	1	0	EIF2C3	36252193	1.000000	0.71417	0.987000	0.45799	0.859000	0.49053	9.858000	0.99539	2.685000	0.91497	0.650000	0.86243	GCT		0.433	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852	
SZT2	23334	broad.mit.edu	37	1	43896377	43896377	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:43896377C>T	ENST00000562955.1	+	31	4520	c.4520C>T	c.(4519-4521)cCg>cTg	p.P1507L	SZT2_ENST00000372442.1_Missense_Mutation_p.P665L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1564					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GACCTGCCACCGCTCTTCCTG	0.597																																						.											0													133.0	138.0	137.0					1																	43896377		2203	4300	6503	SO:0001583	missense	23334			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4520C>T	1.37:g.43896377C>T	ENSP00000457168:p.Pro1507Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227283	0.79576	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.77579	0.4151	L	0.54323	1.7	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.78086	-0.2341	9	0.87932	D	0	.	20.04	0.97581	0.0:1.0:0.0:0.0	.	1507	Q5T011-5	.	L	665	.	ENSP00000361519:P665L	P	+	2	0	SZT2	43668964	1.000000	0.71417	0.904000	0.35570	0.859000	0.49053	7.314000	0.78988	2.733000	0.93635	0.655000	0.94253	CCG		0.597	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	
BEND5	79656	broad.mit.edu	37	1	49208391	49208391	+	Silent	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:49208391C>A	ENST00000371833.3	-	4	884	c.798G>T	c.(796-798)ccG>ccT	p.P266P	AGBL4_ENST00000371838.1_Intron|BEND5_ENST00000476096.1_Intron|AGBL4_ENST00000371839.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	266						Golgi apparatus (GO:0005794)				large_intestine(5)|lung(2)|skin(1)	8						TCCGTAACTCCGGCTCGGGCT	0.468																																						.											0													104.0	98.0	100.0					1																	49208391		2203	4300	6503	SO:0001819	synonymous_variant	79656			BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"""BEN domain containing"""	25668	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 165"""	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.798G>T	1.37:g.49208391C>A		Somatic		WXS	Illumina HiSeq	Phase_I	D3DQ27|Q96A62|Q9HAI3	Silent	SNP	ENST00000371833.3	37	CCDS552.2																																																																																				0.468	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022323.1	NM_024603	
KANK4	163782	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	62739646	62739646	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:62739646A>T	ENST00000371153.4	-	3	1508	c.1130T>A	c.(1129-1131)aTc>aAc	p.I377N	KANK4_ENST00000371150.1_5'Flank|KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	377						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CCTAGCTTTGATTTCCTCTTC	0.542																																						.											0													119.0	108.0	112.0					1																	62739646		2203	4300	6503	SO:0001583	missense	163782			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1130T>A	1.37:g.62739646A>T	ENSP00000360195:p.Ile377Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	CCDS620.1	.	.	.	.	.	.	.	.	.	.	A	3.082	-0.188865	0.06299	.	.	ENSG00000132854	ENST00000371153	T	0.44881	0.91	5.36	0.288	0.15719	.	1.022470	0.07836	N	0.962235	T	0.30916	0.0780	L	0.40543	1.245	0.09310	N	1	B	0.34181	0.44	B	0.31191	0.125	T	0.25813	-1.0121	10	0.87932	D	0	-1.2477	5.3376	0.15967	0.6232:0.1378:0.239:0.0	.	377	Q5T7N3	KANK4_HUMAN	N	377	ENSP00000360195:I377N	ENSP00000360195:I377N	I	-	2	0	KANK4	62512234	0.000000	0.05858	0.036000	0.18154	0.004000	0.04260	0.556000	0.23438	-0.194000	0.10399	-0.415000	0.06103	ATC		0.542	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712	
CACHD1	57685	broad.mit.edu;mdanderson.org;bcgsc.ca	37	1	65146953	65146953	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:65146953G>A	ENST00000371073.2	+	25	3419	c.3419G>A	c.(3418-3420)cGt>cAt	p.R1140H	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.R1089H			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1140					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ATGTCAGTGCGTATGTCCAAC	0.443																																						.											0													177.0	167.0	170.0					1																	65146953		2203	4300	6503	SO:0001583	missense	57685			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3419G>A	1.37:g.65146953G>A	ENSP00000360113:p.Arg1140His	Somatic		WXS	Illumina HiSeq	Phase_I	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37		.	.	.	.	.	.	.	.	.	.	G	28.2	4.895773	0.91962	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.28454	1.61;1.63	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.42517	0.1206	L	0.43923	1.385	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.22243	-1.0222	10	0.56958	D	0.05	-17.9156	19.7173	0.96127	0.0:0.0:1.0:0.0	.	1140	Q5VU97	CAHD1_HUMAN	H	1140;1089	ENSP00000360113:R1140H;ENSP00000290039:R1089H	ENSP00000290039:R1089H	R	+	2	0	CACHD1	64919541	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.388000	0.97237	2.724000	0.93272	0.563000	0.77884	CGT		0.443	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925	
GSTM2	2946	broad.mit.edu	37	1	110211966	110211966	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:110211966C>T	ENST00000241337.4	+	4	282	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	GSTM2_ENST00000369827.3_Missense_Mutation_p.R76W|GSTM2_ENST00000369831.2_Missense_Mutation_p.R78W|GSTM2_ENST00000460717.3_Missense_Mutation_p.R78W|GSTM2_ENST00000464206.1_3'UTR|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000369829.2_Missense_Mutation_p.R78W|GSTM2_ENST00000442650.1_Missense_Mutation_p.R78W	NM_000848.3	NP_000839.1	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 (muscle)	78	GST N-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|cellular response to caffeine (GO:0071313)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|nitrobenzene metabolic process (GO:0018916)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|relaxation of cardiac muscle (GO:0055119)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	CGCCATCCTGCGGTACATTGC	0.592																																						.											0													236.0	197.0	210.0					1																	110211966		2203	4300	6503	SO:0001583	missense	2946			M63509	CCDS808.1, CCDS44192.1	1p13.3	2012-06-21	2008-11-26		ENSG00000213366	ENSG00000213366	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4634	protein-coding gene	gene with protein product		138380	"""glutathione S-transferase M2 (muscle)"""			2034681, 2345169	Standard	NM_000848		Approved	GST4		P28161	OTTHUMG00000011638	ENST00000241337.4:c.232C>T	1.37:g.110211966C>T	ENSP00000241337:p.Arg78Trp	Somatic		WXS	Illumina HiSeq	Phase_I	B4DRY4|E9PEM9|Q2M318|Q5TZY5|Q8WWE1	Missense_Mutation	SNP	ENST00000241337.4	37	CCDS808.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596233	0.66332	.	.	ENSG00000213366	ENST00000442650;ENST00000369827;ENST00000369831;ENST00000460717;ENST00000467579;ENST00000369829;ENST00000241337	T;T;T;T;T;T;T	0.09538	2.97;2.97;2.97;2.97;2.97;2.97;2.97	3.12	3.12	0.35913	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.068387	0.56097	U	0.000040	T	0.45337	0.1337	H	0.99777	4.77	0.50313	D	0.999867	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.68044	-0.5513	10	0.87932	D	0	.	11.6039	0.51020	0.0:1.0:0.0:0.0	.	78;78;78	E9PEM9;P28161;Q0D2I8	.;GSTM2_HUMAN;.	W	78;76;78;78;78;78;78	ENSP00000416883:R78W;ENSP00000358842:R76W;ENSP00000358846:R78W;ENSP00000435910:R78W;ENSP00000435157:R78W;ENSP00000358844:R78W;ENSP00000241337:R78W	ENSP00000241337:R78W	R	+	1	2	GSTM2	110013489	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	2.607000	0.46300	1.740000	0.51718	0.552000	0.68991	CGG		0.592	GSTM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032167.2	NM_000848	
SLC6A17	388662	broad.mit.edu;mdanderson.org;bcgsc.ca	37	1	110709687	110709687	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:110709687G>A	ENST00000331565.4	+	2	621	c.136G>A	c.(136-138)Ggc>Agc	p.G46S	RP5-1028L10.1_ENST00000418579.1_RNA|RP5-1028L10.1_ENST00000430098.1_RNA|RP5-1028L10.1_ENST00000443008.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	46					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TGAGGCAGGCGGCAAGCAGAA	0.612																																						.											0													61.0	50.0	54.0					1																	110709687		2203	4300	6503	SO:0001583	missense	388662				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.136G>A	1.37:g.110709687G>A	ENSP00000330199:p.Gly46Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	37	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	G	1.760	-0.487155	0.04352	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.74106	-0.81	4.55	1.64	0.23874	.	1.365360	0.04314	N	0.349445	T	0.26557	0.0649	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.22800	-1.0206	10	0.06757	T	0.87	.	8.1845	0.31330	0.3973:0.0:0.6027:0.0	.	46	Q9H1V8	S6A17_HUMAN	S	46	ENSP00000330199:G46S	ENSP00000330199:G46S	G	+	1	0	SLC6A17	110511210	0.445000	0.25657	0.441000	0.26858	0.138000	0.21146	0.667000	0.25112	0.168000	0.19655	-0.993000	0.02533	GGC		0.612	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280	
IGSF3	3321	broad.mit.edu;mdanderson.org;bcgsc.ca	37	1	117150686	117150686	+	Missense_Mutation	SNP	C	C	T	rs202203327	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:117150686C>T	ENST00000369486.3	-	5	1865	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	IGSF3_ENST00000369483.1_Missense_Mutation_p.R367H|IGSF3_ENST00000318837.6_Missense_Mutation_p.R367H	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	367	Ig-like C2-type 3.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ATCTTCCTGGCGGAGGTGGTA	0.537																																						.											0													61.0	63.0	62.0					1																	117150686		2199	4295	6494	SO:0001583	missense	3321			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1100G>A	1.37:g.117150686C>T	ENSP00000358498:p.Arg367His	Somatic		WXS	Illumina HiSeq	Phase_I	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442537	0.63067	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.68479	-0.33;-0.33;-0.33	4.67	4.67	0.58626	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.187265	0.47852	D	0.000220	T	0.59636	0.2208	N	0.12182	0.205	0.42261	D	0.992011	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.994;1.0;0.997	T	0.64622	-0.6364	10	0.39692	T	0.17	-35.2863	15.4322	0.75108	0.0:1.0:0.0:0.0	.	367;367;367	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	H	367	ENSP00000358498:R367H;ENSP00000358495:R367H;ENSP00000321184:R367H	ENSP00000321184:R367H	R	-	2	0	IGSF3	116952209	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.622000	0.46427	2.571000	0.86741	0.557000	0.71058	CGC		0.537	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542	
HORMAD1	84072	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	150679259	150679259	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:150679259C>T	ENST00000361824.2	-	10	679	c.574G>A	c.(574-576)Ggt>Agt	p.G192S	HORMAD1_ENST00000368995.4_Missense_Mutation_p.G112S|HORMAD1_ENST00000368993.2_Missense_Mutation_p.G192S|HORMAD1_ENST00000322343.7_Missense_Mutation_p.G185S	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	192	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TCCTTAAAACCGGGAGGCTGG	0.343																																						.											0													58.0	59.0	59.0					1																	150679259		2202	4298	6500	SO:0001583	missense	84072			AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.574G>A	1.37:g.150679259C>T	ENSP00000355167:p.Gly192Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	ENST00000361824.2	37	CCDS967.1	.	.	.	.	.	.	.	.	.	.	C	33	5.253463	0.95336	.	.	ENSG00000143452	ENST00000368995;ENST00000368993;ENST00000368992;ENST00000540570;ENST00000322343;ENST00000361824;ENST00000368987;ENST00000442853	T;T;T;T	0.54479	0.57;1.1;1.19;1.12	5.6	5.6	0.85130	DNA-binding HORMA (4);	0.000000	0.85682	D	0.000000	T	0.74359	0.3706	M	0.90252	3.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.76748	-0.2845	10	0.45353	T	0.12	-18.6661	18.1798	0.89773	0.0:1.0:0.0:0.0	.	112;185;192	Q86X24-4;Q86X24-2;Q86X24	.;.;HORM1_HUMAN	S	112;192;121;112;185;192;121;114	ENSP00000357991:G112S;ENSP00000357989:G192S;ENSP00000326489:G185S;ENSP00000355167:G192S	ENSP00000326489:G185S	G	-	1	0	HORMAD1	148945883	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	7.067000	0.76741	2.644000	0.89710	0.467000	0.42956	GGT		0.343	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1	NM_032132	
POGZ	23126	broad.mit.edu;ucsc.edu;mdanderson.org	37	1	151377515	151377515	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:151377515G>A	ENST00000271715.2	-	19	4310	c.3996C>T	c.(3994-3996)ccC>ccT	p.P1332P	POGZ_ENST00000531094.1_Silent_p.P1270P|POGZ_ENST00000392723.1_Silent_p.P1279P|POGZ_ENST00000491586.1_Silent_p.P1288P|POGZ_ENST00000368863.2_Silent_p.P1237P|POGZ_ENST00000409503.1_Silent_p.P1323P|POGZ_ENST00000540984.1_Silent_p.P694P|POGZ_ENST00000361398.3_Silent_p.P1279P	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1332					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGTTGCCATCGGGGCCAGGCA	0.537											OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										.											0													92.0	87.0	89.0					1																	151377515		2203	4300	6503	SO:0001819	synonymous_variant	23126			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3996C>T	1.37:g.151377515G>A		Somatic	1739	WXS	Illumina HiSeq	Phase_I	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Silent	SNP	ENST00000271715.2	37	CCDS997.1																																																																																				0.537	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171	
SNX27	81609	broad.mit.edu	37	1	151641045	151641045	+	Silent	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:151641045T>C	ENST00000458013.2	+	7	1203	c.1083T>C	c.(1081-1083)ctT>ctC	p.L361L	SNX27_ENST00000368843.3_Silent_p.L361L|SNX27_ENST00000368838.1_Silent_p.L268L|SNX27_ENST00000482791.1_3'UTR			Q96L92	SNX27_HUMAN	sorting nexin family member 27	361	FERM-like region F1.|Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAAAGTGGCTTTTTACAACAG	0.383																																					Colon(46;291 966 40145 41237 41888)	.											0													96.0	94.0	95.0					1																	151641045		2203	4300	6503	SO:0001819	synonymous_variant	81609			AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.1083T>C	1.37:g.151641045T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Silent	SNP	ENST00000458013.2	37																																																																																					0.383	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918	
UBAP2L	9898	broad.mit.edu	37	1	154209571	154209571	+	Missense_Mutation	SNP	C	C	T	rs147740832		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:154209571C>T	ENST00000361546.2	+	7	704	c.662C>T	c.(661-663)aCg>aTg	p.T221M	UBAP2L_ENST00000271877.7_Missense_Mutation_p.T232M|UBAP2L_ENST00000428931.1_Missense_Mutation_p.T221M|UBAP2L_ENST00000343815.6_Missense_Mutation_p.T221M			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	221					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGCGGCAATACGTGGAACAAC	0.408																																						.											0								C	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	132.0	112.0	119.0		662,662	5.7	1.0	1	dbSNP_134	119	0,8600		0,0,4300	no	missense,missense	UBAP2L	NM_001127320.1,NM_014847.3	81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	221/984,221/1088	154209571	1,13005	2203	4300	6503	SO:0001583	missense	9898			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.662C>T	1.37:g.154209571C>T	ENSP00000355343:p.Thr221Met	Somatic		WXS	Illumina HiSeq	Phase_I	B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896345	0.91962	2.27E-4	0.0	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000271877;ENST00000412596;ENST00000368504;ENST00000437652;ENST00000456325;ENST00000361546	T;T;T;T;T;T;T;T	0.51817	2.56;2.53;2.55;0.78;0.75;0.78;0.69;2.53	5.68	5.68	0.88126	.	0.105567	0.64402	D	0.000004	T	0.54631	0.1870	L	0.36672	1.1	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.991;0.965;0.996;0.996;0.994	T	0.56932	-0.7897	10	0.66056	D	0.02	-4.3154	18.7723	0.91898	0.0:1.0:0.0:0.0	.	135;232;214;221;221	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	M	221;221;232;221;232;214;221;221	ENSP00000345308:T221M;ENSP00000389445:T221M;ENSP00000271877:T232M;ENSP00000389052:T221M;ENSP00000357490:T232M;ENSP00000389717:T214M;ENSP00000415310:T221M;ENSP00000355343:T221M	ENSP00000271877:T232M	T	+	2	0	UBAP2L	152476195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.431000	0.80335	2.676000	0.91093	0.591000	0.81541	ACG		0.408	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847	
CCDC181	57821	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	169391220	169391220	+	Missense_Mutation	SNP	C	C	T	rs376964448		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:169391220C>T	ENST00000367806.3	-	3	601	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000545005.1_Missense_Mutation_p.R150Q|CCDC181_ENST00000367805.3_Missense_Mutation_p.R150Q	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	150						nucleus (GO:0005634)											CTTAAGTTTTCGCTCCCTTTT	0.348																																						.											0								C	GLN/ARG	0,4406		0,0,2203	107.0	111.0	110.0		449	4.4	0.7	1		110	2,8598	2.2+/-6.3	0,2,4298	no	missense	C1orf114	NM_021179.1	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	150/509	169391220	2,13004	2203	4300	6503	SO:0001583	missense	57821			AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.449G>A	1.37:g.169391220C>T	ENSP00000356780:p.Arg150Gln	Somatic		WXS	Illumina HiSeq	Phase_I	O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37		.	.	.	.	.	.	.	.	.	.	C	23.0	4.365590	0.82463	0.0	2.33E-4	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.61040	0.14;0.14;0.14;0.29	5.34	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.68146	0.2969	M	0.76002	2.32	0.41703	D	0.989414	P;D;D	0.89917	0.931;1.0;1.0	B;D;D	0.91635	0.291;0.999;0.999	T	0.75476	-0.3304	9	0.87932	D	0	-9.2924	13.8307	0.63380	0.0:0.9263:0.0:0.0737	.	150;150;150	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	Q	150	ENSP00000356779:R150Q;ENSP00000356780:R150Q;ENSP00000442297:R150Q;ENSP00000411000:R150Q	ENSP00000356779:R150Q	R	-	2	0	C1orf114	167657844	0.415000	0.25416	0.669000	0.29828	0.974000	0.67602	6.057000	0.71119	1.249000	0.43950	0.563000	0.77884	CGA		0.348	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179	
PLXNA2	5362	broad.mit.edu;bcgsc.ca	37	1	208383788	208383788	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:208383788T>C	ENST00000367033.3	-	3	1965	c.1208A>G	c.(1207-1209)aAc>aGc	p.N403S		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	403	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TCCACAGAAGTTATCATCGAT	0.577																																						.											0													65.0	57.0	60.0					1																	208383788		2203	4300	6503	SO:0001583	missense	5362			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1208A>G	1.37:g.208383788T>C	ENSP00000356000:p.Asn403Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.466119	0.43839	.	.	ENSG00000076356	ENST00000367033	T	0.10860	2.83	5.53	3.19	0.36642	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.341026	0.31909	N	0.006873	T	0.07728	0.0194	L	0.33485	1.01	0.36246	D	0.853606	B;B	0.11235	0.004;0.002	B;B	0.11329	0.006;0.002	T	0.15809	-1.0424	10	0.42905	T	0.14	.	5.3898	0.16237	0.0:0.1449:0.1517:0.7034	.	457;403	O75051-2;O75051	.;PLXA2_HUMAN	S	403	ENSP00000356000:N403S	ENSP00000356000:N403S	N	-	2	0	PLXNA2	206450411	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	1.567000	0.36407	0.903000	0.36546	0.533000	0.62120	AAC		0.577	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179	
TARBP1	6894	broad.mit.edu	37	1	234527364	234527364	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:234527364T>C	ENST00000040877.1	-	30	4824	c.4825A>G	c.(4825-4827)Acc>Gcc	p.T1609A	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1609					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TGCTGCCTGGTGTACTCCCAG	0.488																																						.											0													64.0	55.0	58.0					1																	234527364		2203	4300	6503	SO:0001583	missense	6894				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4825A>G	1.37:g.234527364T>C	ENSP00000040877:p.Thr1609Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	T	10.41	1.342560	0.24339	.	.	ENSG00000059588	ENST00000040877	T	0.28454	1.61	5.47	4.34	0.51931	.	0.056427	0.64402	N	0.000001	T	0.19446	0.0467	N	0.21448	0.665	0.58432	D	0.999999	B	0.30193	0.272	B	0.22386	0.039	T	0.03717	-1.1010	10	0.39692	T	0.17	-15.7136	11.2194	0.48846	0.0:0.0722:0.0:0.9278	.	1609	Q13395	TARB1_HUMAN	A	1609	ENSP00000040877:T1609A	ENSP00000040877:T1609A	T	-	1	0	TARBP1	232593987	1.000000	0.71417	0.352000	0.25734	0.253000	0.25986	5.114000	0.64648	0.916000	0.36871	0.482000	0.46254	ACC		0.488	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646	
OR2L13	284521	broad.mit.edu	37	1	248154473	248154473	+	Intron	SNP	C	C	T	rs367825892		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:248154473C>T	ENST00000366478.2	+	1	194					NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GGCCCTGACACGAGTGATTCA	0.468																																						.											0																																										SO:0001627	intron_variant	26247			BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000366478.2:c.-144+53787C>T	1.37:g.248154473C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5VUR5	RNA	SNP	ENST00000366478.2	37	CCDS1637.1																																																																																				0.468	OR2L13-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_175911	
OR2M3	127062	broad.mit.edu;bcgsc.ca	37	1	248366613	248366613	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:248366613G>A	ENST00000456743.1	+	1	282	c.244G>A	c.(244-246)Gcc>Acc	p.A82T		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACCCAAGATGGCCTTCAACTA	0.512																																						.											0													270.0	262.0	265.0					1																	248366613		2203	4297	6500	SO:0001583	missense	127062				CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.244G>A	1.37:g.248366613G>A	ENSP00000389625:p.Ala82Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287757	0.23478	.	.	ENSG00000228198	ENST00000456743	T	0.00325	8.1	2.44	-1.56	0.08532	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31976	U	0.006763	T	0.00178	0.0005	M	0.64170	1.965	0.09310	N	1	B	0.19706	0.038	B	0.27715	0.082	T	0.50083	-0.8869	10	0.34782	T	0.22	.	0.0794	0.00030	0.296:0.166:0.2028:0.3352	.	82	Q8NG83	OR2M3_HUMAN	T	82	ENSP00000389625:A82T	ENSP00000389625:A82T	A	+	1	0	OR2M3	246433236	0.000000	0.05858	0.001000	0.08648	0.251000	0.25915	-2.471000	0.00990	-0.058000	0.13177	-0.491000	0.04670	GCC		0.512	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689	
RSU1	6251	broad.mit.edu	37	10	16858984	16858984	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:16858984C>T	ENST00000377921.3	-	1	398	c.97G>A	c.(97-99)Gtc>Atc	p.V33I	RSU1_ENST00000345264.5_Missense_Mutation_p.V33I|RSU1_ENST00000602389.1_Intron|RSU1_ENST00000464074.2_Intron			Q15404	RSU1_HUMAN	Ras suppressor protein 1	33					cell junction assembly (GO:0034329)|positive regulation of neural precursor cell proliferation (GO:2000179)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		AGGCCGTTGACATCCAGCATG	0.562																																						.											0													118.0	100.0	106.0					10																	16858984		2203	4300	6503	SO:0001583	missense	6251			AK055596	CCDS7112.1, CCDS31157.1	10p13	2012-09-20			ENSG00000148484	ENSG00000148484			10464	protein-coding gene	gene with protein product		179555				8288261	Standard	NM_152724		Approved	RSP-1, FLJ31034	uc001iol.3	Q15404	OTTHUMG00000017740	ENST00000377921.3:c.97G>A	10.37:g.16858984C>T	ENSP00000367154:p.Val33Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A8KA46|D3DRU3|Q6FI17	Missense_Mutation	SNP	ENST00000377921.3	37	CCDS7112.1	.	.	.	.	.	.	.	.	.	.	C	3.759	-0.050046	0.07407	.	.	ENSG00000148484	ENST00000345264;ENST00000377921	T;T	0.37058	1.22;1.22	5.21	3.38	0.38709	.	.	.	.	.	T	0.16642	0.0400	N	0.04508	-0.205	0.36840	D	0.887341	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.001	T	0.10154	-1.0642	9	0.22109	T	0.4	.	9.6892	0.40118	0.0:0.7749:0.0:0.2251	.	33;33	B0YJ73;Q15404	.;RSU1_HUMAN	I	33	ENSP00000339521:V33I;ENSP00000367154:V33I	ENSP00000339521:V33I	V	-	1	0	RSU1	16898990	0.968000	0.33430	0.947000	0.38551	0.667000	0.39255	0.782000	0.26788	0.800000	0.34041	0.555000	0.69702	GTC		0.562	RSU1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047006.1	NM_012425, NM_152724	
NEBL	10529	broad.mit.edu	37	10	21097515	21097515	+	Silent	SNP	G	G	A	rs140245727	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:21097515G>A	ENST00000377122.4	-	26	3081	c.2685C>T	c.(2683-2685)gaC>gaT	p.D895D	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	895	Linker.				cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTGACCTGTCGTCTCCGAGAC	0.458													G|||	5	0.000998403	0.0038	0.0	5008	,	,		16098	0.0		0.0	False		,,,				2504	0.0					.											0								G	,,	16,4390	23.3+/-48.9	0,16,2187	135.0	126.0	129.0		,2685,	-2.4	1.0	10	dbSNP_134	129	0,8600		0,0,4300	no	intron,coding-synonymous,intron	NEBL	NM_001173484.1,NM_006393.2,NM_213569.2	,,	0,16,6487	AA,AG,GG		0.0,0.3631,0.123	,,	,895/1015,	21097515	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	10529			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2685C>T	10.37:g.21097515G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	ENST00000377122.4	37	CCDS7134.1																																																																																				0.458	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393	
PLCE1	51196	broad.mit.edu	37	10	96022395	96022395	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:96022395G>A	ENST00000371380.3	+	13	4194	c.3959G>A	c.(3958-3960)gGc>gAc	p.G1320D	PLCE1_ENST00000371375.1_Missense_Mutation_p.G1012D|PLCE1_ENST00000371385.3_Missense_Mutation_p.G1012D|PLCE1_ENST00000260766.3_Missense_Mutation_p.G1320D			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1320					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACATCTCTGGGCATTTTTGGG	0.473																																						.											0													213.0	206.0	208.0					10																	96022395		1988	4176	6164	SO:0001583	missense	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3959G>A	10.37:g.96022395G>A	ENSP00000360431:p.Gly1320Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926955	0.92319	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.24908	1.83;1.83;1.85;1.85	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.46870	0.1415	L	0.44542	1.39	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.996	T	0.28138	-1.0053	10	0.56958	D	0.05	.	19.9596	0.97236	0.0:0.0:1.0:0.0	.	1304;1012;1320	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	D	1320;1320;1012;1012	ENSP00000260766:G1320D;ENSP00000360431:G1320D;ENSP00000360438:G1012D;ENSP00000360426:G1012D	ENSP00000260766:G1320D	G	+	2	0	PLCE1	96012385	1.000000	0.71417	0.976000	0.42696	0.799000	0.45148	9.827000	0.99397	2.726000	0.93360	0.655000	0.94253	GGC		0.473	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341	
DNMBP	23268	broad.mit.edu;ucsc.edu	37	10	101716912	101716912	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:101716912G>A	ENST00000324109.4	-	4	410	c.319C>T	c.(319-321)Cga>Tga	p.R107*	DNMBP_ENST00000342239.3_Nonsense_Mutation_p.R107*|DNMBP-AS1_ENST00000434409.1_RNA	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	107	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CAGCAGCTTCGGCCCTGCAGC	0.602																																						.											0													21.0	22.0	22.0					10																	101716912		2203	4299	6502	SO:0001587	stop_gained	23268			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.319C>T	10.37:g.101716912G>A	ENSP00000315659:p.Arg107*	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IVY3|Q9Y2L3	Nonsense_Mutation	SNP	ENST00000324109.4	37	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	G	32	5.124634	0.94429	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	.	.	.	5.46	4.55	0.56014	.	0.000000	0.41712	D	0.000830	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6987	15.8694	0.79101	0.0:0.0:0.8632:0.1368	.	.	.	.	X	107	.	ENSP00000315659:R107X	R	-	1	2	DNMBP	101706902	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.754000	0.47532	1.412000	0.46977	0.555000	0.69702	CGA		0.602	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221	
SEMA4G	57715	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	102743469	102743469	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:102743469T>C	ENST00000370250.4	+	14	2471	c.2098T>C	c.(2098-2100)Tgt>Cgt	p.C700R	SEMA4G_ENST00000517724.1_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000210633.3_Missense_Mutation_p.C705R|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370242.4_Intron|MRPL43_ENST00000370241.3_Intron	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	700					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CTATGTGGCCTGTCTGCGGGA	0.637																																						.											0													54.0	49.0	51.0					10																	102743469		2203	4300	6503	SO:0001583	missense	57715			AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.2098T>C	10.37:g.102743469T>C	ENSP00000359270:p.Cys700Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37		.	.	.	.	.	.	.	.	.	.	t	19.60	3.857746	0.71834	.	.	ENSG00000095539	ENST00000370250;ENST00000210633	T;T	0.19394	2.15;2.21	5.53	5.53	0.82687	.	0.913030	0.09543	N	0.788077	T	0.33235	0.0856	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.01545	-1.1328	10	0.06757	T	0.87	.	14.843	0.70240	0.0:0.0:0.0:1.0	.	705	Q9NTN9-2	.	R	700;705	ENSP00000359270:C700R;ENSP00000210633:C705R	ENSP00000210633:C705R	C	+	1	0	SEMA4G	102733459	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.232000	0.78116	2.111000	0.64477	0.449000	0.29647	TGT		0.637	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2		
DNHD1	144132	broad.mit.edu;mdanderson.org;bcgsc.ca	37	11	6555328	6555328	+	Missense_Mutation	SNP	G	G	A	rs372619391		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:6555328G>A	ENST00000527990.2	+	12	2923	c.2923G>A	c.(2923-2925)Gtc>Atc	p.V975I	DNHD1_ENST00000254579.6_Missense_Mutation_p.V975I			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	975					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCACCAGCTCGTCTCCCTAGA	0.582																																						.											0								G	ILE/VAL	2,1382		0,2,690	25.0	24.0	24.0		2923	-0.3	0.0	11		24	0,3182		0,0,1591	no	missense	DNHD1	NM_144666.2	29	0,2,2281	AA,AG,GG		0.0,0.1445,0.0438	benign	975/4754	6555328	2,4564	692	1591	2283	SO:0001583	missense	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.2923G>A	11.37:g.6555328G>A	ENSP00000436180:p.Val975Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.752282	0.00663	0.001445	0.0	ENSG00000179532	ENST00000254579;ENST00000527990	T;T	0.25085	1.82;1.82	6.17	-0.271	0.12922	.	.	.	.	.	T	0.08626	0.0214	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30416	-0.9979	9	0.37606	T	0.19	.	5.3228	0.15891	0.5461:0.1439:0.3099:0.0	.	975	Q96M86	DNHD1_HUMAN	I	975	ENSP00000254579:V975I;ENSP00000436180:V975I	ENSP00000254579:V975I	V	+	1	0	DNHD1	6511904	0.002000	0.14202	0.045000	0.18777	0.024000	0.10985	-0.061000	0.11693	-0.266000	0.09339	-0.238000	0.12139	GTC		0.582	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666	
TAF10	6881	broad.mit.edu;ucsc.edu;mdanderson.org	37	11	6632970	6632970	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:6632970G>A	ENST00000299424.4	-	2	789	c.312C>T	c.(310-312)aaC>aaT	p.N104N	RP11-732A19.2_ENST00000527398.1_RNA|TAF10_ENST00000531760.1_5'UTR	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	104					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|perinuclear region of cytoplasm (GO:0048471)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|RNA polymerase binding (GO:0070063)|transcription coactivator activity (GO:0003713)						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCACGTCTCCGTTGGCCGCGC	0.637																																						.											0													36.0	42.0	40.0					11																	6632970		2201	4296	6497	SO:0001819	synonymous_variant	6881			U13991, U25816	CCDS7769.1	11p15.5-p15.2	2006-11-14	2002-08-29	2001-12-07	ENSG00000166337	ENSG00000166337			11543	protein-coding gene	gene with protein product		600475	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD"""	TAF2H, TAF2A		7923369	Standard	NM_006284		Approved	TAFII30	uc001mej.2	Q12962	OTTHUMG00000133402	ENST00000299424.4:c.312C>T	11.37:g.6632970G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O00703|Q13175|Q6FH13	Silent	SNP	ENST00000299424.4	37	CCDS7769.1																																																																																				0.637	TAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257259.2	NM_006284	
TPP1	1200	broad.mit.edu;bcgsc.ca	37	11	6638918	6638918	+	Missense_Mutation	SNP	C	C	T	rs201613668		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:6638918C>T	ENST00000299427.6	-	4	379	c.319G>A	c.(319-321)Gga>Aga	p.G107R	RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000534644.1_5'UTR|TPP1_ENST00000533371.1_5'UTR	NM_000391.3	NP_000382.3	P49638	TTPA_HUMAN	tripeptidyl peptidase I	0	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	Vitamin E(DB00163)	TTCTGGGCTCCGGCTGCCAAG	0.542																																						.											0													145.0	137.0	140.0					11																	6638918		2201	4296	6497	SO:0001583	missense	1200			AF017456	CCDS7770.1	11p15.4	2014-09-17	2004-12-09	2004-12-10	ENSG00000166340	ENSG00000166340			2073	protein-coding gene	gene with protein product	"""TPP I"""	607998	"""ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)"", ""spinocerebellar ataxia, autosomal recessive 7"""	CLN2, SCAR7		9653647, 23418007	Standard	NM_000391		Approved		uc001mel.1	O14773	OTTHUMG00000133404	ENST00000299427.6:c.319G>A	11.37:g.6638918C>T	ENSP00000299427:p.Gly107Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q71V64	Missense_Mutation	SNP	ENST00000299427.6	37	CCDS7770.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761740	0.69763	.	.	ENSG00000166340	ENST00000299427;ENST00000453338;ENST00000436873	T;T	0.80304	-1.36;-1.36	5.7	5.7	0.88788	Proteinase inhibitor, propeptide (1);Peptidase S53, propeptide (2);	0.000000	0.85682	D	0.000000	D	0.92414	0.7592	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.93911	0.7197	10	0.87932	D	0	-19.7212	17.0031	0.86385	0.0:1.0:0.0:0.0	.	107;107	B4DEQ3;O14773	.;TPP1_HUMAN	R	107	ENSP00000299427:G107R;ENSP00000398136:G107R	ENSP00000299427:G107R	G	-	1	0	TPP1	6595494	1.000000	0.71417	1.000000	0.80357	0.383000	0.30230	6.487000	0.73633	2.688000	0.91661	0.655000	0.94253	GGA		0.542	TPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257261.2		
GALNT18	374378	broad.mit.edu;mdanderson.org	37	11	11400665	11400665	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:11400665C>T	ENST00000227756.4	-	4	1153	c.742G>A	c.(742-744)Gca>Aca	p.A248T		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	248	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TCAAAGAGTGCCACCACAGGG	0.607																																						.											0													68.0	59.0	62.0					11																	11400665		2201	4294	6495	SO:0001583	missense	374378			AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.742G>A	11.37:g.11400665C>T	ENSP00000227756:p.Ala248Thr	Somatic		WXS	Illumina HiSeq	Phase_I	O95903|Q8NDY9	Missense_Mutation	SNP	ENST00000227756.4	37	CCDS7807.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941178	0.73557	.	.	ENSG00000110328	ENST00000227756	T	0.61274	0.12	5.82	5.82	0.92795	Glycosyl transferase, family 2 (1);	0.066568	0.56097	D	0.000025	T	0.50292	0.1607	N	0.11284	0.12	0.80722	D	1	P	0.49447	0.924	P	0.55785	0.784	T	0.41698	-0.9494	10	0.02654	T	1	.	18.6715	0.91513	0.0:1.0:0.0:0.0	.	248	Q6P9A2	GLTL4_HUMAN	T	248	ENSP00000227756:A248T	ENSP00000227756:A248T	A	-	1	0	GALNTL4	11357241	1.000000	0.71417	0.999000	0.59377	0.863000	0.49368	7.760000	0.85248	2.762000	0.94881	0.514000	0.50259	GCA		0.607	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516	
KCNC1	3746	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	17793281	17793281	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:17793281C>T	ENST00000379472.3	+	2	670	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	KCNC1_ENST00000265969.6_Missense_Mutation_p.R214C	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	214					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	GACCCACGAGCGCTTCAACCC	0.567																																						.											0													170.0	137.0	148.0					11																	17793281		2200	4293	6493	SO:0001583	missense	3746			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.640C>T	11.37:g.17793281C>T	ENSP00000368785:p.Arg214Cys	Somatic		WXS	Illumina HiSeq	Phase_I	K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799882	0.70567	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.97430	-4.38;-4.38	4.7	3.75	0.43078	.	0.123303	0.48286	D	0.000188	D	0.93818	0.8023	N	0.14661	0.345	0.53688	D	0.99997	P;P	0.49358	0.923;0.896	P;B	0.48677	0.586;0.416	D	0.94079	0.7342	10	0.62326	D	0.03	.	11.9761	0.53091	0.3982:0.6018:0.0:0.0	.	214;214	Q3KNS8;P48547	.;KCNC1_HUMAN	C	214	ENSP00000265969:R214C;ENSP00000368785:R214C	ENSP00000265969:R214C	R	+	1	0	KCNC1	17749857	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.554000	0.60760	2.166000	0.68216	0.505000	0.49811	CGC		0.567	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976	
KIF18A	81930	broad.mit.edu;mdanderson.org	37	11	28110079	28110079	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:28110079C>G	ENST00000263181.6	-	6	1179	c.889G>C	c.(889-891)Gat>Cat	p.D297H		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	297	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						ACCTTTGAATCTGCTAAGGCA	0.328																																						.											0													66.0	60.0	62.0					11																	28110079		2202	4299	6501	SO:0001583	missense	81930			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.889G>C	11.37:g.28110079C>G	ENSP00000263181:p.Asp297His	Somatic		WXS	Illumina HiSeq	Phase_I	Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033272	0.35893	.	.	ENSG00000121621	ENST00000263181	T	0.75938	-0.98	5.56	3.68	0.42216	Kinesin, motor domain (3);	0.093895	0.64402	D	0.000001	D	0.86789	0.6017	M	0.89287	3.02	0.51012	D	0.9999	D	0.71674	0.998	D	0.71414	0.973	D	0.88015	0.2765	10	0.87932	D	0	.	12.4601	0.55727	0.0:0.8619:0.0:0.1381	.	297	Q8NI77	KI18A_HUMAN	H	297	ENSP00000263181:D297H	ENSP00000263181:D297H	D	-	1	0	KIF18A	28066655	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	4.062000	0.57492	0.695000	0.31675	-0.229000	0.12294	GAT		0.328	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217	
FBXO3	26273	broad.mit.edu;ucsc.edu;mdanderson.org	37	11	33770354	33770354	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:33770354G>A	ENST00000265651.3	-	9	1035	c.1017C>T	c.(1015-1017)gaC>gaT	p.D339D	FBXO3_ENST00000531080.1_Silent_p.D26D|FBXO3_ENST00000448981.2_Silent_p.D339D|FBXO3_ENST00000530401.1_Silent_p.D334D|FBXO3_ENST00000526785.1_Silent_p.D226D|FBXO3_ENST00000532057.1_Silent_p.D26D|FBXO3_ENST00000534136.1_Silent_p.D339D	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	339	ApaG. {ECO:0000255|PROSITE- ProRule:PRU00412}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		CTTCTTCCACGTCACCCTTAG	0.403																																						.											0													117.0	113.0	114.0					11																	33770354		2202	4298	6500	SO:0001819	synonymous_variant	26273			AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"""F-boxes /  ""other"""""	13582	protein-coding gene	gene with protein product		609089	"""F-box only protein 3"""			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.1017C>T	11.37:g.33770354G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Silent	SNP	ENST00000265651.3	37	CCDS7887.1																																																																																				0.403	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	NM_012175	
GLYATL1	92292	broad.mit.edu;bcgsc.ca	37	11	58711065	58711065	+	5'UTR	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:58711065C>T	ENST00000317391.4	+	0	224				GLYATL1_ENST00000300079.5_Missense_Mutation_p.A25V|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1							mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	tccccaggagcgcgaagtgaa	0.443																																						.											0													57.0	53.0	54.0					11																	58711065		2201	4295	6496	SO:0001623	5_prime_UTR_variant	92292			AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.-117C>T	11.37:g.58711065C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	37	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	6.405	0.442787	0.12164	.	.	ENSG00000166840	ENST00000526351;ENST00000300079	T;T	0.52526	0.66;2.03	0.113	0.113	0.14631	.	.	.	.	.	T	0.18425	0.0442	N	0.08118	0	0.09310	N	0.999999	P	0.47841	0.901	B	0.29176	0.099	T	0.14144	-1.0483	8	0.87932	D	0	.	.	.	.	.	25	Q969I3-2	.	V	17;25	ENSP00000434652:A17V;ENSP00000300079:A25V	ENSP00000300079:A25V	A	+	2	0	GLYATL1	58467641	0.006000	0.16342	0.018000	0.16275	0.019000	0.09904	0.212000	0.17497	0.183000	0.20059	0.186000	0.17326	GCG		0.443	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661	
DDB1	1642	broad.mit.edu;mdanderson.org;bcgsc.ca	37	11	61081572	61081572	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:61081572C>T	ENST00000301764.7	-	14	2097	c.1700G>A	c.(1699-1701)cGt>cAt	p.R567H	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'Flank	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	567	Interaction with CDT1.|WD repeat beta-propeller B; Interaction with CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTTCAAGATACGAGCCGAGAT	0.507								Nucleotide excision repair (NER)																														.											0													92.0	95.0	94.0					11																	61081572		2203	4299	6502	SO:0001583	missense	1642			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.1700G>A	11.37:g.61081572C>T	ENSP00000301764:p.Arg567His	Somatic		WXS	Illumina HiSeq	Phase_I	A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787793	0.70337	.	.	ENSG00000167986	ENST00000301764;ENST00000535147;ENST00000537877;ENST00000535967;ENST00000539739	T;T;T	0.52526	1.17;0.7;0.66	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.48429	0.1499	L	0.60957	1.885	0.80722	D	1	P	0.38455	0.632	B	0.34722	0.188	T	0.50508	-0.8820	10	0.52906	T	0.07	-12.6831	20.1379	0.98040	0.0:1.0:0.0:0.0	.	567	Q16531	DDB1_HUMAN	H	567;34;131;218;286	ENSP00000301764:R567H;ENSP00000437713:R218H;ENSP00000445563:R286H	ENSP00000301764:R567H	R	-	2	0	DDB1	60838148	1.000000	0.71417	0.839000	0.33178	0.920000	0.55202	7.370000	0.79589	2.779000	0.95612	0.655000	0.94253	CGT		0.507	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923	
WDR74	54663	broad.mit.edu;mdanderson.org	37	11	62601996	62601996	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:62601996G>A	ENST00000525239.1	-	8	1159	c.622C>T	c.(622-624)Cgt>Tgt	p.R208C	WDR74_ENST00000278856.4_Missense_Mutation_p.R208C|STX5_ENST00000294179.3_5'Flank|WDR74_ENST00000311713.7_Missense_Mutation_p.R208C|WDR74_ENST00000529106.1_Missense_Mutation_p.R208C|STX5_ENST00000377897.4_5'Flank|STX5_ENST00000394690.1_5'Flank|STX5_ENST00000541317.1_5'Flank|WDR74_ENST00000540620.1_5'Flank|RP11-727F15.9_ENST00000535817.1_RNA|RP11-727F15.9_ENST00000535867.1_RNA|WDR74_ENST00000525752.1_Missense_Mutation_p.R151C			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	208					blastocyst formation (GO:0001825)|RNA metabolic process (GO:0016070)	nucleolus (GO:0005730)|nucleus (GO:0005634)				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						TCATAAACACGGACCTAGAGG	0.572																																						.											0													39.0	44.0	43.0					11																	62601996		2056	4210	6266	SO:0001583	missense	54663				CCDS44630.1	11q12.3	2013-01-09				ENSG00000133316		"""WD repeat domain containing"""	25529	protein-coding gene	gene with protein product							Standard	NM_018093		Approved	FLJ10439	uc001nvm.2	Q6RFH5		ENST00000525239.1:c.622C>T	11.37:g.62601996G>A	ENSP00000432119:p.Arg208Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	Missense_Mutation	SNP	ENST00000525239.1	37	CCDS44630.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.950333	0.53186	.	.	ENSG00000133316	ENST00000311713;ENST00000529106;ENST00000525239;ENST00000278856;ENST00000525752	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	3.95	3.02	0.34903	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.202885	0.38837	N	0.001555	T	0.52419	0.1733	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.66497	0.944;0.919;0.944	T	0.55611	-0.8114	10	0.87932	D	0	-0.5544	8.9454	0.35756	0.0:0.0:0.5992:0.4008	.	151;208;208	E9PS41;Q6RFH5;Q6RFH5-2	.;WDR74_HUMAN;.	C	208;208;208;208;151	ENSP00000308931:R208C;ENSP00000435726:R208C;ENSP00000432119:R208C;ENSP00000278856:R208C;ENSP00000432113:R151C	ENSP00000278856:R208C	R	-	1	0	WDR74	62358572	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	3.834000	0.55798	0.835000	0.34877	0.313000	0.20887	CGT		0.572	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395678.1	NM_018093	
CCDC88B	283234	broad.mit.edu	37	11	64120286	64120286	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:64120286C>T	ENST00000356786.5	+	20	3471	c.3427C>T	c.(3427-3429)Cgc>Tgc	p.R1143C	CCDC88B_ENST00000359902.2_Missense_Mutation_p.R295C|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1143						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGAGCGTGAACGCCTGATGCA	0.682																																						.											0													24.0	28.0	26.0					11																	64120286		2199	4295	6494	SO:0001583	missense	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.3427C>T	11.37:g.64120286C>T	ENSP00000349238:p.Arg1143Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	c	18.03	3.532071	0.64972	.	.	ENSG00000168071	ENST00000377638;ENST00000356786;ENST00000359902	T;T	0.47869	1.82;0.83	3.95	2.94	0.34122	.	.	.	.	.	T	0.58278	0.2111	L	0.54323	1.7	0.46701	D	0.999169	D;D;D	0.89917	1.0;1.0;1.0	P;D;P	0.72625	0.869;0.978;0.869	T	0.58781	-0.7576	9	0.59425	D	0.04	.	8.2175	0.31521	0.2379:0.7621:0.0:0.0	.	1143;279;1143	B2RTU8;A6NC98-5;A6NC98	.;.;CC88B_HUMAN	C	1025;1143;295	ENSP00000349238:R1143C;ENSP00000352974:R295C	ENSP00000349238:R1143C	R	+	1	0	CCDC88B	63876862	1.000000	0.71417	0.940000	0.37924	0.920000	0.55202	0.994000	0.29693	2.196000	0.70406	0.462000	0.41574	CGC		0.682	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251	
ATG2A	23130	broad.mit.edu;bcgsc.ca	37	11	64665396	64665396	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:64665396C>T	ENST00000377264.3	-	35	5021	c.4909G>A	c.(4909-4911)Gaa>Aaa	p.E1637K	ATG2A_ENST00000421419.2_Missense_Mutation_p.E1639K	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1637					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TCTACGCCTTCGGCCTGCCCT	0.667																																						.											0													32.0	38.0	36.0					11																	64665396		2200	4296	6496	SO:0001583	missense	23130				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.4909G>A	11.37:g.64665396C>T	ENSP00000366475:p.Glu1637Lys	Somatic		WXS	Illumina HiSeq	Phase_I	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.23|10.23	1.293510|1.293510	0.23564|0.23564	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000421419;ENST00000377264|ENST00000418259	T;T|.	0.06608|.	3.28;3.28|.	4.38|4.38	0.0643|0.0643	0.14352|0.14352	.|.	0.464888|.	0.21212|.	N|.	0.078283|.	T|T	0.40145|0.40145	0.1105|0.1105	L|L	0.61387|0.61387	1.9|1.9	0.09310|0.09310	N|N	1|1	B;B|.	0.26577|.	0.095;0.153|.	B;B|.	0.20184|.	0.013;0.028|.	T|T	0.35201|0.35201	-0.9798|-0.9798	10|5	0.10636|.	T|.	0.68|.	.|.	3.6629|3.6629	0.08245|0.08245	0.0:0.4688:0.188:0.3431|0.0:0.4688:0.188:0.3431	.|.	1637;1639|.	Q2TAZ0;Q2TAZ0-3|.	ATG2A_HUMAN;.|.	K|Q	1639;1637|1440	ENSP00000410522:E1639K;ENSP00000366475:E1637K|.	ENSP00000366475:E1637K|.	E|R	-|-	1|2	0|0	ATG2A|ATG2A	64421972|64421972	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.005000|0.005000	0.04900|0.04900	0.353000|0.353000	0.20130|0.20130	-0.066000|-0.066000	0.12998|0.12998	0.561000|0.561000	0.74099|0.74099	GAA|CGA		0.667	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104	
TSGA10IP	254187	broad.mit.edu;ucsc.edu;mdanderson.org	37	11	65721060	65721060	+	RNA	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:65721060C>T	ENST00000532620.1	+	0	1405				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein									p.R362R(1)		endometrium(2)|kidney(3)|lung(9)	14						GGCCTGGGAGCGGCAGCGGCA	0.697																																						.											1	Substitution - coding silent(1)	lung(1)											40.0	46.0	44.0					11																	65721060		1619	3582	5201			254187			AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65721060C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q3SXZ9|Q3SY01|Q96M26	Missense_Mutation	SNP	ENST00000532620.1	37																																																																																					0.697	TSGA10IP-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000391373.2	NM_152762	
RIN1	9610	broad.mit.edu;mdanderson.org	37	11	66101541	66101541	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:66101541G>A	ENST00000311320.4	-	7	1566	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F	RIN1_ENST00000530056.1_Intron|RIN1_ENST00000424433.2_Silent_p.F375F|RIN1_ENST00000524804.1_5'Flank|RP11-867G23.12_ENST00000526655.1_RNA	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	480	Ras and 14-3-3 protein binding region.|VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						GGTGGGACCCGAAGGCTCCGG	0.731																																						.											0													7.0	7.0	7.0					11																	66101541		2115	4173	6288	SO:0001819	synonymous_variant	9610			L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.1440C>T	11.37:g.66101541G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O15010|Q00427|Q96CC8	Silent	SNP	ENST00000311320.4	37	CCDS31614.1																																																																																				0.731	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2	NM_004292	
CPT1A	1374	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	68530138	68530138	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:68530138T>C	ENST00000265641.5	-	15	1986	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	CPT1A_ENST00000537756.2_5'UTR|CPT1A_ENST00000539743.1_Missense_Mutation_p.E611G|CPT1A_ENST00000376618.2_Missense_Mutation_p.E611G|CPT1A_ENST00000540367.1_Missense_Mutation_p.E611G	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	611					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GTCGCATGACTCAGTGGTGCA	0.597																																						.											0													78.0	68.0	71.0					11																	68530138		2200	4294	6494	SO:0001583	missense	1374			L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1832A>G	11.37:g.68530138T>C	ENSP00000265641:p.Glu611Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	T	15.71	2.912559	0.52439	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	5.57	5.57	0.84162	.	0.051436	0.85682	D	0.000000	D	0.95341	0.8488	H	0.97983	4.12	0.80722	D	1	B;B	0.29671	0.254;0.214	B;B	0.37346	0.247;0.238	D	0.95305	0.8407	10	0.87932	D	0	.	16.0252	0.80538	0.0:0.0:0.0:1.0	.	611;611	P50416;P50416-2	CPT1A_HUMAN;.	G	611	ENSP00000439084:E611G;ENSP00000365803:E611G;ENSP00000265641:E611G;ENSP00000446108:E611G	ENSP00000265641:E611G	E	-	2	0	CPT1A	68286714	1.000000	0.71417	0.997000	0.53966	0.041000	0.13682	7.562000	0.82300	2.246000	0.74042	0.533000	0.62120	GAG		0.597	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876	
ARRB1	408	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	74988453	74988453	+	Missense_Mutation	SNP	C	C	T	rs370469526		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:74988453C>T	ENST00000420843.2	-	9	755	c.658G>A	c.(658-660)Gtc>Atc	p.V220I	ARRB1_ENST00000393505.4_Missense_Mutation_p.V220I|ARRB1_ENST00000360025.3_Missense_Mutation_p.V220I	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	220					activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						TTGTTGGTGACGTGGACGTTG	0.547													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19587	0.0		0.0	False		,,,				2504	0.0					.											0								C	ILE/VAL,ILE/VAL	0,4400		0,0,2200	333.0	267.0	290.0		658,658	5.1	1.0	11		290	1,8585	1.2+/-3.3	0,1,4292	no	missense,missense	ARRB1	NM_004041.4,NM_020251.3	29,29	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	220/419,220/411	74988453	1,12985	2200	4293	6493	SO:0001583	missense	408			BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"""arrestin 2"""	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.658G>A	11.37:g.74988453C>T	ENSP00000409581:p.Val220Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Missense_Mutation	SNP	ENST00000420843.2	37	CCDS44684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.98|10.98	1.504591|1.504591	0.26949|0.26949	0.0|0.0	1.16E-4|1.16E-4	ENSG00000137486|ENSG00000137486	ENST00000532447|ENST00000420843;ENST00000393505;ENST00000360025;ENST00000532525	.|T;T;T;T	.|0.14516	.|2.5;2.5;2.5;2.5	5.14|5.14	5.14|5.14	0.70334|0.70334	.|Immunoglobulin E-set (1);Arrestin, C-terminal (1);Arrestin-like, C-terminal (1);	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.07954|0.07954	0.0199|0.0199	N|N	0.17594|0.17594	0.5|0.5	0.80722|0.80722	D|D	1|1	.|B;B	.|0.33266	.|0.029;0.404	.|B;B	.|0.26864	.|0.024;0.074	T|T	0.23583|0.23583	-1.0184|-1.0184	5|10	.|0.08837	.|T	.|0.75	-24.7659|-24.7659	16.0992|16.0992	0.81158|0.81158	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|220;220	.|P49407-2;P49407	.|.;ARRB1_HUMAN	H|I	44|220;220;220;215	.|ENSP00000409581:V220I;ENSP00000377141:V220I;ENSP00000353124:V220I;ENSP00000433171:V215I	.|ENSP00000353124:V220I	R|V	-|-	2|1	0|0	ARRB1|ARRB1	74666101|74666101	0.987000|0.987000	0.35691|0.35691	0.984000|0.984000	0.44739|0.44739	0.963000|0.963000	0.63663|0.63663	2.756000|2.756000	0.47549|0.47549	2.371000|2.371000	0.80710|0.80710	0.561000|0.561000	0.74099|0.74099	CGT|GTC		0.547	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041	
TSKU	25987	broad.mit.edu;mdanderson.org	37	11	76506753	76506753	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:76506753C>T	ENST00000527881.1	+	2	1119	c.93C>T	c.(91-93)ttC>ttT	p.F31F	TSKU_ENST00000333090.4_Silent_p.F31F			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	31	LRRNT.				anterior commissure morphogenesis (GO:0021960)|ciliary body morphogenesis (GO:0061073)|corpus callosum morphogenesis (GO:0021540)|lateral ventricle development (GO:0021670)|negative regulation of Wnt signaling pathway (GO:0030178)|regulation of gene expression (GO:0010468)	extracellular space (GO:0005615)				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					TGGAGACCTTCGGCCTTTTCG	0.672																																						.											0													67.0	62.0	64.0					11																	76506753		2200	4292	6492	SO:0001819	synonymous_variant	25987			AK075476	CCDS8246.1	11q13.5	2012-12-05	2012-12-05	2006-11-21	ENSG00000182704	ENSG00000182704			28850	protein-coding gene	gene with protein product		608015	"""leucine rich repeat containing 54"", ""tsukushin"", ""tsukushi small leucine rich proteoglycan homolog (Xenopus laevis)"""	LRRC54		11085516, 19710929, 22880013	Standard	NM_001258210		Approved	E2IG4, TSK	uc031qcw.1	Q8WUA8		ENST00000527881.1:c.93C>T	11.37:g.76506753C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B3KQT7|Q6UXK1|Q9UG10|Q9UJX9	Silent	SNP	ENST00000527881.1	37	CCDS8246.1																																																																																				0.672	TSKU-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382871.1	NM_015516	
BIRC3	330	broad.mit.edu	37	11	102201825	102201825	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:102201825A>G	ENST00000263464.3	+	6	3927	c.1177A>G	c.(1177-1179)Agc>Ggc	p.S393G	BIRC3_ENST00000532808.1_Missense_Mutation_p.S393G	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	393					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		CTTTAGTAGAAGCCTGGTAAA	0.383			T	MALT1	MALT																																	.		Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	0													101.0	103.0	103.0					11																	102201825		2203	4299	6502	SO:0001583	missense	330			L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	591	protein-coding gene	gene with protein product	"""apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1"""	601721	"""baculoviral IAP repeat-containing 3"""	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.1177A>G	11.37:g.102201825A>G	ENSP00000263464:p.Ser393Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	37	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	A	6.750	0.507284	0.12883	.	.	ENSG00000023445	ENST00000263464;ENST00000532808	T;T	0.21932	1.98;1.98	5.19	2.78	0.32641	.	0.645884	0.18860	N	0.129165	T	0.24084	0.0583	M	0.74258	2.255	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31194	-0.9952	10	0.14252	T	0.57	.	13.8423	0.63446	0.5406:0.4594:0.0:0.0	.	393	Q13489	BIRC3_HUMAN	G	393	ENSP00000263464:S393G;ENSP00000432907:S393G	ENSP00000263464:S393G	S	+	1	0	BIRC3	101707035	0.928000	0.31464	0.067000	0.19924	0.634000	0.38068	2.135000	0.42112	0.398000	0.25338	0.402000	0.26972	AGC		0.383	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165	
MMP1	4312	broad.mit.edu;bcgsc.ca	37	11	102667418	102667418	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:102667418T>C	ENST00000315274.6	-	4	669	c.602A>G	c.(601-603)gAa>gGa	p.E201G	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	201	Metalloprotease.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	GGTCCACCTTTCATCTTCATC	0.428																																						.											0													137.0	119.0	125.0					11																	102667418		2203	4299	6502	SO:0001583	missense	4312			X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.602A>G	11.37:g.102667418T>C	ENSP00000322788:p.Glu201Gly	Somatic		WXS	Illumina HiSeq	Phase_I	P08156	Missense_Mutation	SNP	ENST00000315274.6	37	CCDS8322.1	.	.	.	.	.	.	.	.	.	.	t	24.5	4.542761	0.85917	.	.	ENSG00000196611	ENST00000315274	T	0.32272	1.46	5.87	5.87	0.94306	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.083275	0.51477	D	0.000087	T	0.67804	0.2932	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77778	-0.2460	10	0.87932	D	0	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	201	P03956	MMP1_HUMAN	G	201	ENSP00000322788:E201G	ENSP00000322788:E201G	E	-	2	0	MMP1	102172628	1.000000	0.71417	0.855000	0.33649	0.694000	0.40290	7.655000	0.83696	2.371000	0.80710	0.533000	0.62120	GAA		0.428	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421	
MMP12	4321	broad.mit.edu;ucsc.edu;mdanderson.org	37	11	102738681	102738681	+	RNA	SNP	G	G	A	rs183458117		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:102738681G>A	ENST00000532855.1	-	0	840							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	GCAGAGAGGCGAAATGTGTTG	0.418													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21284	0.0		0.0	False		,,,				2504	0.0					.											0													81.0	79.0	80.0					11																	102738681		1918	4125	6043			4321			L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738681G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2R9X8|B7ZLF6|Q2M1L9	Missense_Mutation	SNP	ENST00000532855.1	37																																																																																					0.418	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426	
C11orf71	54494	broad.mit.edu	37	11	114262382	114262382	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:114262382T>C	ENST00000325636.4	-	2	434	c.349A>G	c.(349-351)Acc>Gcc	p.T117A		NM_019021.3	NP_061894.2	Q6IPW1	CK071_HUMAN	chromosome 11 open reading frame 71	0										large_intestine(3)|lung(1)	4		all_cancers(61;1.15e-11)|all_epithelial(67;5.3e-06)|all_hematologic(158;0.000303)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.6e-06)|Epithelial(105;4.31e-05)|all cancers(92;0.00036)		agggtccaggtagtaactaaa	0.358																																						.											0													68.0	64.0	65.0					11																	114262382		692	1591	2283	SO:0001583	missense	54494			BC071695	CCDS8369.2	11q23.2	2012-08-09			ENSG00000180425	ENSG00000180425			25937	protein-coding gene	gene with protein product						12477932	Standard	NM_001271562		Approved	FLJ20010	uc001pot.2	Q6IPW1	OTTHUMG00000168247	ENST00000325636.4:c.349A>G	11.37:g.114262382T>C	ENSP00000325508:p.Thr117Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IAD3|Q9NXX1	Missense_Mutation	SNP	ENST00000325636.4	37	CCDS8369.2	.	.	.	.	.	.	.	.	.	.	T	8.947	0.967299	0.18659	.	.	ENSG00000180425	ENST00000325636	.	.	.	1.61	-1.44	0.08856	.	.	.	.	.	T	0.25975	0.0633	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19386	-1.0307	7	0.45353	T	0.12	0.035	4.8719	0.13637	0.0:0.6068:0.0:0.3932	.	117	Q6IPW1-2	.	A	117	.	ENSP00000325508:T117A	T	-	1	0	C11orf71	113767592	0.016000	0.18221	0.027000	0.17364	0.105000	0.19272	0.071000	0.14594	-0.306000	0.08818	0.372000	0.22366	ACC		0.358	C11orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398959.1	NM_019021	
CEP164	22897	broad.mit.edu	37	11	117262985	117262985	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:117262985G>A	ENST00000278935.3	+	18	2474	c.2327G>A	c.(2326-2328)cGg>cAg	p.R776Q	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	776	Glu-rich.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GAGCTGGAGCGGCTCTGCTCC	0.597																																						.											0													51.0	47.0	48.0					11																	117262985		2201	4296	6497	SO:0001583	missense	22897			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.2327G>A	11.37:g.117262985G>A	ENSP00000278935:p.Arg776Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	9.955	1.221185	0.22457	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.41400	1.0	4.56	-2.63	0.06133	.	0.705996	0.12139	N	0.496071	T	0.19406	0.0466	N	0.12746	0.255	0.20074	N	0.999936	B;B;B;B	0.27117	0.047;0.168;0.078;0.078	B;B;B;B	0.20384	0.013;0.029;0.016;0.016	T	0.14559	-1.0468	10	0.27082	T	0.32	-4.898	7.9665	0.30102	0.6098:0.1213:0.2689:0.0	.	750;550;776;779	E9PI34;Q9NTH6;Q9UPV0;Q9UPV0-2	.;.;CE164_HUMAN;.	Q	776;750;657	ENSP00000278935:R776Q	ENSP00000278935:R776Q	R	+	2	0	CEP164	116768195	0.023000	0.18921	0.071000	0.20095	0.417000	0.31264	-0.959000	0.03853	-0.842000	0.04195	-0.339000	0.08088	CGG		0.597	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956	
KCNJ5	3762	broad.mit.edu;ucsc.edu;mdanderson.org	37	11	128781258	128781258	+	Silent	SNP	C	C	T	rs201886526		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:128781258C>T	ENST00000338350.4	+	3	442	c.90C>T	c.(88-90)cgC>cgT	p.R30R	KCNJ5_ENST00000533599.1_Silent_p.R30R|KCNJ5_ENST00000529694.1_Silent_p.R30R			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	30					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	AACAGGCCCGCGATTATGTCC	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		19312	0.0		0.0	False		,,,				2504	0.001				Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	.											0													78.0	80.0	80.0					11																	128781258		2201	4297	6498	SO:0001819	synonymous_variant	3762			D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.90C>T	11.37:g.128781258C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2R744|Q6DK13|Q6DK14|Q92807	Silent	SNP	ENST00000338350.4	37	CCDS8479.1																																																																																				0.582	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890	
IGSF9B	22997	broad.mit.edu;mdanderson.org	37	11	133800913	133800913	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:133800913C>T	ENST00000321016.8	-	11	1715	c.1485G>A	c.(1483-1485)acG>acA	p.T495T	IGSF9B_ENST00000533871.2_Silent_p.T495T			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	495	Ig-like 5.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CAGTGATGCTCGTGACCACGT	0.682																																						.											0													66.0	75.0	72.0					11																	133800913		2199	4294	6493	SO:0001819	synonymous_variant	22997			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1485G>A	11.37:g.133800913C>T		Somatic		WXS	Illumina HiSeq	Phase_I	G5EA26	Silent	SNP	ENST00000321016.8	37																																																																																					0.682	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502	
PLEKHG6	55200	broad.mit.edu;bcgsc.ca	37	12	6435610	6435610	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:6435610T>C	ENST00000396988.3	+	14	1771	c.1541T>C	c.(1540-1542)cTg>cCg	p.L514P	PLEKHG6_ENST00000449001.2_Missense_Mutation_p.L482P|PLEKHG6_ENST00000304581.8_Missense_Mutation_p.L44P|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.L514P	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	514						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CTACAGAAGCTGAAGGCAGAG	0.557																																						.											0													54.0	53.0	54.0					12																	6435610		2203	4300	6503	SO:0001583	missense	55200			AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.1541T>C	12.37:g.6435610T>C	ENSP00000380185:p.Leu514Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	37	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.840501	0.71488	.	.	ENSG00000008323	ENST00000011684;ENST00000396988;ENST00000449001;ENST00000304581	T;T;T	0.69306	-0.26;-0.26;-0.39	5.21	5.21	0.72293	Pleckstrin homology-type (1);	0.000000	0.40064	N	0.001191	T	0.70552	0.3237	L	0.36672	1.1	0.53688	D	0.999976	D;D	0.61697	0.99;0.984	P;P	0.61201	0.885;0.819	T	0.73626	-0.3923	10	0.87932	D	0	-12.4017	11.4464	0.50125	0.0:0.0:0.0:1.0	.	482;514	Q3KR16-2;Q3KR16	.;PKHG6_HUMAN	P	514;514;482;44	ENSP00000011684:L514P;ENSP00000380185:L514P;ENSP00000393194:L482P	ENSP00000011684:L514P	L	+	2	0	PLEKHG6	6305871	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	3.432000	0.52824	2.195000	0.70347	0.529000	0.55759	CTG		0.557	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173	
C1R	715	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	7188165	7188165	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:7188165C>T	ENST00000542285.1	-	11	1782	c.1633G>A	c.(1633-1635)Ggg>Agg	p.G545R				P00736	C1R_HUMAN	complement component 1, r subcomponent	597	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					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)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCCATGACCCCGAAGCCACTG	0.552																																						.											0													49.0	50.0	49.0					12																	7188165		2064	4200	6264	SO:0001583	missense	715			M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"""Complement system"""	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.1633G>A	12.37:g.7188165C>T	ENSP00000438615:p.Gly545Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A6NJQ8|Q68D77|Q8J012	Missense_Mutation	SNP	ENST00000542285.1	37		.	.	.	.	.	.	.	.	.	.	C	23.6	4.438853	0.83885	.	.	ENSG00000159403	ENST00000290575;ENST00000542285	D	0.94000	-3.33	5.7	5.7	0.88788	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000001	D	0.97071	0.9043	.	.	.	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.97261	0.9904	9	0.87932	D	0	.	19.8479	0.96722	0.0:1.0:0.0:0.0	.	597	P00736	C1R_HUMAN	R	560;545	ENSP00000438615:G545R	ENSP00000290575:G560R	G	-	1	0	C1R	7058420	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.510000	0.67018	2.681000	0.91329	0.655000	0.94253	GGG		0.552	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001733	
DDX12P	440081	broad.mit.edu	37	12	9578189	9578189	+	IGR	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:9578189G>A								RP13-735L24.1 (27976 upstream) : SNORA75 (19464 downstream)																							GTCTGCAGGGGCTGCAAGAGC	0.622																																						.											0													14.0	25.0	22.0					12																	9578189		692	1591	2283	SO:0001628	intergenic_variant	440081																															12.37:g.9578189G>A		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP		37																																																																																				0	0.622								
LRRK2	120892	broad.mit.edu	37	12	40689347	40689347	+	Silent	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:40689347C>A	ENST00000298910.7	+	23	3055	c.2997C>A	c.(2995-2997)gcC>gcA	p.A999A	LRRK2_ENST00000343742.2_Silent_p.A999A	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	999					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATATTGATGCCCTAAGCCAGA	0.418																																						.											0													83.0	77.0	79.0					12																	40689347		2203	4300	6503	SO:0001819	synonymous_variant	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2997C>A	12.37:g.40689347C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	CCDS31774.1																																																																																				0.418	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
TMEM117	84216	broad.mit.edu	37	12	44238507	44238507	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:44238507T>C	ENST00000266534.3	+	2	180	c.53T>C	c.(52-54)gTg>gCg	p.V18A	TMEM117_ENST00000551577.1_Missense_Mutation_p.V18A|TMEM117_ENST00000536799.1_5'Flank	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	18						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CGCATGATTGTGGCTTACTTG	0.388																																						.											0													191.0	191.0	191.0					12																	44238507		2203	4300	6503	SO:0001583	missense	84216			BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.53T>C	12.37:g.44238507T>C	ENSP00000266534:p.Val18Ala	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000266534.3	37	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.059810	0.76074	.	.	ENSG00000139173	ENST00000551577;ENST00000266534	T;T	0.56275	0.47;0.47	5.72	5.72	0.89469	.	0.058546	0.64402	D	0.000002	T	0.48660	0.1512	L	0.43152	1.355	0.80722	D	1	P;P	0.39181	0.525;0.663	B;B	0.37731	0.188;0.257	T	0.53493	-0.8431	10	0.66056	D	0.02	-20.8088	16.2962	0.82776	0.0:0.0:0.0:1.0	.	18;18	F8VS00;Q9H0C3	.;TM117_HUMAN	A	18	ENSP00000448595:V18A;ENSP00000266534:V18A	ENSP00000266534:V18A	V	+	2	0	TMEM117	42524774	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.951000	0.87819	2.304000	0.77564	0.528000	0.53228	GTG		0.388	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256	
HDAC7	51564	broad.mit.edu;ucsc.edu;mdanderson.org	37	12	48185382	48185382	+	Silent	SNP	G	G	A	rs138164422		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:48185382G>A	ENST00000427332.2	-	15	1959	c.1803C>T	c.(1801-1803)aaC>aaT	p.N601N	HDAC7_ENST00000488927.1_5'UTR|HDAC7_ENST00000380610.4_Silent_p.N657N|HDAC7_ENST00000552960.1_Silent_p.N623N|HDAC7_ENST00000080059.7_Silent_p.N640N|HDAC7_ENST00000354334.3_Silent_p.N603N			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	601	Histone deacetylase.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CCAGCTTCCCGTTGTCCAGTT	0.652																																						.											0								G	,	1,4405	2.1+/-5.4	0,1,2202	34.0	35.0	35.0		1809,1920	1.3	1.0	12	dbSNP_134	35	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HDAC7	NM_001098416.2,NM_015401.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	603/955,640/992	48185382	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51564			AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.1803C>T	12.37:g.48185382G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Silent	SNP	ENST00000427332.2	37		.	.	.	.	.	.	.	.	.	.	G	9.279	1.047755	0.19827	2.27E-4	0.0	ENSG00000061273	ENST00000548080	.	.	.	5.23	1.32	0.21799	.	.	.	.	.	T	0.57932	0.2087	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51795	-0.8660	4	.	.	.	.	9.6755	0.40039	0.3745:0.0:0.6255:0.0	.	.	.	.	M	81	.	.	T	-	2	0	HDAC7	46471649	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	0.288000	0.18939	0.324000	0.23333	0.558000	0.71614	ACG		0.652	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2		
TMPRSS12	283471	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	51252617	51252617	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:51252617C>T	ENST00000398458.3	+	3	465	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	TMPRSS12_ENST00000551456.1_Missense_Mutation_p.R145C	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	145	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						TATACATGGACGCTATCCTCA	0.279																																						.											0													33.0	31.0	31.0					12																	51252617		1815	4071	5886	SO:0001583	missense	283471			BC048112	CCDS44881.1	12q13.12	2014-08-12	2010-04-21		ENSG00000186452	ENSG00000186452		"""Serine peptidases / Transmembrane"""	28779	protein-coding gene	gene with protein product			"""transmembrane protease, serine 12"""				Standard	NM_182559		Approved	MGC57341, CT151	uc001rwx.4	Q86WS5	OTTHUMG00000169483	ENST00000398458.3:c.433C>T	12.37:g.51252617C>T	ENSP00000381476:p.Arg145Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B9ZVX2	Missense_Mutation	SNP	ENST00000398458.3	37	CCDS44881.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.903861	0.33628	.	.	ENSG00000186452	ENST00000551456;ENST00000398458	D;T	0.89343	-2.5;0.29	5.75	-11.5	0.00074	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.367380	0.01447	N	0.015346	D	0.83751	0.5322	L	0.55481	1.735	0.09310	N	1	D;P	0.60160	0.987;0.876	B;B	0.38500	0.275;0.054	T	0.77547	-0.2547	10	0.38643	T	0.18	4.4334	16.6272	0.84974	0.184:0.7002:0.1158:0.0	.	145;145	F8WBX2;Q86WS5	.;TMPSC_HUMAN	C	145	ENSP00000447259:R145C;ENSP00000381476:R145C	ENSP00000381476:R145C	R	+	1	0	TMPRSS12	49538884	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.762000	0.04745	-1.833000	0.01195	-1.120000	0.02017	CGC		0.279	TMPRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404289.1	NM_182559	
NR4A1	3164	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	52449897	52449897	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:52449897G>A	ENST00000243050.1	+	4	1274	c.960G>A	c.(958-960)caG>caA	p.Q320Q	NR4A1_ENST00000360284.3_Silent_p.Q333Q|RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000394824.2_Silent_p.Q320Q|NR4A1_ENST00000394825.1_Silent_p.Q320Q|NR4A1_ENST00000550082.1_Silent_p.Q333Q|NR4A1_ENST00000545748.1_Silent_p.Q374Q	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	320					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		ACCGCTGCCAGTTCTGCCGCT	0.637																																						.											0													80.0	77.0	78.0					12																	52449897		2203	4300	6503	SO:0001819	synonymous_variant	3164			L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"""Nuclear hormone receptors"""	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.960G>A	12.37:g.52449897G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DML7|Q15627|Q53Y00|Q6IBU8	Silent	SNP	ENST00000243050.1	37	CCDS8818.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.008969	0.54361	.	.	ENSG00000123358	ENST00000550763	T	0.48201	0.82	4.27	3.38	0.38709	.	.	.	.	.	T	0.58694	0.2140	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63301	-0.6668	6	0.72032	D	0.01	.	11.7719	0.51965	0.0893:0.0:0.9107:0.0	.	.	.	.	N	136	ENSP00000449858:S136N	ENSP00000449858:S136N	S	+	2	0	NR4A1	50736164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.709000	0.47160	1.396000	0.46663	0.561000	0.74099	AGT		0.637	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2		
ESPL1	9700	broad.mit.edu;ucsc.edu;mdanderson.org	37	12	53685530	53685530	+	Silent	SNP	C	C	T	rs527909578		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:53685530C>T	ENST00000257934.4	+	26	5668	c.5577C>T	c.(5575-5577)taC>taT	p.Y1859Y	ESPL1_ENST00000552462.1_Silent_p.Y1859Y	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1859					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCCTGGCCTACGGGCTGTGCC	0.582													c|||	1	0.000199681	0.0	0.0	5008	,	,		19231	0.0		0.0	False		,,,				2504	0.001				Colon(53;1069 1201 2587 5382)	.											0													139.0	137.0	138.0					12																	53685530		2203	4300	6503	SO:0001819	synonymous_variant	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5577C>T	12.37:g.53685530C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000257934.4	37	CCDS8852.1																																																																																				0.582	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291	
CPSF6	11052	broad.mit.edu;ucsc.edu	37	12	69656278	69656278	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:69656278G>A	ENST00000435070.2	+	9	1705	c.1595G>A	c.(1594-1596)cGg>cAg	p.R532Q	CPSF6_ENST00000266679.8_Missense_Mutation_p.R569Q|CPSF6_ENST00000551516.1_Missense_Mutation_p.G35R|CPSF6_ENST00000456847.3_Missense_Mutation_p.R459Q	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	532	Arg-rich.|Sufficient for nuclear targeting.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GAGAGGCACCGGGATcgtgac	0.493																																						.											0													197.0	143.0	161.0					12																	69656278		2203	4300	6503	SO:0001583	missense	11052			X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1595G>A	12.37:g.69656278G>A	ENSP00000391774:p.Arg532Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	CCDS8988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.6|25.6	4.650795|4.650795	0.87958|0.87958	.|.	.|.	ENSG00000111605|ENSG00000111605	ENST00000551516|ENST00000435070;ENST00000456847;ENST00000266679	.|T;T;T	.|0.73681	.|-0.77;-0.77;-0.77	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76300|0.76300	0.3968|0.3968	M|M	0.74467|0.74467	2.265|2.265	0.40144|0.40144	D|D	0.976867|0.976867	.|P;D;D	.|0.56968	.|0.78;0.978;0.962	.|B;B;B	.|0.41412	.|0.022;0.356;0.194	T|T	0.79001|0.79001	-0.1981|-0.1981	5|9	.|.	.|.	.|.	-6.2025|-6.2025	19.9178|19.9178	0.97067|0.97067	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|281;569;532	.|B4DSU9;Q16630-2;Q16630	.|.;.;CPSF6_HUMAN	R|Q	35|532;459;569	.|ENSP00000391774:R532Q;ENSP00000391437:R459Q;ENSP00000266679:R569Q	.|.	G|R	+|+	1|2	0|0	CPSF6|CPSF6	67942545|67942545	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	9.869000|9.869000	0.99810|0.99810	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	GGG|CGG		0.493	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007	
PARPBP	55010	broad.mit.edu	37	12	102590010	102590010	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:102590010A>G	ENST00000358383.5	+	11	1726	c.1681A>G	c.(1681-1683)Act>Gct	p.T561A	PARPBP_ENST00000327680.2_Missense_Mutation_p.T480A|PARPBP_ENST00000541394.1_Missense_Mutation_p.T638A|PARPBP_ENST00000392911.2_Missense_Mutation_p.T480A|PARPBP_ENST00000543784.1_3'UTR|PARPBP_ENST00000378128.3_3'UTR|PARPBP_ENST00000535811.1_3'UTR			Q9NWS1	PARI_HUMAN	PARP1 binding protein	561					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						TAATAAATGTACTGCCAAGGA	0.318																																						.											0													67.0	69.0	69.0					12																	102590010		2203	4299	6502	SO:0001583	missense	55010			AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.1681A>G	12.37:g.102590010A>G	ENSP00000351153:p.Thr561Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Missense_Mutation	SNP	ENST00000358383.5	37	CCDS9090.2	.	.	.	.	.	.	.	.	.	.	A	6.222	0.409187	0.11812	.	.	ENSG00000185480	ENST00000327680;ENST00000541394;ENST00000358383;ENST00000392911	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	4.82	-0.464	0.12160	.	0.814911	0.11696	N	0.538409	T	0.23289	0.0563	L	0.43923	1.385	0.09310	N	1	B;B;B	0.17667	0.023;0.002;0.001	B;B;B	0.17433	0.018;0.006;0.004	T	0.29731	-1.0002	10	0.05833	T	0.94	-1.1585	0.7572	0.01000	0.3411:0.1255:0.293:0.2404	.	638;276;561	B4DZ31;Q9NWS1-5;Q9NWS1	.;.;PR1BP_HUMAN	A	480;638;561;480	ENSP00000332915:T480A;ENSP00000440850:T638A;ENSP00000351153:T561A;ENSP00000376643:T480A	ENSP00000332915:T480A	T	+	1	0	C12orf48	101114140	0.000000	0.05858	0.002000	0.10522	0.049000	0.14656	-0.250000	0.08830	-0.013000	0.14199	0.533000	0.62120	ACT		0.318	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2	NM_017915	
RFX4	5992	broad.mit.edu	37	12	107105260	107105260	+	Missense_Mutation	SNP	C	C	T	rs76703390	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:107105260C>T	ENST00000392842.1	+	10	1378	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W	RFX4_ENST00000357881.4_Missense_Mutation_p.R331W|RFX4_ENST00000229387.5_Missense_Mutation_p.R228W|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	322	Necessary for dimerization.				cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						AATTCTGAGACGGCAAACATC	0.408													C|||	3	0.000599042	0.0008	0.0	5008	,	,		19023	0.0		0.001	False		,,,				2504	0.001					.											0								C	TRP/ARG,TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	151.0	132.0	139.0		991,682,964	4.6	1.0	12	dbSNP_132	139	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense	RFX4	NM_001206691.1,NM_032491.5,NM_213594.2	101,101,101	0,6,6497	TT,TC,CC		0.0465,0.0454,0.0461	probably-damaging,probably-damaging,probably-damaging	331/745,228/642,322/736	107105260	6,13000	2203	4300	6503	SO:0001583	missense	5992			AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.964C>T	12.37:g.107105260C>T	ENSP00000376585:p.Arg322Trp	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	CCDS9106.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	20.9	4.064115	0.76187	4.54E-4	4.65E-4	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000229387	T;T;T	0.50813	0.73;0.73;0.73	5.46	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.70360	0.3215	M	0.85859	2.78	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.79108	0.917;0.992;0.992;0.973	T	0.75599	-0.3262	10	0.87932	D	0	-18.033	12.8063	0.57616	0.4362:0.5638:0.0:0.0	.	228;331;331;322	B2RDW4;Q33E94-2;Q33E94-4;Q33E94	.;.;.;RFX4_HUMAN	W	322;331;331;228	ENSP00000376585:R322W;ENSP00000350552:R331W;ENSP00000229387:R228W	ENSP00000229387:R228W	R	+	1	2	RFX4	105629390	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.116000	0.41930	1.254000	0.44035	0.655000	0.94253	CGG		0.408	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491	
TAOK3	51347	broad.mit.edu;ucsc.edu;mdanderson.org	37	12	118588925	118588925	+	Silent	SNP	G	G	A	rs539247810	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:118588925G>A	ENST00000392533.3	-	21	3064	c.2574C>T	c.(2572-2574)agC>agT	p.S858S	TAOK3_ENST00000543709.1_5'UTR|TAOK3_ENST00000537952.1_Silent_p.S398S|TAOK3_ENST00000536979.1_Silent_p.S53S|TAOK3_ENST00000419821.2_Silent_p.S858S	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	858					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTATTCTCTCGCTGCGTTCCT	0.458													G|||	8	0.00159744	0.0	0.0	5008	,	,		16400	0.0		0.0	False		,,,				2504	0.0082					.											0													125.0	126.0	125.0					12																	118588925		2203	4300	6503	SO:0001819	synonymous_variant	51347			AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.2574C>T	12.37:g.118588925G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Silent	SNP	ENST00000392533.3	37	CCDS9188.1																																																																																				0.458	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281	
CIT	11113	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	120150093	120150093	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:120150093T>C	ENST00000261833.7	-	36	4670	c.4618A>G	c.(4618-4620)Acc>Gcc	p.T1540A	CIT_ENST00000537607.1_5'UTR|MIR1178_ENST00000408396.1_RNA|CIT_ENST00000392521.2_Missense_Mutation_p.T1582A	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1540	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		AAGTAGAGGGTTCTCCCGGGC	0.532																																						.											0													199.0	207.0	204.0					12																	120150093		2203	4300	6503	SO:0001583	missense	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.4618A>G	12.37:g.120150093T>C	ENSP00000261833:p.Thr1540Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.221702	0.39300	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.65916	-0.15;-0.18	5.64	4.45	0.53987	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.064498	0.64402	D	0.000006	T	0.54919	0.1888	L	0.47716	1.5	0.40248	D	0.978031	B;B;B	0.21905	0.005;0.062;0.001	B;B;B	0.19148	0.001;0.024;0.003	T	0.54302	-0.8314	10	0.66056	D	0.02	.	11.8488	0.52399	0.1312:0.0:0.0:0.8688	.	1582;1540;1058	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	A	1582;1540	ENSP00000376306:T1582A;ENSP00000261833:T1540A	ENSP00000261833:T1540A	T	-	1	0	CIT	118634476	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	2.035000	0.41155	0.908000	0.36671	0.533000	0.62120	ACC		0.532	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174	
GPR133	283383	broad.mit.edu;ucsc.edu;mdanderson.org	37	12	131466490	131466490	+	Silent	SNP	G	G	A	rs145796361	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:131466490G>A	ENST00000261654.5	+	5	931	c.372G>A	c.(370-372)gcG>gcA	p.A124A	GPR133_ENST00000535015.1_Silent_p.A156A	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	124					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A124A(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCCCTTCTGCGTATGGGGGAC	0.507													g|||	8	0.00159744	0.0008	0.0043	5008	,	,		18530	0.0		0.001	False		,,,				2504	0.0031					.											1	Substitution - coding silent(1)	ovary(1)								0,4406		0,0,2203	134.0	124.0	127.0		372	-7.9	0.0	12	dbSNP_134	127	3,8597	3.7+/-12.6	0,3,4297	yes	coding-synonymous	GPR133	NM_198827.3		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		124/875	131466490	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	283383			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.372G>A	12.37:g.131466490G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	CCDS9272.1																																																																																				0.507	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827	
EP400	57634	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	132474512	132474512	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:132474512G>A	ENST00000333577.4	+	9	2630	c.2521G>A	c.(2521-2523)Gtt>Att	p.V841I	EP400_ENST00000332482.4_Missense_Mutation_p.V768I|EP400_ENST00000389562.2_Missense_Mutation_p.V804I|EP400_ENST00000330386.6_Missense_Mutation_p.V805I|EP400_ENST00000389561.2_Missense_Mutation_p.V805I			Q96L91	EP400_HUMAN	E1A binding protein p400	841	HSA. {ECO:0000255|PROSITE- ProRule:PRU00549}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCACCAGCTCGTTAGAACTGT	0.448																																						.											0													50.0	48.0	49.0					12																	132474512		2203	4300	6503	SO:0001583	missense	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.2521G>A	12.37:g.132474512G>A	ENSP00000333602:p.Val841Ile	Somatic		WXS	Illumina HiSeq	Phase_I	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	G	11.18	1.562698	0.27915	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.91351	-2.83;-2.81;-2.81;-2.8;-2.81	5.05	4.16	0.48862	.	0.000000	0.85682	D	0.000000	D	0.88713	0.6511	M	0.77103	2.36	0.38212	D	0.940518	B;B;B;B;B	0.33826	0.104;0.061;0.104;0.038;0.427	B;B;B;B;B	0.25506	0.029;0.029;0.029;0.012;0.061	D	0.88106	0.2822	10	0.35671	T	0.21	.	13.9058	0.63834	0.0745:0.0:0.9255:0.0	.	805;805;804;841;768	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	I	768;841;805;804;768;805;841;805;805	ENSP00000333602:V841I;ENSP00000374212:V805I;ENSP00000374213:V804I;ENSP00000331737:V768I;ENSP00000330620:V805I	ENSP00000330620:V805I	V	+	1	0	EP400	131040465	1.000000	0.71417	0.285000	0.24819	0.212000	0.24457	5.177000	0.65032	1.259000	0.44117	0.561000	0.74099	GTT		0.448	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
SLC7A1	6541	broad.mit.edu;ucsc.edu	37	13	30088682	30088682	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:30088682C>T	ENST00000380752.5	-	13	2211	c.1825G>A	c.(1825-1827)Gag>Aag	p.E609K	SLC7A1_ENST00000473577.1_5'Flank	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	609					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)			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)	GACGCCTCCTCGCTGTGCCAC	0.667																																						.											0													53.0	42.0	46.0					13																	30088682		2203	4300	6503	SO:0001583	missense	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.1825G>A	13.37:g.30088682C>T	ENSP00000370128:p.Glu609Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JR50	Missense_Mutation	SNP	ENST00000380752.5	37	CCDS9333.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.366122	0.24684	.	.	ENSG00000139514	ENST00000380752	D	0.84873	-1.91	4.27	4.27	0.50696	.	0.457271	0.25520	N	0.030112	T	0.57814	0.2079	N	0.02765	-0.5	0.31206	N	0.699233	P	0.34909	0.475	B	0.23716	0.048	T	0.63033	-0.6727	10	0.05436	T	0.98	.	9.9362	0.41552	0.0:0.9063:0.0:0.0937	.	609	P30825	CTR1_HUMAN	K	609	ENSP00000370128:E609K	ENSP00000370128:E609K	E	-	1	0	SLC7A1	28986682	0.965000	0.33210	0.937000	0.37676	0.968000	0.65278	2.298000	0.43602	2.387000	0.81309	0.561000	0.74099	GAG		0.667	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045	
SPG20	23111	broad.mit.edu;ucsc.edu	37	13	36909383	36909383	+	Silent	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:36909383T>C	ENST00000451493.1	-	2	802	c.585A>G	c.(583-585)tcA>tcG	p.S195S	SPG20_ENST00000494062.2_Silent_p.S195S|SPG20_ENST00000355182.4_Silent_p.S195S|SPG20_ENST00000438666.2_Silent_p.S195S|SPG20_ENST00000495510.1_5'UTR	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	195					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CTCCAACTGATGAAAACTCCC	0.453																																						.											0													66.0	64.0	65.0					13																	36909383		2203	4300	6503	SO:0001819	synonymous_variant	23111			AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.585A>G	13.37:g.36909383T>C		Somatic		WXS	Illumina HiSeq	Phase_I	O60349|Q86Y67|Q9H1T2|Q9H1T3	Silent	SNP	ENST00000451493.1	37	CCDS9356.1																																																																																				0.453	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2		
OR4K13	390433	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	20502143	20502143	+	Missense_Mutation	SNP	C	C	T	rs199734457		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:20502143C>T	ENST00000315693.2	-	1	776	c.775G>A	c.(775-777)Gtc>Atc	p.V259I	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAGGGCCAGACGTAGATAAAG	0.403																																						.											0													91.0	83.0	86.0					14																	20502143		2203	4300	6503	SO:0001583	missense	390433				CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.775G>A	14.37:g.20502143C>T	ENSP00000319322:p.Val259Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	0.132	-1.112246	0.01799	.	.	ENSG00000176253	ENST00000315693	T	0.36699	1.24	3.46	1.51	0.23008	GPCR, rhodopsin-like superfamily (1);	0.230090	0.21786	U	0.069139	T	0.21631	0.0521	N	0.25060	0.705	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.16305	-1.0407	10	0.33940	T	0.23	.	8.2777	0.31881	0.177:0.6517:0.1713:0.0	.	259	Q8NH42	OR4KD_HUMAN	I	259	ENSP00000319322:V259I	ENSP00000319322:V259I	V	-	1	0	OR4K13	19571983	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-1.254000	0.02874	0.137000	0.18759	0.514000	0.50259	GTC		0.403	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1		
TTC5	91875	broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	20763923	20763923	+	Nonsense_Mutation	SNP	G	G	A	rs199831317		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:20763923G>A	ENST00000258821.3	-	7	843	c.787C>T	c.(787-789)Cga>Tga	p.R263*		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	263					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		TGTTGCTCTCGTTGCCGGGGC	0.483																																						.											0																																										SO:0001587	stop_gained	91875			BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"""Tetratricopeptide (TTC) repeat domain containing"""	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.787C>T	14.37:g.20763923G>A	ENSP00000258821:p.Arg263*	Somatic		WXS	Illumina HiSeq	Phase_I	A8MQ18|Q96HF9	Nonsense_Mutation	SNP	ENST00000258821.3	37	CCDS9546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.344399|5.344399	0.95807|0.95807	.|.	.|.	ENSG00000136319|ENSG00000136319	ENST00000258821|ENST00000423949	.|.	.|.	.|.	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	0.058488|.	0.64402|.	D|.	0.000003|.	.|T	.|0.55577	.|0.1929	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64296	.|-0.6441	.|3	0.07030|.	T|.	0.85|.	.|.	11.1516|11.1516	0.48462|0.48462	0.0:0.0:0.7045:0.2955|0.0:0.0:0.7045:0.2955	.|.	.|.	.|.	.|.	X|M	263|207	.|.	ENSP00000258821:R263X|.	R|T	-|-	1|2	2|0	TTC5|TTC5	19833763|19833763	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.997000|0.997000	0.91878|0.91878	2.883000|2.883000	0.48554|0.48554	2.459000|2.459000	0.83118|0.83118	0.655000|0.655000	0.94253|0.94253	CGA|ACG		0.483	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	NM_138376	
SLC7A8	23428	broad.mit.edu;mdanderson.org;bcgsc.ca	37	14	23596496	23596496	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:23596496G>A	ENST00000316902.7	-	11	2223	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W	SLC7A8_ENST00000422941.2_Missense_Mutation_p.R276W|SLC7A8_ENST00000453702.1_Missense_Mutation_p.R297W|SLC7A8_ENST00000529705.2_Missense_Mutation_p.R395W|SLC7A8_ENST00000469263.1_Missense_Mutation_p.A282V	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	500					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CCTGAGCCCCGCTCCACCTCG	0.592																																						.											0													197.0	149.0	165.0					14																	23596496		2203	4300	6503	SO:0001583	missense	23428			Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"""Solute carriers"""	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.1498C>T	14.37:g.23596496G>A	ENSP00000320378:p.Arg500Trp	Somatic		WXS	Illumina HiSeq	Phase_I	B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000316902.7	37	CCDS9590.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	13.09|13.09|13.09	2.131992|2.131992|2.131992	0.37630|0.37630|0.37630	.|.|.	.|.|.	ENSG00000092068|ENSG00000092068|ENSG00000092068	ENST00000206514|ENST00000469263|ENST00000316902;ENST00000453702;ENST00000529705;ENST00000422941	.|D|D;D;D;D	.|0.92249|0.90385	.|-3.0|-2.66;-2.18;-2.49;-2.16	3.88|3.88|3.88	0.298|0.298|0.298	0.15766|0.15766|0.15766	.|.|.	.|.|1.355130	.|.|0.04310	.|.|N	.|.|0.348721	.|T|T	.|0.81479|0.81479	.|0.4831|0.4831	N|N|N	0.08118|0.08118|0.08118	0|0|0	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B|D;P;P	.|0.13145|0.53312	.|0.007|0.959;0.927;0.587	.|B|B;B;B	.|0.08055|0.44163	.|0.003|0.443;0.113;0.023	.|T|T	.|0.73148|0.73148	.|-0.4074|-0.4074	.|9|10	.|0.87932|0.66056	.|D|D	.|0|0.02	.|.|.	4.4348|4.4348|4.4348	0.11545|0.11545|0.11545	0.0:0.399:0.3526:0.2484|0.0:0.399:0.3526:0.2484|0.0:0.399:0.3526:0.2484	.|.|.	.|282|395;276;500	.|E9PLV9|B4DKT4;B4DTV6;Q9UHI5	.|.|.;.;LAT2_HUMAN	.|V|W	-1|282|500;297;395;276	.|ENSP00000435114:A282V|ENSP00000320378:R500W;ENSP00000391577:R297W;ENSP00000434345:R395W;ENSP00000416398:R276W	.|ENSP00000435114:A282V|ENSP00000320378:R500W	.|A|R	-|-|-	.|2|1	.|0|2	SLC7A8|SLC7A8|SLC7A8	22666336|22666336|22666336	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.000000|0.000000|0.000000	0.03702|0.03702|0.03702	0.007000|0.007000|0.007000	0.05969|0.05969|0.05969	0.185000|0.185000|0.185000	0.16958|0.16958|0.16958	-0.297000|-0.297000|-0.297000	0.08934|0.08934|0.08934	-0.410000|-0.410000|-0.410000	0.06199|0.06199|0.06199	.|GCG|CGG		0.592	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3		
LRRC16B	90668	broad.mit.edu	37	14	24529235	24529235	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:24529235G>A	ENST00000342740.5	+	23	2079	c.1925G>A	c.(1924-1926)cGc>cAc	p.R642H	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	642						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CAAGCCTATCGCAGCGCGCCT	0.657																																						.											0													142.0	124.0	130.0					14																	24529235		2203	4300	6503	SO:0001583	missense	90668			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.1925G>A	14.37:g.24529235G>A	ENSP00000340467:p.Arg642His	Somatic		WXS	Illumina HiSeq	Phase_I	Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314513	0.60524	.	.	ENSG00000186648	ENST00000342740	T	0.50001	0.76	4.52	4.52	0.55395	.	0.067934	0.64402	D	0.000013	T	0.36963	0.0986	L	0.53249	1.67	0.80722	D	1	P	0.35011	0.48	B	0.23852	0.049	T	0.41752	-0.9491	10	0.72032	D	0.01	-2.2737	8.3812	0.32472	0.1048:0.0:0.8952:0.0	.	642	Q8ND23	LR16B_HUMAN	H	642	ENSP00000340467:R642H	ENSP00000340467:R642H	R	+	2	0	LRRC16B	23599075	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	5.311000	0.65786	2.331000	0.79229	0.561000	0.74099	CGC		0.657	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360	
PSME2	5721	broad.mit.edu	37	14	24615753	24615753	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:24615753G>A	ENST00000216802.5	-	1	677	c.38C>T	c.(37-39)gCc>gTc	p.A13V	PSME2_ENST00000560410.1_Missense_Mutation_p.A13V|RNF31_ENST00000559275.1_5'Flank|PSME2_ENST00000471700.2_5'UTR|RNF31_ENST00000382687.3_5'Flank|RNF31_ENST00000324103.6_5'Flank	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	13					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of 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 polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		CTGTTTGCGGGCTTCCCCGCT	0.627																																						.											0													72.0	70.0	71.0					14																	24615753		2203	4300	6503	SO:0001583	missense	5721				CCDS9614.1	14q11.2	2010-03-10			ENSG00000100911	ENSG00000100911		"""Proteasome (prosome, macropain) subunits"""	9569	protein-coding gene	gene with protein product		602161				7789512	Standard	NM_002818		Approved	PA28beta	uc001wmj.3	Q9UL46	OTTHUMG00000028797	ENST00000216802.5:c.38C>T	14.37:g.24615753G>A	ENSP00000216802:p.Ala13Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q15129	Missense_Mutation	SNP	ENST00000216802.5	37	CCDS9614.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392027	0.62066	.	.	ENSG00000100911	ENST00000216802	T	0.42900	0.96	5.22	5.22	0.72569	Proteasome activator pa28, REG alpha subunit (2);	0.421812	0.27004	N	0.021411	T	0.27832	0.0685	N	0.19112	0.55	0.34426	D	0.697993	B	0.06786	0.001	B	0.11329	0.006	T	0.25257	-1.0137	10	0.14656	T	0.56	-30.1892	14.1557	0.65417	0.0:0.0:1.0:0.0	.	13	Q9UL46	PSME2_HUMAN	V	13	ENSP00000216802:A13V	ENSP00000216802:A13V	A	-	2	0	PSME2	23685593	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	2.980000	0.49321	2.714000	0.92807	0.561000	0.74099	GCC		0.627	PSME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071918.3	NM_002818	
TSSK4	283629	broad.mit.edu;mdanderson.org;bcgsc.ca	37	14	24675808	24675808	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:24675808G>A	ENST00000287913.6	+	2	487	c.319G>A	c.(319-321)Ggt>Agt	p.G107S	TM9SF1_ENST00000556387.1_Intron|TSSK4_ENST00000428351.2_Intron|TM9SF1_ENST00000530611.1_Intron|TSSK4_ENST00000556621.1_Missense_Mutation_p.G31S|TSSK4_ENST00000339917.5_Missense_Mutation_p.G107S			Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	107	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|positive regulation of CREB transcription factor activity (GO:0032793)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		ACTGGCTCAGGGTGGTGATGT	0.547																																						.											0													151.0	128.0	136.0					14																	24675808		2203	4300	6503	SO:0001583	missense	283629			AF542390	CCDS9618.1, CCDS53890.1	14q11.2	2006-03-31	2005-03-10	2005-03-12	ENSG00000139908	ENSG00000139908			19825	protein-coding gene	gene with protein product	"""chromosome 14 open reading frame 20"""	610711	"""serine/threonine kinase 22E"""	C14orf20, STK22E			Standard	NM_174944		Approved		uc001wnh.3	Q6SA08	OTTHUMG00000029323	ENST00000287913.6:c.319G>A	14.37:g.24675808G>A	ENSP00000287913:p.Gly107Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q2TA60|Q6ZNM2	Missense_Mutation	SNP	ENST00000287913.6	37	CCDS9618.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.80|15.80	2.939586|2.939586	0.52972|0.52972	.|.	.|.	ENSG00000139908|ENSG00000139908	ENST00000555092|ENST00000339917;ENST00000556621;ENST00000287913	.|T;T;T	.|0.32988	.|1.43;1.43;1.43	4.97|4.97	4.97|4.97	0.65823|0.65823	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000|0.000000	0.52532|0.52532	D|D	0.000068|0.000068	T|T	0.40272|0.40272	0.1110|0.1110	M|M	0.71206|0.71206	2.165|2.165	0.80722|0.80722	D|D	1|1	.|P;P	.|0.37423	.|0.539;0.594	.|B;P	.|0.45167	.|0.341;0.472	T|T	0.23691|0.23691	-1.0181|-1.0181	6|10	.|0.45353	.|T	.|0.12	.|.	10.7571|10.7571	0.46243|0.46243	0.0:0.0:0.8106:0.1894|0.0:0.0:0.8106:0.1894	.|.	.|107;107	.|Q6SA08-2;Q6SA08	.|.;TSSK4_HUMAN	E|S	101|107;31;107	.|ENSP00000339179:G107S;ENSP00000452054:G31S;ENSP00000287913:G107S	.|ENSP00000287913:G107S	G|G	+|+	2|1	0|0	TSSK4|TSSK4	23745648|23745648	0.486000|0.486000	0.25980|0.25980	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	1.702000|1.702000	0.37836|0.37836	2.583000|2.583000	0.87209|0.87209	0.462000|0.462000	0.41574|0.41574	GGG|GGT		0.547	TSSK4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000073139.3	NM_174944	
TINF2	26277	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	24709841	24709841	+	Missense_Mutation	SNP	C	C	T	rs121918544		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:24709841C>T	ENST00000267415.7	-	6	1186	c.845G>A	c.(844-846)cGc>cAc	p.R282H	TINF2_ENST00000559019.1_3'UTR|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000538777.1_Missense_Mutation_p.R68H|TINF2_ENST00000540705.1_Missense_Mutation_p.R247H|TINF2_ENST00000558510.1_5'Flank|TINF2_ENST00000399423.4_Missense_Mutation_p.R282H	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	282			R -> H (in DKCA3 and DKCA5). {ECO:0000269|PubMed:18252230}.|R -> S (in DKCA3). {ECO:0000269|PubMed:18252230}.		negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of protein ADP-ribosylation (GO:0010836)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of telomere maintenance (GO:0032206)|protein localization to chromosome (GO:0034502)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinucleolar chromocenter (GO:0010370)	telomeric DNA binding (GO:0042162)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		GACTGTGGGGCGCTCCTTATG	0.552									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome																													.											0			GRCh37	CM080574	TINF2	M	rs121918544						72.0	69.0	70.0					14																	24709841		1959	4153	6112	SO:0001583	missense	26277	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder	AF195512	CCDS41936.1, CCDS41937.1	14q12	2008-07-29				ENSG00000092330			11824	protein-coding gene	gene with protein product		604319				10581025, 18252230	Standard	NM_012461		Approved	TIN2	uc001woa.4	Q9BSI4		ENST00000267415.7:c.845G>A	14.37:g.24709841C>T	ENSP00000267415:p.Arg282His	Somatic		WXS	Illumina HiSeq	Phase_I	B3W5Q7|Q9H904|Q9UHC2	Missense_Mutation	SNP	ENST00000267415.7	37	CCDS41936.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084034	0.55861	.	.	ENSG00000092330	ENST00000267415;ENST00000540705;ENST00000399423;ENST00000538777	D;D;D;D	0.94184	-2.97;-2.98;-2.96;-3.37	5.16	5.16	0.70880	.	0.338213	0.29002	N	0.013456	D	0.90830	0.7120	M	0.66939	2.045	0.41571	A	0.988685	P;P	0.41710	0.76;0.76	B;B	0.32533	0.147;0.147	D	0.94700	0.7882	9	0.87932	D	0	-14.2187	14.1675	0.65488	0.0:1.0:0.0:0.0	.	247;282	B4DFJ1;Q9BSI4	.;TINF2_HUMAN	H	282;247;282;68	ENSP00000267415:R282H;ENSP00000442154:R247H;ENSP00000382350:R282H;ENSP00000437495:R68H	ENSP00000267415:R282H	R	-	2	0	TINF2	23779681	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.482000	0.53186	2.404000	0.81709	0.462000	0.41574	CGC		0.552	TINF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415406.2		
HECTD1	25831	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	31609189	31609189	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:31609189G>A	ENST00000399332.1	-	19	3376	c.2888C>T	c.(2887-2889)gCg>gTg	p.A963V	HECTD1_ENST00000553700.1_Missense_Mutation_p.A963V|RNU6-541P_ENST00000384709.1_RNA	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	963					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A963_V971delALIRKLIAV(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TCGAATTAACGCAACTGCTGG	0.338																																						.											1	Deletion - In frame(1)	breast(1)											123.0	115.0	118.0					14																	31609189		1825	4090	5915	SO:0001583	missense	25831			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.2888C>T	14.37:g.31609189G>A	ENSP00000382269:p.Ala963Val	Somatic		WXS	Illumina HiSeq	Phase_I	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125292	0.37533	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.41400	1.0;1.0;1.5	5.89	5.01	0.66863	Armadillo-type fold (1);	0.000000	0.64402	U	0.000001	T	0.25082	0.0609	L	0.27053	0.805	0.80722	D	1	P;B	0.40250	0.709;0.008	B;B	0.30251	0.113;0.002	T	0.05666	-1.0871	10	0.11182	T	0.66	-13.4886	14.9607	0.71156	0.0681:0.0:0.9319:0.0	.	963;963	D3DS86;Q9ULT8	.;HECD1_HUMAN	V	963;965;963;437	ENSP00000450697:A963V;ENSP00000382269:A963V;ENSP00000451860:A437V	ENSP00000261312:A965V	A	-	2	0	HECTD1	30678940	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.738000	0.84966	1.506000	0.48736	0.655000	0.94253	GCG		0.338	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1		
GPR137C	283554	broad.mit.edu;mdanderson.org;bcgsc.ca	37	14	53100600	53100600	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:53100600G>A	ENST00000321662.6	+	6	1048	c.1048G>A	c.(1048-1050)Gac>Aac	p.D350N		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	350						integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					TTACTTTTTCGACAATCCAAG	0.393																																						.											0													121.0	115.0	117.0					14																	53100600		1896	4119	6015	SO:0001583	missense	283554			BX647179	CCDS45106.1	14q22.1	2012-08-10				ENSG00000180998			25445	protein-coding gene	gene with protein product							Standard	NM_001099652		Approved	DKFZp762F0713, TM7SF1L2	uc001wzu.4	Q8N3F9		ENST00000321662.6:c.1048G>A	14.37:g.53100600G>A	ENSP00000315106:p.Asp350Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q86SM2	Missense_Mutation	SNP	ENST00000321662.6	37	CCDS45106.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.280854|5.280854	0.95489|0.95489	.|.	.|.	ENSG00000180998|ENSG00000180998	ENST00000321662|ENST00000542169	T|.	0.60797|.	0.16|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72028|0.72028	0.3410|0.3410	L|L	0.53561|0.53561	1.675|1.675	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	T|T	0.67476|0.67476	-0.5661|-0.5661	10|5	0.45353|.	T|.	0.12|.	-19.2591|-19.2591	19.8667|19.8667	0.96806|0.96806	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	350;179|.	Q8N3F9;B3KW22|.	G137C_HUMAN;.|.	N|Q	350|319	ENSP00000315106:D350N|.	ENSP00000315106:D350N|.	D|R	+|+	1|2	0|0	GPR137C|GPR137C	52170350|52170350	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.988000|0.988000	0.76386|0.76386	9.174000|9.174000	0.94824|0.94824	2.773000|2.773000	0.95371|0.95371	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.393	GPR137C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411685.1	XM_290615	
SYT16	83851	broad.mit.edu;bcgsc.ca	37	14	62463128	62463128	+	Missense_Mutation	SNP	C	C	T	rs533386682		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:62463128C>T	ENST00000430451.2	+	1	588	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	SYT16_ENST00000446982.2_Missense_Mutation_p.R131C	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	131			R -> L (in dbSNP:rs17099370). {ECO:0000269|PubMed:15238157}.		exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CAGTGATGACCGCAAGTTACC	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		20897	0.0		0.0	False		,,,				2504	0.001					.											0													131.0	122.0	125.0					14																	62463128		1905	4122	6027	SO:0001583	missense	83851			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.391C>T	14.37:g.62463128C>T	ENSP00000394700:p.Arg131Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	C	4.550	0.102148	0.08731	.	.	ENSG00000139973	ENST00000446982;ENST00000430451	T;T	0.32272	1.46;3.72	5.45	4.54	0.55810	.	0.450724	0.18822	N	0.130228	T	0.13329	0.0323	N	0.08118	0	0.09310	N	1	P;P	0.41978	0.61;0.767	B;B	0.36885	0.235;0.183	T	0.05716	-1.0868	10	0.38643	T	0.18	-9.7901	5.7569	0.18178	0.1541:0.6415:0.1314:0.0729	.	131;131	B4DZH2;Q17RD7	.;SYT16_HUMAN	C	131	ENSP00000388023:R131C;ENSP00000394700:R131C	ENSP00000394700:R131C	R	+	1	0	SYT16	61532881	0.002000	0.14202	0.264000	0.24511	0.256000	0.26092	0.467000	0.22035	1.455000	0.47813	0.655000	0.94253	CGC		0.502	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914	
NEK9	91754	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	75555313	75555313	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:75555313G>T	ENST00000238616.5	-	20	2632	c.2474C>A	c.(2473-2475)cCt>cAt	p.P825H		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	825	Interaction with NEK6.|Pro/Ser/Thr-rich.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TGGGCTGTCAGGCATGGGGAT	0.448											OREG0022811	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													103.0	94.0	97.0					14																	75555313		2203	4300	6503	SO:0001583	missense	91754			AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.2474C>A	14.37:g.75555313G>T	ENSP00000238616:p.Pro825His	Somatic	1161	WXS	Illumina HiSeq	Phase_I	Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Missense_Mutation	SNP	ENST00000238616.5	37	CCDS9839.1	.	.	.	.	.	.	.	.	.	.	G	31	5.071923	0.93950	.	.	ENSG00000119638	ENST00000238616	T	0.74632	-0.86	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.80592	0.4652	N	0.24115	0.695	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.76575	0.956;0.988	T	0.81745	-0.0792	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	825;168	Q8TD19;Q6PKF2	NEK9_HUMAN;.	H	825	ENSP00000238616:P825H	ENSP00000238616:P825H	P	-	2	0	NEK9	74625066	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.490000	0.97952	2.941000	0.99782	0.655000	0.94253	CCT		0.448	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116	
GPR65	8477	broad.mit.edu;mdanderson.org;bcgsc.ca	37	14	88477823	88477823	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:88477823G>A	ENST00000267549.3	+	2	1190	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	211					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CAAGCTGTGCGGCACAATAAA	0.423																																						.											0													58.0	57.0	57.0					14																	88477823		2203	4300	6503	SO:0001583	missense	8477			U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.632G>A	14.37:g.88477823G>A	ENSP00000267549:p.Arg211Gln	Somatic		WXS	Illumina HiSeq	Phase_I	O75819	Missense_Mutation	SNP	ENST00000267549.3	37	CCDS9879.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.731479	0.30684	.	.	ENSG00000140030	ENST00000267549	T	0.42131	0.98	5.96	-8.89	0.00785	GPCR, rhodopsin-like superfamily (1);	1.610560	0.03651	N	0.240992	T	0.24928	0.0605	N	0.21282	0.65	0.09310	N	1	B	0.27316	0.175	B	0.23275	0.045	T	0.09662	-1.0664	10	0.20519	T	0.43	.	12.3078	0.54912	0.6519:0.0:0.2666:0.0815	.	211	Q8IYL9	PSYR_HUMAN	Q	211	ENSP00000267549:R211Q	ENSP00000267549:R211Q	R	+	2	0	GPR65	87547576	0.000000	0.05858	0.007000	0.13788	0.684000	0.39900	-1.016000	0.03633	-1.274000	0.02421	-0.133000	0.14855	CGG		0.423	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4		
KCNK10	54207	broad.mit.edu;mdanderson.org	37	14	88652027	88652027	+	Missense_Mutation	SNP	G	G	A	rs370557951		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:88652027G>A	ENST00000340700.5	-	7	1920	c.1469C>T	c.(1468-1470)aCg>aTg	p.T490M	KCNK10_ENST00000319231.5_Missense_Mutation_p.T495M|KCNK10_ENST00000312350.5_Missense_Mutation_p.T495M	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	490					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CATCTTTTCCGTCTCCTCCTC	0.502																																						.											0								G	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	166.0	161.0	163.0		1469,1484,1484	3.6	0.2	14		163	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	KCNK10	NM_021161.4,NM_138317.2,NM_138318.2	81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	490/539,495/544,495/544	88652027	1,13005	2203	4300	6503	SO:0001583	missense	54207			AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.1469C>T	14.37:g.88652027G>A	ENSP00000343104:p.Thr490Met	Somatic		WXS	Illumina HiSeq	Phase_I	B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022338	0.35701	0.0	1.16E-4	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	D;D;D	0.91180	-2.79;-2.8;-2.78	5.5	3.62	0.41486	.	1.171940	0.05778	N	0.608048	D	0.82370	0.5022	N	0.22421	0.69	0.09310	N	1	B;B;B	0.33904	0.431;0.431;0.431	B;B;B	0.24269	0.031;0.021;0.052	T	0.72747	-0.4200	10	0.72032	D	0.01	.	4.8714	0.13635	0.0817:0.1471:0.6189:0.1523	.	490;495;495	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	M	490;495;495	ENSP00000343104:T490M;ENSP00000310568:T495M;ENSP00000312811:T495M	ENSP00000310568:T495M	T	-	2	0	KCNK10	87721780	0.070000	0.21116	0.171000	0.22900	0.939000	0.58152	1.814000	0.38972	0.650000	0.30769	0.655000	0.94253	ACG		0.502	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161	
PTPN21	11099	broad.mit.edu;ucsc.edu;mdanderson.org	37	14	88945933	88945933	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:88945933C>T	ENST00000556564.1	-	13	2126	c.1842G>A	c.(1840-1842)gcG>gcA	p.A614A	PTPN21_ENST00000328736.3_Silent_p.A614A	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	614					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCAGCGAGTGCGCCACGGGCA	0.687																																						.											0													19.0	19.0	19.0					14																	88945933		2200	4293	6493	SO:0001819	synonymous_variant	11099			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1842G>A	14.37:g.88945933C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000556564.1	37	CCDS9884.1																																																																																				0.687	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1		
FOXN3	1112	broad.mit.edu	37	14	89817014	89817014	+	Splice_Site	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:89817014A>G	ENST00000345097.4	-	3	797		c.e3+1		RP11-356K23.1_ENST00000556942.1_RNA|FOXN3_ENST00000557258.1_Splice_Site|FOXN3_ENST00000261302.5_Splice_Site|RP11-356K23.1_ENST00000555407.1_RNA|FOXN3_ENST00000555658.1_Splice_Site|FOXN3_ENST00000555353.1_Splice_Site	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3						mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGAATTGCTTACCTTTGATAT	0.393																																						.											0													178.0	160.0	166.0					14																	89817014		2203	4300	6503	SO:0001630	splice_region_variant	1112				CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.680+1T>C	14.37:g.89817014A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q96II7|Q9UIE7	Splice_Site	SNP	ENST00000345097.4	37	CCDS41977.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.207484	0.79240	.	.	ENSG00000053254	ENST00000345097;ENST00000261302;ENST00000557258;ENST00000555353;ENST00000553840;ENST00000553353;ENST00000556916	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5763	0.84648	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FOXN3	88886767	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.019000	0.93662	2.317000	0.78254	0.459000	0.35465	.		0.393	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197	Intron
RPS6KA5	9252	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	91366523	91366523	+	Missense_Mutation	SNP	A	A	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:91366523A>C	ENST00000261991.3	-	11	1481	c.1308T>G	c.(1306-1308)agT>agG	p.S436R	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.S357R|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.S436R	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	436	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		AAATTGAAAAACTACCTTCTC	0.328																																						.											0													87.0	91.0	90.0					14																	91366523		2203	4299	6502	SO:0001583	missense	9252			AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.1308T>G	14.37:g.91366523A>C	ENSP00000261991:p.Ser436Arg	Somatic		WXS	Illumina HiSeq	Phase_I	O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	A	14.68	2.606994	0.46527	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.53423	0.62;0.62;0.62	5.81	0.863	0.19062	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.56441	0.1985	L	0.46567	1.45	0.58432	D	0.999999	D;D	0.76494	0.957;0.999	P;D	0.77557	0.775;0.99	T	0.53767	-0.8392	10	0.87932	D	0	.	9.5152	0.39102	0.736:0.0:0.264:0.0	.	436;436	O75582-2;O75582	.;KS6A5_HUMAN	R	436;357;436	ENSP00000261991:S436R;ENSP00000442803:S357R;ENSP00000402787:S436R	ENSP00000261991:S436R	S	-	3	2	RPS6KA5	90436276	1.000000	0.71417	0.985000	0.45067	0.116000	0.19942	2.924000	0.48876	-0.079000	0.12707	-0.250000	0.11733	AGT		0.328	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755	
ATG2B	55102	broad.mit.edu;mdanderson.org;bcgsc.ca	37	14	96772058	96772058	+	Missense_Mutation	SNP	G	G	A	rs138090571		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:96772058G>A	ENST00000359933.4	-	31	5494	c.4601C>T	c.(4600-4602)aCg>aTg	p.T1534M	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1534					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GGCTTTGCTCGTATCGGTCTT	0.403																																						.											0								G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	134.0	122.0	126.0		4601	1.4	0.0	14	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ATG2B	NM_018036.5	81	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	1534/2079	96772058	2,13004	2203	4300	6503	SO:0001583	missense	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.4601C>T	14.37:g.96772058G>A	ENSP00000353010:p.Thr1534Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535650	0.27475	2.27E-4	1.16E-4	ENSG00000066739	ENST00000359933	T	0.48201	0.82	5.55	1.43	0.22495	.	0.856800	0.10787	N	0.634158	T	0.48822	0.1521	L	0.57536	1.79	0.09310	N	1	D	0.59767	0.986	B	0.42386	0.386	T	0.50074	-0.8870	10	0.48119	T	0.1	.	17.9381	0.89019	0.0:0.515:0.485:0.0	.	1534	Q96BY7	ATG2B_HUMAN	M	1534	ENSP00000353010:T1534M	ENSP00000261834:T178M	T	-	2	0	ATG2B	95841811	0.053000	0.20554	0.000000	0.03702	0.082000	0.17680	2.208000	0.42797	-0.005000	0.14395	-0.189000	0.12847	ACG		0.403	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036	
PAPOLA	10914	broad.mit.edu	37	14	97014212	97014212	+	Missense_Mutation	SNP	T	T	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:97014212T>A	ENST00000216277.8	+	16	1698	c.1478T>A	c.(1477-1479)cTc>cAc	p.L493H	PAPOLA_ENST00000392990.2_Missense_Mutation_p.L493H	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	493					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AGAAAGCAACTCCATCAACTA	0.308																																					NSCLC(19;254 734 11908 35501 39234)	.											0													83.0	82.0	82.0					14																	97014212		2203	4298	6501	SO:0001583	missense	10914			X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.1478T>A	14.37:g.97014212T>A	ENSP00000216277:p.Leu493His	Somatic		WXS	Illumina HiSeq	Phase_I	Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	ENST00000216277.8	37	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.622974	0.87460	.	.	ENSG00000090060	ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626	.	.	.	5.54	5.54	0.83059	Poly(A) polymerase, RNA-binding domain (2);Nucleotidyltransferase, class I, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.80706	0.4674	M	0.83774	2.66	0.80722	D	1	D;D;D	0.69078	0.997;0.987;0.997	D;D;D	0.77557	0.983;0.99;0.99	D	0.83960	0.0321	9	0.87932	D	0	.	15.6775	0.77338	0.0:0.0:0.0:1.0	.	509;509;493	F5H5I8;B4DYF4;P51003	.;.;PAPOA_HUMAN	H	493;509;493;243	.	ENSP00000216277:L493H	L	+	2	0	PAPOLA	96083965	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.693000	0.84214	2.104000	0.64026	0.533000	0.62120	CTC		0.308	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2		
CKB	1152	broad.mit.edu;mdanderson.org	37	14	103988669	103988669	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:103988669G>A	ENST00000348956.2	-	2	519	c.162C>T	c.(160-162)gaC>gaT	p.D54D	RP11-600F24.7_ENST00000568177.1_RNA	NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	54	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GGATGACGTCGTCCAGCGTGA	0.726																																					Esophageal Squamous(186;2492 2823 49929 50127)	.											0													46.0	45.0	45.0					14																	103988669		2200	4298	6498	SO:0001819	synonymous_variant	1152				CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.162C>T	14.37:g.103988669G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Silent	SNP	ENST00000348956.2	37	CCDS9981.1																																																																																				0.726	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415111.1		
CYFIP1	23191	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	22999456	22999456	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:22999456C>T	ENST00000313077.7	+	29	3453	c.3328C>T	c.(3328-3330)Cgc>Tgc	p.R1110C	CYFIP1_ENST00000560848.1_Missense_Mutation_p.R1110C|CYFIP1_ENST00000435939.2_Missense_Mutation_p.R679C	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1									p.R1110C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CCCCATCTGGCGCGGGCCTCT	0.592																																						.											1	Substitution - Missense(1)	large_intestine(1)											59.0	59.0	59.0					15																	22999456		2203	4300	6503	SO:0001583	missense	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.3328C>T	15.37:g.22999456C>T	ENSP00000324549:p.Arg1110Cys	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000313077.7	37	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063093	0.93898	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	T;T	0.23754	1.89;1.89	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000002	T	0.31513	0.0799	N	0.17082	0.46	0.80722	D	1	B;D	0.63046	0.129;0.992	B;P	0.56088	0.022;0.791	T	0.05402	-1.0887	10	0.42905	T	0.14	-15.0561	19.4921	0.95054	0.0:1.0:0.0:0.0	.	679;1110	Q7L576-2;Q7L576	.;CYFP1_HUMAN	C	1110;1112;679	ENSP00000324549:R1110C;ENSP00000405956:R679C	ENSP00000324549:R1110C	R	+	1	0	CYFIP1	20550897	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.977000	0.70492	2.624000	0.88883	0.561000	0.74099	CGC		0.592	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608	
HERC2	8924	broad.mit.edu	37	15	28478879	28478879	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:28478879G>A	ENST00000261609.7	-	28	4390	c.4282C>T	c.(4282-4284)Ccc>Tcc	p.P1428S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.P1428S(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGCTCGGGGGGAAACATGATC	0.458																																						.											1	Substitution - Missense(1)	large_intestine(1)											53.0	51.0	51.0					15																	28478879		2203	4283	6486	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.4282C>T	15.37:g.28478879G>A	ENSP00000261609:p.Pro1428Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	g	9.301	1.053063	0.19907	.	.	ENSG00000128731	ENST00000261609	T	0.37915	1.17	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	L	0.40543	1.245	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.26780	-1.0093	10	0.13470	T	0.59	.	17.2162	0.86945	0.0:0.0:1.0:0.0	.	1428	O95714	HERC2_HUMAN	S	1428	ENSP00000261609:P1428S	ENSP00000261609:P1428S	P	-	1	0	HERC2	26152474	1.000000	0.71417	1.000000	0.80357	0.060000	0.15804	9.260000	0.95568	2.360000	0.80028	0.550000	0.68814	CCC		0.458	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
DPH6	89978	broad.mit.edu	37	15	35529895	35529895	+	Intron	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:35529895C>T	ENST00000560386.1	-	4	200				ANP32AP1_ENST00000560832.1_RNA			Q7L8W6	DPH6_HUMAN	diphthamine biosynthesis 6						peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		ATP binding (GO:0005524)|diphthine-ammonia ligase activity (GO:0017178)										TTTTCAATTGCGAGGTAACCA	0.448																																						.											0																																										SO:0001627	intron_variant	723972				CCDS10043.1, CCDS45213.1	15q14	2013-06-19	2013-06-19	2013-05-02	ENSG00000134146	ENSG00000134146	6.3.1.14		30543	protein-coding gene	gene with protein product	"""diphthine--ammonia ligase"""		"""ATP binding domain 4"", ""DPH6 homolog (S. cerevisiae)"""	ATPBD4		23169644, 23468660	Standard	NM_080650		Approved	MGC14798		Q7L8W6	OTTHUMG00000129759	ENST00000560386.1:c.3239-17112G>A	15.37:g.35529895C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B3KWG1|Q96HJ6	RNA	SNP	ENST00000560386.1	37																																																																																					0.448	DPH6-003	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000417824.1	NM_080650	
CASC5	57082	broad.mit.edu;mdanderson.org;bcgsc.ca	37	15	40916787	40916787	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:40916787A>G	ENST00000346991.5	+	11	4793	c.4403A>G	c.(4402-4404)cAg>cGg	p.Q1468R	CASC5_ENST00000399668.2_Missense_Mutation_p.Q1442R			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1468					acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GTTATTCCTCAGCCTCATTTC	0.353																																						.											0													89.0	85.0	86.0					15																	40916787		1851	4093	5944	SO:0001583	missense	57082			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.4403A>G	15.37:g.40916787A>G	ENSP00000335463:p.Gln1468Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	A	5.267	0.234746	0.09969	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.05717	3.4;3.4	4.6	2.17	0.27698	.	0.926357	0.08995	N	0.863806	T	0.11623	0.0283	M	0.61703	1.905	0.09310	N	1	P;P;D	0.54047	0.557;0.557;0.964	B;B;P	0.45829	0.299;0.299;0.494	T	0.26121	-1.0112	10	0.87932	D	0	.	10.278	0.43521	0.6807:0.3193:0.0:0.0	.	1442;1468;1442	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	R	1468;1442;1442	ENSP00000335463:Q1468R;ENSP00000382576:Q1442R	ENSP00000260369:Q1442R	Q	+	2	0	CASC5	38704079	0.080000	0.21391	0.512000	0.27736	0.026000	0.11368	1.336000	0.33850	0.324000	0.23333	0.491000	0.48974	CAG		0.353	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508	
RPAP1	26015	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	41814441	41814441	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:41814441G>A	ENST00000304330.4	-	20	2866	c.2750C>T	c.(2749-2751)gCc>gTc	p.A917V	RPAP1_ENST00000561603.1_Missense_Mutation_p.A917V	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	917	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGCCAATATGGCAGCCAGCTG	0.562																																						.											0													18.0	23.0	21.0					15																	41814441		2201	4297	6498	SO:0001583	missense	26015			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.2750C>T	15.37:g.41814441G>A	ENSP00000306123:p.Ala917Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	G	4.735	0.136744	0.09032	.	.	ENSG00000103932	ENST00000304330	T	0.11821	2.74	5.0	0.893	0.19236	.	0.969729	0.08589	N	0.923357	T	0.10252	0.0251	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.35549	-0.9784	10	0.46703	T	0.11	-9.0683	8.2846	0.31922	0.4263:0.0:0.5737:0.0	.	917	Q9BWH6	RPAP1_HUMAN	V	917	ENSP00000306123:A917V	ENSP00000306123:A917V	A	-	2	0	RPAP1	39601733	0.017000	0.18338	0.002000	0.10522	0.564000	0.35744	1.305000	0.33493	0.009000	0.14813	-0.391000	0.06502	GCC		0.562	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540	
TMEM87A	25963	broad.mit.edu	37	15	42564314	42564314	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:42564314delT	ENST00000389834.4	-	2	416	c.152delA	c.(151-153)aatfs	p.N51fs	TMEM87A_ENST00000307216.6_Frame_Shift_Del_p.N51fs|GANC_ENST00000318010.8_5'Flank|TMEM87A_ENST00000448392.1_Intron|TMEM87A_ENST00000568432.1_5'UTR|GANC_ENST00000566442.1_5'Flank|GANC_ENST00000440615.2_5'Flank	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	51						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		ACTAAAATAATTTTTCCCCTG	0.294																																						.											0													36.0	37.0	37.0					15																	42564314		2202	4296	6498	SO:0001589	frameshift_variant	25963			AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.152delA	15.37:g.42564314delT	ENSP00000374484:p.Asn51fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Frame_Shift_Del	DEL	ENST00000389834.4	37	CCDS32205.1																																																																																				0.294	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497	
GANC	2595	broad.mit.edu;mdanderson.org	37	15	42619597	42619597	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:42619597T>C	ENST00000318010.8	+	13	1697	c.1457T>C	c.(1456-1458)gTc>gCc	p.V486A		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	486					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	AATCCCAAGGTCAGAGAGTGG	0.423																																						.											0													291.0	254.0	267.0					15																	42619597		2203	4299	6502	SO:0001583	missense	2595			AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.1457T>C	15.37:g.42619597T>C	ENSP00000326227:p.Val486Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.281005	0.80692	.	.	ENSG00000214013	ENST00000318010	D	0.95035	-3.59	5.32	5.32	0.75619	Glycoside hydrolase, superfamily (1);	0.121554	0.56097	D	0.000027	D	0.90477	0.7017	N	0.17248	0.465	0.52099	D	0.999945	P	0.36616	0.561	B	0.42882	0.401	D	0.89515	0.3774	10	0.31617	T	0.26	-16.5794	13.884	0.63698	0.0:0.0:0.0:1.0	.	486	Q8TET4	GANC_HUMAN	A	486	ENSP00000326227:V486A	ENSP00000326227:V486A	V	+	2	0	GANC	40406889	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.305000	0.59110	2.013000	0.59113	0.528000	0.53228	GTC		0.423	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141	
TP53BP1	7158	broad.mit.edu	37	15	43773188	43773188	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:43773188G>A	ENST00000263801.3	-	5	641	c.389C>T	c.(388-390)gCt>gTt	p.A130V	TP53BP1_ENST00000382044.4_Missense_Mutation_p.A135V|TP53BP1_ENST00000382039.3_Missense_Mutation_p.A135V|TP53BP1_ENST00000450115.2_Missense_Mutation_p.A135V	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	130					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ttcctccACAGCAGGAGCAGA	0.453								Other conserved DNA damage response genes																														.											0													229.0	175.0	193.0					15																	43773188		2201	4298	6499	SO:0001583	missense	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.389C>T	15.37:g.43773188G>A	ENSP00000263801:p.Ala130Val	Somatic		WXS	Illumina HiSeq	Phase_I	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	9.638	1.138150	0.21123	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.09911	3.75;3.75;3.75;3.75;2.93	4.61	3.68	0.42216	.	1.743780	0.02818	N	0.125177	T	0.09555	0.0235	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.31024	-0.9958	10	0.24483	T	0.36	2.085	8.1265	0.31001	0.1171:0.0:0.8829:0.0	.	135;130;135;135	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	V	130;135;135;135;135	ENSP00000263801:A130V;ENSP00000371475:A135V;ENSP00000371470:A135V;ENSP00000393497:A135V;ENSP00000388028:A135V	ENSP00000263801:A130V	A	-	2	0	TP53BP1	41560480	0.025000	0.19082	0.020000	0.16555	0.831000	0.47069	1.588000	0.36633	1.054000	0.40438	0.467000	0.42956	GCT		0.453	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3		
DUOX2	50506	broad.mit.edu;mdanderson.org;bcgsc.ca	37	15	45396231	45396231	+	Missense_Mutation	SNP	G	G	A	rs201955961		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:45396231G>A	ENST00000603300.1	-	20	2783	c.2581C>T	c.(2581-2583)Cgt>Tgt	p.R861C	DUOX2_ENST00000389039.6_Missense_Mutation_p.R861C	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	861	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AACATTAGACGGGACTTATCC	0.507																																						.											0								G	CYS/ARG	0,4396		0,0,2198	120.0	108.0	112.0		2581	5.2	1.0	15		112	2,8594	2.2+/-6.3	0,2,4296	no	missense	DUOX2	NM_014080.4	180	0,2,6494	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	861/1549	45396231	2,12990	2198	4298	6496	SO:0001583	missense	50506			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.2581C>T	15.37:g.45396231G>A	ENSP00000475084:p.Arg861Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900727	0.72754	0.0	2.33E-4	ENSG00000140279	ENST00000389039	.	.	.	5.23	5.23	0.72850	EF-hand-like domain (1);	0.399295	0.26955	N	0.021659	T	0.82001	0.4942	H	0.94964	3.605	0.44611	D	0.997587	D;D	0.89917	1.0;1.0	D;D	0.67725	0.953;0.953	D	0.85455	0.1163	9	0.87932	D	0	-10.1059	9.4386	0.38655	0.0:0.1432:0.6886:0.1681	.	861;423	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	C	861	.	ENSP00000373691:R861C	R	-	1	0	DUOX2	43183523	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.975000	0.56859	2.579000	0.87056	0.563000	0.77884	CGT		0.507	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080	
FBN1	2200	broad.mit.edu;ucsc.edu;mdanderson.org	37	15	48755319	48755319	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:48755319C>T	ENST00000316623.5	-	42	5639	c.5184G>A	c.(5182-5184)gcG>gcA	p.A1728A		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1728	TB 7.		A -> T (in GPHYSD2 and ACMICD). {ECO:0000269|PubMed:21683322}.|A -> V (in GPHYSD2). {ECO:0000269|PubMed:21683322}.		extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCTTGTTCCACGCCCGGCCAA	0.423																																						.											0													119.0	120.0	120.0					15																	48755319		2198	4296	6494	SO:0001819	synonymous_variant	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.5184G>A	15.37:g.48755319C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	CCDS32232.1																																																																																				0.423	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
LMAN1L	79748	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	75108525	75108525	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:75108525G>A	ENST00000309664.5	+	2	342	c.203G>A	c.(202-204)cGg>cAg	p.R68Q	LMAN1L_ENST00000379709.3_Missense_Mutation_p.R68Q	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	68	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAGGAAGTGCGGCTGACGCCA	0.642																																						.											0													31.0	26.0	27.0					15																	75108525		2159	4232	6391	SO:0001583	missense	79748			AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.203G>A	15.37:g.75108525G>A	ENSP00000310431:p.Arg68Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q6UWN2	Missense_Mutation	SNP	ENST00000309664.5	37	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114969	0.94339	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.67171	-0.25;-0.25	5.35	5.35	0.76521	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.64402	D	0.000005	D	0.84520	0.5490	M	0.89715	3.055	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.87546	0.2462	10	0.87932	D	0	.	14.5567	0.68106	0.0:0.0:1.0:0.0	.	68;68	Q9HAT1-3;Q9HAT1	.;LMA1L_HUMAN	Q	68	ENSP00000310431:R68Q;ENSP00000369031:R68Q	ENSP00000310431:R68Q	R	+	2	0	LMAN1L	72895578	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	3.605000	0.54088	2.508000	0.84585	0.484000	0.47621	CGG		0.642	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4		
MESDC1	59274	broad.mit.edu;ucsc.edu;mdanderson.org	37	15	81295560	81295560	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:81295560C>T	ENST00000267984.2	+	1	2266	c.948C>T	c.(946-948)ggC>ggT	p.G316G		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	316										endometrium(1)|lung(2)	3						CCGACGGGGGCGCCAAGATGT	0.672																																						.											0													11.0	14.0	13.0					15																	81295560		2197	4294	6491	SO:0001819	synonymous_variant	59274			AY007810	CCDS10316.1	15q13	2008-07-18			ENSG00000140406	ENSG00000140406			13519	protein-coding gene	gene with protein product		615466				11247670	Standard	NM_022566		Approved	MGC99595	uc002bfz.3	Q9H1K6	OTTHUMG00000144185	ENST00000267984.2:c.948C>T	15.37:g.81295560C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000267984.2	37	CCDS10316.1																																																																																				0.672	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291390.1	NM_022566	
AGBL1	123624	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	86807816	86807816	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:86807816G>A	ENST00000441037.2	+	10	1371	c.1276G>A	c.(1276-1278)Gca>Aca	p.A426T	AGBL1_ENST00000389298.3_Missense_Mutation_p.A157T|AGBL1_ENST00000421325.2_Missense_Mutation_p.A426T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	426					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)			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						GGACGTAGATGCAATTTTCTG	0.443																																						.											0													102.0	103.0	103.0					15																	86807816		1884	4119	6003	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.1276G>A	15.37:g.86807816G>A	ENSP00000413001:p.Ala426Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.525621	0.27299	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.09817	2.94;2.94	5.44	0.615	0.17608	Armadillo-type fold (1);	1.706500	0.02572	N	0.097924	T	0.11965	0.0291	L	0.56769	1.78	0.09310	N	1	P;B;B	0.37276	0.589;0.053;0.004	B;B;B	0.33392	0.163;0.022;0.002	T	0.33007	-0.9885	10	0.25751	T	0.34	0.0701	6.5659	0.22511	0.5759:0.0:0.4241:0.0	.	125;157;426	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	T	455;426;157	ENSP00000397173:A426T;ENSP00000373949:A157T	ENSP00000373949:A157T	A	+	1	0	AGBL1	84608820	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	-0.445000	0.06845	0.286000	0.22352	0.650000	0.86243	GCA		0.443	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336	
OR4F15	390649	broad.mit.edu	37	15	102359272	102359272	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:102359272A>G	ENST00000332238.4	+	1	907	c.883A>G	c.(883-885)Aaa>Gaa	p.K295E		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CAAAGACATGAAAGTGGCAAT	0.383																																						.											0													67.0	58.0	61.0					15																	102359272		2203	4300	6503	SO:0001583	missense	390649			BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"""GPCR / Class A : Olfactory receptors"""	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.883A>G	15.37:g.102359272A>G	ENSP00000333184:p.Lys295Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNQ5|Q6IF57|Q96R70	Missense_Mutation	SNP	ENST00000332238.4	37	CCDS32342.1	.	.	.	.	.	.	.	.	.	.	.	13.80	2.344493	0.41498	.	.	ENSG00000182854	ENST00000332238	T	0.41065	1.01	5.46	4.32	0.51571	.	.	.	.	.	T	0.62245	0.2412	M	0.93016	3.37	0.29484	N	0.8561	P	0.45283	0.855	P	0.49597	0.616	T	0.66015	-0.6028	8	.	.	.	.	10.9232	0.47178	0.8426:0.1574:0.0:0.0	.	295	Q8NGB8	O4F15_HUMAN	E	295	ENSP00000333184:K295E	.	K	+	1	0	OR4F15	100176795	0.985000	0.35326	0.848000	0.33437	0.046000	0.14306	3.710000	0.54860	1.067000	0.40740	0.528000	0.53228	AAA		0.383	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417594.1	NM_001001674	
WASH3P	374666	broad.mit.edu	37	15	102516466	102516466	+	RNA	SNP	C	C	G	rs373564005		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:102516466C>G	ENST00000557932.1	+	0	1414				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.S463S(2)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						ACTGGGAATCCTAGGGGGCTC	0.642																																						.											2	Substitution - coding silent(2)	endometrium(2)																																										374666					15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516466C>G		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP	ENST00000557932.1	37																																																																																					0.642	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163	
TPSD1	23430	broad.mit.edu;ucsc.edu;mdanderson.org	37	16	1306310	1306311	+	Missense_Mutation	DNP	GC	GC	AT	rs201494832		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:1306310_1306311GC>AT	ENST00000211076.3	+	1	177_178	c.29_30GC>AT	c.(28-30)aGC>aAT	p.S10N	TPSD1_ENST00000397534.2_Missense_Mutation_p.S3N|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	10						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.S10I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				CAGATGCTGAGCCTGCTGCTGC	0.683																																						.											1	Substitution - Missense(1)	lung(1)																																								SO:0001583	missense	23430			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	Exception_encountered	16.37:g.1306310_1306311delinsAT	ENSP00000211076:p.Ser10Asn	Somatic		WXS	Illumina HiSeq	Phase_I	O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Silent	DNP	ENST00000211076.3	37	CCDS10432.1																																																																																				0.683	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2		
IFT140	9742	broad.mit.edu	37	16	1612076	1612076	+	Silent	SNP	G	G	A	rs375957506		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:1612076G>A	ENST00000426508.2	-	18	2472	c.2109C>T	c.(2107-2109)caC>caT	p.H703H	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	703					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GCAGGAAGCCGTGCTCTTCGG	0.463																																						.											0								G		1,4397	2.1+/-5.4	0,1,2198	70.0	71.0	71.0		2109	-9.5	0.4	16		71	0,8600		0,0,4300	no	coding-synonymous	IFT140	NM_014714.3		0,1,6498	AA,AG,GG		0.0,0.0227,0.0077		703/1463	1612076	1,12997	2199	4300	6499	SO:0001819	synonymous_variant	9742			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.2109C>T	16.37:g.1612076G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	CCDS10439.1																																																																																				0.463	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714	
RPL3L	6123	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	1991404	1991404	+	IGR	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:1991404C>T	ENST00000268661.7	-	0	2182				MSRB1_ENST00000361871.3_Missense_Mutation_p.V20I|MSRB1_ENST00000399753.2_Missense_Mutation_p.V20I|MSRB1_ENST00000489198.1_5'UTR|MSRB1_ENST00000564908.1_Missense_Mutation_p.V20I	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CACACGTAAACGCCTGTGGTG	0.592																																						.											0													30.0	33.0	32.0					16																	1991404		2092	4221	6313	SO:0001628	intergenic_variant	51734			U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"""L ribosomal proteins"""	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685		16.37:g.1991404C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000268661.7	37	CCDS10450.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.247097	0.22796	.	.	ENSG00000198736	ENST00000361871;ENST00000399753	T;T	0.75154	-0.91;-0.91	4.74	-6.66	0.01789	Mss4-like (1);Methionine sulphoxide reductase B (2);	0.829113	0.11048	N	0.605335	T	0.43166	0.1235	N	0.03891	-0.335	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.50171	-0.8859	10	0.02654	T	1	1.6117	15.1597	0.72775	0.0:0.2787:0.0:0.7213	.	20	Q9NZV6	MSRB1_HUMAN	I	20	ENSP00000355084:V20I;ENSP00000382657:V20I	ENSP00000355084:V20I	V	-	1	0	SEPX1	1931405	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.249000	0.08842	-1.211000	0.02624	-1.769000	0.00663	GTT		0.592	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061	
TBL3	10607	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	2026870	2026870	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:2026870C>T	ENST00000568546.1	+	14	1476	c.1348C>T	c.(1348-1350)Cct>Tct	p.P450S		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	450					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GAAGCTGTGGCCTCTTCCCAA	0.602																																					Melanoma(118;616 1651 35077 38081 48633)	.											0													103.0	83.0	90.0					16																	2026870		2198	4300	6498	SO:0001583	missense	10607			U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"""WD repeat domain containing"""	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.1348C>T	16.37:g.2026870C>T	ENSP00000454836:p.Pro450Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	ENST00000568546.1	37	CCDS10453.1	.	.	.	.	.	.	.	.	.	.	C	8.346	0.829811	0.16749	.	.	ENSG00000183751	ENST00000332704	.	.	.	5.27	4.3	0.51218	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.683346	0.15040	N	0.283918	T	0.14960	0.0361	N	0.01668	-0.77	0.35595	D	0.807376	B;P	0.36990	0.097;0.577	B;B	0.31442	0.048;0.13	T	0.14952	-1.0454	9	0.28530	T	0.3	-25.4819	8.6372	0.33955	0.2797:0.5848:0.1355:0.0	.	212;450	A0JLS5;Q12788	.;TBL3_HUMAN	S	450	.	ENSP00000331815:P450S	P	+	1	0	TBL3	1966871	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	1.635000	0.37134	1.186000	0.42985	0.561000	0.74099	CCT		0.602	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	NM_006453	
PPL	5493	broad.mit.edu;mdanderson.org	37	16	4940317	4940317	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:4940317G>A	ENST00000345988.2	-	18	2270	c.2181C>T	c.(2179-2181)agC>agT	p.S727S	PPL_ENST00000590782.2_Silent_p.S725S	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	727					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CTGCCTTGGCGCTCTGTAGGC	0.567																																						.											0													92.0	75.0	81.0					16																	4940317		2197	4300	6497	SO:0001819	synonymous_variant	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2181C>T	16.37:g.4940317G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	CCDS10526.1																																																																																				0.567	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705	
METTL22	79091	broad.mit.edu	37	16	8729031	8729031	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:8729031C>T	ENST00000381920.3	+	5	820	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	METTL22_ENST00000568967.1_3'UTR|METTL22_ENST00000561758.1_Missense_Mutation_p.R132W	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	188						nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			large_intestine(5)|lung(4)	9						CCAGGTGTGGCGGGGCGCCCT	0.647																																						.											0													74.0	77.0	76.0					16																	8729031		2107	4230	6337	SO:0001583	missense	79091			AK022495	CCDS10533.2	16p13.2	2014-07-15	2011-03-03	2011-03-03	ENSG00000067365	ENSG00000067365			28368	protein-coding gene	gene with protein product		615261	"""chromosome 16 open reading frame 68"""	C16orf68		24140279	Standard	XM_005255570		Approved	FLJ12433,MGC2654	uc002cyz.3	Q9BUU2	OTTHUMG00000129694	ENST00000381920.3:c.562C>T	16.37:g.8729031C>T	ENSP00000371345:p.Arg188Trp	Somatic		WXS	Illumina HiSeq	Phase_I	B2RD29|D3DUF2|Q6XYB4|Q9HA03	Missense_Mutation	SNP	ENST00000381920.3	37	CCDS10533.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.90|19.90	3.912727|3.912727	0.72983|0.72983	.|.	.|.	ENSG00000067365|ENSG00000067365	ENST00000163678|ENST00000381920	T|T	0.50813|0.06768	0.73|3.26	4.69|4.69	3.67|3.67	0.42095|0.42095	.|.	.|0.229248	.|0.35970	.|N	.|0.002876	T|T	0.30854|0.30854	0.0778|0.0778	M|M	0.85630|0.85630	2.765|2.765	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.80764	.|0.994	T|T	0.14896|0.14896	-1.0456|-1.0456	7|10	0.66056|0.72032	D|D	0.02|0.01	-20.7383|-20.7383	13.4424|13.4424	0.61121|0.61121	0.1564:0.8436:0.0:0.0|0.1564:0.8436:0.0:0.0	.|.	.|188	.|Q9BUU2	.|MET22_HUMAN	V|W	174|188	ENSP00000163678:A174V|ENSP00000371345:R188W	ENSP00000163678:A174V|ENSP00000371345:R188W	A|R	+|+	2|1	0|2	METTL22|METTL22	8636532|8636532	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	3.311000|3.311000	0.51919|0.51919	2.324000|2.324000	0.78689|0.78689	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.647	METTL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251901.1	NM_024109	
KIAA0430	9665	broad.mit.edu;ucsc.edu;mdanderson.org	37	16	15711251	15711251	+	Silent	SNP	G	G	A	rs533235779	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:15711251G>A	ENST00000396368.3	-	14	3068	c.2862C>T	c.(2860-2862)caC>caT	p.H954H	KIAA0430_ENST00000551742.1_Silent_p.H954H|KIAA0430_ENST00000540441.2_Silent_p.H789H|KIAA0430_ENST00000548025.1_Silent_p.H951H|KIAA0430_ENST00000602337.1_Silent_p.H951H|KIAA0430_ENST00000344181.3_Silent_p.H596H	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	954					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AGGAGCCGTCGTGTGACTGGG	0.537													G|||	2	0.000399361	0.0	0.0029	5008	,	,		15822	0.0		0.0	False		,,,				2504	0.0					.											0													55.0	57.0	56.0					16																	15711251		1877	4102	5979	SO:0001819	synonymous_variant	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.2862C>T	16.37:g.15711251G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Silent	SNP	ENST00000396368.3	37	CCDS10562.2																																																																																				0.537	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647	
SYT17	51760	broad.mit.edu;mdanderson.org	37	16	19236099	19236099	+	Silent	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:19236099T>C	ENST00000355377.2	+	7	1565	c.1167T>C	c.(1165-1167)aaT>aaC	p.N389N	SYT17_ENST00000562711.2_Silent_p.N385N|SYT17_ENST00000568433.1_Silent_p.N83N|SYT17_ENST00000562034.1_Silent_p.N328N|SYT17_ENST00000568115.1_Silent_p.N328N	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	389	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CTTTCTACAATGAATCCTTCA	0.448																																						.											0													126.0	124.0	125.0					16																	19236099		2197	4300	6497	SO:0001819	synonymous_variant	51760				CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"""Synaptotagmins"""	24119	protein-coding gene	gene with protein product	"""B/K protein"""					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.1167T>C	16.37:g.19236099T>C		Somatic		WXS	Illumina HiSeq	Phase_I	O43330|Q9NZ18	Silent	SNP	ENST00000355377.2	37	CCDS10575.1																																																																																				0.448	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524	
DNAH3	55567	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	20996802	20996802	+	Missense_Mutation	SNP	C	C	T	rs200916697		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:20996802C>T	ENST00000261383.3	-	48	7261	c.7262G>A	c.(7261-7263)cGt>cAt	p.R2421H	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2421	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTCAGGACACGGCAGATCCT	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		19647	0.001		0.0	False		,,,				2504	0.0					.											0													81.0	70.0	74.0					16																	20996802		2201	4300	6501	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7262G>A	16.37:g.20996802C>T	ENSP00000261383:p.Arg2421His	Somatic		WXS	Illumina HiSeq	Phase_I	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	29.4	4.999055	0.93227	.	.	ENSG00000158486	ENST00000261383	T	0.57273	0.41	5.43	5.43	0.79202	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.64402	D	0.000001	D	0.85699	0.5757	H	0.99454	4.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92110	0.5695	10	0.87932	D	0	.	19.2603	0.93966	0.0:1.0:0.0:0.0	.	2421	Q8TD57	DYH3_HUMAN	H	2421	ENSP00000261383:R2421H	ENSP00000261383:R2421H	R	-	2	0	DNAH3	20904303	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.783000	0.85696	2.554000	0.86153	0.655000	0.94253	CGT		0.552	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
CHP2	63928	broad.mit.edu	37	16	23767738	23767738	+	Missense_Mutation	SNP	G	G	A	rs79455352	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:23767738G>A	ENST00000300113.2	+	5	805	c.382G>A	c.(382-384)Gat>Aat	p.D128N		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	128	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to calcium ion (GO:0071277)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D128Y(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		CCTGGATCGCGATGGGAAGAT	0.537																																						.											1	Substitution - Missense(1)	stomach(1)											86.0	69.0	75.0					16																	23767738		2197	4300	6497	SO:0001583	missense	63928				CCDS10617.1	16p12.2	2013-01-11	2013-01-11		ENSG00000166869	ENSG00000166869		"""EF-hand domain containing"""	24927	protein-coding gene	gene with protein product						12226101	Standard	NM_022097		Approved		uc002dmb.1	O43745	OTTHUMG00000131611	ENST00000300113.2:c.382G>A	16.37:g.23767738G>A	ENSP00000300113:p.Asp128Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2I8	Missense_Mutation	SNP	ENST00000300113.2	37	CCDS10617.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211780	0.58452	.	.	ENSG00000166869	ENST00000300113	T	0.79352	-1.26	3.82	3.82	0.43975	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.68293	0.2985	N	0.21324	0.655	0.58432	D	0.999999	D	0.58268	0.982	P	0.46237	0.508	T	0.69529	-0.5121	10	0.36615	T	0.2	-17.3968	14.0131	0.64509	0.0:0.0:1.0:0.0	.	128	O43745	CHP2_HUMAN	N	128	ENSP00000300113:D128N	ENSP00000300113:D128N	D	+	1	0	AC130454.2	23675239	1.000000	0.71417	0.942000	0.38095	0.291000	0.27294	8.034000	0.88864	2.414000	0.81942	0.591000	0.81541	GAT		0.537	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254498.1	NM_022097	
ASPHD1	253982	broad.mit.edu	37	16	29917204	29917204	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:29917204G>A	ENST00000308748.5	+	3	1411	c.1159G>A	c.(1159-1161)Gcc>Acc	p.A387T	ASPHD1_ENST00000483405.1_Missense_Mutation_p.A106T	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	387					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)	dioxygenase activity (GO:0051213)			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						CTTTGTCTTCGCCCCAGACCC	0.632																																						.											0													49.0	42.0	45.0					16																	29917204		2197	4300	6497	SO:0001583	missense	253982			AF070642	CCDS10660.1	16p11.2	2008-02-05			ENSG00000174939	ENSG00000174939			27380	protein-coding gene	gene with protein product							Standard	NM_181718		Approved		uc002dut.3	Q5U4P2	OTTHUMG00000132121	ENST00000308748.5:c.1159G>A	16.37:g.29917204G>A	ENSP00000311447:p.Ala387Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A0AVE3|B7ZLZ3|Q8IW63|Q8N316|Q96H00	Missense_Mutation	SNP	ENST00000308748.5	37	CCDS10660.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441667	0.63067	.	.	ENSG00000174939	ENST00000414952;ENST00000308748	T;T	0.47177	0.85;0.85	5.76	3.81	0.43845	.	0.245036	0.35291	N	0.003313	T	0.24812	0.0602	N	0.05351	-0.065	0.80722	D	1	P	0.36587	0.559	B	0.29524	0.103	T	0.09335	-1.0679	10	0.52906	T	0.07	-4.2254	11.6302	0.51168	0.1466:0.0:0.8534:0.0	.	387	Q5U4P2	ASPH1_HUMAN	T	387	ENSP00000388036:A387T;ENSP00000311447:A387T	ENSP00000311447:A387T	A	+	1	0	ASPHD1	29824705	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.176000	0.50863	0.794000	0.33899	-0.140000	0.14226	GCC		0.632	ASPHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255163.2	NM_181718	
TBX6	6911	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	30097724	30097724	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:30097724C>T	ENST00000395224.2	-	9	1192	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H	TBX6_ENST00000279386.2_Missense_Mutation_p.R378H	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	378					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						GGGGGCTGAGCGCCCGGAGTC	0.697																																						.											0													6.0	8.0	8.0					16																	30097724		2104	4124	6228	SO:0001583	missense	6911			AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"""T-boxes"""	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.1133G>A	16.37:g.30097724C>T	ENSP00000378650:p.Arg378His	Somatic		WXS	Illumina HiSeq	Phase_I	Q8TAS4|Q9HA44	Missense_Mutation	SNP	ENST00000395224.2	37	CCDS10670.1	.	.	.	.	.	.	.	.	.	.	C	9.618	1.133005	0.21041	.	.	ENSG00000149922	ENST00000395224;ENST00000279386	D;D	0.87256	-2.23;-2.23	5.25	2.23	0.28157	.	1.998930	0.02243	N	0.065938	T	0.78966	0.4367	N	0.19112	0.55	0.27721	N	0.945124	B	0.06786	0.001	B	0.04013	0.001	T	0.63825	-0.6549	10	0.46703	T	0.11	.	4.3271	0.11045	0.1582:0.5904:0.0:0.2514	.	378	O95947	TBX6_HUMAN	H	378	ENSP00000378650:R378H;ENSP00000279386:R378H	ENSP00000279386:R378H	R	-	2	0	TBX6	30005225	0.898000	0.30612	0.980000	0.43619	0.289000	0.27227	0.761000	0.26489	0.231000	0.21079	-0.300000	0.09419	CGC		0.697	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2	NM_004608, NM_080758	
RNF40	9810	broad.mit.edu;mdanderson.org;bcgsc.ca	37	16	30777565	30777565	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:30777565G>A	ENST00000324685.6	+	9	1510	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	RNF40_ENST00000357890.5_Intron|RNF40_ENST00000563683.1_Intron|RNF40_ENST00000402121.3_Intron	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	359					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			ACTGCAGGCCGAACTTCAGGG	0.587																																						.											0													72.0	81.0	78.0					16																	30777565		2197	4300	6497	SO:0001583	missense	9810			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.1075G>A	16.37:g.30777565G>A	ENSP00000325677:p.Glu359Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.798379	0.90538	.	.	ENSG00000103549	ENST00000324685;ENST00000452273	T	0.27720	1.65	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.42854	0.1221	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.995;0.999	P;P	0.58520	0.738;0.84	T	0.06716	-1.0811	10	0.09843	T	0.71	-4.4002	18.8306	0.92137	0.0:0.0:1.0:0.0	.	359;359	A8K6K1;O75150	.;BRE1B_HUMAN	K	359;208	ENSP00000325677:E359K	ENSP00000325677:E359K	E	+	1	0	RNF40	30685066	1.000000	0.71417	0.921000	0.36526	0.956000	0.61745	8.988000	0.93501	2.747000	0.94245	0.462000	0.41574	GAA		0.587	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771	
SALL1	6299	broad.mit.edu	37	16	51173805	51173805	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:51173805C>T	ENST00000251020.4	-	2	2361	c.2328G>A	c.(2326-2328)acG>acA	p.T776T	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Silent_p.T679T|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	776					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T776T(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCACAGCGTTCGTGAACTTCT	0.557																																					GBM(103;1352 1446 1855 4775 8890)	.											1	Substitution - coding silent(1)	large_intestine(1)											90.0	93.0	92.0					16																	51173805		2198	4300	6498	SO:0001819	synonymous_variant	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2328G>A	16.37:g.51173805C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	CCDS10747.1																																																																																				0.557	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968	
SLC6A2	6530	broad.mit.edu;ucsc.edu;mdanderson.org	37	16	55690630	55690630	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:55690630G>A	ENST00000379906.2	+	1	279	c.24G>A	c.(22-24)ccG>ccA	p.P8P	SLC6A2_ENST00000414754.3_Silent_p.P8P|SLC6A2_ENST00000566163.1_Silent_p.P8P|SLC6A2_ENST00000561820.1_Silent_p.P8P|SLC6A2_ENST00000568943.1_Silent_p.P8P|SLC6A2_ENST00000219833.8_Silent_p.P8P	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	8					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GGATGAACCCGCAGGTGCAGC	0.652																																						.											0													28.0	32.0	31.0					16																	55690630		2196	4295	6491	SO:0001819	synonymous_variant	6530				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.24G>A	16.37:g.55690630G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2R707|B4DX48|Q96KH8	Silent	SNP	ENST00000379906.2	37	CCDS10754.1																																																																																				0.652	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2		
PDPR	55066	broad.mit.edu	37	16	70164360	70164360	+	Missense_Mutation	SNP	T	T	A	rs201953730		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:70164360T>A	ENST00000288050.4	+	7	1599	c.642T>A	c.(640-642)caT>caA	p.H214Q	PDPR_ENST00000398122.3_Missense_Mutation_p.H114Q|PDPR_ENST00000568530.1_Missense_Mutation_p.H214Q	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	214					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTGTTCTTCATGTAATGGTCA	0.448																																						.											0													147.0	148.0	147.0					16																	70164360		1917	4144	6061	SO:0001583	missense	55066				CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.642T>A	16.37:g.70164360T>A	ENSP00000288050:p.His214Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	CCDS45520.1	6	0.0027472527472527475	0	0.0	3	0.008287292817679558	0	0.0	3	0.00395778364116095	T	12.71	2.019723	0.35606	.	.	ENSG00000090857	ENST00000288050;ENST00000398122	D;D	0.84660	-1.88;-1.88	4.93	-2.98	0.05513	FAD dependent oxidoreductase (1);	0.054244	0.64402	D	0.000001	T	0.62575	0.2439	N	0.16790	0.44	0.80722	D	1	B	0.14438	0.01	B	0.18263	0.021	T	0.41484	-0.9506	10	0.33940	T	0.23	.	10.9854	0.47518	0.0:0.4457:0.0:0.5543	.	214	Q8NCN5	PDPR_HUMAN	Q	214;114	ENSP00000288050:H214Q;ENSP00000381190:H114Q	ENSP00000288050:H214Q	H	+	3	2	PDPR	68721861	0.947000	0.32204	0.893000	0.35052	0.909000	0.53808	0.008000	0.13197	-0.680000	0.05211	-0.479000	0.04858	CAT		0.448	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990	
TAT	6898	broad.mit.edu	37	16	71602619	71602619	+	Missense_Mutation	SNP	C	C	T	rs137946175	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:71602619C>T	ENST00000355962.4	-	11	1352	c.1219G>A	c.(1219-1221)Gca>Aca	p.A407T	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	407					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	CCCACCGTTGCTGGGAGGCAG	0.498																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)	.											0								C	THR/ALA	3,4393	6.2+/-15.9	0,3,2195	62.0	52.0	55.0		1219	5.0	0.7	16	dbSNP_134	55	0,8600		0,0,4300	yes	missense	TAT	NM_000353.2	58	0,3,6495	TT,TC,CC		0.0,0.0682,0.0231	benign	407/455	71602619	3,12993	2198	4300	6498	SO:0001583	missense	6898				CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.1219G>A	16.37:g.71602619C>T	ENSP00000348234:p.Ala407Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B2R8I1|D3DWS2	Missense_Mutation	SNP	ENST00000355962.4	37	CCDS10903.1	.	.	.	.	.	.	.	.	.	.	C	34	5.312294	0.95655	6.82E-4	0.0	ENSG00000198650	ENST00000355962	D	0.88354	-2.37	5.93	4.98	0.66077	Tyrosine aminotransferase (1);Aminotransferase, class I/classII (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.194477	0.53938	D	0.000045	D	0.92410	0.7591	M	0.76574	2.34	0.80722	D	1	D	0.55605	0.972	P	0.54060	0.741	D	0.93310	0.6684	10	0.87932	D	0	-0.4645	16.6213	0.84931	0.131:0.869:0.0:0.0	.	407	P17735	ATTY_HUMAN	T	407	ENSP00000348234:A407T	ENSP00000348234:A407T	A	-	1	0	TAT	70160120	1.000000	0.71417	0.715000	0.30552	0.919000	0.55068	7.567000	0.82357	1.517000	0.48917	-0.169000	0.13324	GCA		0.498	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1		
ZFHX3	463	broad.mit.edu	37	16	72822644	72822644	+	Silent	SNP	C	C	T	rs138129897	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:72822644C>T	ENST00000268489.5	-	10	10203	c.9531G>A	c.(9529-9531)tcG>tcA	p.S3177S	RP5-991G20.1_ENST00000563328.2_RNA|ZFHX3_ENST00000397992.5_Silent_p.S2263S|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3177					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGGAGCTCAGCGACGCTGAGG	0.607													C|||	3	0.000599042	0.0	0.0	5008	,	,		14507	0.0		0.0	False		,,,				2504	0.0031					.											0													73.0	78.0	76.0					16																	72822644		2198	4300	6498	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9531G>A	16.37:g.72822644C>T		Somatic		WXS	Illumina HiSeq	Phase_I	D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	CCDS10908.1																																																																																				0.607	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885	
MON1B	22879	broad.mit.edu	37	16	77228770	77228770	+	Silent	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:77228770C>A	ENST00000248248.3	+	4	1364	c.1014C>A	c.(1012-1014)gcC>gcA	p.A338A	MON1B_ENST00000320859.6_Intron|MON1B_ENST00000439557.2_Silent_p.A229A|MON1B_ENST00000545553.1_Silent_p.A192A	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	338										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						TTTTCTACGCCTACGTGGCCC	0.637																																						.											0													97.0	99.0	98.0					16																	77228770		2198	4300	6498	SO:0001819	synonymous_variant	22879			BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"""MON1 homolog B (yeast)"""			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.1014C>A	16.37:g.77228770C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DDZ0|O94949	Silent	SNP	ENST00000248248.3	37	CCDS10925.1																																																																																				0.637	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940	
WFDC1	58189	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	84353088	84353088	+	Missense_Mutation	SNP	C	C	T	rs145066295		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:84353088C>T	ENST00000219454.5	+	4	799	c.473C>T	c.(472-474)tCg>tTg	p.S158L	WFDC1_ENST00000568638.1_Missense_Mutation_p.S158L	NM_001282466.1|NM_001282467.1	NP_001269395.1|NP_001269396.1	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	158					negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|response to drug (GO:0042493)|response to estradiol (GO:0032355)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S158L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						CTCTGTCCCTCGGGCTATGAG	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		20424	0.001		0.0	False		,,,				2504	0.0					.											1	Substitution - Missense(1)	endometrium(1)						C	LEU/SER	1,4399	2.1+/-5.4	0,1,2199	80.0	62.0	68.0		473	4.4	1.0	16	dbSNP_134	68	1,8599		0,1,4299	no	missense	WFDC1	NM_021197.2	145	0,2,6498	TT,TC,CC		0.0116,0.0227,0.0154	benign	158/221	84353088	2,12998	2200	4300	6500	SO:0001583	missense	58189			AF302109	CCDS10946.1	16q24.1	2013-01-21			ENSG00000103175	ENSG00000103175		"""WAP four-disulfide core domain containing"""	15466	protein-coding gene	gene with protein product		605322				10967136	Standard	NM_021197		Approved	PS20	uc002fhw.3	Q9HC57	OTTHUMG00000137641	ENST00000219454.5:c.473C>T	16.37:g.84353088C>T	ENSP00000219454:p.Ser158Leu	Somatic		WXS	Illumina HiSeq	Phase_I	D3DUL7|Q8NC27|Q9HAU1	Missense_Mutation	SNP	ENST00000219454.5	37	CCDS10946.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516037	0.64634	2.27E-4	1.16E-4	ENSG00000103175	ENST00000219454	T	0.32753	1.44	4.43	4.43	0.53597	.	0.130447	0.49916	D	0.000127	T	0.21962	0.0529	N	0.24115	0.695	0.45704	D	0.998618	P	0.40083	0.702	B	0.35240	0.198	T	0.10451	-1.0629	10	0.62326	D	0.03	-16.3228	15.7941	0.78394	0.0:1.0:0.0:0.0	.	158	Q9HC57	WFDC1_HUMAN	L	158	ENSP00000219454:S158L	ENSP00000219454:S158L	S	+	2	0	WFDC1	82910589	1.000000	0.71417	0.986000	0.45419	0.725000	0.41563	6.721000	0.74728	2.295000	0.77249	0.555000	0.69702	TCG		0.662	WFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269083.2		
PER1	5187	broad.mit.edu;ucsc.edu;mdanderson.org	37	17	8044491	8044491	+	Silent	SNP	G	G	A	rs199916672	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:8044491G>A	ENST00000317276.4	-	23	4005	c.3768C>T	c.(3766-3768)ggC>ggT	p.G1256G	PER1_ENST00000581082.1_Silent_p.G1233G|PER1_ENST00000578089.1_5'Flank	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1256	CRY binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCTTGGCCCCGCCTTGGGCCT	0.637			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					G|||	3	0.000599042	0.0	0.0	5008	,	,		18924	0.0		0.0	False		,,,				2504	0.0031					.		Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0								G		0,4406		0,0,2203	156.0	168.0	164.0		3768	0.2	0.0	17		164	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PER1	NM_002616.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1256/1291	8044491	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5187			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.3768C>T	17.37:g.8044491G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RPA8|B4DI49|D3DTR3	Silent	SNP	ENST00000317276.4	37	CCDS11131.1																																																																																				0.637	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2		
RNF222	643904	broad.mit.edu;mdanderson.org;bcgsc.ca	37	17	8296625	8296625	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:8296625T>C	ENST00000399398.2	-	3	463	c.155A>G	c.(154-156)gAt>gGt	p.D52G	RNF222_ENST00000344001.3_Missense_Mutation_p.D52G	NM_001146684.2	NP_001140156.1	A6NCQ9	RN222_HUMAN	ring finger protein 222	52						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)	1						GACCTGCCCATCCACGCGGGT	0.637																																						.											0													38.0	40.0	40.0					17																	8296625		692	1591	2283	SO:0001583	missense	643904				CCDS45608.1	17p13.1	2013-01-09			ENSG00000189051	ENSG00000189051		"""RING-type (C3HC4) zinc fingers"""	34517	protein-coding gene	gene with protein product							Standard	NM_001146684		Approved		uc010vuy.1	A6NCQ9	OTTHUMG00000132049	ENST00000399398.2:c.155A>G	17.37:g.8296625T>C	ENSP00000382330:p.Asp52Gly	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000399398.2	37	CCDS45608.1	.	.	.	.	.	.	.	.	.	.	T	19.81	3.895719	0.72639	.	.	ENSG00000189051	ENST00000344001;ENST00000399398	T;T	0.67698	-0.28;-0.28	4.56	4.56	0.56223	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.131674	0.49305	D	0.000159	T	0.59500	0.2198	N	0.12471	0.22	0.42447	D	0.992733	P	0.41784	0.762	P	0.50378	0.639	T	0.65335	-0.6193	10	0.51188	T	0.08	-25.5462	13.529	0.61611	0.0:0.0:0.0:1.0	.	52	A6NCQ9	RN222_HUMAN	G	52	ENSP00000343799:D52G;ENSP00000382330:D52G	ENSP00000343799:D52G	D	-	2	0	RNF222	8237350	0.988000	0.35896	0.898000	0.35279	0.714000	0.41099	3.691000	0.54720	2.047000	0.60756	0.523000	0.50628	GAT		0.637	RNF222-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255072.2	NM_001146684.2	
CCDC144CP	348254	broad.mit.edu	37	17	20242798	20242798	+	RNA	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:20242798G>A	ENST00000340196.4	+	0	2823				RN7SL17P_ENST00000583626.1_RNA			Q8IYA2	C144C_HUMAN	coiled-coil domain containing 144C, pseudogene																		TGCAGAAAACGTCTCAAGAAC	0.373																																						.											0																																												348254					17p11.2	2013-03-14	2013-03-14	2013-03-14	ENSG00000154898	ENSG00000154898			29073	pseudogene	pseudogene			"""coiled-coil domain containing 144C"""	CCDC144C		11997339	Standard	NR_023380		Approved		uc010cqy.1	Q8IYA2	OTTHUMG00000059513		17.37:g.20242798G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7WNP5	RNA	SNP	ENST00000340196.4	37																																																																																					0.373	CCDC144CP-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000132378.2	NR_023380	
MYO18A	399687	broad.mit.edu	37	17	27423863	27423863	+	Missense_Mutation	SNP	C	C	T	rs375872794		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:27423863C>T	ENST00000527372.1	-	28	4481	c.4301G>A	c.(4300-4302)cGa>cAa	p.R1434Q	MYO18A_ENST00000533112.1_Missense_Mutation_p.R1434Q|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1434Q|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1434Q	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1434					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AGCCGTCAGTCGCTGGCACTT	0.617																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	.											0								C	GLN/ARG,GLN/ARG	1,4255		0,1,2127	28.0	31.0	30.0		4301,4301	5.5	1.0	17		30	0,8536		0,0,4268	no	missense,missense	MYO18A	NM_078471.3,NM_203318.1	43,43	0,1,6395	TT,TC,CC		0.0,0.0235,0.0078	probably-damaging,probably-damaging	1434/2055,1434/2040	27423863	1,12791	2128	4268	6396	SO:0001583	missense	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4301G>A	17.37:g.27423863C>T	ENSP00000437073:p.Arg1434Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	34	5.306160	0.95629	2.35E-4	0.0	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	D;T;D;D	0.83250	-1.7;1.57;-1.7;-1.7	5.53	5.53	0.82687	Myosin tail (1);	0.105696	0.64402	D	0.000013	D	0.90079	0.6901	M	0.77820	2.39	0.33459	D	0.584714	D;D;D;D;D	0.65815	0.99;0.975;0.975;0.975;0.995	P;P;P;P;P	0.58210	0.593;0.482;0.482;0.482;0.835	D	0.93109	0.6515	10	0.72032	D	0.01	.	19.4519	0.94871	0.0:1.0:0.0:0.0	.	1103;1046;1434;1434;1434	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	Q	1434;1434;1434;1434;1434;330;330;1046	ENSP00000346291:R1434Q;ENSP00000435932:R1434Q;ENSP00000434228:R1434Q;ENSP00000437073:R1434Q	ENSP00000346291:R1434Q	R	-	2	0	MYO18A	24447989	0.977000	0.34250	0.999000	0.59377	0.922000	0.55478	2.369000	0.44231	2.606000	0.88127	0.591000	0.81541	CGA		0.617	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471	
GIT1	28964	broad.mit.edu	37	17	27901911	27901911	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:27901911G>A	ENST00000225394.3	-	20	2343	c.2095C>T	c.(2095-2097)Cgg>Tgg	p.R699W	GIT1_ENST00000581348.1_Missense_Mutation_p.R685W|GIT1_ENST00000394869.3_Missense_Mutation_p.R708W|GIT1_ENST00000579937.1_3'UTR|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	699	Interaction with PXN and TGFB1I1. {ECO:0000250}.				regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		AGTGAGCTCCGCACTGGCTCC	0.657																																					Colon(81;41 1719 20078 35068)	.											0													9.0	10.0	10.0					17																	27901911		2177	4255	6432	SO:0001583	missense	28964			AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4272	protein-coding gene	gene with protein product		608434	"""G protein-coupled receptor kinase interactor 1"""			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.2095C>T	17.37:g.27901911G>A	ENSP00000225394:p.Arg699Trp	Somatic		WXS	Illumina HiSeq	Phase_I	B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Missense_Mutation	SNP	ENST00000225394.3	37	CCDS11250.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.879048	0.72294	.	.	ENSG00000108262	ENST00000225394;ENST00000394869	T;T	0.75938	-0.92;-0.98	4.65	4.65	0.58169	G protein-coupled receptor kinase-interacting protein 1 C term (1);	0.063541	0.64402	D	0.000005	D	0.87676	0.6237	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.998;0.994	D	0.89738	0.3931	10	0.87932	D	0	.	17.7096	0.88318	0.0:0.0:1.0:0.0	.	712;708;699	Q59FC3;B4DGU9;Q9Y2X7	.;.;GIT1_HUMAN	W	699;708	ENSP00000225394:R699W;ENSP00000378338:R708W	ENSP00000225394:R699W	R	-	1	2	GIT1	24926037	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.645000	0.46621	2.574000	0.86865	0.655000	0.94253	CGG		0.657	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030	
GPR179	440435	broad.mit.edu;mdanderson.org;bcgsc.ca	37	17	36499408	36499408	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:36499408G>A	ENST00000342292.4	-	1	285	c.265C>T	c.(265-267)Cca>Tca	p.P89S		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	89					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGGAGCCCTGGCATGGCTCCT	0.627																																						.											0													26.0	27.0	27.0					17																	36499408		1973	4131	6104	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.265C>T	17.37:g.36499408G>A	ENSP00000345060:p.Pro89Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000342292.4	37	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	2.305	-0.359368	0.05138	.	.	ENSG00000188888	ENST00000342292	T	0.77877	-1.13	5.32	-6.93	0.01638	.	1.079380	0.07091	N	0.838662	T	0.61211	0.2329	L	0.28694	0.88	0.09310	N	1	P	0.35077	0.483	B	0.30943	0.122	T	0.53823	-0.8384	10	0.44086	T	0.13	0.5925	11.1639	0.48531	0.3154:0.5573:0.1273:0.0	.	89	Q6PRD1	GP179_HUMAN	S	89	ENSP00000345060:P89S	ENSP00000345060:P89S	P	-	1	0	GPR179	33752934	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.709000	0.05030	-1.063000	0.03177	-0.768000	0.03414	CCA		0.627	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2		
SOCS7	30837	broad.mit.edu	37	17	36521270	36521270	+	Silent	SNP	G	G	A	rs149190855		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:36521270G>A	ENST00000577233.1	+	4	1038	c.1038G>A	c.(1036-1038)ccG>ccA	p.P346P	SOCS7_ENST00000331159.5_Intron	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	346	Mediates interaction with SORBS3.|Poly-Pro.				fat cell differentiation (GO:0045444)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of signal transduction (GO:0009968)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					CCCTACCTCCGCCTCCTCCAC	0.498																																						.											0								G		0,4406		0,0,2203	87.0	81.0	83.0		1038	2.5	1.0	17	dbSNP_134	83	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	SOCS7	NM_014598.2		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		346/582	36521270	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	30837			AB005216	CCDS32637.1	17q12	2014-08-12			ENSG00000274211	ENSG00000274211		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	29846	protein-coding gene	gene with protein product	"""Nck, Ash and phospholipase C binding protein"", ""NCK-associated protein 4"""	608788				9344857, 12076535	Standard	XM_005257264		Approved	NAP4, NCKAP4	uc002hqa.3	O14512	OTTHUMG00000188546	ENST00000577233.1:c.1038G>A	17.37:g.36521270G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A2VCU2|Q0IJ63	Silent	SNP	ENST00000577233.1	37	CCDS32637.1																																																																																				0.498	SOCS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440486.4	XM_371052	
KRTAP9-9	81870	broad.mit.edu;mdanderson.org	37	17	39411913	39411913	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:39411913C>T	ENST00000394008.1	+	1	278	c.276C>T	c.(274-276)ggC>ggT	p.G92G		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	77	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGCTGTGGCCAAACCAGCT	0.627																																						.											0													60.0	62.0	62.0					17																	39411913		2203	4299	6502	SO:0001819	synonymous_variant	81870			AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"""Keratin associated proteins"""	16773	protein-coding gene	gene with protein product			"""keratin associated protein 9-5"""	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.276C>T	17.37:g.39411913C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B5MDD6|Q9BYQ1	Silent	SNP	ENST00000394008.1	37	CCDS54127.1																																																																																				0.627	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975	
KIF18B	146909	broad.mit.edu;mdanderson.org	37	17	43004364	43004364	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:43004364C>T	ENST00000593135.1	-	14	2456	c.2359G>A	c.(2359-2361)Gtt>Att	p.V787I	KIF18B_ENST00000590129.1_Missense_Mutation_p.V808I|KIF18B_ENST00000339151.4_Missense_Mutation_p.V790I|KIF18B_ENST00000438933.2_Missense_Mutation_p.V799I|KIF18B_ENST00000587309.1_Missense_Mutation_p.V799I	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	799					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.V799I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CACCTCGCAACGCGCTTCTTC	0.637																																						.											1	Substitution - Missense(1)	large_intestine(1)											33.0	36.0	35.0					17																	43004364		2033	4203	6236	SO:0001583	missense	146909				CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.2359G>A	17.37:g.43004364C>T	ENSP00000465992:p.Val787Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	C	7.843	0.722392	0.15439	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.72615	-0.66;-0.67	4.94	-9.87	0.00470	.	.	.	.	.	T	0.44117	0.1278	N	0.16478	0.41	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.29579	-1.0007	9	0.36615	T	0.2	.	4.9781	0.14151	0.0807:0.4484:0.343:0.1279	.	799;796;808	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	I	799;790;799	ENSP00000412798:V799I;ENSP00000341466:V790I	ENSP00000341466:V790I	V	-	1	0	KIF18B	40359890	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.657000	0.00202	-3.230000	0.00209	-1.004000	0.02495	GTT		0.637	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443	
NOG	9241	broad.mit.edu;bcgsc.ca	37	17	54672235	54672235	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:54672235G>A	ENST00000332822.4	+	1	1176	c.651G>A	c.(649-651)tgG>tgA	p.W217*		NM_005450.4	NP_005441.1	Q13253	NOGG_HUMAN	noggin	217			W -> G (in SYNS1). {ECO:0000269|PubMed:10080184}.		axial mesoderm development (GO:0048318)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal system development (GO:0048706)|endoderm formation (GO:0001706)|epithelial to mesenchymal transition (GO:0001837)|face morphogenesis (GO:0060325)|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060825)|in utero embryonic development (GO:0001701)|limb development (GO:0060173)|lung morphogenesis (GO:0060425)|mesoderm formation (GO:0001707)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine activity (GO:0060302)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of glomerulus development (GO:0090193)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostatic bud formation (GO:0060513)|regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000313)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|somite development (GO:0061053)|spinal cord development (GO:0021510)|ureteric bud formation (GO:0060676)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)			ovary(1)	1	Breast(9;5.24e-08)					GCTGCGGCTGGATTCCCATCC	0.682																																						.											0													15.0	16.0	16.0					17																	54672235		2198	4288	6486	SO:0001587	stop_gained	9241			U31202	CCDS11589.1	17q22	2006-04-25	2003-03-12		ENSG00000183691	ENSG00000183691			7866	protein-coding gene	gene with protein product		602991	"""synostoses (multiple) syndrome 1"", ""symphalangism 1 (proximal)"""	SYNS1, SYM1		7666191, 10080184, 11545688	Standard	NM_005450		Approved		uc002iup.2	Q13253	OTTHUMG00000151770	ENST00000332822.4:c.651G>A	17.37:g.54672235G>A	ENSP00000328181:p.Trp217*	Somatic		WXS	Illumina HiSeq	Phase_I		Nonsense_Mutation	SNP	ENST00000332822.4	37	CCDS11589.1	.	.	.	.	.	.	.	.	.	.	G	41	8.622229	0.98888	.	.	ENSG00000183691	ENST00000332822	.	.	.	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4384	17.712	0.88324	0.0:0.0:1.0:0.0	.	.	.	.	X	217	.	ENSP00000328181:W217X	W	+	3	0	NOG	52027234	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.550000	0.98110	2.418000	0.82041	0.561000	0.74099	TGG		0.682	NOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323857.1	NM_005450	
OR4D2	124538	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	56247381	56247381	+	Missense_Mutation	SNP	G	G	A	rs142058863	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:56247381G>A	ENST00000545221.1	+	1	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122H(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GCCTTTGACCGCCTCATTGCC	0.562																																						.											1	Substitution - Missense(1)	stomach(1)						G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	83.0	81.0	81.0		365	3.7	0.6	17	dbSNP_134	81	3,8597	3.0+/-9.4	0,3,4297	yes	missense	OR4D2	NM_001004707.3	29	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	probably-damaging	122/308	56247381	4,13002	2203	4300	6503	SO:0001583	missense	124538				CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.365G>A	17.37:g.56247381G>A	ENSP00000441354:p.Arg122His	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.592236	0.28357	2.27E-4	3.49E-4	ENSG00000255713	ENST00000545221	T	0.77489	-1.1	5.71	3.74	0.42951	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000034	T	0.76040	0.3932	M	0.86178	2.8	0.36718	D	0.881022	P	0.35684	0.515	B	0.27715	0.082	T	0.80400	-0.1398	10	0.87932	D	0	-26.1465	10.7946	0.46453	0.1547:0.0:0.8453:0.0	.	122	P58180	OR4D2_HUMAN	H	122	ENSP00000441354:R122H	ENSP00000441354:R122H	R	+	2	0	OR4D2	53602380	1.000000	0.71417	0.567000	0.28434	0.094000	0.18550	7.976000	0.88070	0.899000	0.36444	-0.166000	0.13349	CGC		0.562	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1		
OR4D2	124538	broad.mit.edu;bcgsc.ca	37	17	56247407	56247407	+	Missense_Mutation	SNP	C	C	T	rs370339516		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:56247407C>T	ENST00000545221.1	+	1	391	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CCGGCCCCTCCGCTATGTCAC	0.567																																						.											0								C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	84.0	84.0	84.0		391	5.7	1.0	17		84	0,8600		0,0,4300	no	missense	OR4D2	NM_001004707.3	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	131/308	56247407	2,13004	2203	4300	6503	SO:0001583	missense	124538				CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.391C>T	17.37:g.56247407C>T	ENSP00000441354:p.Arg131Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810088	0.90707	4.54E-4	0.0	ENSG00000255713	ENST00000545221	T	0.00922	5.54	5.71	5.71	0.89125	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000021	T	0.03053	0.0090	L	0.59436	1.845	0.43787	D	0.996324	D	0.65815	0.995	P	0.52343	0.696	T	0.50056	-0.8872	10	0.87932	D	0	-22.3682	17.7075	0.88312	0.0:1.0:0.0:0.0	.	131	P58180	OR4D2_HUMAN	C	131	ENSP00000441354:R131C	ENSP00000441354:R131C	R	+	1	0	OR4D2	53602406	0.086000	0.21541	1.000000	0.80357	0.944000	0.59088	3.329000	0.52060	2.860000	0.98153	0.609000	0.83330	CGC		0.567	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1		
TANC2	26115	broad.mit.edu	37	17	61497780	61497780	+	Silent	SNP	A	A	G	rs200208895		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:61497780A>G	ENST00000424789.2	+	25	4441	c.4437A>G	c.(4435-4437)agA>agG	p.R1479R	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Silent_p.R1489R	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1479					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTCCCACTAGACAGACCTATC	0.552																																						.											0								A		0,4060		0,0,2030	105.0	105.0	105.0		4437	-1.6	1.0	17		105	2,8370		0,2,4184	no	coding-synonymous	TANC2	NM_025185.3		0,2,6214	GG,GA,AA		0.0239,0.0,0.0161		1479/1991	61497780	2,12430	2030	4186	6216	SO:0001819	synonymous_variant	26115			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.4437A>G	17.37:g.61497780A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	ENST00000424789.2	37	CCDS45754.1																																																																																				0.552	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1		
MGAT5B	146664	broad.mit.edu;bcgsc.ca	37	17	74901299	74901299	+	Missense_Mutation	SNP	G	G	A	rs199861646		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:74901299G>A	ENST00000569840.2	+	7	1313	c.739G>A	c.(739-741)Ggg>Agg	p.G247R	MGAT5B_ENST00000301618.4_Missense_Mutation_p.G247R|MGAT5B_ENST00000428789.2_Missense_Mutation_p.G258R|MGAT5B_ENST00000374998.3_3'UTR	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	247					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GATGGGCAGCGGGAAGGAGTC	0.637																																						.											0													40.0	44.0	42.0					17																	74901299		2203	4300	6503	SO:0001583	missense	146664			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.739G>A	17.37:g.74901299G>A	ENSP00000456037:p.Gly247Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732689	0.69189	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.44083	0.94;0.93	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.60077	0.2241	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.53774	-0.8391	10	0.12430	T	0.62	-47.5883	17.7669	0.88481	0.0:0.0:1.0:0.0	.	258;247	Q3V5L5-2;Q3V5L5-5	.;.	R	247;247;258	ENSP00000301618:G247R;ENSP00000391227:G258R	ENSP00000301618:G247R	G	+	1	0	MGAT5B	72412894	1.000000	0.71417	0.997000	0.53966	0.957000	0.61999	8.893000	0.92498	2.416000	0.81992	0.514000	0.50259	GGG		0.637	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677	
ENTHD2	146705	broad.mit.edu;mdanderson.org	37	17	79203107	79203107	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:79203107G>A	ENST00000300714.3	-	12	1256	c.1199C>T	c.(1198-1200)tCg>tTg	p.S400L	AC027601.1_ENST00000569559.1_RNA|AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000374769.2_Missense_Mutation_p.S316L	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	400	Pro-rich.					cytoplasmic vesicle (GO:0031410)											GCTCCGGGACGAGACCGGGGT	0.697																																						.											0													12.0	10.0	11.0					17																	79203107		2186	4284	6470	SO:0001583	missense	146705			AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 56"""	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.1199C>T	17.37:g.79203107G>A	ENSP00000300714:p.Ser400Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZQU0|Q6ZSQ9	Missense_Mutation	SNP	ENST00000300714.3	37	CCDS11779.1	.	.	.	.	.	.	.	.	.	.	G	4.727	0.135111	0.09032	.	.	ENSG00000167302	ENST00000300714;ENST00000374769	T;T	0.63255	-0.03;-0.03	4.31	-5.6	0.02497	.	.	.	.	.	T	0.33030	0.0849	N	0.16478	0.41	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.39563	-0.9608	9	0.02654	T	1	2.2347	6.7078	0.23260	0.6036:0.0:0.2796:0.1168	.	400;316	Q96N21;Q96N21-2	CQ056_HUMAN;.	L	400;316	ENSP00000300714:S400L;ENSP00000363901:S316L	ENSP00000300714:S400L	S	-	2	0	C17orf56	76817702	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.483000	0.06536	-1.170000	0.02769	-0.373000	0.07131	TCG		0.697	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439315.1	NM_144679	
THOC1	9984	broad.mit.edu;mdanderson.org	37	18	216576	216576	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:216576G>A	ENST00000261600.6	-	19	1519	c.1512C>T	c.(1510-1512)agC>agT	p.S504S		NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	504					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				AGAAGTGAGGGCTTCTCCGTG	0.393																																						.											0													151.0	151.0	151.0					18																	216576		1851	4094	5945	SO:0001819	synonymous_variant	9984			AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"""THO complex subunits"""	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.1512C>T	18.37:g.216576G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RBP6|Q15219|Q64I72|Q64I73	Silent	SNP	ENST00000261600.6	37	CCDS45820.1																																																																																				0.393	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131	
ROCK1	6093	broad.mit.edu;mdanderson.org	37	18	18533573	18533573	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:18533573G>A	ENST00000399799.2	-	32	4967	c.4027C>T	c.(4027-4029)Cgg>Tgg	p.R1343W		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1343	Auto-inhibitory.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					ACCACTTTCCGGAAAGACTGA	0.358																																						.											0													91.0	101.0	97.0					18																	18533573		2201	4296	6497	SO:0001583	missense	6093				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.4027C>T	18.37:g.18533573G>A	ENSP00000382697:p.Arg1343Trp	Somatic		WXS	Illumina HiSeq	Phase_I	B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764115	0.31228	.	.	ENSG00000067900	ENST00000399799	T	0.72394	-0.65	4.88	3.99	0.46301	.	0.000000	0.85682	D	0.000000	T	0.69296	0.3095	N	0.08118	0	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.75628	-0.3252	10	0.87932	D	0	.	13.4607	0.61225	0.0:0.0:0.6287:0.3713	.	1343	Q13464	ROCK1_HUMAN	W	1343	ENSP00000382697:R1343W	ENSP00000382697:R1343W	R	-	1	2	ROCK1	16787571	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.691000	0.54720	1.024000	0.39682	0.404000	0.27445	CGG		0.358	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406	
GREB1L	80000	broad.mit.edu;ucsc.edu;mdanderson.org	37	18	19070219	19070219	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:19070219C>T	ENST00000580732.2	+	19	3318	c.2937C>T	c.(2935-2937)cgC>cgT	p.R979R	GREB1L_ENST00000424526.1_Silent_p.R979R|GREB1L_ENST00000400483.4_3'UTR|GREB1L_ENST00000269218.6_Silent_p.R870R			Q9C091	GRB1L_HUMAN	growth regulation by estrogen in breast cancer-like	979						integral component of membrane (GO:0016021)				breast(5)|endometrium(4)|kidney(6)|lung(1)|skin(1)	17						AGGAGGTGCGCGACAAACTGG	0.552											OREG0024887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													78.0	82.0	81.0					18																	19070219		692	1591	2283	SO:0001819	synonymous_variant	80000			AK023749	CCDS45836.1	18q11.2	2009-09-08	2009-09-08	2009-09-08					31042	protein-coding gene	gene with protein product			"""KIAA1772"""	KIAA1772		11214970	Standard	NM_001142966		Approved	FLJ13687, C18orf6	uc010xam.2	Q9C091		ENST00000580732.2:c.2937C>T	18.37:g.19070219C>T		Somatic	730	WXS	Illumina HiSeq	Phase_I	A4QN17|Q9H8F1	Silent	SNP	ENST00000580732.2	37	CCDS45836.1																																																																																				0.552	GREB1L-003	KNOWN	not_organism_supported|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443782.2	NM_024935	
TCEB3C	162699	broad.mit.edu	37	18	44554924	44554924	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:44554924C>T	ENST00000330682.2	-	1	1525	c.1290G>A	c.(1288-1290)gtG>gtA	p.V430V	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	430	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TTTTCGTGGTCACTACTCGCA	0.567																																						.											0													8.0	8.0	8.0					18																	44554924		1152	2342	3494	SO:0001819	synonymous_variant	162699			AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1290G>A	18.37:g.44554924C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000330682.2	37	CCDS11931.1																																																																																				0.567	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653	
ALPK2	115701	broad.mit.edu	37	18	56191246	56191246	+	Silent	SNP	C	C	T	rs145864025	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:56191246C>T	ENST00000361673.3	-	7	5763	c.5550G>A	c.(5548-5550)ccG>ccA	p.P1850P		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1850	Ig-like 2.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCTGGTCCTTCGGACTGGCTT	0.448													C|||	4	0.000798722	0.003	0.0	5008	,	,		22113	0.0		0.0	False		,,,				2504	0.0					.											0								C		19,4387	26.2+/-53.5	0,19,2184	91.0	87.0	89.0		5550	-0.9	0.8	18	dbSNP_134	89	0,8600		0,0,4300	no	coding-synonymous	ALPK2	NM_052947.3		0,19,6484	TT,TC,CC		0.0,0.4312,0.1461		1850/2171	56191246	19,12987	2203	4300	6503	SO:0001819	synonymous_variant	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.5550G>A	18.37:g.56191246C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	CCDS11966.2																																																																																				0.448	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947	
ATP9B	374868	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	18	76886295	76886295	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:76886295G>A	ENST00000426216.2	+	5	604	c.587G>A	c.(586-588)cGg>cAg	p.R196Q	ATP9B_ENST00000307671.7_Missense_Mutation_p.R196Q|ATP9B_ENST00000591464.1_3'UTR	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	196					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		ACTATGACACGGGAAGCAATT	0.333																																						.											0													168.0	147.0	154.0					18																	76886295		2203	4300	6503	SO:0001583	missense	374868			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.587G>A	18.37:g.76886295G>A	ENSP00000398076:p.Arg196Gln	Somatic		WXS	Illumina HiSeq	Phase_I	O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060644	0.76074	.	.	ENSG00000166377	ENST00000542323;ENST00000426216;ENST00000307671	T;T	0.76709	-1.04;-1.04	5.42	5.42	0.78866	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.90079	0.6901	M	0.88906	2.99	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71184	0.972;0.952	D	0.91498	0.5217	10	0.87932	D	0	.	19.164	0.93546	0.0:0.0:1.0:0.0	.	196;196	O43861;O43861-2	ATP9B_HUMAN;.	Q	119;196;196	ENSP00000398076:R196Q;ENSP00000304500:R196Q	ENSP00000304500:R196Q	R	+	2	0	ATP9B	74987283	1.000000	0.71417	0.758000	0.31321	0.165000	0.22458	8.533000	0.90617	2.703000	0.92315	0.591000	0.81541	CGG		0.333	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531	
ABHD17A	81926	broad.mit.edu;mdanderson.org;bcgsc.ca	37	19	1881247	1881247	+	Missense_Mutation	SNP	C	C	T	rs536953984		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:1881247C>T	ENST00000292577.7	-	2	752	c.319G>A	c.(319-321)Gtg>Atg	p.V107M	ABHD17A_ENST00000250974.9_Missense_Mutation_p.V107M|ABHD17A_ENST00000590661.1_Missense_Mutation_p.V107M	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	107						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										GCACCAGGCACGCAGCGAACA	0.657													c|||	1	0.000199681	0.0	0.0	5008	,	,		14967	0.0		0.0	False		,,,				2504	0.001					.											0													37.0	42.0	40.0					19																	1881247		2202	4300	6502	SO:0001583	missense	81926			BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"""Abhydrolase domain containing"""	28756	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 27"", ""family with sequence similarity 108, member A1"""	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.319G>A	19.37:g.1881247C>T	ENSP00000292577:p.Val107Met	Somatic		WXS	Illumina HiSeq	Phase_I	A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Missense_Mutation	SNP	ENST00000292577.7	37	CCDS45902.1	.	.	.	.	.	.	.	.	.	.	c	21.4	4.148561	0.78001	.	.	ENSG00000129968	ENST00000250974;ENST00000292577	T;T	0.32272	1.46;1.51	4.0	4.0	0.46444	.	0.251859	0.39210	N	0.001438	T	0.41673	0.1169	L	0.54323	1.7	0.46631	D	0.999133	P;D;D;D	0.58268	0.904;0.982;0.967;0.982	B;P;P;P	0.52710	0.255;0.707;0.52;0.62	T	0.37663	-0.9696	10	0.49607	T	0.09	-8.8925	15.6325	0.76923	0.0:1.0:0.0:0.0	.	107;107;107;107	Q96GS6;Q96GS6-2;Q96GS6-3;Q96GS6-4	F18A1_HUMAN;.;.;.	M	107	ENSP00000250974:V107M;ENSP00000292577:V107M	ENSP00000250974:V107M	V	-	1	0	FAM108A1	1832247	0.534000	0.26362	0.949000	0.38748	0.778000	0.44026	2.927000	0.48900	2.226000	0.72624	0.561000	0.74099	GTG		0.657	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213	
SGTA	6449	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	2757763	2757763	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:2757763G>A	ENST00000221566.2	-	10	916	c.755C>T	c.(754-756)tCg>tTg	p.S252L		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	252					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTGCCACCCGAAATCATGCC	0.667																																						.											0													84.0	67.0	73.0					19																	2757763		2202	4300	6502	SO:0001583	missense	6449			AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"""Tetratricopeptide (TTC) repeat domain containing"""	10819	protein-coding gene	gene with protein product		603419	"""small glutamine-rich tetratricopeptide repeat (TPR)-containing"""	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.755C>T	19.37:g.2757763G>A	ENSP00000221566:p.Ser252Leu	Somatic		WXS	Illumina HiSeq	Phase_I	D6W610|Q6FIA9|Q9BTZ9	Missense_Mutation	SNP	ENST00000221566.2	37	CCDS12094.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365421	0.24684	.	.	ENSG00000104969	ENST00000221566	T	0.37235	1.21	4.68	3.63	0.41609	.	0.439728	0.26055	N	0.026613	T	0.32645	0.0836	M	0.72118	2.19	0.58432	D	0.999995	P	0.46512	0.879	B	0.34180	0.177	T	0.26395	-1.0104	10	0.52906	T	0.07	-13.5307	11.172	0.48577	0.0:0.0:0.8153:0.1847	.	252	O43765	SGTA_HUMAN	L	252	ENSP00000221566:S252L	ENSP00000221566:S252L	S	-	2	0	SGTA	2708763	1.000000	0.71417	0.121000	0.21740	0.002000	0.02628	7.190000	0.77755	0.951000	0.37770	-0.181000	0.13052	TCG		0.667	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	NM_003021	
S1PR4	8698	broad.mit.edu	37	19	3179323	3179323	+	Missense_Mutation	SNP	T	T	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:3179323T>G	ENST00000246115.3	+	1	588	c.533T>G	c.(532-534)aTg>aGg	p.M178R	S1PR4_ENST00000591346.1_3'UTR	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	178					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CTGCTGGGGATGCTGCCTTTG	0.667																																					GBM(82;318 1638 33279 49708)	.											0													73.0	77.0	76.0					19																	3179323		2203	4299	6502	SO:0001583	missense	8698			AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3170	protein-coding gene	gene with protein product		603751	"""endothelial differentiation, G-protein-coupled receptor 6"", ""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"""	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.533T>G	19.37:g.3179323T>G	ENSP00000246115:p.Met178Arg	Somatic		WXS	Illumina HiSeq	Phase_I	D6W612	Missense_Mutation	SNP	ENST00000246115.3	37	CCDS12105.1	.	.	.	.	.	.	.	.	.	.	T	9.100	1.003889	0.19199	.	.	ENSG00000125910	ENST00000246115	T	0.72505	-0.66	4.17	4.17	0.49024	GPCR, rhodopsin-like superfamily (1);	0.183707	0.38381	N	0.001712	T	0.56514	0.1990	L	0.27053	0.805	0.29963	N	0.819214	B	0.14438	0.01	B	0.06405	0.002	T	0.54970	-0.8213	10	0.36615	T	0.2	.	12.346	0.55122	0.0:0.0:0.0:1.0	.	178	O95977	S1PR4_HUMAN	R	178	ENSP00000246115:M178R	ENSP00000246115:M178R	M	+	2	0	S1PR4	3130323	1.000000	0.71417	0.972000	0.41901	0.067000	0.16453	4.698000	0.61789	1.660000	0.50760	0.379000	0.24179	ATG		0.667	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775	
CHAF1A	10036	broad.mit.edu;ucsc.edu;mdanderson.org	37	19	4409549	4409549	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:4409549G>A	ENST00000301280.5	+	3	854	c.753G>A	c.(751-753)ccG>ccA	p.P251P		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	251	Binds to CBX1 chromo shadow domain.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)	p.P251P(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGACCACCGCAAATCAAGT	0.542								Chromatin Structure																														.											1	Substitution - coding silent(1)	endometrium(1)											108.0	102.0	104.0					19																	4409549		2203	4300	6503	SO:0001819	synonymous_variant	10036			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.753G>A	19.37:g.4409549G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6NXG5|Q7Z7K3|Q9UJY8	Silent	SNP	ENST00000301280.5	37	CCDS32875.1																																																																																				0.542	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483	
FUT6	2528	broad.mit.edu	37	19	5832569	5832569	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:5832569G>T	ENST00000318336.4	-	3	1204	c.10C>A	c.(10-12)Ctg>Atg	p.L4M	FUT6_ENST00000527106.1_Missense_Mutation_p.L4M|FUT6_ENST00000592563.1_Missense_Mutation_p.L4M|FUT6_ENST00000286955.5_Missense_Mutation_p.L4M|FUT6_ENST00000524754.1_Missense_Mutation_p.L4M	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	4					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						GCCGGGCCCAGGGGATCCATG	0.572																																						.											0													24.0	23.0	23.0					19																	5832569		2203	4298	6501	SO:0001583	missense	2528				CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"""Fucosyltransferases"""	4017	protein-coding gene	gene with protein product	"""alpha-(1,3)-fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.10C>A	19.37:g.5832569G>T	ENSP00000313398:p.Leu4Met	Somatic		WXS	Illumina HiSeq	Phase_I	A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	ENST00000318336.4	37	CCDS12152.1	.	.	.	.	.	.	.	.	.	.	G	6.593	0.477774	0.12521	.	.	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530;ENST00000529165;ENST00000531085;ENST00000531199;ENST00000532464;ENST00000528505	T;T;T;T;T;T;T;T;T	0.60424	1.47;1.47;1.47;1.47;0.73;1.53;1.05;0.95;0.19	3.7	-0.311	0.12761	.	2.076500	0.03294	N	0.188040	T	0.52386	0.1731	L	0.59436	1.845	0.09310	N	1	P;P	0.45283	0.855;0.744	B;B	0.39027	0.288;0.288	T	0.46721	-0.9171	10	0.39692	T	0.17	.	7.2312	0.26043	0.0:0.1502:0.4851:0.3647	.	4;4	C9J8A2;P51993	.;FUT6_HUMAN	M	4	ENSP00000431708:L4M;ENSP00000432954:L4M;ENSP00000313398:L4M;ENSP00000286955:L4M;ENSP00000436547:L4M;ENSP00000432161:L4M;ENSP00000436413:L4M;ENSP00000431880:L4M;ENSP00000433811:L4M	ENSP00000286955:L4M	L	-	1	2	FUT6	5783569	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.153000	0.16323	-0.057000	0.13199	0.436000	0.28706	CTG		0.572	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150	
ARHGEF18	23370	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	7521290	7521290	+	Splice_Site	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:7521290G>A	ENST00000359920.6	+	8	1870		c.e8+1		ARHGEF18_ENST00000319670.9_Splice_Site|CTD-2207O23.3_ENST00000593531.1_Splice_Site	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18						actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				TGCTTCTGTGGTATGTATCCT	0.502																																						.											0													265.0	244.0	251.0					19																	7521290		2203	4300	6503	SO:0001630	splice_region_variant	23370			AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.1617+1G>A	19.37:g.7521290G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8MV62|B5ME81|O60274|Q6DD92	Splice_Site	SNP	ENST00000359920.6	37	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988343	0.35036	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1329	0.72539	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGEF18	7427290	1.000000	0.71417	0.762000	0.31397	0.109000	0.19521	9.177000	0.94849	2.167000	0.68274	0.655000	0.94253	.		0.502	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318	Intron
FBN3	84467	broad.mit.edu	37	19	8209801	8209801	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:8209801G>A	ENST00000600128.1	-	6	915	c.501C>T	c.(499-501)tgC>tgT	p.C167C	FBN3_ENST00000601739.1_Silent_p.C167C|FBN3_ENST00000270509.2_Silent_p.C167C			Q75N90	FBN3_HUMAN	fibrillin 3	167	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACACACAGGCGCAGCGGTTGG	0.622																																						.											0													52.0	40.0	44.0					19																	8209801		2202	4300	6502	SO:0001819	synonymous_variant	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.501C>T	19.37:g.8209801G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1																																																																																				0.622	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
DNMT1	1786	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	10246467	10246467	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:10246467T>C	ENST00000340748.4	-	38	4905	c.4670A>G	c.(4669-4671)cAg>cGg	p.Q1557R	DNMT1_ENST00000359526.4_Missense_Mutation_p.Q1573R|DNMT1_ENST00000540357.1_Missense_Mutation_p.Q1560R			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1557	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	AGGGAAGCCCTGGGAGCGGGC	0.697																																						.											0													22.0	21.0	21.0					19																	10246467		2198	4297	6495	SO:0001583	missense	1786			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.4670A>G	19.37:g.10246467T>C	ENSP00000345739:p.Gln1557Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.530539	0.85706	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.56275	0.47;0.47;0.47	5.22	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.82217	0.4989	H	0.98883	4.36	0.53688	D	0.999972	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.86248	0.1647	10	0.87932	D	0	-37.846	11.1333	0.48360	0.0:0.0:0.1553:0.8447	.	1560;1573;1557	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	R	1573;1560;1557;1425	ENSP00000352516:Q1573R;ENSP00000440457:Q1560R;ENSP00000345739:Q1557R	ENSP00000345739:Q1557R	Q	-	2	0	DNMT1	10107467	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.749000	0.85096	0.779000	0.33543	0.459000	0.35465	CAG		0.697	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379	
ZNF441	126068	broad.mit.edu	37	19	11891522	11891522	+	Missense_Mutation	SNP	T	T	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:11891522T>G	ENST00000357901.4	+	4	985	c.883T>G	c.(883-885)Ttt>Gtt	p.F295V	ZNF441_ENST00000454339.2_Missense_Mutation_p.F228V	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	295					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTTGGAAGCTTTCAAAGACA	0.393																																						.											0													100.0	101.0	101.0					19																	11891522		2203	4300	6503	SO:0001583	missense	126068			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.883T>G	19.37:g.11891522T>G	ENSP00000350576:p.Phe295Val	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000357901.4	37	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	-	14.82	2.650710	0.47362	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.18338	2.22;2.22	0.998	-1.72	0.08107	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13415	0.0325	L	0.33189	0.99	0.09310	N	1	B	0.28713	0.22	B	0.34652	0.187	T	0.35574	-0.9783	9	0.72032	D	0.01	.	6.5207	0.22272	0.0:0.4892:0.0:0.5108	.	295	Q8N8Z8	ZN441_HUMAN	V	251;295;228	ENSP00000350576:F295V;ENSP00000403738:F228V	ENSP00000350576:F295V	F	+	1	0	ZNF441	11752522	0.000000	0.05858	0.005000	0.12908	0.776000	0.43924	-0.479000	0.06567	-0.701000	0.05063	0.248000	0.18094	TTT		0.393	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355	
ZNF709	163051	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	12574914	12574914	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:12574914G>A	ENST00000397732.3	-	4	1993	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	ZNF709_ENST00000428311.1_Nonsense_Mutation_p.R608*|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	608					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						GTGTGAGTTCGTTCATGGATT	0.428																																					GBM(33;565 669 12371 29134 51667)	.											0													139.0	149.0	145.0					19																	12574914		2203	4300	6503	SO:0001587	stop_gained	163051			AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1822C>T	19.37:g.12574914G>A	ENSP00000380840:p.Arg608*	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4E6	Nonsense_Mutation	SNP	ENST00000397732.3	37	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	g	38	6.779989	0.97833	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	.	.	.	2.79	-0.572	0.11745	.	.	.	.	.	.	.	.	.	.	.	0.42414	D	0.992616	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.2002	0.15260	0.0:0.211:0.1661:0.6228	.	.	.	.	X	608	.	ENSP00000404127:R608X	R	-	1	2	ZNF709;CTD-2192J16.17	12435914	0.000000	0.05858	0.000000	0.03702	0.135000	0.20990	-0.742000	0.04850	-0.192000	0.10432	-1.077000	0.02231	CGA		0.428	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601	
BEST2	54831	broad.mit.edu	37	19	12865478	12865478	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:12865478C>T	ENST00000549706.1	+	4	684	c.360C>T	c.(358-360)cgC>cgT	p.R120R	BEST2_ENST00000553030.1_Silent_p.R120R|BEST2_ENST00000042931.1_Silent_p.R120R			Q8NFU1	BEST2_HUMAN	bestrophin 2	120					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GCGACGACCGCGGCCGCCTCT	0.697																																						.											0													11.0	12.0	12.0					19																	12865478		2086	4168	6254	SO:0001819	synonymous_variant	54831			AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17107	protein-coding gene	gene with protein product		607335	"""vitelliform macular dystrophy 2-like 1"""	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.360C>T	19.37:g.12865478C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q53YQ8|Q9NXP0	Silent	SNP	ENST00000549706.1	37	CCDS42506.1																																																																																				0.697	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1	NM_017682	
NFIX	4784	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	13183866	13183866	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:13183866G>A	ENST00000592199.1	+	3	565	c.565G>A	c.(565-567)Gga>Aga	p.G189R	NFIX_ENST00000587760.1_Missense_Mutation_p.G181R|NFIX_ENST00000360105.4_Missense_Mutation_p.G192R|AC007787.2_ENST00000588095.1_RNA|NFIX_ENST00000587260.1_Missense_Mutation_p.G188R|NFIX_ENST00000397661.2_Missense_Mutation_p.G189R|NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000358552.3_Missense_Mutation_p.G188R|NFIX_ENST00000588228.1_Missense_Mutation_p.G142R|NFIX_ENST00000585575.1_Missense_Mutation_p.G181R			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	189					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			TGCAGAATCCGGACAATCAGA	0.557																																						.											0													138.0	139.0	139.0					19																	13183866		2015	4165	6180	SO:0001583	missense	4784			U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.565G>A	19.37:g.13183866G>A	ENSP00000467512:p.Gly189Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Missense_Mutation	SNP	ENST00000592199.1	37		.	.	.	.	.	.	.	.	.	.	G	24.0	4.480896	0.84747	.	.	ENSG00000008441	ENST00000397661;ENST00000360105;ENST00000264825;ENST00000438869;ENST00000358552	T;T	0.45276	0.91;0.9	4.59	4.59	0.56863	CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.58864	0.2152	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0	T	0.59177	-0.7503	10	0.48119	T	0.1	.	14.6799	0.69009	0.0:0.0:1.0:0.0	.	197;188;192;189;189	B4DHW2;Q14938-5;F8W8H9;Q14938;Q14938-3	.;.;.;NFIX_HUMAN;.	R	189;189;192;142;188	ENSP00000380781:G189R;ENSP00000351354:G188R	ENSP00000264825:G192R	G	+	1	0	NFIX	13044866	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.228000	0.89789	2.280000	0.76307	0.462000	0.41574	GGA		0.557	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	NM_002501	
NACC1	112939	broad.mit.edu;bcgsc.ca	37	19	13248350	13248350	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:13248350C>T	ENST00000292431.4	+	5	1411	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	CTC-250I14.3_ENST00000591825.1_RNA	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	429	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						CGATCCCCGTCGGAAGCCCCT	0.652																																						.											0													17.0	17.0	17.0					19																	13248350		2199	4290	6489	SO:0001583	missense	112939			AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"""BEN domain containing"", ""BTB/POZ domain containing"""	20967	protein-coding gene	gene with protein product	"""nucleus accumbens associated 1"", ""BEN domain containing 8"""	610672	"""BTB (POZ) domain containing 14B"""	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.1285C>T	19.37:g.13248350C>T	ENSP00000292431:p.Arg429Trp	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000292431.4	37	CCDS12294.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097309	0.56075	.	.	ENSG00000160877	ENST00000292431	T	0.49139	0.79	4.33	4.33	0.51752	BEN domain (2);	0.061313	0.64402	D	0.000013	T	0.50240	0.1604	N	0.19112	0.55	0.47698	D	0.999499	D	0.89917	1.0	D	0.79784	0.993	T	0.54091	-0.8345	10	0.87932	D	0	.	9.6254	0.39748	0.2084:0.7916:0.0:0.0	.	429	Q96RE7	NACC1_HUMAN	W	429	ENSP00000292431:R429W	ENSP00000292431:R429W	R	+	1	2	NACC1	13109350	0.964000	0.33143	0.997000	0.53966	0.081000	0.17604	2.266000	0.43320	2.267000	0.75376	0.555000	0.69702	CGG		0.652	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1	NM_052876	
LPHN1	22859	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	14273936	14273936	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:14273936C>T	ENST00000340736.6	-	6	989	c.692G>A	c.(691-693)cGc>cAc	p.R231H	LPHN1_ENST00000591528.1_5'UTR|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.R226H|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	231	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GACGATGTTGCGCGTGCGCTC	0.622																																						.											0													145.0	100.0	115.0					19																	14273936		2203	4300	6503	SO:0001583	missense	22859			AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.692G>A	19.37:g.14273936C>T	ENSP00000340688:p.Arg231His	Somatic		WXS	Illumina HiSeq	Phase_I	Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983472	0.93044	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	D;D	0.90069	-2.61;-2.61	4.8	4.8	0.61643	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.93893	0.8046	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.94657	0.7844	10	0.87932	D	0	.	15.3705	0.74560	0.0:1.0:0.0:0.0	.	226;231	O94910-2;O94910	.;LPHN1_HUMAN	H	231;226	ENSP00000340688:R231H;ENSP00000355328:R226H	ENSP00000340688:R231H	R	-	2	0	LPHN1	14134936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.749000	0.85096	2.204000	0.70986	0.655000	0.94253	CGC		0.622	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921	
CYP4F3	4051	broad.mit.edu	37	19	15752327	15752327	+	Silent	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:15752327C>A	ENST00000221307.8	+	2	149	c.102C>A	c.(100-102)atC>atA	p.I34I	CYP4F3_ENST00000586182.2_Silent_p.I34I|CYP4F3_ENST00000585846.1_Silent_p.I34I|CYP4F3_ENST00000591058.1_Silent_p.I34I	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	34					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGGCCCGCATCCTGGCCTGGA	0.637																																						.											0													60.0	63.0	62.0					19																	15752327		2203	4300	6503	SO:0001819	synonymous_variant	4051			AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.102C>A	19.37:g.15752327C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z8Z3|O60634|Q5U740	Silent	SNP	ENST00000221307.8	37	CCDS12332.1																																																																																				0.637	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896	
AP1M1	8907	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	16345014	16345014	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:16345014G>A	ENST00000291439.3	+	11	1627	c.1178G>A	c.(1177-1179)cGc>cAc	p.R393H	AP1M1_ENST00000590756.1_Missense_Mutation_p.R321H|AP1M1_ENST00000429941.2_Missense_Mutation_p.R340H|AP1M1_ENST00000444449.2_Missense_Mutation_p.R405H|AP1M1_ENST00000541844.1_Missense_Mutation_p.R321H	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	393	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CCCCAGGTGCGCTACCTGAAG	0.647																																						.											0													63.0	56.0	58.0					19																	16345014		2203	4300	6503	SO:0001583	missense	8907				CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.1178G>A	19.37:g.16345014G>A	ENSP00000291439:p.Arg393His	Somatic		WXS	Illumina HiSeq	Phase_I	Q4TTY5	Missense_Mutation	SNP	ENST00000291439.3	37	CCDS12342.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657095	0.88154	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000541844;ENST00000429941	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	3.58	3.58	0.41010	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.48589	0.1508	M	0.93978	3.48	0.80722	D	1	D;P;P	0.57899	0.981;0.864;0.864	P;P;P	0.54312	0.748;0.458;0.458	T	0.66771	-0.5839	10	0.72032	D	0.01	-29.6875	14.7335	0.69399	0.0:0.0:1.0:0.0	.	340;405;393	E7ENJ6;Q4TTY5;Q9BXS5	.;.;AP1M1_HUMAN	H	405;393;321;340	ENSP00000388996:R405H;ENSP00000291439:R393H;ENSP00000445682:R321H;ENSP00000411498:R340H	ENSP00000291439:R393H	R	+	2	0	AP1M1	16206014	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.354000	0.97083	2.017000	0.59298	0.561000	0.74099	CGC		0.647	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493	
ZNF737	100129842	broad.mit.edu;mdanderson.org;bcgsc.ca	37	19	20735292	20735292	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:20735292G>A	ENST00000427401.4	-	3	309	c.215C>T	c.(214-216)gCc>gTc	p.A72V	CTC-513N18.7_ENST00000595094.1_lincRNA|ZNF737_ENST00000596797.1_Missense_Mutation_p.A72V	NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	72	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TGAGGGGTTGGCTACCATCTC	0.413																																						.											0													163.0	135.0	143.0					19																	20735292		692	1591	2283	SO:0001583	missense	100129842			BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.215C>T	19.37:g.20735292G>A	ENSP00000395733:p.Ala72Val	Somatic		WXS	Illumina HiSeq	Phase_I	C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	g	5.004	0.186380	0.09495	.	.	ENSG00000237440	ENST00000427401	T	0.06933	3.24	0.118	0.118	0.14667	.	.	.	.	.	T	0.11024	0.0269	L	0.43701	1.375	0.09310	N	1	P	0.40376	0.715	P	0.47827	0.558	T	0.26395	-1.0104	8	0.49607	T	0.09	.	.	.	.	.	72	C9JHM3	.	V	72	ENSP00000395733:A72V	ENSP00000395733:A72V	A	-	2	0	ZNF737	20527132	0.879000	0.30193	0.005000	0.12908	0.005000	0.04900	1.348000	0.33987	0.191000	0.20236	0.194000	0.17425	GCC		0.413	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289	
ANKRD27	84079	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	33137475	33137475	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:33137475G>A	ENST00000306065.4	-	4	418	c.260C>T	c.(259-261)gCc>gTc	p.A87V	ANKRD27_ENST00000587352.1_Missense_Mutation_p.A87V	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	87					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GAGAAGACAGGCAAAACCAGC	0.443																																						.											0													85.0	86.0	86.0					19																	33137475		2203	4300	6503	SO:0001583	missense	84079			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.260C>T	19.37:g.33137475G>A	ENSP00000304292:p.Ala87Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068697	0.76301	.	.	ENSG00000105186	ENST00000306065	T	0.62364	0.03	5.13	4.03	0.46877	.	0.390695	0.22004	N	0.065963	T	0.55721	0.1938	L	0.36672	1.1	0.27654	N	0.947297	P	0.44195	0.828	B	0.44163	0.443	T	0.56926	-0.7898	10	0.62326	D	0.03	-17.2719	13.01	0.58725	0.0:0.0:0.7561:0.2439	.	87	Q96NW4	ANR27_HUMAN	V	87	ENSP00000304292:A87V	ENSP00000304292:A87V	A	-	2	0	ANKRD27	37829315	0.776000	0.28616	1.000000	0.80357	0.998000	0.95712	1.745000	0.38278	2.409000	0.81822	0.545000	0.68477	GCC		0.443	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139	
KMT2B	9757	broad.mit.edu	37	19	36210431	36210431	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:36210431C>T	ENST00000222270.7	+	2	424	c.424C>T	c.(424-426)Cga>Tga	p.R142*	KMT2B_ENST00000420124.1_Nonsense_Mutation_p.R142*|KMT2B_ENST00000341701.1_Nonsense_Mutation_p.R142*|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	142					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CTCTGCGCTCCGATCCCAGCG	0.562																																						.											0													52.0	53.0	52.0					19																	36210431		1939	4139	6078	SO:0001587	stop_gained	8085			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.424C>T	19.37:g.36210431C>T	ENSP00000222270:p.Arg142*	Somatic		WXS	Illumina HiSeq	Phase_I	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Nonsense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350651	0.82132	.	.	ENSG00000105663	ENST00000222270;ENST00000420124;ENST00000341701	.	.	.	5.35	5.35	0.76521	.	0.000000	0.34828	N	0.003645	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6267	0.51149	0.1776:0.8223:0.0:0.0	.	.	.	.	X	142	.	ENSP00000222270:R142X	R	+	1	2	AD000671.1	40902271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.185000	0.58330	2.516000	0.84829	0.561000	0.74099	CGA		0.562	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	
WDR62	284403	broad.mit.edu	37	19	36592604	36592604	+	Missense_Mutation	SNP	G	G	A	rs370416793		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:36592604G>A	ENST00000270301.7	+	25	3010	c.3010G>A	c.(3010-3012)Gca>Aca	p.A1004T	WDR62_ENST00000401500.2_Missense_Mutation_p.A1004T			O43379	WDR62_HUMAN	WD repeat domain 62	1004					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTGCAGCTTCGCAGCCATCCA	0.667																																						.											0													21.0	17.0	18.0					19																	36592604		2051	3901	5952	SO:0001583	missense	284403			BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.3010G>A	19.37:g.36592604G>A	ENSP00000270301:p.Ala1004Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	G	8.541	0.873333	0.17322	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.45668	0.98;0.89	4.28	-6.24	0.02046	.	1.437660	0.03815	N	0.266608	T	0.17662	0.0424	N	0.04355	-0.22	0.21473	N	0.999679	B;B	0.13145	0.007;0.004	B;B	0.08055	0.003;0.001	T	0.14476	-1.0471	10	0.19590	T	0.45	-7.7739	6.9063	0.24311	0.5919:0.0:0.2839:0.1241	.	1004;1004	O43379-4;O43379	.;WDR62_HUMAN	T	1004	ENSP00000384792:A1004T;ENSP00000270301:A1004T	ENSP00000270301:A1004T	A	+	1	0	WDR62	41284444	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.504000	0.02275	-1.191000	0.02695	-0.825000	0.03093	GCA		0.667	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671	
ZNF569	148266	broad.mit.edu;ucsc.edu;mdanderson.org	37	19	37916858	37916858	+	Silent	SNP	C	C	T	rs534219621		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:37916858C>T	ENST00000316950.6	-	5	707	c.150G>A	c.(148-150)ccG>ccA	p.P50P	ZNF569_ENST00000392150.2_Intron|ZNF569_ENST00000392149.2_Silent_p.P50P|ZNF569_ENST00000592490.1_Intron|ZNF569_ENST00000589833.1_Silent_p.P74P|ZNF569_ENST00000591073.1_5'Flank	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	50	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTTTGGTGAACGGATAGCCTG	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		17935	0.0		0.0	False		,,,				2504	0.001					.											0													295.0	283.0	287.0					19																	37916858		2203	4300	6503	SO:0001819	synonymous_variant	148266			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.150G>A	19.37:g.37916858C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K1S2|Q15925|Q17RR6|Q96MQ2	Silent	SNP	ENST00000316950.6	37	CCDS12503.1																																																																																				0.443	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484	
MAP4K1	11184	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	39090577	39090577	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:39090577T>C	ENST00000591517.1	-	22	1685	c.1657A>G	c.(1657-1659)Atg>Gtg	p.M553V	MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000396857.2_Missense_Mutation_p.M553V|MAP4K1_ENST00000589130.1_Missense_Mutation_p.M549V|MAP4K1_ENST00000423454.2_Intron|CTB-186G2.1_ENST00000589557.1_RNA	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	553	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GAGAGAGACATGAGAACGTTG	0.587																																						.											0													138.0	143.0	142.0					19																	39090577		2053	4212	6265	SO:0001583	missense	11184			U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1657A>G	19.37:g.39090577T>C	ENSP00000465039:p.Met553Val	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000591517.1	37	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	.	14.30	2.494029	0.44352	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.04015	3.73	4.87	3.86	0.44501	Citron-like (3);	0.046500	0.85682	N	0.000000	T	0.06781	0.0173	L	0.58810	1.83	0.80722	D	1	B;B	0.21821	0.049;0.061	B;B	0.23574	0.028;0.047	T	0.11591	-1.0581	10	0.87932	D	0	.	8.1226	0.30980	0.0:0.093:0.0:0.907	.	553;553	Q92918-2;Q92918	.;M4K1_HUMAN	V	553	ENSP00000380066:M553V	ENSP00000221409:M553V	M	-	1	0	MAP4K1	43782417	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.078000	0.57606	0.907000	0.36646	0.454000	0.30748	ATG		0.587	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600	
FCGBP	8857	broad.mit.edu;mdanderson.org	37	19	40368741	40368741	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:40368741C>T	ENST00000221347.6	-	28	12614	c.12607G>A	c.(12607-12609)Gtg>Atg	p.V4203M		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4203	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGGAGCGTCACGTCTACCCGC	0.607																																						.											0													244.0	249.0	247.0					19																	40368741		2203	4300	6503	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12607G>A	19.37:g.40368741C>T	ENSP00000221347:p.Val4203Met	Somatic		WXS	Illumina HiSeq	Phase_I	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.742965	0.30865	.	.	ENSG00000090920	ENST00000221347	T	0.63255	-0.03	3.92	2.89	0.33648	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.78629	0.4313	M	0.88842	2.985	0.20563	N	0.99989	D	0.89917	1.0	D	0.68943	0.961	T	0.65442	-0.6167	9	0.72032	D	0.01	.	7.7633	0.28965	0.0:0.8163:0.0:0.1837	.	4203	Q9Y6R7	FCGBP_HUMAN	M	4203	ENSP00000221347:V4203M	ENSP00000221347:V4203M	V	-	1	0	FCGBP	45060581	0.000000	0.05858	0.865000	0.33974	0.018000	0.09664	-0.540000	0.06106	2.201000	0.70794	0.305000	0.20034	GTG		0.607	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
CNTD2	79935	broad.mit.edu;ucsc.edu;mdanderson.org	37	19	40730407	40730407	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:40730407G>A	ENST00000430325.2	-	3	549	c.501C>T	c.(499-501)tgC>tgT	p.C167C	CNTD2_ENST00000513948.1_Silent_p.C61C|CNTD2_ENST00000433940.1_Silent_p.C137C	NM_024877.3	NP_079153.2	Q9H8S5	CNTD2_HUMAN	cyclin N-terminal domain containing 2	167	Cyclin N-terminal.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					lung(1)|prostate(1)	2						CGGGAAGCACGCACTCTTCCA	0.592																																						.											0													178.0	196.0	190.0					19																	40730407		2203	4300	6503	SO:0001819	synonymous_variant	79935			AK023327	CCDS12551.1, CCDS12551.2	19q13.2	2014-07-03				ENSG00000105219			25805	protein-coding gene	gene with protein product	"""cyclin P"""					11237006	Standard	NM_024877		Approved	FLJ13265, CCNP	uc010xvi.2	Q9H8S5		ENST00000430325.2:c.501C>T	19.37:g.40730407G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DX65	Silent	SNP	ENST00000430325.2	37	CCDS12551.2																																																																																				0.592	CNTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360785.1	NM_024877	
CYP2B7P	1556	broad.mit.edu	37	19	41442033	41442033	+	RNA	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:41442033T>C	ENST00000599198.1	+	0	257					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						GTCTTCACGGTACACCTGGGA	0.542																																						.											0																																												1556																															19.37:g.41442033T>C		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP	ENST00000599198.1	37		.	.	.	.	.	.	.	.	.	.	T	14.25	2.480352	0.44044	.	.	ENSG00000256612	ENST00000541697	.	.	.	3.42	3.42	0.39159	.	0.503387	0.19908	N	0.103354	T	0.65883	0.2734	.	.	.	0.26187	N	0.979638	P;P	0.41041	0.736;0.49	P;P	0.52309	0.695;0.695	T	0.76929	-0.2777	7	0.87932	D	0	.	10.1479	0.42776	0.0:0.0:0.0:1.0	.	68;68	B6A7R5;Q14097	.;.	A	68	.	ENSP00000441190:V68A	V	+	2	0	AC008537.4	46133873	0.784000	0.28713	0.977000	0.42913	0.145000	0.21501	5.374000	0.66167	1.556000	0.49512	0.323000	0.21402	GTA		0.542	CYP2B7P1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000465180.1		
ZNF234	10780	broad.mit.edu;mdanderson.org;bcgsc.ca	37	19	44661482	44661482	+	Missense_Mutation	SNP	G	G	A	rs376364041		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:44661482G>A	ENST00000426739.2	+	6	1571	c.1313G>A	c.(1312-1314)cGt>cAt	p.R438H	ZNF234_ENST00000592437.1_Missense_Mutation_p.R438H	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	438					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AAAGCCTTCCGTCAGAGTTCA	0.413																																						.											0								G	HIS/ARG,HIS/ARG	0,4142		0,0,2071	60.0	61.0	61.0		1313,1313	2.8	0.4	19		61	1,8475		0,1,4237	no	missense,missense	ZNF234	NM_001144824.1,NM_006630.2	29,29	0,1,6308	AA,AG,GG		0.0118,0.0,0.0079	probably-damaging,probably-damaging	438/701,438/701	44661482	1,12617	2071	4238	6309	SO:0001583	missense	10780			X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1313G>A	19.37:g.44661482G>A	ENSP00000400878:p.Arg438His	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996673	0.54147	0.0	1.18E-4	ENSG00000167380	ENST00000426739	T	0.07567	3.18	3.94	2.8	0.32819	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15132	0.0365	L	0.46157	1.445	0.09310	N	1	D	0.65815	0.995	P	0.55545	0.778	T	0.07271	-1.0781	9	0.41790	T	0.15	.	10.4269	0.44385	0.0:0.0:0.8053:0.1947	.	438	Q14588	ZN234_HUMAN	H	438	ENSP00000400878:R438H	ENSP00000400878:R438H	R	+	2	0	ZNF226	49353322	0.001000	0.12720	0.393000	0.26258	0.996000	0.88848	0.825000	0.27393	2.192000	0.70111	0.591000	0.81541	CGT		0.413	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2		
CEACAM16	388551	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	45207383	45207383	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:45207383G>A	ENST00000405314.2	+	3	575	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	CEACAM16_ENST00000587331.1_Missense_Mutation_p.A160T|CTB-171A8.1_ENST00000590796.1_RNA			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	160	Ig-like C2-type 1.				sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CAGCCCCACCGCCGAGGTCCG	0.697																																						.											0													11.0	15.0	13.0					19																	45207383		1958	4115	6073	SO:0001583	missense	388551				CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.478G>A	19.37:g.45207383G>A	ENSP00000385576:p.Ala160Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A7LI12	Missense_Mutation	SNP	ENST00000405314.2	37	CCDS54278.1	.	.	.	.	.	.	.	.	.	.	G	5.932	0.355948	0.11239	.	.	ENSG00000213892	ENST00000396750;ENST00000405314	T	0.12465	2.68	5.64	4.6	0.57074	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.298565	0.17891	U	0.158524	T	0.11707	0.0285	N	0.17764	0.52	0.09310	N	1	D	0.63046	0.992	P	0.50570	0.644	T	0.08472	-1.0720	10	0.09590	T	0.72	-17.3407	10.5959	0.45338	0.0888:0.0:0.9112:0.0	.	219	Q2WEN9	CEA16_HUMAN	T	225;160	ENSP00000385576:A160T	ENSP00000379974:A225T	A	+	1	0	CEACAM16	49899223	0.611000	0.26992	0.104000	0.21259	0.023000	0.10783	4.896000	0.63222	1.520000	0.48965	0.561000	0.74099	GCC		0.697	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		XM_371177	
BCL3	602	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	45262838	45262838	+	Missense_Mutation	SNP	C	C	T	rs377071242		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:45262838C>T	ENST00000164227.5	+	9	1575	c.1331C>T	c.(1330-1332)cCg>cTg	p.P444L		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	444	Pro/Ser-rich.				antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.P436Q(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CCTGGCCGGCCGGTGCCCCCC	0.682			T	IGH@	CLL								C|||	1	0.000199681	0.0	0.0	5008	,	,		12004	0.001		0.0	False		,,,				2504	0.0					.		Dom	yes		19	19q13	602	B-cell CLL/lymphoma 3		L	1	Substitution - Missense(1)	ovary(1)						C	LEU/PRO	0,4404		0,0,2202	34.0	43.0	40.0		1331	4.6	1.0	19		40	2,8588		0,2,4293	no	missense	BCL3	NM_005178.4	98	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	444/455	45262838	2,12992	2202	4295	6497	SO:0001583	missense	602			M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"""Ankyrin repeat domain containing"""	998	protein-coding gene	gene with protein product	"""B-cell lymphoma 3-encoded protein"", ""B-cell leukemia/lymphoma 3"", ""chronic lymphatic leukemia protein"""	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.1331C>T	19.37:g.45262838C>T	ENSP00000164227:p.Pro444Leu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000164227.5	37	CCDS12642.2	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456786	0.63401	0.0	2.33E-4	ENSG00000069399	ENST00000164227	T	0.47869	0.83	4.64	4.64	0.57946	.	0.000000	0.42548	D	0.000681	T	0.55847	0.1946	L	0.27053	0.805	0.47584	D	0.999465	D	0.89917	1.0	D	0.81914	0.995	T	0.61227	-0.7105	10	0.72032	D	0.01	-22.3929	14.9891	0.71371	0.0:1.0:0.0:0.0	.	444	P20749	BCL3_HUMAN	L	444	ENSP00000164227:P444L	ENSP00000164227:P444L	P	+	2	0	BCL3	49954678	0.975000	0.34042	0.968000	0.41197	0.951000	0.60555	2.622000	0.46427	2.115000	0.64714	0.491000	0.48974	CCG		0.682	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178	
PVRL2	5819	broad.mit.edu	37	19	45375403	45375403	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:45375403C>T	ENST00000252483.5	+	3	772	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C	PVRL2_ENST00000252485.4_Missense_Mutation_p.R258C	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	258					acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)	p.R258C(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CCTCTCTGTACGCTGTGAGTG	0.557																																						.											1	Substitution - Missense(1)	large_intestine(1)											160.0	118.0	132.0					19																	45375403		2203	4300	6503	SO:0001583	missense	5819			X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.772C>T	19.37:g.45375403C>T	ENSP00000252483:p.Arg258Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5L5|O75455|Q6IBI6|Q96J29	Missense_Mutation	SNP	ENST00000252483.5	37	CCDS42576.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.172643	0.57584	.	.	ENSG00000130202	ENST00000252483;ENST00000252485	T;T	0.15487	2.42;2.42	4.25	3.15	0.36227	Immunoglobulin-like fold (1);	0.000000	0.49305	D	0.000142	T	0.36138	0.0956	M	0.79475	2.455	0.47441	D	0.999425	D;D	0.89917	1.0;1.0	P;D	0.65987	0.872;0.94	T	0.14643	-1.0465	10	0.72032	D	0.01	.	8.3414	0.32245	0.254:0.746:0.0:0.0	.	258;258	Q92692;Q92692-2	PVRL2_HUMAN;.	C	258	ENSP00000252483:R258C;ENSP00000252485:R258C	ENSP00000252483:R258C	R	+	1	0	PVRL2	50067243	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	2.396000	0.44468	2.190000	0.69967	0.561000	0.74099	CGC		0.557	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856	
RSPH6A	81492	broad.mit.edu;ucsc.edu	37	19	46308230	46308230	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:46308230G>A	ENST00000221538.3	-	3	1075	c.933C>T	c.(931-933)ttC>ttT	p.F311F	RSPH6A_ENST00000597055.1_Silent_p.F311F|RSPH6A_ENST00000600188.1_Silent_p.F47F	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	311						intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CGGCCTGCTCGAAGTAGAAGG	0.617																																						.											0													46.0	43.0	44.0					19																	46308230		2203	4300	6503	SO:0001819	synonymous_variant	81492			AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.933C>T	19.37:g.46308230G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q53FE2|Q6PEZ9	Silent	SNP	ENST00000221538.3	37	CCDS12675.1																																																																																				0.617	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1		
SIGLEC16	400709	broad.mit.edu	37	19	50475120	50475120	+	RNA	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:50475120C>T	ENST00000602139.1	+	0	1066							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|lung(6)	10						ACCTGAGGAACGGCACATCCC	0.652																																						.											0																																												400709			BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50475120C>T		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP	ENST00000602139.1	37																																																																																					0.652	SIGLEC16-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464979.1	NR_002825	
ZNF473	25888	broad.mit.edu;ucsc.edu;mdanderson.org	37	19	50548036	50548036	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:50548036C>T	ENST00000595661.1	+	6	831	c.336C>T	c.(334-336)ttC>ttT	p.F112F	CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Silent_p.F112F|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Silent_p.F100F|ZNF473_ENST00000391821.2_Silent_p.F112F			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	112					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		ACTCCAATTTCGGAGAAGCCT	0.473																																						.											0													64.0	64.0	64.0					19																	50548036		2203	4300	6503	SO:0001819	synonymous_variant	25888			AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.336C>T	19.37:g.50548036C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K8T7|Q9ULS9|Q9Y4Q7	Silent	SNP	ENST00000595661.1	37	CCDS33077.1																																																																																				0.473	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390	
LRRC4B	94030	broad.mit.edu	37	19	51021776	51021776	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:51021776C>T	ENST00000599957.1	-	3	1391	c.1194G>A	c.(1192-1194)acG>acA	p.T398T	LRRC4B_ENST00000389201.3_Silent_p.T398T			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	398	Ig-like C2-type.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TGCCGTTGGGCGTCAGCCAGT	0.647																																						.											0													61.0	71.0	68.0					19																	51021776		2190	4279	6469	SO:0001819	synonymous_variant	94030			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1194G>A	19.37:g.51021776C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q3ZCQ4|Q58F20	Silent	SNP	ENST00000599957.1	37	CCDS42595.1																																																																																				0.647	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457	
ZNF616	90317	broad.mit.edu;mdanderson.org	37	19	52619951	52619951	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:52619951T>C	ENST00000600228.1	-	4	727	c.466A>G	c.(466-468)Act>Gct	p.T156A	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	156					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CTCCCTTCAGTTTGAACTTTC	0.363																																						.											0													161.0	148.0	153.0					19																	52619951		2202	4300	6502	SO:0001583	missense	90317			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.466A>G	19.37:g.52619951T>C	ENSP00000471000:p.Thr156Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.723677	0.48728	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.57	0.191	0.15130	.	.	.	.	.	T	0.49729	0.1574	M	0.75264	2.295	0.23727	N	0.997009	P	0.45569	0.861	P	0.51701	0.677	T	0.38001	-0.9681	8	0.45353	T	0.12	.	6.4896	0.22107	0.0:0.0:0.2421:0.7579	.	156	Q08AN1	ZN616_HUMAN	A	156	.	ENSP00000328722:T156A	T	-	1	0	ZNF616	57311763	0.000000	0.05858	0.011000	0.14972	0.036000	0.12997	0.067000	0.14510	0.701000	0.31803	0.254000	0.18369	ACT		0.363	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892	
ZNF534	147658	broad.mit.edu	37	19	52941908	52941908	+	Nonsense_Mutation	SNP	C	C	T	rs199880338		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:52941908C>T	ENST00000332323.6	+	4	1295	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Nonsense_Mutation_p.R399*|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	412					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						ACGCCTTGCACGACATAGGAA	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		23868	0.0		0.0	False		,,,				2504	0.001					.											0								C	stop/ARG,stop/ARG	0,1384		0,0,692	87.0	79.0	81.0		1195,1234	-2.5	0.0	19		81	1,3181		0,1,1590	no	stop-gained,stop-gained	ZNF534	NM_001143938.1,NM_001143939.1	,	0,1,2282	TT,TC,CC		0.0314,0.0,0.0219	,	399/662,412/675	52941908	1,4565	692	1591	2283	SO:0001587	stop_gained	147658			AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1234C>T	19.37:g.52941908C>T	ENSP00000327538:p.Arg412*	Somatic		WXS	Illumina HiSeq	Phase_I	Q76KX9	Nonsense_Mutation	SNP	ENST00000332323.6	37	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450957	0.43531	0.0	3.14E-4	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	.	.	.	1.76	-2.52	0.06346	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	0.327	0.00312	0.1935:0.2786:0.1922:0.3357	.	.	.	.	X	412;399;411	.	ENSP00000327538:R412X	R	+	1	2	ZNF534	57633720	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-9.090000	0.00014	-0.646000	0.05452	0.411000	0.27672	CGA		0.423	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512	
KIR3DL3	115653	broad.mit.edu;mdanderson.org;bcgsc.ca	37	19	55239156	55239156	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:55239156G>A	ENST00000291860.1	+	4	453	c.435G>A	c.(433-435)tgG>tgA	p.W145*	KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	145	Ig-like C2-type 2. {ECO:0000305}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TGCAATGTTGGTCAGATGTCA	0.572																																						.											0													30.0	24.0	26.0					19																	55239156		1948	3303	5251	SO:0001587	stop_gained	115653			AF352324	CCDS12903.1	19q13.4	2014-05-22			ENSG00000242019	ENSG00000242019		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16312	protein-coding gene	gene with protein product		610095				11513144	Standard	NM_153443		Approved	KIRC1, KIR3DL7, KIR44, CD158z	uc002qgu.1	Q8N743	OTTHUMG00000065884	ENST00000291860.1:c.435G>A	19.37:g.55239156G>A	ENSP00000291860:p.Trp145*	Somatic		WXS	Illumina HiSeq	Phase_I	A9PL62|A9PL64|A9PL65|A9PL66|A9PL67|A9PL68|A9PZV4|A9PZV7|A9PZV8|A9Q066|A9Q0R5|A9Q242|A9Q250|A9Q251|O95056|Q1X775|Q1X777|Q1X778|Q1X779|Q1X780|Q1X781|Q1X782|Q1X783|Q7Z7N4|Q8NHI2|Q8NHI3|Q9UEI4	Nonsense_Mutation	SNP	ENST00000291860.1	37	CCDS12903.1	.	.	.	.	.	.	.	.	.	.	N	11.70	1.716055	0.30413	.	.	ENSG00000242019	ENST00000291860	.	.	.	1.38	-2.75	0.05914	.	1.619910	0.04495	U	0.380315	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.4034	0.07332	0.0:0.3197:0.4555:0.2248	.	.	.	.	X	145	.	ENSP00000291860:W145X	W	+	3	0	KIR3DL3	59930968	0.001000	0.12720	0.000000	0.03702	0.051000	0.14879	-0.574000	0.05868	-0.726000	0.04895	0.205000	0.17691	TGG		0.572	KIR3DL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141147.1	NM_153443	
SSC5D	284297	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	56024455	56024455	+	Missense_Mutation	SNP	G	G	A	rs201884176		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:56024455G>A	ENST00000389623.6	+	13	2886	c.2863G>A	c.(2863-2865)Gca>Aca	p.A955T		NM_001144950.1	NP_001138422.1	A1L4H1	SRCRL_HUMAN	scavenger receptor cysteine rich family, 5 domains	955					defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterial lipoprotein (GO:0042494)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of interleukin-8 secretion (GO:2000483)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|intracellular (GO:0005622)|membrane (GO:0016020)	extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|skin(2)	4						GACCCCTACCGCAGGCAAACT	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		16562	0.0		0.0	False		,,,				2504	0.001					.											0													41.0	44.0	43.0					19																	56024455		692	1591	2283	SO:0001583	missense	284297				CCDS46196.1, CCDS59424.1	19q13.42	2014-07-09	2014-07-09		ENSG00000179954	ENSG00000179954			26641	protein-coding gene	gene with protein product	"""soluble scavenger with 5 domains"""		"""scavenger receptor cysteine rich domain containing (5 domains)"""			19535143	Standard	NM_001144950		Approved	FLJ35258	uc002qlg.4	A1L4H1		ENST00000389623.6:c.2863G>A	19.37:g.56024455G>A	ENSP00000374274:p.Ala955Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B5MDQ5|C7S7T9|C7S7U0|K7EP70	Missense_Mutation	SNP	ENST00000389623.6	37	CCDS46196.1	.	.	.	.	.	.	.	.	.	.	G	5.200	0.222441	0.09863	.	.	ENSG00000179954	ENST00000389623	T	0.01258	5.09	3.13	-4.83	0.03161	.	.	.	.	.	T	0.00784	0.0026	N	0.13003	0.285	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.47446	-0.9117	9	0.28530	T	0.3	.	1.1732	0.01829	0.4551:0.1584:0.2264:0.1602	.	955	A1L4H1	SRCRL_HUMAN	T	955	ENSP00000374274:A955T	ENSP00000374274:A955T	A	+	1	0	SSC5D	60716267	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.493000	0.06459	-1.022000	0.03346	-1.106000	0.02097	GCA		0.592	SSC5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453345.2	XM_001718392	
SSC5D	284297	broad.mit.edu	37	19	56024481	56024481	+	Silent	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:56024481G>T	ENST00000389623.6	+	13	2912	c.2889G>T	c.(2887-2889)ggG>ggT	p.G963G		NM_001144950.1	NP_001138422.1	A1L4H1	SRCRL_HUMAN	scavenger receptor cysteine rich family, 5 domains	963					defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterial lipoprotein (GO:0042494)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of interleukin-8 secretion (GO:2000483)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|intracellular (GO:0005622)|membrane (GO:0016020)	extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|skin(2)	4						CAACTCTTGGGGCTGGCACCA	0.602																																						.											0													39.0	42.0	41.0					19																	56024481		692	1591	2283	SO:0001819	synonymous_variant	284297				CCDS46196.1, CCDS59424.1	19q13.42	2014-07-09	2014-07-09		ENSG00000179954	ENSG00000179954			26641	protein-coding gene	gene with protein product	"""soluble scavenger with 5 domains"""		"""scavenger receptor cysteine rich domain containing (5 domains)"""			19535143	Standard	NM_001144950		Approved	FLJ35258	uc002qlg.4	A1L4H1		ENST00000389623.6:c.2889G>T	19.37:g.56024481G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B5MDQ5|C7S7T9|C7S7U0|K7EP70	Silent	SNP	ENST00000389623.6	37	CCDS46196.1																																																																																				0.602	SSC5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453345.2	XM_001718392	
ZIM3	114026	broad.mit.edu	37	19	57647366	57647366	+	Silent	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:57647366A>G	ENST00000269834.1	-	5	724	c.339T>C	c.(337-339)acT>acC	p.T113T	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	113					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTTCTGCGTAGTCAGCGTTT	0.413																																						.											0													203.0	197.0	199.0					19																	57647366		2203	4300	6503	SO:0001819	synonymous_variant	114026			AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.339T>C	19.37:g.57647366A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q14CA6	Silent	SNP	ENST00000269834.1	37	CCDS33125.1																																																																																				0.413	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1		
ZNF773	374928	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	58017797	58017797	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:58017797G>A	ENST00000282292.4	+	4	474	c.334G>A	c.(334-336)Gtt>Att	p.V112I	ZNF773_ENST00000598770.1_Missense_Mutation_p.V111I|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	112					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		CAGTTCAAACGTTCAGCAACA	0.488																																						.											0													94.0	96.0	95.0					19																	58017797		2203	4300	6503	SO:0001583	missense	374928			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.334G>A	19.37:g.58017797G>A	ENSP00000282292:p.Val112Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	37	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	G	5.699	0.313462	0.10789	.	.	ENSG00000152439	ENST00000282292	T	0.05855	3.38	1.25	-1.2	0.09554	.	.	.	.	.	T	0.02767	0.0083	N	0.11560	0.145	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.0	T	0.44112	-0.9349	9	0.49607	T	0.09	.	0.4362	0.00479	0.2328:0.3037:0.2641:0.1993	.	111;112	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	I	112	ENSP00000282292:V112I	ENSP00000282292:V112I	V	+	1	0	ZNF773	62709609	0.000000	0.05858	0.001000	0.08648	0.366000	0.29705	-1.381000	0.02549	-0.307000	0.08804	0.313000	0.20887	GTT		0.488	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542	
GDF7	151449	broad.mit.edu	37	2	20871061	20871061	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:20871061C>T	ENST00000272224.3	+	2	1805	c.1229C>T	c.(1228-1230)gCg>gTg	p.A410V		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	410					activin receptor signaling pathway (GO:0032924)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching morphogenesis of an epithelial tube (GO:0048754)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|forebrain morphogenesis (GO:0048853)|gland morphogenesis (GO:0022612)|growth (GO:0040007)|midbrain development (GO:0030901)|morphogenesis of an epithelial fold (GO:0060571)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of tendon cell differentiation (GO:2001051)|positive regulation of transcription, DNA-templated (GO:0045893)|reproductive structure development (GO:0048608)|roof plate formation (GO:0021509)|spinal cord association neuron differentiation (GO:0021527)	extracellular space (GO:0005615)				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGACGCGGCGCCGGCCTCC	0.612																																						.											0													65.0	58.0	60.0					2																	20871061		2203	4300	6503	SO:0001583	missense	151449			AF522369	CCDS1701.1	2p24.1	2008-05-22			ENSG00000143869	ENSG00000143869			4222	protein-coding gene	gene with protein product		604651				10022976, 9808626	Standard	NM_182828		Approved	BMP12	uc002rdz.1	Q7Z4P5	OTTHUMG00000090781	ENST00000272224.3:c.1229C>T	2.37:g.20871061C>T	ENSP00000272224:p.Ala410Val	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000272224.3	37	CCDS1701.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827491	0.90955	.	.	ENSG00000143869	ENST00000272224	T	0.61742	0.08	4.05	4.05	0.47172	Transforming growth factor-beta, C-terminal (3);	0.105770	0.39341	U	0.001385	T	0.26810	0.0656	N	0.00424	-1.51	0.37148	D	0.902031	P	0.51147	0.942	B	0.41691	0.364	T	0.57323	-0.7831	10	0.51188	T	0.08	.	16.7259	0.85421	0.0:1.0:0.0:0.0	.	410	Q7Z4P5	GDF7_HUMAN	V	410	ENSP00000272224:A410V	ENSP00000272224:A410V	A	+	2	0	GDF7	20734542	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.781000	0.62389	2.187000	0.69744	0.561000	0.74099	GCG		0.612	GDF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207563.2	NM_182828	
CRIM1	51232	broad.mit.edu	37	2	36691711	36691711	+	Missense_Mutation	SNP	G	G	A	rs373577546		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:36691711G>A	ENST00000280527.2	+	5	1271	c.904G>A	c.(904-906)Gtg>Atg	p.V302M		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	302					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TGGTTTCCCCGTGTGTGAGGT	0.493																																						.											0								G	MET/VAL	0,4406		0,0,2203	261.0	236.0	244.0		904	2.8	1.0	2		244	1,8599	1.2+/-3.3	0,1,4299	no	missense	CRIM1	NM_016441.2	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	302/1037	36691711	1,13005	2203	4300	6503	SO:0001583	missense	51232			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.904G>A	2.37:g.36691711G>A	ENSP00000280527:p.Val302Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030171	0.35797	0.0	1.16E-4	ENSG00000150938	ENST00000280527;ENST00000426856	T	0.04360	3.64	5.94	2.83	0.33086	.	0.346611	0.29172	N	0.012927	T	0.03305	0.0096	N	0.19112	0.55	0.29209	N	0.874718	B	0.13594	0.008	B	0.09377	0.004	T	0.24799	-1.0150	10	0.44086	T	0.13	-3.1507	7.1527	0.25620	0.3699:0.0:0.6301:0.0	.	302	Q9NZV1	CRIM1_HUMAN	M	302;194	ENSP00000280527:V302M	ENSP00000280527:V302M	V	+	1	0	CRIM1	36545215	0.996000	0.38824	1.000000	0.80357	0.999000	0.98932	0.549000	0.23329	0.861000	0.35504	0.650000	0.86243	GTG		0.493	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441	
PPM1B	5495	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	44428691	44428691	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:44428691G>A	ENST00000282412.4	+	2	765	c.353G>A	c.(352-354)cGt>cAt	p.R118H	PPM1B_ENST00000409895.4_Missense_Mutation_p.R118H|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000378551.2_Missense_Mutation_p.R118H|PPM1B_ENST00000409432.3_Missense_Mutation_p.R118H	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	118					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GAATACATGCGTAACTTTTCA	0.398																																						.											0													121.0	121.0	121.0					2																	44428691		2203	4300	6503	SO:0001583	missense	5495			AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.353G>A	2.37:g.44428691G>A	ENSP00000282412:p.Arg118His	Somatic		WXS	Illumina HiSeq	Phase_I	Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Missense_Mutation	SNP	ENST00000282412.4	37	CCDS1817.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802576	0.70682	.	.	ENSG00000138032	ENST00000419807;ENST00000409895;ENST00000409432;ENST00000282412;ENST00000378551;ENST00000409473	T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2	5.71	5.71	0.89125	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.50769	0.1635	M	0.83774	2.66	0.80722	D	1	P;P;D;P;B	0.89917	0.725;0.455;1.0;0.535;0.336	B;B;D;B;B	0.68192	0.162;0.043;0.956;0.179;0.298	T	0.43507	-0.9387	10	0.32370	T	0.25	-15.4016	19.8632	0.96793	0.0:0.0:1.0:0.0	.	118;118;118;118;118	Q4J6C0;O75688-2;Q4J6C1;O75688;Q4J6C2	.;.;.;PPM1B_HUMAN;.	H	118	ENSP00000390087:R118H;ENSP00000387341:R118H;ENSP00000387287:R118H;ENSP00000282412:R118H;ENSP00000367813:R118H;ENSP00000386982:R118H	ENSP00000282412:R118H	R	+	2	0	PPM1B	44282195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.699000	0.92147	0.655000	0.94253	CGT		0.398	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	NM_002706	
SPTBN1	6711	broad.mit.edu	37	2	54876812	54876812	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:54876812G>A	ENST00000356805.4	+	26	5544	c.5263G>A	c.(5263-5265)Gtg>Atg	p.V1755M	SPTBN1_ENST00000333896.5_Missense_Mutation_p.V1742M	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1755	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GCAGGAGCGCGTGGACACGGT	0.552																																						.											0													66.0	64.0	65.0					2																	54876812		2203	4300	6503	SO:0001583	missense	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.5263G>A	2.37:g.54876812G>A	ENSP00000349259:p.Val1755Met	Somatic		WXS	Illumina HiSeq	Phase_I	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395228	0.83011	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.58210	0.35;0.35	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.79353	0.4431	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.932;0.998	T	0.83200	-0.0079	10	0.87932	D	0	.	19.632	0.95713	0.0:0.0:1.0:0.0	.	1742;1755	Q01082-3;Q01082	.;SPTB2_HUMAN	M	1755;1742	ENSP00000349259:V1755M;ENSP00000334156:V1742M	ENSP00000334156:V1742M	V	+	1	0	SPTBN1	54730316	1.000000	0.71417	0.965000	0.40720	0.463000	0.32649	9.747000	0.98863	2.647000	0.89833	0.555000	0.69702	GTG		0.552	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3		
RTN4	57142	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	55254295	55254295	+	Missense_Mutation	SNP	C	C	T	rs144622313		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:55254295C>T	ENST00000337526.6	-	3	1183	c.940G>A	c.(940-942)Gta>Ata	p.V314I	RTN4_ENST00000357732.4_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.V108I|RTN4_ENST00000357376.3_Missense_Mutation_p.V108I|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000405240.1_Missense_Mutation_p.V108I|RTN4_ENST00000354474.6_Missense_Mutation_p.V82I|RTN4_ENST00000404909.1_Missense_Mutation_p.V108I	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	314					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						GCTACTATTACGGCAGATTCT	0.333													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21464	0.0		0.0	False		,,,				2504	0.0					.											0								C	ILE/VAL,,,ILE/VAL	4,4402	8.1+/-20.4	0,4,2199	90.0	88.0	89.0		940,,,322	-12.0	0.0	2	dbSNP_134	89	10,8588	7.7+/-29.5	0,10,4289	yes	missense,intron,intron,missense	RTN4	NM_020532.4,NM_153828.2,NM_207520.1,NM_207521.1	29,,,29	0,14,6488	TT,TC,CC		0.1163,0.0908,0.1077	benign,,,benign	314/1193,,,108/987	55254295	14,12990	2203	4299	6502	SO:0001583	missense	57142			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.940G>A	2.37:g.55254295C>T	ENSP00000337838:p.Val314Ile	Somatic		WXS	Illumina HiSeq	Phase_I	O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	CCDS42684.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	0.003	-2.572382	0.00133	9.08E-4	0.001163	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.16897	2.32;2.32;2.31;2.32;2.32;2.31	6.02	-12.0	0.00017	.	1.724100	0.02202	N	0.062322	T	0.05318	0.0141	N	0.02391	-0.57	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.43702	-0.9375	10	0.02654	T	1	2.7456	15.2947	0.73894	0.1131:0.6214:0.0:0.2655	.	314	Q9NQC3	RTN4_HUMAN	I	108;108;314;108;108;82	ENSP00000384471:V108I;ENSP00000349944:V108I;ENSP00000337838:V314I;ENSP00000378109:V108I;ENSP00000385650:V108I;ENSP00000346465:V82I	ENSP00000337838:V314I	V	-	1	0	RTN4	55107799	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.135000	0.03225	-1.910000	0.01083	-1.929000	0.00512	GTA		0.333	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1		
DYSF	8291	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	71887760	71887760	+	Missense_Mutation	SNP	C	C	T	rs144383140		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:71887760C>T	ENST00000258104.3	+	44	5142	c.4865C>T	c.(4864-4866)aCg>aTg	p.T1622M	DYSF_ENST00000413539.2_Missense_Mutation_p.T1653M|DYSF_ENST00000410041.1_Missense_Mutation_p.T1640M|DYSF_ENST00000409744.1_Missense_Mutation_p.T1630M|DYSF_ENST00000409762.1_Missense_Mutation_p.T1639M|DYSF_ENST00000394120.2_Missense_Mutation_p.T1623M|DYSF_ENST00000429174.2_Missense_Mutation_p.T1643M|DYSF_ENST00000409582.3_Missense_Mutation_p.T1660M|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Missense_Mutation_p.T1654M|DYSF_ENST00000410020.3_Missense_Mutation_p.T1661M|DYSF_ENST00000409366.1_Missense_Mutation_p.T1644M	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1622	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ATCCCCTGCACGCTGGAGCCC	0.502																																						.											0								C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	145.0	128.0	134.0		4868,4823,4886,4928,4958,4916,4979,4961,4931,4889,4919,4826,4982,4865	5.8	1.0	2	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	DYSF	NM_001130455.1,NM_001130976.1,NM_001130977.1,NM_001130978.1,NM_001130979.1,NM_001130980.1,NM_001130981.1,NM_001130982.1,NM_001130983.1,NM_001130984.1,NM_001130985.1,NM_001130986.1,NM_001130987.1,NM_003494.3	81,81,81,81,81,81,81,81,81,81,81,81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1623/2082,1608/2067,1629/2088,1643/2102,1653/2112,1639/2098,1660/2119,1654/2113,1644/2103,1630/2089,1640/2099,1609/2068,1661/2120,1622/2081	71887760	1,13005	2203	4300	6503	SO:0001583	missense	8291			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4865C>T	2.37:g.71887760C>T	ENSP00000258104:p.Thr1622Met	Somatic		WXS	Illumina HiSeq	Phase_I	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677535	0.88445	0.0	1.16E-4	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.78	5.78	0.91487	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.245141	0.47455	D	0.000231	T	0.78027	0.4219	H	0.97186	3.955	0.58432	D	0.999996	D;P;P;D;D;D;D;D;D;P;P;P;D;D;D	0.69078	0.99;0.924;0.924;0.992;0.985;0.979;0.997;0.979;0.997;0.924;0.79;0.921;0.972;0.985;0.988	P;P;P;P;P;P;P;P;P;P;P;P;P;P;P	0.61722	0.893;0.525;0.65;0.809;0.809;0.657;0.888;0.657;0.888;0.525;0.65;0.496;0.809;0.809;0.88	D	0.85230	0.1032	10	0.72032	D	0.01	-23.1535	17.5763	0.87950	0.0:1.0:0.0:0.0	.	386;1654;1661;1644;1609;1640;1630;1639;1629;1653;1660;1643;1608;1623;1622	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	M	1653;1639;1660;1643;1622;1654;1623;1630;1644;1661;1640	ENSP00000407046:T1653M;ENSP00000387137:T1639M;ENSP00000386547:T1660M;ENSP00000398305:T1643M;ENSP00000258104:T1622M;ENSP00000386683:T1654M;ENSP00000377678:T1623M;ENSP00000386285:T1630M;ENSP00000386512:T1644M;ENSP00000386881:T1661M;ENSP00000386617:T1640M	ENSP00000258104:T1622M	T	+	2	0	DYSF	71741268	1.000000	0.71417	0.963000	0.40424	0.939000	0.58152	5.958000	0.70330	2.754000	0.94517	0.549000	0.68633	ACG		0.502	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	
TET3	200424	broad.mit.edu;ucsc.edu;mdanderson.org	37	2	74327959	74327959	+	Silent	SNP	C	C	T	rs530077169	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:74327959C>T	ENST00000409262.3	+	9	3639	c.3639C>T	c.(3637-3639)gaC>gaT	p.D1213D		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1213					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTCCCACAGACGCCCACCACC	0.642													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		17802	0.0		0.0	False		,,,				2504	0.0					.											0													19.0	23.0	22.0					2																	74327959		2078	4211	6289	SO:0001819	synonymous_variant	200424				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.3639C>T	2.37:g.74327959C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	ENST00000409262.3	37	CCDS46339.1																																																																																				0.642	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4		
LYG2	254773	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	99860551	99860551	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:99860551T>C	ENST00000409238.1	-	4	451	c.431A>G	c.(430-432)cAc>cGc	p.H144R	LYG2_ENST00000423800.1_Missense_Mutation_p.H144R|LYG2_ENST00000333017.2_Missense_Mutation_p.H144R|LYG2_ENST00000409679.1_Missense_Mutation_p.H144R			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	144					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						CTGTGAAAGGTGCTCTTTGCT	0.433																																						.											0													100.0	94.0	96.0					2																	99860551		2203	4300	6503	SO:0001583	missense	254773			AF323919	CCDS2042.1	2q11.2	2008-02-05			ENSG00000185674	ENSG00000185674			29615	protein-coding gene	gene with protein product						8889548, 12574869	Standard	NM_175735		Approved	LYGH	uc002szw.1	Q86SG7	OTTHUMG00000130643	ENST00000409238.1:c.431A>G	2.37:g.99860551T>C	ENSP00000386939:p.His144Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q496G2|Q53RW0	Missense_Mutation	SNP	ENST00000409238.1	37	CCDS2042.1	.	.	.	.	.	.	.	.	.	.	T	14.62	2.588887	0.46110	.	.	ENSG00000185674	ENST00000409238;ENST00000333017;ENST00000409679;ENST00000423306	.	.	.	5.58	5.58	0.84498	Lytic transglycosylase-like, catalytic (1);Lysozyme-like domain (1);	0.000000	0.64402	D	0.000013	T	0.79399	0.4439	M	0.84326	2.69	0.49687	D	0.999816	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.999	T	0.81531	-0.0890	8	.	.	.	-3.0463	12.1331	0.53955	0.0:0.0:0.0:1.0	.	144;144;144	Q496G2;C9J4J0;Q86SG7	.;.;LYG2_HUMAN	R	144	.	.	H	-	2	0	LYG2	99226983	1.000000	0.71417	0.998000	0.56505	0.065000	0.16274	5.205000	0.65186	2.121000	0.65114	0.454000	0.30748	CAC		0.433	LYG2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330307.1	NM_175735	
IL1R1	3554	broad.mit.edu;mdanderson.org;bcgsc.ca	37	2	102789203	102789203	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:102789203C>T	ENST00000410023.1	+	9	1214	c.896C>T	c.(895-897)tCg>tTg	p.S299L	IL1R1_ENST00000409329.1_Missense_Mutation_p.S299L|IL1R1_ENST00000424272.1_Missense_Mutation_p.S299L|IL1R1_ENST00000409288.1_Missense_Mutation_p.S299L|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000233946.3_Missense_Mutation_p.S299L|IL1R1_ENST00000409929.1_Missense_Mutation_p.S299L|AC007271.3_ENST00000428188.1_RNA			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	299	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	CTTAATATATCGGAAATTGAA	0.333																																						.											0													120.0	113.0	115.0					2																	102789203		2203	4300	6503	SO:0001583	missense	3554			M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.896C>T	2.37:g.102789203C>T	ENSP00000386380:p.Ser299Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	C	7.955	0.745632	0.15710	.	.	ENSG00000115594	ENST00000409929;ENST00000424272;ENST00000409329;ENST00000428279;ENST00000409288;ENST00000410023;ENST00000233946	T;T;T;T;T;T;T	0.04015	3.73;3.73;3.73;3.73;3.73;3.73;3.73	4.87	3.05	0.35203	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.129319	0.56097	N	0.000040	T	0.05227	0.0139	L	0.42245	1.32	0.35207	D	0.774809	B;B;B	0.24186	0.044;0.099;0.058	B;B;B	0.22753	0.041;0.041;0.031	T	0.19063	-1.0317	10	0.49607	T	0.09	.	9.1313	0.36846	0.0:0.8255:0.0:0.1745	.	299;299;299	B8ZZW4;P14778;B8ZZ73	.;IL1R1_HUMAN;.	L	299;299;299;155;299;299;299	ENSP00000386776:S299L;ENSP00000415366:S299L;ENSP00000387131:S299L;ENSP00000410461:S155L;ENSP00000386478:S299L;ENSP00000386380:S299L;ENSP00000233946:S299L	ENSP00000233946:S299L	S	+	2	0	IL1R1	102155635	0.743000	0.28239	0.109000	0.21407	0.027000	0.11550	1.082000	0.30803	0.743000	0.32719	0.591000	0.81541	TCG		0.333	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1		
MALL	7851	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	110849317	110849317	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:110849317C>A	ENST00000272462.2	-	2	909	c.136G>T	c.(136-138)Gcc>Tcc	p.A46S	MALL_ENST00000427178.1_Intron	NM_005434.4	NP_005425.1	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	46	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cholesterol homeostasis (GO:0042632)	clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		TGGGTGGCGGCTACCATGGTC	0.463																																						.											0													90.0	79.0	83.0					2																	110849317		2201	4295	6496	SO:0001583	missense	7851			U17077	CCDS2085.1	2q13	2008-02-05			ENSG00000144063	ENSG00000144063			6818	protein-coding gene	gene with protein product		602022				9326933	Standard	NM_005434		Approved	BENE	uc002tfk.3	Q13021	OTTHUMG00000131196	ENST00000272462.2:c.136G>T	2.37:g.110849317C>A	ENSP00000272462:p.Ala46Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B3KWR6|Q9BTU0	Missense_Mutation	SNP	ENST00000272462.2	37	CCDS2085.1	.	.	.	.	.	.	.	.	.	.	C	4.439	0.081328	0.08533	.	.	ENSG00000144063	ENST00000272462	T	0.30182	1.54	3.47	3.47	0.39725	Marvel (1);MARVEL-like domain (1);	0.000000	0.53938	D	0.000051	T	0.57184	0.2036	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.63373	-0.6652	10	0.49607	T	0.09	-14.0004	12.7991	0.57576	0.0:1.0:0.0:0.0	.	46	Q13021	MALL_HUMAN	S	46	ENSP00000272462:A46S	ENSP00000272462:A46S	A	-	1	0	MALL	110206606	0.996000	0.38824	0.802000	0.32245	0.092000	0.18411	4.652000	0.61454	1.664000	0.50801	0.313000	0.20887	GCC		0.463	MALL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253921.1	NM_005434	
BIN1	274	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	127810999	127810999	+	Splice_Site	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:127810999T>C	ENST00000316724.5	-	14	1673	c.1262A>G	c.(1261-1263)gAg>gGg	p.E421G	BIN1_ENST00000348750.4_Intron|BIN1_ENST00000393040.3_Intron|BIN1_ENST00000351659.3_Intron|BIN1_ENST00000376113.2_Intron|BIN1_ENST00000393041.3_Intron|BIN1_ENST00000346226.3_Intron|BIN1_ENST00000357970.3_Splice_Site_p.E378G|BIN1_ENST00000259238.4_Intron|BIN1_ENST00000466111.1_Intron|BIN1_ENST00000409400.1_Intron|BIN1_ENST00000352848.3_Intron	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	421	Clathrin-binding.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GCAGCTTACCTCCCAGAGGTC	0.602																																						.											0													106.0	87.0	93.0					2																	127810999		2203	4300	6503	SO:0001630	splice_region_variant	274			U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"""amphiphysin II"""	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.1263+1A>G	2.37:g.127810999T>C		Somatic		WXS	Illumina HiSeq	Phase_I	O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Missense_Mutation	SNP	ENST00000316724.5	37	CCDS2138.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.187063	0.78789	.	.	ENSG00000136717	ENST00000357970;ENST00000316724	T;T	0.65916	-0.18;-0.18	5.39	5.39	0.77823	.	0.230194	0.34777	N	0.003693	T	0.71195	0.3311	L	0.43152	1.355	0.80722	D	1	P;D	0.71674	0.879;0.998	P;D	0.72982	0.5;0.979	T	0.72290	-0.4337	10	0.51188	T	0.08	-30.8542	12.9831	0.58575	0.0:0.0:0.0:1.0	.	378;421	O00499-5;O00499	.;BIN1_HUMAN	G	378;421	ENSP00000350654:E378G;ENSP00000316779:E421G	ENSP00000316779:E421G	E	-	2	0	BIN1	127527469	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.417000	0.44653	2.075000	0.62263	0.454000	0.30748	GAG		0.602	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343	Missense_Mutation
MYO7B	4648	broad.mit.edu;bcgsc.ca	37	2	128324245	128324245	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:128324245G>A	ENST00000409816.2	+	4	345	c.313G>A	c.(313-315)Gtc>Atc	p.V105I	MYO7B_ENST00000428314.1_Missense_Mutation_p.V105I|MYO7B_ENST00000389524.4_Missense_Mutation_p.V105I			Q6PIF6	MYO7B_HUMAN	myosin VIIB	105	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCTGGTGGCCGTCAACCCGTT	0.637																																						.											0													26.0	31.0	29.0					2																	128324245		2010	4165	6175	SO:0001583	missense	4648				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.313G>A	2.37:g.128324245G>A	ENSP00000386461:p.Val105Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154856	0.78114	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.89617	-2.54;-2.54;-2.54	5.55	5.55	0.83447	Myosin head, motor domain (3);	0.000000	0.64402	D	0.000002	D	0.91556	0.7333	L	0.60957	1.885	0.58432	D	0.999997	D	0.76494	0.999	P	0.62491	0.903	D	0.89338	0.3652	10	0.26408	T	0.33	.	13.7612	0.62968	0.0733:0.0:0.9266:0.0	.	105	Q6PIF6	MYO7B_HUMAN	I	105	ENSP00000374175:V105I;ENSP00000415090:V105I;ENSP00000386461:V105I	ENSP00000374175:V105I	V	+	1	0	MYO7B	128040715	1.000000	0.71417	0.992000	0.48379	0.928000	0.56348	4.885000	0.63142	2.595000	0.87683	0.561000	0.74099	GTC		0.637	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001	
LCT	3938	broad.mit.edu;bcgsc.ca	37	2	136547323	136547323	+	Missense_Mutation	SNP	G	G	A	rs183725992		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:136547323G>A	ENST00000264162.2	-	16	5391	c.5381C>T	c.(5380-5382)gCg>gTg	p.A1794V		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1794	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	ATTGTCCATCGCACTCCAAAC	0.483													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21694	0.0		0.0	False		,,,				2504	0.0					.											0													143.0	136.0	138.0					2																	136547323		2203	4300	6503	SO:0001583	missense	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.5381C>T	2.37:g.136547323G>A	ENSP00000264162:p.Ala1794Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.72	3.200915	0.58234	.	.	ENSG00000115850	ENST00000264162	T	0.29397	1.57	5.74	4.49	0.54785	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.758642	0.12190	N	0.491292	T	0.17492	0.0420	N	0.05012	-0.13	0.30009	N	0.81537	B	0.09022	0.002	B	0.12837	0.008	T	0.13818	-1.0495	10	0.52906	T	0.07	-0.198	10.5282	0.44960	0.9161:0.0:0.0839:0.0	.	1794	P09848	LPH_HUMAN	V	1794	ENSP00000264162:A1794V	ENSP00000264162:A1794V	A	-	2	0	LCT	136263793	1.000000	0.71417	0.709000	0.30452	0.987000	0.75469	5.364000	0.66110	0.885000	0.36088	-0.253000	0.11424	GCG		0.483	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	
XIRP2	129446	broad.mit.edu	37	2	168100185	168100185	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:168100185C>T	ENST00000409195.1	+	9	2372	c.2283C>T	c.(2281-2283)gaC>gaT	p.D761D	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.D539D|XIRP2_ENST00000295237.9_Silent_p.D761D|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	586					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACAGAGAAGACGTTGAAAAGG	0.363																																						.											0													72.0	67.0	69.0					2																	168100185		1861	4088	5949	SO:0001819	synonymous_variant	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2283C>T	2.37:g.168100185C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	CCDS42769.1																																																																																				0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
METTL8	79828	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	172182369	172182369	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:172182369C>G	ENST00000375258.4	-	9	1230	c.1015G>C	c.(1015-1017)Gca>Cca	p.A339P	METTL8_ENST00000463392.1_5'UTR	NM_024770.3	NP_079046.2	Q9H825	METL8_HUMAN	methyltransferase like 8	0						cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						AAGAAATATGCTCTGGTACCA	0.289																																						.											0													45.0	45.0	45.0					2																	172182369		2199	4294	6493	SO:0001583	missense	79828			AK024046	CCDS2242.1, CCDS2242.2	2q31.1	2012-06-12			ENSG00000123600	ENSG00000123600			25856	protein-coding gene	gene with protein product	"""tension-induced/inhibited protein"""	609525				15992539	Standard	NM_024770		Approved	FLJ13984, TIP	uc010zdo.2	Q9H825	OTTHUMG00000132261	ENST00000375258.4:c.1015G>C	2.37:g.172182369C>G	ENSP00000364407:p.Ala339Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q53TM9|Q53TQ0	Missense_Mutation	SNP	ENST00000375258.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.0|25.0	4.593825|4.593825	0.86953|0.86953	.|.	.|.	ENSG00000123600|ENSG00000123600	ENST00000375258|ENST00000438609	T|.	0.04049|.	3.72|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.187532|.	0.47455|.	D|.	0.000222|.	T|T	0.79787|0.79787	0.4506|0.4506	M|M	0.83223|0.83223	2.63|2.63	0.34421|0.34421	D|D	0.697469|0.697469	D;D|.	0.71674|.	0.998;0.995|.	D;P|.	0.64877|.	0.93;0.806|.	D|D	0.85163|0.85163	0.0993|0.0993	10|5	0.66056|.	D|.	0.02|.	-6.4851|-6.4851	19.597|19.597	0.95544|0.95544	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	294;339|.	B4DLT0;B3KW44|.	.;.|.	P|T	339|174	ENSP00000364407:A339P|.	ENSP00000364407:A339P|.	A|S	-|-	1|2	0|0	METTL8|METTL8	171890615|171890615	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.366000|5.366000	0.66122|0.66122	2.631000|2.631000	0.89168|0.89168	0.650000|0.650000	0.86243|0.86243	GCA|AGC		0.289	METTL8-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255345.3	NM_024770	
HSPD1	3329	broad.mit.edu;bcgsc.ca	37	2	198353083	198353083	+	Missense_Mutation	SNP	C	C	T	rs531108523		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:198353083C>T	ENST00000388968.3	-	10	1615	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T	HSPD1_ENST00000345042.2_Missense_Mutation_p.A450T	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	450					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			GAGTCCAAGGCTGGAATGCAT	0.393																																						.											0													52.0	50.0	51.0					2																	198353083		2203	4300	6503	SO:0001583	missense	3329			M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"""Heat Shock Proteins / Chaperonins"""	5261	protein-coding gene	gene with protein product		118190	"""heat shock 60kD protein 1 (chaperonin)"", ""spastic paraplegia 13 (autosomal dominant)"""	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.1348G>A	2.37:g.198353083C>T	ENSP00000373620:p.Ala450Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B2R5M6|B7Z712|Q38L19|Q9UCR6	Missense_Mutation	SNP	ENST00000388968.3	37	CCDS33357.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.465020	0.63513	.	.	ENSG00000144381	ENST00000388968;ENST00000345042	T;T	0.79033	-1.23;-1.23	5.39	5.39	0.77823	.	0.148886	0.64402	D	0.000014	T	0.81550	0.4846	M	0.63428	1.95	0.80722	D	1	B;B;P	0.40000	0.026;0.026;0.698	B;B;P	0.45753	0.056;0.056;0.492	T	0.81627	-0.0847	10	0.49607	T	0.09	-3.9209	19.5044	0.95110	0.0:1.0:0.0:0.0	.	441;450;450	B7Z597;B3GQS7;P10809	.;.;CH60_HUMAN	T	450	ENSP00000373620:A450T;ENSP00000340019:A450T	ENSP00000340019:A450T	A	-	1	0	HSPD1	198061328	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.512000	0.53407	2.685000	0.91497	0.555000	0.69702	GCC		0.393	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156	
NBEAL1	65065	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	204002940	204002940	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:204002940A>G	ENST00000449802.1	+	29	4867	c.4534A>G	c.(4534-4536)Aat>Gat	p.N1512D		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1512										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGCAAAAACTAATCCAGTAAC	0.393																																						.											0													96.0	86.0	89.0					2																	204002940		1854	4093	5947	SO:0001583	missense	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.4534A>G	2.37:g.204002940A>G	ENSP00000399903:p.Asn1512Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	A	7.467	0.645890	0.14451	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.52295	0.67	5.61	5.61	0.85477	.	0.339152	0.26156	N	0.026006	T	0.35508	0.0934	L	0.40543	1.245	0.09310	N	1	B;B	0.19817	0.039;0.039	B;B	0.16722	0.016;0.016	T	0.22208	-1.0223	10	0.09843	T	0.71	.	11.1297	0.48339	0.7252:0.2748:0.0:0.0	.	1512;1501	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	D	1512	ENSP00000399903:N1512D	ENSP00000344985:N1512D	N	+	1	0	NBEAL1	203711185	0.982000	0.34865	0.669000	0.29828	0.995000	0.86356	5.109000	0.64615	2.141000	0.66446	0.533000	0.62120	AAT		0.393	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4		
DOCK10	55619	broad.mit.edu	37	2	225684245	225684245	+	Splice_Site	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:225684245C>T	ENST00000258390.7	-	29	3252	c.3185G>A	c.(3184-3186)cGc>cAc	p.R1062H	DOCK10_ENST00000409592.3_Splice_Site_p.R1056H	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1062					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGTAAAGCAGCGCTAAAATAG	0.308																																						.											0													88.0	84.0	85.0					2																	225684245		1817	4072	5889	SO:0001630	splice_region_variant	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.3184-1G>A	2.37:g.225684245C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944537	0.73672	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.24538	1.85;1.85	6.15	6.15	0.99193	.	0.000000	0.85682	D	0.000000	T	0.58864	0.2152	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.60026	-0.7343	10	0.87932	D	0	.	20.8387	0.99724	0.0:1.0:0.0:0.0	.	1062;1056	Q96BY6;B3FL70	DOC10_HUMAN;.	H	1056;1062	ENSP00000386694:R1056H;ENSP00000258390:R1062H	ENSP00000258390:R1062H	R	-	2	0	DOCK10	225392489	1.000000	0.71417	1.000000	0.80357	0.272000	0.26649	4.856000	0.62932	2.932000	0.99384	0.643000	0.83706	CGC		0.308	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		Missense_Mutation
C2orf57	165100	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	232458786	232458786	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:232458786C>T	ENST00000313965.2	+	1	1212	c.1124C>T	c.(1123-1125)gCc>gTc	p.A375V		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	375										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		ATCCGCTCAGCCATGCGCTAC	0.647																																						.											0													49.0	45.0	46.0					2																	232458786		2203	4300	6503	SO:0001583	missense	165100			BC034405	CCDS2487.1	2q37.1	2008-02-05			ENSG00000177673	ENSG00000177673			28563	protein-coding gene	gene with protein product						12477932	Standard	NM_152614		Approved	MGC35154	uc002vrz.3	Q53QW1	OTTHUMG00000133226	ENST00000313965.2:c.1124C>T	2.37:g.232458786C>T	ENSP00000315557:p.Ala375Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N4F2	Missense_Mutation	SNP	ENST00000313965.2	37	CCDS2487.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593729	0.46214	.	.	ENSG00000177673	ENST00000313965	T	0.30448	1.53	5.15	5.15	0.70609	.	0.249622	0.21052	N	0.080972	T	0.43344	0.1243	L	0.29908	0.895	0.09310	N	0.999999	D	0.76494	0.999	D	0.76071	0.987	T	0.26883	-1.0090	10	0.72032	D	0.01	.	13.9928	0.64378	0.0:1.0:0.0:0.0	.	375	Q53QW1	CB057_HUMAN	V	375	ENSP00000315557:A375V	ENSP00000315557:A375V	A	+	2	0	C2orf57	232167030	0.629000	0.27146	0.081000	0.20488	0.037000	0.13140	3.303000	0.51858	2.683000	0.91414	0.557000	0.71058	GCC		0.647	C2orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256962.1	NM_152614	
SNRPB	6628	broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	2442418	2442418	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:2442418C>T	ENST00000438552.2	-	7	869	c.707G>A	c.(706-708)cGc>cAc	p.R236H	SNORD119_ENST00000515997.1_RNA|SNRPB_ENST00000381342.2_3'UTR	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	236	Repeat-rich region.				gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)	p.R236H(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CCTTGGTGGGCGCATTCCCGG	0.542																																						.											1	Substitution - Missense(1)	kidney(1)											47.0	51.0	50.0					20																	2442418		2203	4300	6503	SO:0001583	missense	6628				CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.707G>A	20.37:g.2442418C>T	ENSP00000412566:p.Arg236His	Somatic		WXS	Illumina HiSeq	Phase_I	Q15490|Q6IB35|Q9UIS5	Missense_Mutation	SNP	ENST00000438552.2	37	CCDS13026.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892568	0.33442	.	.	ENSG00000125835	ENST00000438552;ENST00000303103	T	0.44881	0.91	4.7	1.51	0.23008	.	0.298090	0.36338	N	0.002646	T	0.26195	0.0639	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06534	-1.0821	10	0.87932	D	0	.	7.9054	0.29759	0.0:0.7006:0.0:0.2994	.	236	P14678	RSMB_HUMAN	H	236;284	ENSP00000412566:R236H	ENSP00000303591:R284H	R	-	2	0	SNRPB	2390418	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.285000	0.33261	0.234000	0.21139	0.561000	0.74099	CGC		0.542	SNRPB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077585.2		
PRNP	5621	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	4680473	4680473	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:4680473G>A	ENST00000379440.4	+	2	894	c.607G>A	c.(607-609)Gtt>Att	p.V203I	PRNP_ENST00000430350.2_Missense_Mutation_p.V203I	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						CGAGACCGACGTTAAGATGAT	0.522																																						.											0			GRCh37	CM001314	PRNP	M							176.0	151.0	159.0					20																	4680473		2203	4300	6503	SO:0001583	missense	5621			M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"""CD molecules"""	9449	protein-coding gene	gene with protein product	"""Creutzfeldt-Jakob disease"", ""Gerstmann-Strausler-Scheinker syndrome"", ""fatal familial insomnia"", ""p27-30"""	176640	"""prion protein (p27-30)"""	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.607G>A	20.37:g.4680473G>A	ENSP00000368752:p.Val203Ile	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000379440.4	37	CCDS13080.1	.	.	.	.	.	.	.	.	.	.	G	0.827	-0.746602	0.03065	.	.	ENSG00000171867	ENST00000379440;ENST00000430350;ENST00000424424;ENST00000444805;ENST00000457586	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.36	5.39	-4.2	0.03823	Prion/Doppel protein, beta-ribbon domain (4);	0.953375	0.08715	N	0.904371	T	0.80819	0.4696	N	0.20807	0.61	0.09310	N	1	B;B;B	0.25521	0.002;0.002;0.128	B;B;B	0.19148	0.003;0.002;0.024	T	0.67933	-0.5542	10	0.02654	T	1	-0.7995	11.8224	0.52247	0.68:0.0:0.32:0.0	.	203;203;235	B2NI04;P04156;O75942	.;PRIO_HUMAN;.	I	203;203;203;142;203	ENSP00000368752:V203I;ENSP00000399376:V203I;ENSP00000411599:V203I;ENSP00000415284:V203I	ENSP00000368752:V203I	V	+	1	0	PRNP	4628473	0.000000	0.05858	0.041000	0.18516	0.863000	0.49368	-0.472000	0.06623	-0.660000	0.05352	-0.136000	0.14681	GTT		0.522	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077820.2	NM_000311	
C20orf196	149840	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	5843951	5843951	+	Missense_Mutation	SNP	C	C	T	rs140278441		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:5843951C>T	ENST00000303142.6	+	3	547	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W		NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	154										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						GATCTTCAACCGGGACGGCTG	0.522																																						.											0								C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	58.0	57.0	57.0		460	3.9	1.0	20	dbSNP_134	57	0,8600		0,0,4300	no	missense	C20orf196	NM_152504.2	101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	154/206	5843951	2,13004	2203	4300	6503	SO:0001583	missense	149840			AK057796	CCDS13091.1	20p12.3	2006-07-07			ENSG00000171984	ENSG00000171984			26318	protein-coding gene	gene with protein product						12477932	Standard	NM_152504		Approved	FLJ25067	uc002wmf.3	Q8IYI0	OTTHUMG00000031813	ENST00000303142.6:c.460C>T	20.37:g.5843951C>T	ENSP00000305875:p.Arg154Trp	Somatic		WXS	Illumina HiSeq	Phase_I	A8K9J3|Q5TGA9|Q96LU1	Missense_Mutation	SNP	ENST00000303142.6	37	CCDS13091.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157705	0.38119	4.54E-4	0.0	ENSG00000171984	ENST00000303142	T	0.55588	0.51	5.86	3.92	0.45320	.	0.356526	0.24113	N	0.041425	T	0.36082	0.0954	L	0.28115	0.83	0.36750	D	0.88268	B	0.26876	0.162	B	0.20384	0.029	T	0.34775	-0.9815	10	0.54805	T	0.06	-11.3596	7.7804	0.29062	0.16:0.7582:0.0:0.0817	.	154	Q8IYI0	CT196_HUMAN	W	154	ENSP00000305875:R154W	ENSP00000305875:R154W	R	+	1	2	C20orf196	5791951	0.902000	0.30710	0.971000	0.41717	0.576000	0.36127	0.336000	0.19823	0.813000	0.34350	-0.899000	0.02877	CGG		0.522	C20orf196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077882.2	NM_152504	
RALGAPA2	57186	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	20475759	20475759	+	Splice_Site	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:20475759A>G	ENST00000202677.7	-	36	5375		c.e36+1			NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						ATGAAAACGTACCTCAGGTTT	0.378																																						.											0													135.0	130.0	131.0					20																	20475759		1904	4129	6033	SO:0001630	splice_region_variant	57186			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.5367+1T>C	20.37:g.20475759A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Splice_Site	SNP	ENST00000202677.7	37	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	A	17.22	3.333165	0.60853	.	.	ENSG00000188559	ENST00000417022;ENST00000430436;ENST00000202677;ENST00000427175	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7051	0.77573	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RALGAPA2	20423759	1.000000	0.71417	0.985000	0.45067	0.556000	0.35491	9.273000	0.95719	2.106000	0.64143	0.460000	0.39030	.		0.378	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343	Intron
SYNDIG1	79953	broad.mit.edu;mdanderson.org	37	20	24524119	24524119	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:24524119C>T	ENST00000376862.3	+	2	1019	c.386C>T	c.(385-387)cCg>cTg	p.P129L		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	129					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)	p.P129L(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CTCGAGTACCCGGATGGGAAG	0.607																																						.											1	Substitution - Missense(1)	large_intestine(1)											81.0	84.0	83.0					20																	24524119		2203	4300	6503	SO:0001583	missense	79953			AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.386C>T	20.37:g.24524119C>T	ENSP00000366058:p.Pro129Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IA30|Q9H514	Missense_Mutation	SNP	ENST00000376862.3	37	CCDS13164.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330865	0.60853	.	.	ENSG00000101463	ENST00000376862	D	0.90444	-2.67	5.47	5.47	0.80525	.	0.138225	0.51477	D	0.000099	D	0.86485	0.5944	M	0.62723	1.935	0.80722	D	1	D	0.54772	0.968	B	0.28385	0.089	D	0.89436	0.3720	10	0.87932	D	0	-33.8773	16.8193	0.85741	0.0:1.0:0.0:0.0	.	129	Q9H7V2	SYNG1_HUMAN	L	129	ENSP00000366058:P129L	ENSP00000366058:P129L	P	+	2	0	SYNDIG1	24472119	0.989000	0.36119	0.975000	0.42487	0.689000	0.40095	7.082000	0.76851	2.582000	0.87167	0.561000	0.74099	CCG		0.607	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893	
SOGA1	140710	broad.mit.edu;mdanderson.org	37	20	35467800	35467800	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:35467800G>A	ENST00000357779.3	-	2	344	c.18C>T	c.(16-18)gaC>gaT	p.D6D	SOGA1_ENST00000237536.4_Silent_p.D244D|SOGA1_ENST00000279034.6_Silent_p.D6D			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	6					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CCATATAGACGTCCCGCATCT	0.627																																						.											0													40.0	44.0	42.0					20																	35467800		2113	4241	6354	SO:0001819	synonymous_variant	140710			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.18C>T	20.37:g.35467800G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Silent	SNP	ENST00000357779.3	37																																																																																					0.627	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181	
SULF2	55959	broad.mit.edu	37	20	46365622	46365622	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:46365622G>A	ENST00000359930.4	-	3	1091	c.240C>T	c.(238-240)aaC>aaT	p.N80N	SULF2_ENST00000467815.1_Silent_p.N80N|SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000361612.4_Silent_p.N80N|SULF2_ENST00000484875.1_Silent_p.N80N	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	80					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TCACGAAGGCGTTGATGAAGT	0.582																																						.											0													235.0	181.0	199.0					20																	46365622		2203	4300	6503	SO:0001819	synonymous_variant	55959			AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.240C>T	20.37:g.46365622G>A		Somatic		WXS	Illumina HiSeq	Phase_I	E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Silent	SNP	ENST00000359930.4	37	CCDS13408.1																																																																																				0.582	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837	
KCNB1	3745	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	48098552	48098552	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:48098552G>A	ENST00000371741.4	-	1	632	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	156					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	TCCCGCTCCCGTAGGGTCTCG	0.582																																						.											0													170.0	138.0	148.0					20																	48098552		2203	4300	6503	SO:0001583	missense	3745			AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.466C>T	20.37:g.48098552G>A	ENSP00000360806:p.Arg156Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177032	0.38413	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.96554	-4.05	5.15	3.17	0.36434	.	0.132166	0.46758	D	0.000280	D	0.97845	0.9292	M	0.85542	2.76	0.32967	D	0.521814	D	0.89917	1.0	D	0.67548	0.952	D	0.99908	1.1188	10	0.87932	D	0	.	13.7034	0.62622	0.0:0.0:0.6011:0.3989	.	156	Q14721	KCNB1_HUMAN	W	156;111	ENSP00000360806:R156W	ENSP00000360806:R156W	R	-	1	2	KCNB1	47531959	0.998000	0.40836	0.009000	0.14445	0.619000	0.37552	1.309000	0.33539	0.726000	0.32339	-0.311000	0.09066	CGG		0.582	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975	
TMEM189-UBE2V1	387522	broad.mit.edu;mdanderson.org	37	20	48744630	48744630	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:48744630C>T	ENST00000341698.2	-	5	572	c.573G>A	c.(571-573)acG>acA	p.T191T	TMEM189_ENST00000371656.2_Silent_p.T116T|TMEM189_ENST00000371652.4_Silent_p.T191T|TMEM189_ENST00000557021.1_Silent_p.T191T|TMEM189_ENST00000371650.5_Silent_p.T188T	NM_001257399.1	NP_001244328.1			TMEM189-UBE2V1 readthrough											breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			GCCCAAAGTACGTGTGCGACC	0.587																																						.											0													219.0	146.0	171.0					20																	48744630		2203	4300	6503	SO:0001819	synonymous_variant	387521			U39361	CCDS13424.1	20q13.13	2011-05-31			ENSG00000124208	ENSG00000124208			33521	other	readthrough						11076860	Standard	NM_199203		Approved	Kua-UEV, CROC-1B	uc002xvf.3		OTTHUMG00000033085	ENST00000341698.2:c.573G>A	20.37:g.48744630C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000341698.2	37	CCDS13424.1																																																																																				0.587	TMEM189-UBE2V1-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000080532.5		
FAM65C	140876	broad.mit.edu	37	20	49218734	49218734	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:49218734C>T	ENST00000327979.2	-	13	1933	c.1522G>A	c.(1522-1524)Ggg>Agg	p.G508R	FAM65C_ENST00000045083.2_Missense_Mutation_p.G508R|FAM65C_ENST00000535356.1_Missense_Mutation_p.G512R			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	508										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACGCCAGGCCCGTCCTCTCTG	0.697																																						.											0													28.0	28.0	28.0					20																	49218734		2203	4300	6503	SO:0001583	missense	140876			AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.1522G>A	20.37:g.49218734C>T	ENSP00000332663:p.Gly508Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q5QPB6|Q9NQQ2	Missense_Mutation	SNP	ENST00000327979.2	37	CCDS13431.2	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559252	0.27827	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	T;T;T	0.16597	2.33;2.33;2.33	4.63	-2.66	0.06077	.	0.766780	0.12147	N	0.495269	T	0.07773	0.0195	N	0.21583	0.68	0.09310	N	1	B;B	0.18968	0.013;0.032	B;B	0.14578	0.011;0.006	T	0.33599	-0.9862	10	0.25751	T	0.34	-9.5507	1.9319	0.03328	0.1256:0.437:0.1229:0.3144	.	512;508	F5H0X2;Q96MK2	.;FA65C_HUMAN	R	508;508;512	ENSP00000332663:G508R;ENSP00000045083:G508R;ENSP00000439802:G512R	ENSP00000045083:G508R	G	-	1	0	FAM65C	48652141	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.606000	0.05654	-0.521000	0.06426	-1.036000	0.02392	GGG		0.697	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1		
BMP7	655	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	55803427	55803427	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:55803427G>A	ENST00000395863.3	-	2	974	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	BMP7_ENST00000395864.3_Missense_Mutation_p.R157W|BMP7_ENST00000450594.2_Missense_Mutation_p.R157W	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	157					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			AGATCAAACCGGAACTCTCGA	0.512																																						.											0													168.0	165.0	166.0					20																	55803427		2203	4300	6503	SO:0001583	missense	655				CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1074	protein-coding gene	gene with protein product	"""osteogenic protein 1"""	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.469C>T	20.37:g.55803427G>A	ENSP00000379204:p.Arg157Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H512|Q9NTQ7	Missense_Mutation	SNP	ENST00000395863.3	37	CCDS13455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.15|15.15	2.748028|2.748028	0.49257|0.49257	.|.	.|.	ENSG00000101144|ENSG00000101144	ENST00000433911|ENST00000395863;ENST00000395864;ENST00000450594	.|T;T;T	.|0.64438	.|-0.1;-0.1;-0.1	5.33|5.33	4.32|4.32	0.51571|0.51571	.|Transforming growth factor-beta, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72236|0.72236	0.3435|0.3435	L|L	0.47016|0.47016	1.485|1.485	0.80722|0.80722	D|D	1|1	.|B;B;D	.|0.89917	.|0.066;0.02;1.0	.|B;B;D	.|0.85130	.|0.039;0.013;0.997	T|T	0.69483|0.69483	-0.5133|-0.5133	5|10	.|0.34782	.|T	.|0.22	.|.	15.5359|15.5359	0.76001|0.76001	0.0:0.0:0.8035:0.1965|0.0:0.0:0.8035:0.1965	.|.	.|157;157;157	.|B1AKZ9;P18075;B1AL00	.|.;BMP7_HUMAN;.	L|W	42|157	.|ENSP00000379204:R157W;ENSP00000379205:R157W;ENSP00000398687:R157W	.|ENSP00000379204:R157W	P|R	-|-	2|1	0|2	BMP7|BMP7	55236834|55236834	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	3.728000|3.728000	0.54991|0.54991	2.644000|2.644000	0.89710|0.89710	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.512	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2		
PMEPA1	56937	broad.mit.edu;mdanderson.org;bcgsc.ca	37	20	56227600	56227600	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:56227600C>T	ENST00000341744.3	-	4	692	c.373G>A	c.(373-375)Gcc>Acc	p.A125T	PMEPA1_ENST00000395816.3_Missense_Mutation_p.A75T|PMEPA1_ENST00000395814.1_Missense_Mutation_p.A75T|PMEPA1_ENST00000265626.4_Missense_Mutation_p.A75T|PMEPA1_ENST00000347215.4_Missense_Mutation_p.A90T	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	125					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						TCCCGCTGGGCGAAGGGCGGC	0.706																																						.											0													20.0	21.0	21.0					20																	56227600		2198	4286	6484	SO:0001583	missense	56937			AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.373G>A	20.37:g.56227600C>T	ENSP00000345826:p.Ala125Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Missense_Mutation	SNP	ENST00000341744.3	37	CCDS13463.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524389	0.27299	.	.	ENSG00000124225	ENST00000341744;ENST00000347215;ENST00000395816;ENST00000265626;ENST00000395814;ENST00000414037;ENST00000395819	T;T;T;T;T;T;T	0.45668	0.89;0.9;0.92;0.92;0.92;0.9;0.9	5.32	-5.54	0.02544	.	0.645184	0.15683	N	0.249802	T	0.14743	0.0356	N	0.11255	0.115	0.22835	N	0.998677	B;B	0.13594	0.003;0.008	B;B	0.06405	0.001;0.002	T	0.06552	-1.0820	10	0.34782	T	0.22	-17.5275	1.6546	0.02779	0.1716:0.1762:0.1887:0.4634	.	90;125	Q5JY37;Q969W9	.;PMEPA_HUMAN	T	125;90;75;75;75;97;182	ENSP00000345826:A125T;ENSP00000344014:A90T;ENSP00000379161:A75T;ENSP00000265626:A75T;ENSP00000379159:A75T;ENSP00000401506:A97T;ENSP00000379164:A182T	ENSP00000265626:A75T	A	-	1	0	PMEPA1	55661006	0.000000	0.05858	0.918000	0.36340	0.589000	0.36550	-1.384000	0.02542	-0.775000	0.04584	-0.216000	0.12614	GCC		0.706	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182	
NKAIN4	128414	broad.mit.edu;mdanderson.org	37	20	61878938	61878938	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:61878938G>A	ENST00000370316.3	-	4	552	c.463C>T	c.(463-465)Ctg>Ttg	p.L155L	NKAIN4_ENST00000466885.1_5'UTR|NKAIN4_ENST00000370313.1_Silent_p.L93L|NKAIN4_ENST00000370307.2_Silent_p.L93L	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					ACCGCGATCAGGATCTGCAGG	0.701																																						.											0													19.0	17.0	18.0					20																	61878938		1898	3620	5518	SO:0001819	synonymous_variant	128414			BC041812	CCDS13514.1	20q13.33	2007-10-04	2007-10-04	2007-10-04	ENSG00000101198	ENSG00000101198		"""Na+/K+ transporting ATPase interacting"""	16191	protein-coding gene	gene with protein product		612873	"""chromosome 20 open reading frame 58"""	C20orf58		17606467	Standard	NM_152864		Approved	bA261N11.2, FAM77A	uc002yek.3	Q8IVV8	OTTHUMG00000032959	ENST00000370316.3:c.463C>T	20.37:g.61878938G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q4VXQ6|Q9BQU8|Q9BQU9	Silent	SNP	ENST00000370316.3	37	CCDS13514.1																																																																																				0.701	NKAIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080117.3	NM_152864	
ZNF512B	57473	broad.mit.edu;ucsc.edu;mdanderson.org	37	20	62598240	62598240	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:62598240G>A	ENST00000450537.1	-	4	442	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W	ZNF512B_ENST00000369888.1_Missense_Mutation_p.R128W|ZNF512B_ENST00000217130.3_Missense_Mutation_p.R128W			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	128					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCTTGGCACCGCTGGTAATGG	0.612																																						.											0													106.0	93.0	98.0					20																	62598240		2203	4300	6503	SO:0001583	missense	57473			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.382C>T	20.37:g.62598240G>A	ENSP00000393795:p.Arg128Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976442	0.92982	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.39056	1.1;1.1;1.1	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.54303	0.1850	L	0.29908	0.895	0.51482	D	0.999921	D	0.89917	1.0	D	0.91635	0.999	T	0.58364	-0.7649	10	0.87932	D	0	-24.539	17.032	0.86463	0.0:0.0:1.0:0.0	.	128	Q96KM6	Z512B_HUMAN	W	128	ENSP00000358904:R128W;ENSP00000393795:R128W;ENSP00000217130:R128W	ENSP00000217130:R128W	R	-	1	2	ZNF512B	62068684	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.065000	0.93941	2.451000	0.82905	0.585000	0.79938	CGG		0.612	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713	
CCT8L2	150160	broad.mit.edu;mdanderson.org;bcgsc.ca	37	22	17072519	17072519	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:17072519C>T	ENST00000359963.3	-	1	1181	c.922G>A	c.(922-924)Gac>Aac	p.D308N		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	308					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCATACTTGTCCGCCAGTGTG	0.532																																						.											0													189.0	167.0	174.0					22																	17072519		2203	4300	6503	SO:0001583	missense	150160			AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.922G>A	22.37:g.17072519C>T	ENSP00000353048:p.Asp308Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	0.023	-1.400013	0.01165	.	.	ENSG00000198445	ENST00000359963	T	0.77358	-1.09	1.98	1.98	0.26296	.	0.178508	0.26457	N	0.024274	T	0.43700	0.1259	N	0.02158	-0.66	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.41928	-0.9481	10	0.02654	T	1	-16.9039	7.4423	0.27190	0.0:1.0:0.0:0.0	.	308	Q96SF2	TCPQM_HUMAN	N	308	ENSP00000353048:D308N	ENSP00000353048:D308N	D	-	1	0	CCT8L2	15452519	0.128000	0.22383	0.002000	0.10522	0.007000	0.05969	1.637000	0.37155	1.115000	0.41800	0.379000	0.24179	GAC		0.532	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1		
PI4KA	5297	broad.mit.edu;mdanderson.org	37	22	21082095	21082095	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:21082095C>T	ENST00000572273.1	-	40	4796	c.4566G>A	c.(4564-4566)ccG>ccA	p.P1522P	PI4KA_ENST00000255882.6_Silent_p.P1580P|PI4KA_ENST00000414196.3_Silent_p.P332P|AC007308.6_ENST00000430719.1_RNA			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1522	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TAACGGCTCCCGGGTCCAACC	0.542																																					GBM(136;1332 1831 3115 23601 50806)	.											0													135.0	106.0	116.0					22																	21082095		2203	4300	6503	SO:0001819	synonymous_variant	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.4566G>A	22.37:g.21082095C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37																																																																																					0.542	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004	
ZNF280A	129025	broad.mit.edu;bcgsc.ca	37	22	22868961	22868961	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:22868961C>T	ENST00000302097.3	-	2	1246	c.994G>A	c.(994-996)Gac>Aac	p.D332N		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	332					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GTGGTGTGGTCTTCCCAGCTG	0.478																																						.											0													146.0	130.0	136.0					22																	22868961		2203	4300	6503	SO:0001583	missense	129025			D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.994G>A	22.37:g.22868961C>T	ENSP00000302855:p.Asp332Asn	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000302097.3	37	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	c	0.591	-0.832942	0.02713	.	.	ENSG00000169548	ENST00000302097	T	0.01092	5.35	3.9	-1.13	0.09775	.	.	.	.	.	T	0.00412	0.0013	N	0.00538	-1.39	0.09310	N	0.99999	B	0.02656	0.0	B	0.01281	0.0	T	0.44314	-0.9336	9	0.12430	T	0.62	0.3313	6.2591	0.20889	0.0:0.0988:0.2772:0.624	.	332	P59817	Z280A_HUMAN	N	332	ENSP00000302855:D332N	ENSP00000302855:D332N	D	-	1	0	ZNF280A	21198961	0.996000	0.38824	0.113000	0.21522	0.730000	0.41778	2.624000	0.46444	-0.274000	0.09232	-1.044000	0.02363	GAC		0.478	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740	
ADORA2A	135	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	24836835	24836835	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:24836835G>A	ENST00000337539.7	+	3	1076	c.617G>A	c.(616-618)cGa>cAa	p.R206Q	SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A_ENST00000496497.1_3'UTR|ADORA2A-AS1_ENST00000326341.4_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	206					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	GCGGCGCGACGACAGCTGAAG	0.592																																						.											0													137.0	137.0	137.0					22																	24836835		2203	4300	6503	SO:0001583	missense	135			X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"""GPCR / Class A : Adenosine receptors"""	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.617G>A	22.37:g.24836835G>A	ENSP00000336630:p.Arg206Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B2R7E0	Missense_Mutation	SNP	ENST00000337539.7	37	CCDS13826.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132314	0.56828	.	.	ENSG00000128271	ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596	T;T	0.41400	1.0;1.0	5.13	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.066245	0.64402	D	0.000009	T	0.27629	0.0679	L	0.38649	1.16	0.38637	D	0.951517	P	0.37824	0.609	B	0.27170	0.077	T	0.19778	-1.0295	10	0.59425	D	0.04	-14.2909	9.1234	0.36801	0.1663:0.0:0.8337:0.0	.	206	P29274	AA2AR_HUMAN	Q	206	ENSP00000414802:R206Q;ENSP00000336630:R206Q	ENSP00000336630:R206Q	R	+	2	0	ADORA2A	23166835	1.000000	0.71417	0.969000	0.41365	0.881000	0.50899	5.322000	0.65852	1.156000	0.42514	0.462000	0.41574	CGA		0.592	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675	
CHEK2	11200	broad.mit.edu;mdanderson.org;bcgsc.ca	37	22	29091740	29091740	+	Missense_Mutation	SNP	C	C	T	rs200649225		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:29091740C>T	ENST00000405598.1	-	12	1408	c.1217G>A	c.(1216-1218)cGt>cAt	p.R406H	CHEK2_ENST00000402731.1_Missense_Mutation_p.R377H|CHEK2_ENST00000544772.1_Missense_Mutation_p.R185H|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382580.2_Missense_Mutation_p.R449H|CHEK2_ENST00000404276.1_Missense_Mutation_p.R406H|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.R315H|CHEK2_ENST00000328354.6_Missense_Mutation_p.R406H|CHEK2_ENST00000382578.1_Missense_Mutation_p.R315H|CHEK2_ENST00000348295.3_Missense_Mutation_p.R377H			O96017	CHK2_HUMAN	checkpoint kinase 2	406	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> H (in dbSNP:rs299671).		cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GTCCACAGCACGGTTATACCC	0.443			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					C|||	1	0.000199681	0.0	0.0	5008	,	,		19868	0.0		0.0	False		,,,				2504	0.001					.	yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	0								C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	40.0	41.0	41.0		1346,1217,1130	3.5	0.9	22		41	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CHEK2	NM_001005735.1,NM_007194.3,NM_145862.2	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	449/587,406/544,377/515	29091740	1,13005	2203	4300	6503	SO:0001583	missense	11200			AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1217G>A	22.37:g.29091740C>T	ENSP00000386087:p.Arg406His	Somatic		WXS	Illumina HiSeq	Phase_I	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	CCDS13843.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.191485|4.191485	0.78902|0.78902	0.0|0.0	1.16E-4|1.16E-4	ENSG00000183765|ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000382563;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731|ENST00000434810	T;T;T;T;T;T;T;T;T|.	0.66280|.	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2|.	5.73|5.73	3.53|3.53	0.40419|0.40419	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.264364|.	0.40064|.	N|.	0.001198|.	T|T	0.52901|0.52901	0.1763|0.1763	L|L	0.37850|0.37850	1.14|1.14	0.58432|0.58432	D|D	0.999996|0.999996	D;D;D;D;D;D|.	0.89917|.	1.0;0.997;1.0;1.0;0.997;0.999|.	P;P;D;D;P;P|.	0.69307|.	0.858;0.839;0.963;0.953;0.763;0.766|.	T|T	0.47560|0.47560	-0.9108|-0.9108	10|5	0.59425|.	D|.	0.04|.	-8.0499|-8.0499	10.4422|10.4422	0.44472|0.44472	0.0:0.7927:0.1342:0.0731|0.0:0.7927:0.1342:0.0731	.|.	315;185;406;377;406;449|.	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9|.	.;.;.;.;CHK2_HUMAN;.|.	H|M	377;315;89;185;406;406;406;449;315;377|150	ENSP00000329012:R377H;ENSP00000372021:R315H;ENSP00000442458:R185H;ENSP00000329178:R406H;ENSP00000385747:R406H;ENSP00000386087:R406H;ENSP00000372023:R449H;ENSP00000384919:R315H;ENSP00000384835:R377H|.	ENSP00000329178:R406H|.	R|V	-|-	2|1	0|0	CHEK2|CHEK2	27421740|27421740	0.854000|0.854000	0.29725|0.29725	0.920000|0.920000	0.36463|0.36463	0.956000|0.956000	0.61745|0.61745	1.622000|1.622000	0.36997|0.36997	1.429000|1.429000	0.47314|0.47314	0.650000|0.650000	0.86243|0.86243	CGT|GTG		0.443	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735	
GAL3ST1	9514	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	30951743	30951743	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:30951743C>T	ENST00000402321.1	-	3	786	c.469G>A	c.(469-471)Gcc>Acc	p.A157T	GAL3ST1_ENST00000402369.1_Missense_Mutation_p.A157T|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.A157T|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.A157T|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.A157T|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.A157T|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.A157T			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	157					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						ATGAAGATGGCGTTGGTCGGC	0.657																																						.											0													78.0	82.0	81.0					22																	30951743		2203	4300	6503	SO:0001583	missense	9514			D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.469G>A	22.37:g.30951743C>T	ENSP00000385735:p.Ala157Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q96C63	Missense_Mutation	SNP	ENST00000402321.1	37	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.301624	0.23736	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111;ENST00000441967;ENST00000431313;ENST00000452827;ENST00000437282;ENST00000416358;ENST00000427899	T;T;T;T;T;T;T;T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65	5.11	4.06	0.47325	.	0.050236	0.85682	D	0.000000	T	0.06096	0.0158	N	0.13371	0.34	0.80722	D	1	P	0.43314	0.803	B	0.33295	0.161	T	0.15578	-1.0432	10	0.02654	T	1	-23.5279	14.5964	0.68410	0.1566:0.8434:0.0:0.0	.	157	Q99999	G3ST1_HUMAN	T	157;157;157;157;157;157;157;157;158;157;157;157;158	ENSP00000385825:A157T;ENSP00000385735:A157T;ENSP00000384122:A157T;ENSP00000384388:A157T;ENSP00000343234:A157T;ENSP00000385207:A157T;ENSP00000402587:A157T;ENSP00000390545:A157T;ENSP00000395080:A158T;ENSP00000405017:A157T;ENSP00000401426:A157T;ENSP00000391485:A157T;ENSP00000397092:A158T	ENSP00000343234:A157T	A	-	1	0	GAL3ST1	29281743	0.998000	0.40836	1.000000	0.80357	0.921000	0.55340	0.766000	0.26560	1.048000	0.40298	0.491000	0.48974	GCC		0.657	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861	
EIF4ENIF1	56478	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	31843508	31843508	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:31843508G>A	ENST00000397525.1	-	14	2115	c.1892C>T	c.(1891-1893)gCc>gTc	p.A631V	EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.A607V|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.A457V|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.A286V|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.A631V	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	631						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATGTGGCAAGGCCAGCCCTTC	0.512																																						.											0													70.0	64.0	66.0					22																	31843508		2203	4300	6503	SO:0001583	missense	56478			AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.1892C>T	22.37:g.31843508G>A	ENSP00000380659:p.Ala631Val	Somatic		WXS	Illumina HiSeq	Phase_I	B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034959	0.54896	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180;ENST00000418321	.	.	.	6.17	4.01	0.46588	.	0.388525	0.28908	N	0.013746	T	0.37320	0.0999	L	0.34521	1.04	0.27305	N	0.957477	B;B;B;B	0.27910	0.193;0.193;0.161;0.085	B;B;B;B	0.31614	0.129;0.129;0.079;0.133	T	0.21586	-1.0241	9	0.34782	T	0.22	-5.9143	12.3657	0.55226	0.0:0.1258:0.7445:0.1297	.	457;631;456;607	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	V	457;631;631;607;286;188	.	ENSP00000328103:A631V	A	-	2	0	EIF4ENIF1	30173508	0.844000	0.29557	0.978000	0.43139	0.805000	0.45488	3.314000	0.51943	2.941000	0.99782	0.655000	0.94253	GCC		0.512	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843	
RFPL2	10739	broad.mit.edu;bcgsc.ca	37	22	32587274	32587274	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:32587274C>T	ENST00000400237.1	-	5	1557	c.622G>A	c.(622-624)Gtc>Atc	p.V208I	RFPL2_ENST00000400236.3_Missense_Mutation_p.V118I|RFPL2_ENST00000248983.4_Missense_Mutation_p.V118I|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248980.4_Missense_Mutation_p.V147I			O75678	RFPL2_HUMAN	ret finger protein-like 2	208	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CCACTTCGGACGCTCCTGAGG	0.527																																						.											0													131.0	120.0	123.0					22																	32587274		2203	4300	6503	SO:0001583	missense	10739			AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"""RING-type (C3HC4) zinc fingers"""	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.622G>A	22.37:g.32587274C>T	ENSP00000383096:p.Val208Ile	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000400237.1	37	CCDS43009.2	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927680	0.34002	.	.	ENSG00000128253	ENST00000248980;ENST00000248983;ENST00000400236;ENST00000400237	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	0.351	-0.702	0.11265	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.35128	0.0921	M	0.66378	2.025	0.09310	N	1	D;D	0.57257	0.979;0.967	P;P	0.55785	0.784;0.677	T	0.19614	-1.0300	9	0.59425	D	0.04	.	4.8587	0.13571	0.3466:0.6534:0.0:0.0	.	208;147	O75678;O75678-3	RFPL2_HUMAN;.	I	147;118;118;208	ENSP00000248980:V147I;ENSP00000248983:V118I;ENSP00000383095:V118I;ENSP00000383096:V208I	ENSP00000248980:V147I	V	-	1	0	RFPL2	30917274	0.426000	0.25506	0.003000	0.11579	0.003000	0.03518	1.638000	0.37165	-0.726000	0.04895	-0.745000	0.03516	GTC		0.527	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605	
PDXP	57026	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	38061706	38061706	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:38061706T>C	ENST00000215904.6	+	2	775	c.719T>C	c.(718-720)cTg>cCg	p.L240P	PDXP_ENST00000403251.1_Missense_Mutation_p.L23P|SH3BP1_ENST00000599616.1_Missense_Mutation_p.L549P	NM_020315.4	NP_064711.1	Q96GD0	PLPP_HUMAN	pyridoxal (pyridoxine, vitamin B6) phosphatase	240					actin rod assembly (GO:0031247)|cellular response to ATP (GO:0071318)|positive regulation of actin filament depolymerization (GO:0030836)|protein dephosphorylation (GO:0006470)|pyridoxal phosphate catabolic process (GO:0032361)|regulation of cytokinesis (GO:0032465)|regulation of mitosis (GO:0007088)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heat shock protein binding (GO:0031072)|magnesium ion binding (GO:0000287)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|pyridoxal phosphatase activity (GO:0033883)			kidney(1)|large_intestine(1)|lung(5)|ovary(2)	9	Melanoma(58;0.0574)					GGTGACCGCCTGGAGACCGAC	0.642																																						.											0													137.0	122.0	127.0					22																	38061706		2203	4300	6503	SO:0001583	missense	57026			BC064922	CCDS13953.1	22q12.3	2005-08-16			ENSG00000241360	ENSG00000241360			30259	protein-coding gene	gene with protein product		609246				14522954	Standard	NM_020315		Approved	dJ37E16.5, FLJ32703		Q96GD0	OTTHUMG00000044618	ENST00000215904.6:c.719T>C	22.37:g.38061706T>C	ENSP00000215904:p.Leu240Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q9UGY2	Missense_Mutation	SNP	ENST00000215904.6	37	CCDS13953.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.744933	0.89663	.	.	ENSG00000241360	ENST00000215904;ENST00000403251	T;T	0.36340	1.26;1.26	5.78	5.78	0.91487	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	.	.	.	.	T	0.62696	0.2449	M	0.76938	2.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67252	-0.5717	9	0.87932	D	0	-7.7132	16.1061	0.81223	0.0:0.0:0.0:1.0	.	240;549	Q96GD0;Q6ZT62	PLPP_HUMAN;.	P	240;23	ENSP00000215904:L240P;ENSP00000385336:L23P	ENSP00000215904:L240P	L	+	2	0	PDXP	36391652	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.955000	0.87856	2.210000	0.71456	0.459000	0.35465	CTG		0.642	PDXP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104105.2	NM_020315	
TRIOBP	11078	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	38153951	38153951	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:38153951C>T	ENST00000406386.3	+	16	6274	c.6019C>T	c.(6019-6021)Cgc>Tgc	p.R2007C	TRIOBP_ENST00000407319.2_Missense_Mutation_p.R294C|TRIOBP_ENST00000403663.2_Missense_Mutation_p.R294C	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2007					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TGAGGGGCCGCGCCGGGGCCT	0.682																																						.											0													9.0	11.0	11.0					22																	38153951		2090	4132	6222	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.6019C>T	22.37:g.38153951C>T	ENSP00000384312:p.Arg2007Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.50|15.50	2.853008|2.853008	0.51270|0.51270	.|.	.|.	ENSG00000100106|ENSG00000100106	ENST00000428075|ENST00000406386;ENST00000407319;ENST00000403663;ENST00000418339;ENST00000417857	.|T	.|0.24151	.|1.87	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|.	.|.	.|.	.|.	T|T	0.44222|0.44222	0.1283|0.1283	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.68039	.|0.955;0.945;0.928	T|T	0.29458|0.29458	-1.0011|-1.0011	5|9	.|0.49607	.|T	.|0.09	.|.	10.746|10.746	0.46181|0.46181	0.0:0.7937:0.1333:0.0729|0.0:0.7937:0.1333:0.0729	.|.	.|294;294;2007	.|F8W6V6;F2Z2W0;Q9H2D6	.|.;.;TARA_HUMAN	V|C	247|2007;294;294;253;223	.|ENSP00000384312:R2007C	.|ENSP00000386026:R294C	A|R	+|+	2|1	0|0	TRIOBP|TRIOBP	36483897|36483897	0.954000|0.954000	0.32549|0.32549	0.903000|0.903000	0.35520|0.35520	0.727000|0.727000	0.41649|0.41649	2.030000|2.030000	0.41108|0.41108	2.527000|2.527000	0.85204|0.85204	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.682	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2		
CYP2D6	1565	broad.mit.edu;mdanderson.org;bcgsc.ca	37	22	42525053	42525053	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:42525053C>T	ENST00000360608.5	-	3	601	c.487G>A	c.(487-489)Gcc>Acc	p.A163T	CYP2D6_ENST00000359033.4_Intron|NDUFA6-AS1_ENST00000608288.1_RNA|NDUFA6-AS1_ENST00000608491.1_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.A163T|NDUFA6-AS1_ENST00000439129.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	163					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TTGGCGAAGGCGGCACAAAGG	0.667																																						.											0													12.0	16.0	15.0					22																	42525053		2133	4213	6346	SO:0001583	missense	1565			M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.487G>A	22.37:g.42525053C>T	ENSP00000353820:p.Ala163Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	c	13.04	2.117873	0.37339	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640	T;T	0.68765	-0.35;-0.35	3.37	2.35	0.29111	.	0.598136	0.15077	N	0.281880	T	0.64125	0.2570	L	0.53617	1.68	0.42544	D	0.993086	D	0.67145	0.996	P	0.47864	0.559	T	0.65261	-0.6211	10	0.56958	D	0.05	.	8.8621	0.35265	0.0:0.8829:0.0:0.1171	.	163	Q6NWU0	.	T	163;163;112	ENSP00000353820:A163T;ENSP00000374620:A163T	ENSP00000353820:A163T	A	-	1	0	CYP2D6	40854997	0.998000	0.40836	0.840000	0.33206	0.020000	0.10135	4.220000	0.58567	0.987000	0.38709	0.305000	0.20034	GCC		0.667	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1		
POLDIP3	84271	broad.mit.edu	37	22	42987962	42987962	+	Splice_Site	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:42987962G>A	ENST00000252115.5	-	7	1124	c.1020C>T	c.(1018-1020)gaC>gaT	p.D340D	POLDIP3_ENST00000451060.2_Splice_Site_p.D184D|POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000348657.2_Splice_Site_p.D311D	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	340	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						CTAACTTACCGTCCAGACACC	0.542																																					Ovarian(52;967 1128 5875 19997 42537)	.											0													238.0	191.0	207.0					22																	42987962		2203	4300	6503	SO:0001630	splice_region_variant	84271				CCDS14038.1, CCDS14039.1, CCDS74873.1	22q13.31	2013-02-12			ENSG00000100227	ENSG00000100227		"""RNA binding motif (RRM) containing"""	23782	protein-coding gene	gene with protein product		611520				12522211	Standard	NM_032311		Approved	PDIP46, KIAA1649	uc003bcu.3	Q9BY77	OTTHUMG00000150887	ENST00000252115.5:c.1021+1C>T	22.37:g.42987962G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	Silent	SNP	ENST00000252115.5	37	CCDS14038.1																																																																																				0.542	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320433.1	NM_032311	Silent
C22orf34	348645	broad.mit.edu;ucsc.edu;mdanderson.org	37	22	50018190	50018190	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:50018190C>T	ENST00000405854.1	-	4	1230	c.271G>A	c.(271-273)Gca>Aca	p.A91T	C22orf34_ENST00000444628.1_Missense_Mutation_p.A91T|C22orf34_ENST00000400023.1_Missense_Mutation_p.A92T			Q6ZV56	CV034_HUMAN	chromosome 22 open reading frame 34	91	Cys-rich.									pancreas(1)	1						GCACAGCGTGCGTTTATGAAC	0.617																																						.											0																																										SO:0001583	missense	348645			BC048207		22q13.33	2013-01-15			ENSG00000188511	ENSG00000188511			28010	other	unknown						12477932	Standard	NR_026997		Approved		uc003bit.3	Q6ZV56	OTTHUMG00000030424	ENST00000405854.1:c.271G>A	22.37:g.50018190C>T	ENSP00000385457:p.Ala91Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q147Y0|Q5R3D1|Q6ZTN8	RNA	SNP	ENST00000405854.1	37		.	.	.	.	.	.	.	.	.	.	C	1.658	-0.512121	0.04200	.	.	ENSG00000188511	ENST00000400023;ENST00000405854;ENST00000444628	.	.	.	0.672	-1.34	0.09143	.	.	.	.	.	T	0.22126	0.0533	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.20739	-1.0266	6	.	.	.	.	5.3159	0.15854	0.0:0.5733:0.0:0.4267	.	92	Q6ZV56-2	.	T	92;91;91	.	.	A	-	1	0	C22orf34	48404194	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.307000	0.01132	-0.906000	0.03866	-1.232000	0.01568	GCA		0.617	C22orf34-003	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000317432.1	NR_026997	
PANX2	56666	broad.mit.edu	37	22	50617544	50617544	+	Silent	SNP	G	G	A	rs114447696	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:50617544G>A	ENST00000395842.2	+	3	1872	c.1872G>A	c.(1870-1872)ccG>ccA	p.P624P	PANX2_ENST00000159647.5_Silent_p.P624P	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	624					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CCACACACCCGCTGCTGCACA	0.716													G|||	4	0.000798722	0.0	0.0	5008	,	,		14056	0.003		0.0	False		,,,				2504	0.001					.											0													43.0	40.0	41.0					22																	50617544		2197	4298	6495	SO:0001819	synonymous_variant	56666				CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.1872G>A	22.37:g.50617544G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z684|Q96RD5|Q9UGX8	Silent	SNP	ENST00000395842.2	37	CCDS14085.2																																																																																				0.716	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839	
TUBGCP6	85378	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	50664592	50664592	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:50664592C>T	ENST00000248846.5	-	9	1824	c.1720G>A	c.(1720-1722)Gtg>Atg	p.V574M	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.V574M|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	574					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GAGATGAGCACGTAGCCATGT	0.557																																						.											0													241.0	225.0	231.0					22																	50664592		2203	4300	6503	SO:0001583	missense	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.1720G>A	22.37:g.50664592C>T	ENSP00000248846:p.Val574Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343671	0.61073	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.08458	3.09;3.09	5.04	4.01	0.46588	.	0.292321	0.33290	N	0.005065	T	0.11623	0.0283	L	0.59436	1.845	0.36269	D	0.855028	P;D	0.54207	0.929;0.965	B;B	0.42995	0.329;0.404	T	0.19712	-1.0297	10	0.45353	T	0.12	.	13.7035	0.62624	0.0:0.9239:0.0:0.0761	.	574;574	B2RWN4;Q96RT7	.;GCP6_HUMAN	M	574	ENSP00000248846:V574M;ENSP00000397387:V574M	ENSP00000248846:V574M	V	-	1	0	TUBGCP6	49006719	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	2.274000	0.43390	1.109000	0.41680	0.462000	0.41574	GTG		0.557	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461	
ARSA	410	broad.mit.edu	37	22	51064679	51064679	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:51064679G>A	ENST00000547307.1	-	5	1281	c.876C>T	c.(874-876)ggC>ggT	p.G292G	ARSA_ENST00000356098.5_Silent_p.G294G|ARSA_ENST00000453344.2_Silent_p.G208G|ARSA_ENST00000547805.1_Silent_p.G292G|ARSA_ENST00000216124.5_Silent_p.G294G|ARSA_ENST00000395619.3_Silent_p.G294G|ARSA_ENST00000395621.3_Silent_p.G294G|ARSA_ENST00000610191.1_5'Flank			P15289	ARSA_HUMAN	arylsulfatase A	292					autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	CGGAGCAGCCGCCTCGGGACA	0.652																																						.											0													48.0	44.0	45.0					22																	51064679		2203	4300	6503	SO:0001819	synonymous_variant	410			X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"""Arylsulfatase family"""	713	protein-coding gene	gene with protein product	"""metachromatic leucodystrophy"""	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.876C>T	22.37:g.51064679G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Silent	SNP	ENST00000547307.1	37																																																																																					0.652	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000487	
TRNT1	51095	broad.mit.edu	37	3	3179092	3179092	+	Silent	SNP	G	G	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:3179092G>C	ENST00000251607.6	+	3	399	c.297G>C	c.(295-297)cgG>cgC	p.R99R	TRNT1_ENST00000280591.6_Silent_p.R99R	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	99					protein targeting to mitochondrion (GO:0006626)|tRNA 3'-end processing (GO:0042780)|tRNA 3'-terminal CCA addition (GO:0001680)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity (GO:0052929)|CTP:3'-cytidine-tRNA cytidylyltransferase activity (GO:0052928)|CTP:tRNA cytidylyltransferase activity (GO:0052927)|tRNA adenylyltransferase activity (GO:0004810)|tRNA binding (GO:0000049)			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		CTGGGATTCGGATGATAAACA	0.393																																						.											0													78.0	81.0	80.0					3																	3179092		2203	4300	6503	SO:0001819	synonymous_variant	51095			AF151805	CCDS2561.2	3p25.1	2002-05-30			ENSG00000072756	ENSG00000072756	2.7.7.25		17341	protein-coding gene	gene with protein product		612907				10810093, 11504732	Standard	NM_182916		Approved	MtCCA, CGI-47, CCA1	uc003bpp.4	Q96Q11	OTTHUMG00000090259	ENST00000251607.6:c.297G>C	3.37:g.3179092G>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8K2Z6|B7WP13|C9JKA2|Q8ND57|Q9BS97|Q9Y362	Silent	SNP	ENST00000251607.6	37	CCDS2561.2																																																																																				0.393	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337616.1		
SLC6A11	6538	broad.mit.edu;ucsc.edu;mdanderson.org	37	3	10960101	10960101	+	Silent	SNP	C	C	T	rs144421280	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:10960101C>T	ENST00000254488.2	+	8	1149	c.1083C>T	c.(1081-1083)taC>taT	p.Y361Y		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	361					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TTATGGCGTACGAGCAGGGGG	0.572													C|||	2	0.000399361	0.0	0.0	5008	,	,		20821	0.002		0.0	False		,,,				2504	0.0					.											0													124.0	102.0	110.0					3																	10960101		2203	4300	6503	SO:0001819	synonymous_variant	6538			S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1083C>T	3.37:g.10960101C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2R6U6|Q8IYC9	Silent	SNP	ENST00000254488.2	37	CCDS2602.1																																																																																				0.572	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229	
CTNNB1	1499	broad.mit.edu;mdanderson.org;bcgsc.ca	37	3	41266964	41266964	+	Missense_Mutation	SNP	G	G	A	rs200890083		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:41266964G>A	ENST00000349496.5	+	5	915	c.635G>A	c.(634-636)cGt>cAt	p.R212H	CTNNB1_ENST00000396185.3_Missense_Mutation_p.R212H|CTNNB1_ENST00000396183.3_Missense_Mutation_p.R212H|CTNNB1_ENST00000405570.1_Missense_Mutation_p.R212H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R205H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	212					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GAAACAGCTCGTTGTACCGCT	0.478		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				G|||	1	0.000199681	0.0	0.0	5008	,	,		21147	0.0		0.001	False		,,,				2504	0.0				Colon(6;3 56 14213 18255)	.		Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	0													102.0	98.0	99.0					3																	41266964		2203	4300	6503	SO:0001583	missense	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.635G>A	3.37:g.41266964G>A	ENSP00000344456:p.Arg212His	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.27	3.794849	0.70452	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63058	0.2479	M	0.74647	2.275	0.80722	D	1	P;P	0.36378	0.55;0.55	B;B	0.26094	0.044;0.066	T	0.69072	-0.5242	10	0.87932	D	0	-14.4568	19.8405	0.96681	0.0:0.0:1.0:0.0	.	140;212	B4DSW9;P35222	.;CTNB1_HUMAN	H	212;212;212;205;212	ENSP00000385604:R212H;ENSP00000379486:R212H;ENSP00000344456:R212H;ENSP00000411226:R205H;ENSP00000379488:R212H	ENSP00000344456:R212H	R	+	2	0	CTNNB1	41241968	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.869000	0.99810	2.692000	0.91855	0.655000	0.94253	CGT		0.478	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
FAM198A	729085	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	43074842	43074842	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:43074842G>A	ENST00000430121.2	+	2	1182	c.1087G>A	c.(1087-1089)Ggt>Agt	p.G363S	KRBOX1_ENST00000443313.1_Intron	NM_001129908.2	NP_001123380.2	Q9UFP1	F198A_HUMAN	family with sequence similarity 198, member A	363						extracellular region (GO:0005576)				endometrium(1)	1						ATACACAGACGGTGGAGCAAG	0.632																																						.											0													36.0	37.0	37.0					3																	43074842		692	1591	2283	SO:0001583	missense	729085			AL117530	CCDS46808.1	3p22.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000144649	ENSG00000144649			24485	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 41"""	C3orf41			Standard	NM_001129908		Approved	DKFZP434B172	uc003cmp.4	Q9UFP1	OTTHUMG00000156449	ENST00000430121.2:c.1087G>A	3.37:g.43074842G>A	ENSP00000407301:p.Gly363Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B3KR48	Missense_Mutation	SNP	ENST00000430121.2	37	CCDS46808.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365638	0.41902	.	.	ENSG00000144649	ENST00000430121	T	0.55413	0.52	5.1	4.22	0.49857	.	0.118364	0.56097	D	0.000028	T	0.60637	0.2284	M	0.81497	2.545	0.46376	D	0.999014	D	0.59357	0.985	P	0.48030	0.564	T	0.66372	-0.5940	9	.	.	.	-5.1791	12.8116	0.57643	0.0794:0.0:0.9206:0.0	.	363	Q9UFP1	F198A_HUMAN	S	363	ENSP00000407301:G363S	.	G	+	1	0	FAM198A	43049846	1.000000	0.71417	0.036000	0.18154	0.033000	0.12548	7.663000	0.83820	1.300000	0.44818	0.650000	0.86243	GGT		0.632	FAM198A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344240.3	NM_001129908	
PLXNB1	5364	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	48462160	48462160	+	Missense_Mutation	SNP	G	G	A	rs555355943		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:48462160G>A	ENST00000358536.4	-	10	2211	c.1942C>T	c.(1942-1944)Cgc>Tgc	p.R648C	PLXNB1_ENST00000358459.4_Missense_Mutation_p.R648C|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.R648C|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R648C	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	648					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACCCCCAGCGGCTGCTCACA	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		17417	0.0		0.0	False		,,,				2504	0.001					.											0													47.0	43.0	44.0					3																	48462160		2203	4300	6503	SO:0001583	missense	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.1942C>T	3.37:g.48462160G>A	ENSP00000351338:p.Arg648Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.610071	0.66558	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.03580	3.88;3.9;3.88;3.9	5.24	3.35	0.38373	.	0.414294	0.24022	N	0.042266	T	0.08670	0.0215	M	0.71036	2.16	0.80722	D	1	P;P	0.52170	0.923;0.951	B;P	0.48901	0.232;0.594	T	0.02115	-1.1211	10	0.56958	D	0.05	.	10.9355	0.47243	0.0:0.2377:0.6355:0.1267	.	648;648	O43157;O43157-2	PLXB1_HUMAN;.	C	648	ENSP00000296440:R648C;ENSP00000351242:R648C;ENSP00000351338:R648C;ENSP00000414199:R648C	ENSP00000296440:R648C	R	-	1	0	PLXNB1	48437164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.903000	0.48711	2.468000	0.83385	0.561000	0.74099	CGC		0.637	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673	
NDUFAF3	25915	broad.mit.edu	37	3	49061970	49061970	+	IGR	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:49061970G>A	ENST00000326925.6	+	0	2012				DALRD3_ENST00000496568.1_5'Flank|IMPDH2_ENST00000326739.4_Missense_Mutation_p.T494M	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3						mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						GGCTGAGGACGTTCTCTTCTC	0.567																																						.											0													123.0	113.0	116.0					3																	49061970		2203	4300	6503	SO:0001628	intergenic_variant	3615				CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"""Mitochondrial respiratory chain complex assembly factors"""	29918	protein-coding gene	gene with protein product		612911	"""chromosome 3 open reading frame 60"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"""	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773		3.37:g.49061970G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000326925.6	37	CCDS2784.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761076	0.89932	.	.	ENSG00000178035	ENST00000326739	D	0.82893	-1.66	5.68	5.68	0.88126	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.94228	0.8147	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.95373	0.8466	10	0.87932	D	0	-12.7463	19.7926	0.96466	0.0:0.0:1.0:0.0	.	494	P12268	IMDH2_HUMAN	M	494	ENSP00000321584:T494M	ENSP00000321584:T494M	T	-	2	0	IMPDH2	49036974	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.367000	0.97148	2.670000	0.90874	0.655000	0.94253	ACG		0.567	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069	
BSN	8927	broad.mit.edu;mdanderson.org;bcgsc.ca	37	3	49694040	49694040	+	Missense_Mutation	SNP	C	C	T	rs370022838		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:49694040C>T	ENST00000296452.4	+	5	7165	c.7051C>T	c.(7051-7053)Cgg>Tgg	p.R2351W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2351					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGCCCTCAGCCGGCCAGGGTT	0.647																																						.											0								C	TRP/ARG	0,4384		0,0,2192	14.0	15.0	15.0		7051	4.6	1.0	3		15	1,8569		0,1,4284	no	missense	BSN	NM_003458.3	101	0,1,6476	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	2351/3927	49694040	1,12953	2192	4285	6477	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.7051C>T	3.37:g.49694040C>T	ENSP00000296452:p.Arg2351Trp	Somatic		WXS	Illumina HiSeq	Phase_I	O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	8.910	0.958563	0.18507	0.0	1.17E-4	ENSG00000164061	ENST00000296452	T	0.18657	2.2	5.45	4.55	0.56014	.	0.745176	0.12546	N	0.459461	T	0.31796	0.0808	N	0.19112	0.55	0.37687	D	0.923715	D	0.89917	1.0	D	0.87578	0.998	T	0.23476	-1.0187	10	0.72032	D	0.01	-20.9049	11.971	0.53063	0.1737:0.8263:0.0:0.0	.	2351	Q9UPA5	BSN_HUMAN	W	2351	ENSP00000296452:R2351W	ENSP00000296452:R2351W	R	+	1	2	BSN	49669044	0.651000	0.27340	0.995000	0.50966	0.880000	0.50808	1.645000	0.37238	1.561000	0.49584	0.655000	0.94253	CGG		0.647	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458	
MST1R	4486	broad.mit.edu;mdanderson.org	37	3	49940431	49940431	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:49940431G>A	ENST00000296474.3	-	1	639	c.612C>T	c.(610-612)gaC>gaT	p.D204D	CTD-2330K9.3_ENST00000419183.1_5'Flank|MST1R_ENST00000344206.4_Silent_p.D204D|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	204	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCACGGCTGCGTCCAGTGAGG	0.622																																						.											0													24.0	26.0	25.0					3																	49940431		2202	4299	6501	SO:0001819	synonymous_variant	4486			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.612C>T	3.37:g.49940431G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B5A944|B5A945|B5A946|B5A947	Silent	SNP	ENST00000296474.3	37	CCDS2807.1																																																																																				0.622	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1		
CACNA1D	776	broad.mit.edu;ucsc.edu;mdanderson.org	37	3	53757945	53757945	+	Silent	SNP	C	C	T	rs562114124		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:53757945C>T	ENST00000350061.5	+	14	2530	c.2019C>T	c.(2017-2019)ggC>ggT	p.G673G	CACNA1D_ENST00000288139.4_Silent_p.G693G|CACNA1D_ENST00000422281.2_Silent_p.G673G	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	673					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGCTGTTTGGCGGCAAGTTTA	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		21775	0.001		0.0	False		,,,				2504	0.0					.											0													144.0	132.0	136.0					3																	53757945		2203	4300	6503	SO:0001819	synonymous_variant	776			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.2019C>T	3.37:g.53757945C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	37	CCDS46848.1																																																																																				0.453	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	
SLMAP	7871	broad.mit.edu	37	3	57843846	57843846	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:57843846G>A	ENST00000428312.1	+	7	741	c.647G>A	c.(646-648)cGg>cAg	p.R216Q	SLMAP_ENST00000295952.3_Missense_Mutation_p.R216Q|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000295951.3_Missense_Mutation_p.R216Q|SLMAP_ENST00000449503.2_Missense_Mutation_p.R216Q|SLMAP_ENST00000383718.3_Missense_Mutation_p.R216Q			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	216					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		CTCTTATCACGGTTAGAAGTT	0.294																																						.											0													117.0	123.0	121.0					3																	57843846		2203	4297	6500	SO:0001583	missense	7871			AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"""Sarcolemmal-associated protein"""	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.647G>A	3.37:g.57843846G>A	ENSP00000398661:p.Arg216Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP	ENST00000428312.1	37		.	.	.	.	.	.	.	.	.	.	G	36	5.602794	0.96614	.	.	ENSG00000163681	ENST00000295951;ENST00000295952;ENST00000383718;ENST00000428312;ENST00000449503	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.73814	0.3635	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.983;0.997;0.997;0.991	T	0.70299	-0.4910	10	0.44086	T	0.13	-8.5479	20.6721	0.99693	0.0:0.0:1.0:0.0	.	216;216;216;216	Q14BN4-2;Q14BN4;Q14BN4-3;Q14BN4-6	.;SLMAP_HUMAN;.;.	Q	216	ENSP00000295951:R216Q;ENSP00000295952:R216Q;ENSP00000373224:R216Q;ENSP00000398661:R216Q;ENSP00000412945:R216Q	ENSP00000295951:R216Q	R	+	2	0	SLMAP	57818886	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.781000	0.91805	2.894000	0.99253	0.591000	0.81541	CGG		0.294	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1	NM_007159	
LMOD3	56203	broad.mit.edu;mdanderson.org;bcgsc.ca	37	3	69168210	69168210	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:69168210C>A	ENST00000420581.2	-	2	1475	c.1296G>T	c.(1294-1296)gaG>gaT	p.E432D	LMOD3_ENST00000475434.1_Missense_Mutation_p.E432D|LMOD3_ENST00000489031.1_Missense_Mutation_p.E432D	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	432						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		CTCCCAACAGCTCCCACATCC	0.542																																						.											0													73.0	77.0	76.0					3																	69168210		1947	4126	6073	SO:0001583	missense	56203			AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.1296G>T	3.37:g.69168210C>A	ENSP00000414670:p.Glu432Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	ENST00000420581.2	37	CCDS46862.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320980	0.41096	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	T;T;T	0.13778	2.56;2.56;2.56	5.84	5.84	0.93424	.	0.090855	0.85682	D	0.000000	T	0.15478	0.0373	M	0.67953	2.075	0.48135	D	0.999595	P	0.45348	0.856	B	0.38842	0.283	T	0.03922	-1.0992	10	0.20046	T	0.44	-33.5411	12.8236	0.57707	0.0:0.8839:0.0:0.1161	.	432	Q0VAK6	LMOD3_HUMAN	D	432	ENSP00000414670:E432D;ENSP00000417210:E432D;ENSP00000418645:E432D	ENSP00000414670:E432D	E	-	3	2	LMOD3	69250900	1.000000	0.71417	0.984000	0.44739	0.879000	0.50718	1.401000	0.34589	2.779000	0.95612	0.591000	0.81541	GAG		0.542	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529	
PPP4R2	151987	broad.mit.edu;mdanderson.org;bcgsc.ca	37	3	73096446	73096446	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:73096446G>A	ENST00000356692.5	+	3	479	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	PPP4R2_ENST00000295862.9_Missense_Mutation_p.E20K|PPP4R2_ENST00000394284.3_Intron			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	76					cellular protein modification process (GO:0006464)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA processing (GO:0006397)|regulation of catalytic activity (GO:0050790)|regulation of double-strand break repair via homologous recombination (GO:0010569)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)	protein binding, bridging (GO:0030674)|protein phosphatase type 4 regulator activity (GO:0030362)			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		CCCTAATGTCGAATATATTCC	0.348																																						.											0													51.0	56.0	54.0					3																	73096446		2203	4299	6502	SO:0001583	missense	151987			AJ271448	CCDS2917.1	3q29	2010-06-18			ENSG00000163605	ENSG00000163605		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	18296	protein-coding gene	gene with protein product		613822				10769191	Standard	NM_174907		Approved		uc003dph.1	Q9NY27	OTTHUMG00000158816	ENST00000356692.5:c.226G>A	3.37:g.73096446G>A	ENSP00000349124:p.Glu76Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1I6|Q2TAJ9|Q498B8|Q8WXX6	Missense_Mutation	SNP	ENST00000356692.5	37	CCDS2917.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255741	0.80135	.	.	ENSG00000163605	ENST00000356692;ENST00000488810;ENST00000295862;ENST00000476505	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.69975	0.3171	M	0.71296	2.17	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.72308	-0.4332	10	0.72032	D	0.01	.	19.3579	0.94422	0.0:0.0:1.0:0.0	.	76	Q9NY27	PP4R2_HUMAN	K	76;76;20;38	ENSP00000349124:E76K;ENSP00000418750:E76K;ENSP00000295862:E20K;ENSP00000420098:E38K	ENSP00000295862:E20K	E	+	1	0	PPP4R2	73179136	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.700000	0.98707	2.576000	0.86940	0.557000	0.71058	GAA		0.348	PPP4R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352321.1	NM_174907	
HTR1F	3355	broad.mit.edu;bcgsc.ca	37	3	88040986	88040986	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:88040986C>T	ENST00000319595.4	+	1	1141	c.1087C>T	c.(1087-1089)Cga>Tga	p.R363*		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	363					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	AAAGCTTGTGCGATGTCGATG	0.338																																						.											0													44.0	47.0	46.0					3																	88040986		2200	4299	6499	SO:0001587	stop_gained	3355			L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.1087C>T	3.37:g.88040986C>T	ENSP00000322924:p.Arg363*	Somatic		WXS	Illumina HiSeq	Phase_I		Nonsense_Mutation	SNP	ENST00000319595.4	37	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	C	32	5.115192	0.94339	.	.	ENSG00000179097	ENST00000319595	.	.	.	5.54	4.59	0.56863	.	0.271359	0.32518	N	0.005996	.	.	.	.	.	.	0.31805	N	0.627955	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	12.5546	0.56246	0.1989:0.801:0.0:0.0	.	.	.	.	X	363	.	ENSP00000322924:R363X	R	+	1	2	HTR1F	88123676	0.995000	0.38212	1.000000	0.80357	0.972000	0.66771	2.287000	0.43505	2.607000	0.88179	0.557000	0.71058	CGA		0.338	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866	
EPHA3	2042	broad.mit.edu;bcgsc.ca	37	3	89498501	89498501	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:89498501T>C	ENST00000336596.2	+	14	2698	c.2473T>C	c.(2473-2475)Tac>Cac	p.Y825H	EPHA3_ENST00000494014.1_Missense_Mutation_p.Y825H	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	825	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AGAGAGACCATACTGGGAGAT	0.438										TSP Lung(6;0.00050)																												.											0													250.0	228.0	235.0					3																	89498501		2203	4300	6503	SO:0001583	missense	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2473T>C	3.37:g.89498501T>C	ENSP00000337451:p.Tyr825His	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.463042	0.84425	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.64438	-0.1;-0.1	5.34	5.34	0.76211	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82604	0.5073	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86236	0.1640	9	.	.	.	.	15.3454	0.74334	0.0:0.0:0.0:1.0	.	825	P29320	EPHA3_HUMAN	H	825	ENSP00000337451:Y825H;ENSP00000419190:Y825H	.	Y	+	1	0	EPHA3	89581191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.993000	0.88291	2.030000	0.59900	0.533000	0.62120	TAC		0.438	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	
CRYBG3	131544	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	97607247	97607247	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:97607247G>A	ENST00000182096.4	+	6	1572	c.1508G>A	c.(1507-1509)gGg>gAg	p.G503E		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2451							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GAAGACCATGGGCTCTTTGAG	0.343																																						.											0													64.0	59.0	60.0					3																	97607247		1818	4070	5888	SO:0001583	missense	131544					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.1508G>A	3.37:g.97607247G>A	ENSP00000182096:p.Gly503Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37		.	.	.	.	.	.	.	.	.	.	G	11.15	1.555254	0.27739	.	.	ENSG00000080200	ENST00000182096	T	0.74421	-0.84	5.54	3.74	0.42951	Beta/gamma crystallin (2);Gamma-crystallin-related (1);	0.404354	0.23782	N	0.044602	T	0.51058	0.1652	N	0.10874	0.06	0.54753	D	0.999988	B	0.19331	0.035	B	0.20767	0.031	T	0.42849	-0.9427	10	0.30854	T	0.27	.	5.8824	0.18862	0.1634:0.0:0.6808:0.1558	.	503	Q68DQ2	CRBG3_HUMAN	E	503	ENSP00000182096:G503E	ENSP00000182096:G503E	G	+	2	0	CRYBG3	99089937	0.487000	0.25988	0.998000	0.56505	0.987000	0.75469	1.347000	0.33975	1.345000	0.45676	0.655000	0.94253	GGG		0.343	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605	
PARP14	54625	broad.mit.edu;ucsc.edu;mdanderson.org	37	3	122420029	122420029	+	Silent	SNP	C	C	T	rs375197249		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:122420029C>T	ENST00000474629.2	+	6	2894	c.2628C>T	c.(2626-2628)caC>caT	p.H876H		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	876	Macro 1. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CCTACCACCACGTGATCCATG	0.582																																						.											0								C		1,4009		0,1,2004	29.0	30.0	30.0		2628	-12.1	0.0	3		30	0,8314		0,0,4157	no	coding-synonymous	PARP14	NM_017554.2		0,1,6161	TT,TC,CC		0.0,0.0249,0.0081		876/1802	122420029	1,12323	2005	4157	6162	SO:0001819	synonymous_variant	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.2628C>T	3.37:g.122420029C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Silent	SNP	ENST00000474629.2	37	CCDS46894.1																																																																																				0.582	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554	
CCDC14	64770	broad.mit.edu	37	3	123675252	123675252	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:123675252G>A	ENST00000488653.2	-	3	343	c.253C>T	c.(253-255)Cgt>Tgt	p.R85C	CCDC14_ENST00000433542.2_Missense_Mutation_p.R85C|CCDC14_ENST00000485727.1_De_novo_Start_OutOfFrame|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_De_novo_Start_OutOfFrame			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	85					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GCATTAAAACGTGGTATTTTT	0.284																																						.											0													65.0	62.0	63.0					3																	123675252		692	1585	2277	SO:0001583	missense	64770			AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.253C>T	3.37:g.123675252G>A	ENSP00000420180:p.Arg85Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	ENST00000488653.2	37		.	.	.	.	.	.	.	.	.	.	G	3.595	-0.082774	0.07141	.	.	ENSG00000175455	ENST00000488653;ENST00000433542;ENST00000409697	T;T;T	0.50277	0.77;0.75;0.77	5.43	4.55	0.56014	.	.	.	.	.	T	0.32763	0.0840	N	0.21448	0.665	0.24462	N	0.99443	B;B	0.28082	0.2;0.2	B;B	0.21917	0.037;0.037	T	0.17715	-1.0360	9	0.44086	T	0.13	.	9.8274	0.40921	0.0914:0.0:0.9086:0.0	.	85;85	Q49A88;Q49A88-6	CCD14_HUMAN;.	C	85;85;66	ENSP00000420180:R85C;ENSP00000395706:R85C;ENSP00000386866:R66C	ENSP00000386866:R66C	R	-	1	0	CCDC14	125157942	0.953000	0.32496	0.096000	0.21009	0.182000	0.23217	3.213000	0.51153	1.527000	0.49086	0.655000	0.94253	CGT		0.284	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757	
KALRN	8997	broad.mit.edu;bcgsc.ca	37	3	123946899	123946899	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:123946899G>T	ENST00000240874.3	+	2	287	c.130G>T	c.(130-132)Gcc>Tcc	p.A44S	KALRN_ENST00000460856.1_Missense_Mutation_p.A44S|KALRN_ENST00000360013.3_Missense_Mutation_p.A44S	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	44	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAAAAGGTGGCCTTCGTGTC	0.448																																						.											0													258.0	247.0	250.0					3																	123946899		2203	4300	6503	SO:0001583	missense	8997			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.130G>T	3.37:g.123946899G>T	ENSP00000240874:p.Ala44Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	30|30	5.057071|5.057071	0.93846|0.93846	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000448253;ENST00000354186	D;D;D|.	0.84298|.	-1.83;-1.83;-1.83|.	4.79|4.79	4.79|4.79	0.61399|0.61399	Cellular retinaldehyde-binding/triple function, C-terminal (4);|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|D	0.82416|0.82416	0.5032|0.5032	M|M	0.85710|0.85710	2.77|2.77	0.80722|0.80722	D|D	1|1	P;D;P|.	0.69078|.	0.946;0.997;0.933|.	P;D;P|.	0.80764|.	0.719;0.994;0.597|.	D|D	0.84731|0.84731	0.0745|0.0745	10|5	0.87932|.	D|.	0|.	.|.	18.0511|18.0511	0.89349|0.89349	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	44;44;44|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	S|C	44|71;21	ENSP00000418611:A44S;ENSP00000240874:A44S;ENSP00000353109:A44S|.	ENSP00000240874:A44S|.	A|W	+|+	1|3	0|0	KALRN|KALRN	125429589|125429589	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.262000|8.262000	0.89862|0.89862	2.485000|2.485000	0.83878|0.83878	0.650000|0.650000	0.86243|0.86243	GCC|TGG		0.448	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947	
MCM2	4171	broad.mit.edu;bcgsc.ca	37	3	127339608	127339608	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:127339608C>T	ENST00000265056.7	+	14	2577	c.2333C>T	c.(2332-2334)gCg>gTg	p.A778V	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	778					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						GAGGCCCACGCGCGCATCCAT	0.582																																						.											0													119.0	110.0	113.0					3																	127339608		2203	4300	6503	SO:0001583	missense	4171			X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.2333C>T	3.37:g.127339608C>T	ENSP00000265056:p.Ala778Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	CCDS3043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.49|18.49	3.636410|3.636410	0.67130|0.67130	.|.	.|.	ENSG00000073111|ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142|ENST00000491422	T|.	0.21031|.	2.03|.	5.7|5.7	4.82|4.82	0.62117|0.62117	.|.	0.047367|.	0.85682|.	D|.	0.000000|.	D|D	0.91157|0.91157	0.7215|0.7215	H|H	0.99143|0.99143	4.445|4.445	0.80722|0.80722	D|D	1|1	B;B;P|.	0.50443|.	0.214;0.287;0.935|.	B;B;P|.	0.48921|.	0.053;0.172;0.595|.	D|D	0.95135|0.95135	0.8258|0.8258	10|5	0.87932|.	D|.	0|.	-29.4073|-29.4073	16.8658|16.8658	0.86029|0.86029	0.0:0.8717:0.1283:0.0|0.0:0.8717:0.1283:0.0	.|.	828;648;778|.	F5H1E9;B4DSV5;P49736|.	.;.;MCM2_HUMAN|.	V|C	778;682;828|710	ENSP00000265056:A778V|.	ENSP00000265056:A778V|.	A|R	+|+	2|1	0|0	MCM2|MCM2	128822298|128822298	1.000000|1.000000	0.71417|0.71417	0.823000|0.823000	0.32752|0.32752	0.005000|0.005000	0.04900|0.04900	7.344000|7.344000	0.79328|0.79328	1.408000|1.408000	0.46895|0.46895	-0.171000|-0.171000	0.13296|0.13296	GCG|CGC		0.582	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1		
DNAJC13	23317	broad.mit.edu;mdanderson.org;bcgsc.ca	37	3	132172979	132172979	+	Missense_Mutation	SNP	C	C	T	rs147315244	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:132172979C>T	ENST00000260818.6	+	9	1158	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	304					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AGGGCAAGTACGGAAATATTC	0.318													C|||	2	0.000399361	0.0	0.0029	5008	,	,		12225	0.0		0.0	False		,,,				2504	0.0					.											0								C	TRP/ARG	0,4402		0,0,2201	75.0	88.0	83.0		910	4.7	1.0	3	dbSNP_134	83	1,8565	1.2+/-3.3	0,1,4282	yes	missense	DNAJC13	NM_015268.3	101	0,1,6483	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	304/2244	132172979	1,12967	2201	4283	6484	SO:0001583	missense	23317			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.910C>T	3.37:g.132172979C>T	ENSP00000260818:p.Arg304Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	CCDS33857.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	21.2	4.116152	0.77323	0.0	1.17E-4	ENSG00000138246	ENST00000260818	T	0.47177	0.85	5.58	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.69700	0.3140	M	0.84326	2.69	0.58432	D	0.999999	D;D	0.76494	0.999;0.997	D;P	0.71184	0.972;0.813	T	0.75258	-0.3381	10	0.87932	D	0	.	13.9305	0.63991	0.161:0.839:0.0:0.0	.	304;304	A7E2Y5;O75165	.;DJC13_HUMAN	W	304	ENSP00000260818:R304W	ENSP00000260818:R304W	R	+	1	2	DNAJC13	133655669	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	2.165000	0.42396	1.315000	0.45114	0.650000	0.86243	CGG		0.318	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268	
DNAJC13	23317	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	132221145	132221145	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:132221145G>A	ENST00000260818.6	+	40	4797	c.4549G>A	c.(4549-4551)Gta>Ata	p.V1517I		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1517					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TATTCCCCGCGTAGCTGCTCT	0.403																																						.											0													131.0	126.0	127.0					3																	132221145		2203	4300	6503	SO:0001583	missense	23317			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.4549G>A	3.37:g.132221145G>A	ENSP00000260818:p.Val1517Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856146	0.32791	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.56444	0.46	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.141484	0.49305	D	0.000159	T	0.26231	0.0640	N	0.01576	-0.805	0.33835	D	0.630672	B	0.24882	0.113	B	0.09377	0.004	T	0.33803	-0.9854	10	0.36615	T	0.2	.	15.0241	0.71653	0.0:0.1418:0.8581:0.0	.	1517	O75165	DJC13_HUMAN	I	1517;164	ENSP00000260818:V1517I	ENSP00000260818:V1517I	V	+	1	0	DNAJC13	133703835	1.000000	0.71417	0.748000	0.31131	0.341000	0.28922	4.145000	0.58065	2.585000	0.87301	0.650000	0.86243	GTA		0.403	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268	
C3orf58	205428	broad.mit.edu	37	3	143691481	143691481	+	Missense_Mutation	SNP	G	G	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:143691481G>C	ENST00000315691.3	+	1	842	c.307G>C	c.(307-309)Ggc>Cgc	p.G103R	C3orf58_ENST00000493396.1_3'UTR|C3orf58_ENST00000495414.1_5'Flank|C3orf58_ENST00000441925.2_5'Flank	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	103					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCGCGAGGGCGGCCGCCGCCG	0.716																																						.											0													15.0	19.0	18.0					3																	143691481		1964	3965	5929	SO:0001583	missense	205428			AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.307G>C	3.37:g.143691481G>C	ENSP00000320081:p.Gly103Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592068	0.46214	.	.	ENSG00000181744	ENST00000315691	T	0.33654	1.4	3.81	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.18173	0.0436	N	0.19112	0.55	0.80722	D	1	B	0.30914	0.3	B	0.29267	0.1	T	0.08785	-1.0705	10	0.32370	T	0.25	.	2.6503	0.04996	0.2473:0.0:0.5175:0.2351	.	103	Q8NDZ4	CC058_HUMAN	R	103	ENSP00000320081:G103R	ENSP00000320081:G103R	G	+	1	0	C3orf58	145174171	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.147000	0.64851	1.981000	0.57761	0.561000	0.74099	GGC		0.716	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552	
TM4SF1	4071	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	149093475	149093475	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:149093475G>A	ENST00000305366.3	-	2	576	c.259C>T	c.(259-261)Cga>Tga	p.R87*	TM4SF1-AS1_ENST00000484046.1_RNA|TM4SF1_ENST00000472441.1_De_novo_Start_OutOfFrame|TM4SF1-AS1_ENST00000496491.1_RNA	NM_014220.2	NP_055035.1	P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	87						integral component of plasma membrane (GO:0005887)				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			ACCGCACATCGTTTGCCACAG	0.512																																						.											0													193.0	167.0	176.0					3																	149093475		2203	4300	6503	SO:0001587	stop_gained	4071			M90657	CCDS3143.1	3q21-q25	2005-03-21	2005-03-21		ENSG00000169908	ENSG00000169908			11853	protein-coding gene	gene with protein product		191155	"""transmembrane 4 superfamily member 1"""	M3S1		1565644	Standard	NM_014220		Approved	L6	uc003exb.1	P30408	OTTHUMG00000159597	ENST00000305366.3:c.259C>T	3.37:g.149093475G>A	ENSP00000304277:p.Arg87*	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IB51	Nonsense_Mutation	SNP	ENST00000305366.3	37	CCDS3143.1	.	.	.	.	.	.	.	.	.	.	G	37	6.444988	0.97572	.	.	ENSG00000169908	ENST00000305366;ENST00000383054	.	.	.	5.77	0.387	0.16259	.	0.141035	0.47852	D	0.000210	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.6632	14.9699	0.71226	0.0:0.0:0.4858:0.5142	.	.	.	.	X	87	.	ENSP00000304277:R87X	R	-	1	2	TM4SF1	150576165	0.999000	0.42202	0.881000	0.34555	0.947000	0.59692	0.628000	0.24522	-0.156000	0.11079	-0.262000	0.10625	CGA		0.512	TM4SF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356368.1		
WDR49	151790	broad.mit.edu	37	3	167272531	167272531	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:167272531G>T	ENST00000308378.3	-	6	1012	c.707C>A	c.(706-708)gCt>gAt	p.A236D	WDR49_ENST00000476376.1_Missense_Mutation_p.A61D|WDR49_ENST00000453925.2_Missense_Mutation_p.A289D|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	236										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AATATCCACAGCTCCATCTTG	0.363																																						.											0													148.0	139.0	142.0					3																	167272531		2203	4298	6501	SO:0001583	missense	151790			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.707C>A	3.37:g.167272531G>T	ENSP00000311343:p.Ala236Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.20|11.20	1.568457|1.568457	0.28003|0.28003	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925|ENST00000472600	T;T;T|.	0.55930|.	0.49;1.26;0.89|.	5.36|5.36	1.22|1.22	0.21188|0.21188	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.703897|.	0.14640|.	N|.	0.307292|.	T|T	0.32133|0.32133	0.0819|0.0819	L|L	0.38531|0.38531	1.155|1.155	0.25661|0.25661	N|N	0.986003|0.986003	B;B|.	0.14805|.	0.011;0.009|.	B;B|.	0.13407|.	0.009;0.006|.	T|T	0.24476|0.24476	-1.0159|-1.0159	10|5	0.32370|.	T|.	0.25|.	.|.	5.3587|5.3587	0.16075|0.16075	0.1605:0.0:0.5575:0.2821|0.1605:0.0:0.5575:0.2821	.|.	289;236|.	E7EQK3;Q8IV35|.	.;WDR49_HUMAN|.	D|M	236;61;289|301	ENSP00000311343:A236D;ENSP00000420508:A61D;ENSP00000410863:A289D|.	ENSP00000311343:A236D|.	A|L	-|-	2|1	0|2	WDR49|WDR49	168755225|168755225	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.632000|0.632000	0.37999|0.37999	1.040000|1.040000	0.30278|0.30278	0.230000|0.230000	0.21059|0.21059	0.585000|0.585000	0.79938|0.79938	GCT|CTG		0.363	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824	
DCUN1D1	54165	broad.mit.edu	37	3	182681755	182681755	+	Silent	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:182681755A>G	ENST00000292782.4	-	3	456	c.303T>C	c.(301-303)agT>agC	p.S101S	DCUN1D1_ENST00000469954.1_Silent_p.S86S	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	101	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					ubiquitin ligase complex (GO:0000151)		p.S101R(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TAATCAACACACTAATGCTGG	0.418																																						.											1	Substitution - Missense(1)	ovary(1)											152.0	125.0	134.0					3																	182681755		2203	4300	6503	SO:0001819	synonymous_variant	54165			AF292100, AK056335	CCDS3240.1	3q26.3	2013-06-10	2013-06-10		ENSG00000043093	ENSG00000043093			18184	protein-coding gene	gene with protein product	"""squamous cell carcinoma related oncogene"""	605905	"""DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)"""			10777668, 15988528	Standard	NM_020640		Approved	RP42, SCRO, DCUN1L1, Tes3, SCCRO	uc003fld.1	Q96GG9	OTTHUMG00000158314	ENST00000292782.4:c.303T>C	3.37:g.182681755A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B2RB37|Q7L3G9|Q8TEX7|Q9H6M1|Q9HCT3	Silent	SNP	ENST00000292782.4	37	CCDS3240.1																																																																																				0.418	DCUN1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350658.1	NM_020640	
DGKG	1608	broad.mit.edu;mdanderson.org;bcgsc.ca	37	3	185993360	185993360	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:185993360G>A	ENST00000265022.3	-	10	1425	c.886C>T	c.(886-888)Cgc>Tgc	p.R296C	DGKG_ENST00000344484.4_Missense_Mutation_p.R296C|DGKG_ENST00000382164.4_Missense_Mutation_p.R296C|DGKG_ENST00000544847.1_Missense_Mutation_p.R296C	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	296					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CCTTGCTTGCGGACGCCCATG	0.547																																						.											0													114.0	99.0	104.0					3																	185993360		2203	4300	6503	SO:0001583	missense	1608			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.886C>T	3.37:g.185993360G>A	ENSP00000265022:p.Arg296Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079743	0.55753	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691;ENST00000437018	D;D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16;-3.16	5.31	3.47	0.39725	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.140036	0.48767	D	0.000164	D	0.94195	0.8137	L	0.55990	1.75	0.58432	D	0.999994	D;D;D;D	0.76494	0.997;0.997;0.999;0.999	P;P;P;P	0.61722	0.88;0.828;0.88;0.893	D	0.93299	0.6675	10	0.72032	D	0.01	.	10.2937	0.43612	0.0:0.2752:0.5826:0.1422	.	296;296;296;296	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	C	296;296;296;296;299;47	ENSP00000265022:R296C;ENSP00000339777:R296C;ENSP00000371599:R296C;ENSP00000440507:R296C;ENSP00000395526:R47C	ENSP00000265022:R296C	R	-	1	0	DGKG	187476054	0.792000	0.28813	0.643000	0.29450	0.945000	0.59286	1.063000	0.30567	0.680000	0.31366	0.655000	0.94253	CGC		0.547	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3		
TACC3	10460	broad.mit.edu	37	4	1746487	1746487	+	Silent	SNP	G	G	A	rs148572882		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:1746487G>A	ENST00000313288.4	+	15	2485	c.2379G>A	c.(2377-2379)gcG>gcA	p.A793A		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	793					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AGGCGGAAGCGTTGGCCCTCC	0.672																																					Ovarian(120;482 2294 11894 35824)	.											0								G		1,4391	2.1+/-5.4	0,1,2195	27.0	28.0	28.0		2379	-10.4	0.0	4	dbSNP_134	28	1,8595		0,1,4297	no	coding-synonymous	TACC3	NM_006342.1		0,2,6492	AA,AG,GG		0.0116,0.0228,0.0154		793/839	1746487	2,12986	2196	4298	6494	SO:0001819	synonymous_variant	10460			AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.2379G>A	4.37:g.1746487G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q2NKK4|Q3KQS5|Q9UMQ1	Silent	SNP	ENST00000313288.4	37	CCDS3352.1																																																																																				0.672	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2		
HTT	3064	broad.mit.edu;ucsc.edu;mdanderson.org	37	4	3107131	3107131	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:3107131G>A	ENST00000355072.5	+	5	721	c.576G>A	c.(574-576)gaG>gaA	p.E192E		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	192					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GGTTTGCTGAGCTGGCTCACC	0.532																																						.											0													115.0	119.0	118.0					4																	3107131		2151	4272	6423	SO:0001819	synonymous_variant	3064			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.576G>A	4.37:g.3107131G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q9UQB7	Silent	SNP	ENST00000355072.5	37	CCDS43206.1																																																																																				0.532	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111	
SORCS2	57537	broad.mit.edu	37	4	7725501	7725501	+	Silent	SNP	C	C	T	rs566460730	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:7725501C>T	ENST00000507866.2	+	19	2611	c.2502C>T	c.(2500-2502)acC>acT	p.T834T	SORCS2_ENST00000329016.9_Silent_p.T662T	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	834	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TTACACTGACCGGGGAGCCCA	0.612													C|||	2	0.000399361	0.0	0.0	5008	,	,		17345	0.001		0.001	False		,,,				2504	0.0					.											0													129.0	131.0	130.0					4																	7725501		2078	4198	6276	SO:0001819	synonymous_variant	57537			AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2502C>T	4.37:g.7725501C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q9P2L7	Silent	SNP	ENST00000507866.2	37	CCDS47008.1																																																																																				0.612	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777	
SLIT2	9353	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	20533609	20533609	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:20533609G>A	ENST00000504154.1	+	17	1868	c.1616G>A	c.(1615-1617)cGt>cAt	p.R539H	SLIT2_ENST00000273739.5_Missense_Mutation_p.R543H|SLIT2_ENST00000503823.1_Missense_Mutation_p.R531H|SLIT2_ENST00000503837.1_Missense_Mutation_p.R535H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	539					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTCTTCAGGCGTCTCAATAAT	0.279																																						.											0													45.0	44.0	44.0					4																	20533609		2203	4294	6497	SO:0001583	missense	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1616G>A	4.37:g.20533609G>A	ENSP00000422591:p.Arg539His	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757477	0.89843	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.35537	0.0935	N	0.20807	0.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.71870	0.975;0.9	T	0.05767	-1.0865	10	0.14252	T	0.57	.	19.8677	0.96824	0.0:0.0:1.0:0.0	.	531;539	O94813-3;O94813	.;SLIT2_HUMAN	H	531;539;543;535;535	ENSP00000427548:R531H;ENSP00000422591:R539H;ENSP00000273739:R543H;ENSP00000422261:R535H	ENSP00000273739:R543H	R	+	2	0	SLIT2	20142707	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	9.230000	0.95299	2.709000	0.92574	0.655000	0.94253	CGT		0.279	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		
CCKAR	886	broad.mit.edu;mdanderson.org;bcgsc.ca	37	4	26483646	26483646	+	Missense_Mutation	SNP	A	A	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:26483646A>C	ENST00000295589.3	-	5	1095	c.901T>G	c.(901-903)Tcc>Gcc	p.S301A		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	301					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TTGGCTGCGGAGCTGTTACTC	0.612																																						.											0													103.0	90.0	95.0					4																	26483646		2203	4300	6503	SO:0001583	missense	886			L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.901T>G	4.37:g.26483646A>C	ENSP00000295589:p.Ser301Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	A	9.149	1.015752	0.19355	.	.	ENSG00000163394	ENST00000295589	T	0.39056	1.1	5.16	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.112402	0.64402	D	0.000006	T	0.33206	0.0855	L	0.52206	1.635	0.39202	D	0.963159	B	0.11235	0.004	B	0.22152	0.038	T	0.12066	-1.0562	10	0.08599	T	0.76	.	9.7742	0.40609	0.9156:0.0:0.0844:0.0	.	301	P32238	CCKAR_HUMAN	A	301	ENSP00000295589:S301A	ENSP00000295589:S301A	S	-	1	0	CCKAR	26092744	1.000000	0.71417	0.977000	0.42913	0.331000	0.28603	5.896000	0.69822	0.824000	0.34613	0.379000	0.24179	TCC		0.612	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2		
TBC1D1	23216	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	37962188	37962188	+	Intron	SNP	C	C	T	rs544810432		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:37962188C>T	ENST00000261439.4	+	3	772				TBC1D1_ENST00000508802.1_Intron|PTTG2_ENST00000504686.1_Missense_Mutation_p.R45C	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1						membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TTTAACACGACGTTTTGGCAA	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		20063	0.0		0.001	False		,,,				2504	0.0					.											0													71.0	75.0	73.0					4																	37962188		2201	4300	6501	SO:0001627	intron_variant	10744			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.418-53942C>T	4.37:g.37962188C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	C	4.225	0.040670	0.08196	.	.	ENSG00000250254	ENST00000504686	T	0.54071	0.59	1.89	-0.253	0.12996	.	.	.	.	.	T	0.31575	0.0801	N	0.17674	0.51	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.21008	-1.0258	9	0.66056	D	0.02	.	3.0078	0.06034	0.2579:0.5633:0.0:0.1789	.	45	Q9NZH5-2	.	C	45	ENSP00000424261:R45C	ENSP00000424261:R45C	R	+	1	0	PTTG2	37638583	0.012000	0.17670	0.000000	0.03702	0.000000	0.00434	-0.600000	0.05693	-0.316000	0.08690	-1.559000	0.00887	CGT		0.463	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173	
SHROOM3	57619	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	77691990	77691990	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:77691990G>A	ENST00000296043.6	+	10	6514	c.5561G>A	c.(5560-5562)cGt>cAt	p.R1854H	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1854	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CTCTCGGGGCGTCTAGCCCGT	0.517																																						.											0													132.0	132.0	132.0					4																	77691990		2203	4300	6503	SO:0001583	missense	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.5561G>A	4.37:g.77691990G>A	ENSP00000296043:p.Arg1854His	Somatic		WXS	Illumina HiSeq	Phase_I	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	31	5.096592	0.94197	.	.	ENSG00000138771	ENST00000296043	T	0.67171	-0.25	5.53	5.53	0.82687	Apx/shroom, ASD2 (2);	0.000000	0.64402	D	0.000001	D	0.85066	0.5612	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86671	0.1910	10	0.87932	D	0	-21.8478	19.6591	0.95857	0.0:0.0:1.0:0.0	.	1854	Q8TF72	SHRM3_HUMAN	H	1854	ENSP00000296043:R1854H	ENSP00000296043:R1854H	R	+	2	0	SHROOM3	77911014	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	9.657000	0.98554	2.879000	0.98667	0.650000	0.86243	CGT		0.517	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859	
WDFY3	23001	broad.mit.edu	37	4	85758218	85758218	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:85758218A>G	ENST00000295888.4	-	7	847	c.440T>C	c.(439-441)aTg>aCg	p.M147T	WDFY3_ENST00000322366.6_Missense_Mutation_p.M147T	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	147					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGGCACTGACATTGTTGTCAT	0.403																																						.											0													73.0	67.0	69.0					4																	85758218		2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.440T>C	4.37:g.85758218A>G	ENSP00000295888:p.Met147Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	A	13.53	2.264860	0.40095	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.15834	2.39;2.39	5.76	5.76	0.90799	.	0.111475	0.85682	D	0.000000	T	0.09598	0.0236	N	0.08118	0	0.80722	D	1	B;B	0.33103	0.397;0.019	B;B	0.30782	0.12;0.008	T	0.34900	-0.9810	10	0.17832	T	0.49	.	16.0697	0.80914	1.0:0.0:0.0:0.0	.	147;147	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	T	147	ENSP00000318466:M147T;ENSP00000295888:M147T	ENSP00000295888:M147T	M	-	2	0	WDFY3	85977242	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.157000	0.94714	2.190000	0.69967	0.374000	0.22700	ATG		0.403	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
ADH1C	126	broad.mit.edu	37	4	100268909	100268909	+	RNA	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:100268909C>T	ENST00000510055.1	-	0	287				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	CACCTTAATGCGAACTTCATG	0.333																																						.											0													67.0	64.0	65.0					4																	100268909		2203	4300	6503			126			M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100268909C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	RNA	SNP	ENST00000510055.1	37																																																																																					0.333	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000365189.2	NM_000669	
FAT4	79633	broad.mit.edu	37	4	126389786	126389786	+	Missense_Mutation	SNP	A	A	G	rs183593425		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:126389786A>G	ENST00000394329.3	+	11	12032	c.12019A>G	c.(12019-12021)Agt>Ggt	p.S4007G	FAT4_ENST00000335110.5_Missense_Mutation_p.S2270G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4007	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CACGATTAAAAGTCATGCCTT	0.388													A|||	1	0.000199681	0.0	0.0	5008	,	,		15216	0.001		0.0	False		,,,				2504	0.0					.											0													78.0	77.0	77.0					4																	126389786		2203	4300	6503	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12019A>G	4.37:g.126389786A>G	ENSP00000377862:p.Ser4007Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	15.46	2.840879	0.51057	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.78707	-1.2;-1.2	5.13	5.13	0.70059	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.176916	0.26262	U	0.025385	T	0.78181	0.4243	L	0.51914	1.62	0.37495	D	0.916531	B;B;B	0.29835	0.135;0.258;0.218	B;B;B	0.39738	0.082;0.308;0.082	T	0.80899	-0.1176	10	0.56958	D	0.05	.	15.0081	0.71527	1.0:0.0:0.0:0.0	.	2270;4007;4007	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	G	4007;2270	ENSP00000377862:S4007G;ENSP00000335169:S2270G	ENSP00000335169:S2270G	S	+	1	0	FAT4	126609236	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.922000	0.56462	1.943000	0.56356	0.473000	0.43528	AGT		0.388	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
DCHS2	54798	broad.mit.edu	37	4	155163876	155163876	+	Silent	SNP	C	C	T	rs558078073		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:155163876C>T	ENST00000357232.4	-	22	5624	c.5625G>A	c.(5623-5625)acG>acA	p.T1875T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1875	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGATTACAGTCGTATTAGAAA	0.408																																						.											0													132.0	123.0	126.0					4																	155163876		2203	4300	6503	SO:0001819	synonymous_variant	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5625G>A	4.37:g.155163876C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	CCDS3785.1																																																																																				0.408	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
DCHS2	54798	broad.mit.edu;ucsc.edu;mdanderson.org	37	4	155254036	155254036	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:155254036C>T	ENST00000357232.4	-	9	1826	c.1827G>A	c.(1825-1827)gcG>gcA	p.A609A	DCHS2_ENST00000507542.1_5'Flank|DCHS2_ENST00000339452.1_Silent_p.A1108A	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	609	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAAGTGGGTGCGCCTGTGTTT	0.552																																						.											0													67.0	66.0	66.0					4																	155254036		2203	4300	6503	SO:0001819	synonymous_variant	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1827G>A	4.37:g.155254036C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	CCDS3785.1																																																																																				0.552	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
FGB	2244	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	155487066	155487066	+	Missense_Mutation	SNP	G	G	A	rs571624045		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:155487066G>A	ENST00000302068.4	+	2	284	c.221G>A	c.(220-222)cGt>cAt	p.R74H	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	74			Missing (in New York-1). {ECO:0000269|PubMed:3156856}.|R -> C (in Nijmegen). {ECO:0000269|PubMed:1565641}.		blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TATCGGGCTCGTCCAGCCAAA	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14457	0.0		0.0	False		,,,				2504	0.0				NSCLC(106;1133 1613 21870 46110 52656)	.											0													33.0	36.0	35.0					4																	155487066		2202	4298	6500	SO:0001583	missense	2244				CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.221G>A	4.37:g.155487066G>A	ENSP00000306099:p.Arg74His	Somatic		WXS	Illumina HiSeq	Phase_I	A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420758	0.83559	.	.	ENSG00000171564	ENST00000302068;ENST00000537843	T	0.69561	-0.41	5.21	5.21	0.72293	.	0.048577	0.85682	D	0.000000	T	0.80839	0.4700	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.82608	-0.0373	10	0.87932	D	0	.	19.1257	0.93382	0.0:0.0:1.0:0.0	.	74	P02675	FIBB_HUMAN	H	74;57	ENSP00000306099:R74H	ENSP00000306099:R74H	R	+	2	0	FGB	155706516	1.000000	0.71417	0.998000	0.56505	0.596000	0.36781	6.249000	0.72427	2.597000	0.87782	0.591000	0.81541	CGT		0.587	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141	
FAM198B	51313	broad.mit.edu;ucsc.edu;mdanderson.org	37	4	159076877	159076877	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:159076877C>T	ENST00000296530.8	-	3	1632	c.1011G>A	c.(1009-1011)caG>caA	p.Q337Q	FAM198B_ENST00000585682.1_Silent_p.Q337Q|FAM198B_ENST00000589306.1_5'UTR|FAM198B_ENST00000393807.5_Silent_p.Q345Q	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	337						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GTTTCAGCAACTGCTGATAAG	0.473																																						.											0													106.0	92.0	96.0					4																	159076877		2203	4299	6502	SO:0001819	synonymous_variant	51313				CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.1011G>A	4.37:g.159076877C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Silent	SNP	ENST00000296530.8	37	CCDS3798.1																																																																																				0.473	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613	
GALNT7	51809	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	174169387	174169387	+	Missense_Mutation	SNP	G	G	A	rs201773910	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:174169387G>A	ENST00000265000.4	+	2	466	c.383G>A	c.(382-384)cGc>cAc	p.R128H	GALNT7_ENST00000512285.1_Missense_Mutation_p.R128H	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	128					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		CCTGTGCTTCGCCCAGGGATC	0.512													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18950	0.0		0.0	False		,,,				2504	0.001					.											0													83.0	82.0	83.0					4																	174169387		2203	4300	6503	SO:0001583	missense	51809			AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"""Glycosyltransferase family 2 domain containing"""	4129	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 7"""	605005	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"""			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.383G>A	4.37:g.174169387G>A	ENSP00000265000:p.Arg128His	Somatic		WXS	Illumina HiSeq	Phase_I	B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	ENST00000265000.4	37	CCDS3815.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.60	1.687301	0.29962	.	.	ENSG00000109586	ENST00000265000;ENST00000512285	T;T	0.57107	0.42;1.46	5.93	4.21	0.49690	.	0.898146	0.09841	N	0.748891	T	0.49795	0.1578	L	0.52573	1.65	0.48632	D	0.999687	B	0.11235	0.004	B	0.04013	0.001	T	0.45848	-0.9233	10	0.72032	D	0.01	.	12.1843	0.54229	0.1364:0.0:0.8636:0.0	.	128	Q86SF2	GALT7_HUMAN	H	128	ENSP00000265000:R128H;ENSP00000427050:R128H	ENSP00000265000:R128H	R	+	2	0	GALNT7	174405962	1.000000	0.71417	1.000000	0.80357	0.055000	0.15305	3.260000	0.51523	1.533000	0.49186	-0.140000	0.14226	CGC		0.512	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423	
F11	2160	broad.mit.edu;mdanderson.org;bcgsc.ca	37	4	187209727	187209727	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:187209727G>A	ENST00000403665.2	+	15	2189	c.1837G>A	c.(1837-1839)Gag>Aag	p.E613K	F11-AS1_ENST00000505103.1_RNA|F11_ENST00000264692.4_Missense_Mutation_p.E561K	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	613	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CAACGTGGTCGAGTACGTGGA	0.567																																						.											0													120.0	116.0	117.0					4																	187209727		2203	4300	6503	SO:0001583	missense	2160			M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"""plasma thromboplastin antecedent"""	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.1837G>A	4.37:g.187209727G>A	ENSP00000384957:p.Glu613Lys	Somatic		WXS	Illumina HiSeq	Phase_I	D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	ENST00000403665.2	37	CCDS3847.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629525	0.46944	.	.	ENSG00000088926	ENST00000403665;ENST00000264692	D;D	0.88201	-2.35;-2.35	5.49	2.56	0.30785	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.144296	0.47455	N	0.000230	T	0.64702	0.2622	N	0.00788	-1.185	0.30559	N	0.764699	B	0.23377	0.084	B	0.17098	0.017	T	0.59611	-0.7422	10	0.17369	T	0.5	.	7.4289	0.27115	0.3207:0.0:0.6793:0.0	.	613	P03951	FA11_HUMAN	K	613;561	ENSP00000384957:E613K;ENSP00000264692:E561K	ENSP00000264692:E561K	E	+	1	0	F11	187446721	0.220000	0.23631	0.395000	0.26283	0.974000	0.67602	0.649000	0.24843	0.262000	0.21774	0.555000	0.69702	GAG		0.567	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4		
FAT1	2195	broad.mit.edu;ucsc.edu;mdanderson.org	37	4	187629557	187629557	+	Silent	SNP	G	G	A	rs202036099		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:187629557G>A	ENST00000441802.2	-	2	1634	c.1425C>T	c.(1423-1425)aaC>aaT	p.N475N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	475	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAATGGGCACGTTCTCATCAA	0.473										HNSCC(5;0.00058)			g|||	1	0.000199681	0.0	0.0014	5008	,	,		20713	0.0		0.0	False		,,,				2504	0.0				Colon(197;1040 2055 4143 4984 49344)	.											0													160.0	155.0	157.0					4																	187629557		2024	4187	6211	SO:0001819	synonymous_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1425C>T	4.37:g.187629557G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000441802.2	37	CCDS47177.1																																																																																				0.473	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
TERT	7015	broad.mit.edu	37	5	1293799	1293799	+	Missense_Mutation	SNP	G	G	A	rs539667998		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:1293799G>A	ENST00000310581.5	-	2	1259	c.1202C>T	c.(1201-1203)gCg>gTg	p.A401V	TERT_ENST00000508104.2_Missense_Mutation_p.A401V|TERT_ENST00000296820.5_Missense_Mutation_p.A401V|TERT_ENST00000522877.1_5'Flank|TERT_ENST00000334602.6_Missense_Mutation_p.A401V	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	401	CP motif.|QFP motif.|RNA-interacting domain 2.|Required for oligomerization.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	GGGGCACTGCGCGTGGTTCCC	0.697									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				G|||	1	0.000199681	0.0	0.0	5008	,	,		15406	0.001		0.0	False		,,,				2504	0.0					.											0													12.0	14.0	13.0					5																	1293799		2165	4273	6438	SO:0001583	missense	7015	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1202C>T	5.37:g.1293799G>A	ENSP00000309572:p.Ala401Val	Somatic		WXS	Illumina HiSeq	Phase_I	O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547628	0.45383	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.96885	-4.16;-4.13;-4.07;-4.13	4.38	1.41	0.22369	.	0.457119	0.24980	N	0.034069	D	0.95655	0.8587	M	0.71581	2.175	0.09310	N	1	B;D;B	0.76494	0.213;0.999;0.136	B;P;B	0.59012	0.034;0.85;0.015	D	0.88240	0.2909	10	0.30854	T	0.27	-30.7517	1.6145	0.02701	0.1842:0.2005:0.4091:0.2062	.	401;401;401	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	V	401	ENSP00000309572:A401V;ENSP00000296820:A401V;ENSP00000334346:A401V;ENSP00000426042:A401V	ENSP00000296820:A401V	A	-	2	0	TERT	1346799	0.000000	0.05858	0.506000	0.27664	0.801000	0.45260	0.165000	0.16564	0.305000	0.22832	0.549000	0.68633	GCG		0.697	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2		
ADAMTS16	170690	broad.mit.edu;mdanderson.org;bcgsc.ca	37	5	5239898	5239898	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:5239898T>C	ENST00000274181.7	+	16	2521	c.2383T>C	c.(2383-2385)Tac>Cac	p.Y795H		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	795	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCTCAGAAGGTACTACCTGAA	0.512																																						.											0													118.0	112.0	114.0					5																	5239898		1895	4112	6007	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2383T>C	5.37:g.5239898T>C	ENSP00000274181:p.Tyr795His	Somatic		WXS	Illumina HiSeq	Phase_I	C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.924234	0.73213	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.57107	0.42	5.56	5.56	0.83823	ADAM-TS Spacer 1 (1);	0.000000	0.64402	D	0.000001	T	0.77356	0.4118	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.983	T	0.82293	-0.0529	10	0.66056	D	0.02	.	14.6848	0.69042	0.0:0.0:0.0:1.0	.	795;795	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	H	795	ENSP00000274181:Y795H	ENSP00000274181:Y795H	Y	+	1	0	ADAMTS16	5292898	1.000000	0.71417	0.910000	0.35882	0.429000	0.31625	7.310000	0.78947	2.113000	0.64589	0.533000	0.62120	TAC		0.512	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	
NIPBL	25836	broad.mit.edu;mdanderson.org;bcgsc.ca	37	5	37000622	37000622	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:37000622C>T	ENST00000282516.8	+	12	3951	c.3452C>T	c.(3451-3453)cCg>cTg	p.P1151L	NIPBL_ENST00000448238.2_Missense_Mutation_p.P1151L	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1151					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AACCGAAGTCCGTCAGATTCT	0.448																																						.											0													162.0	155.0	157.0					5																	37000622		2203	4300	6503	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3452C>T	5.37:g.37000622C>T	ENSP00000282516:p.Pro1151Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271463	0.80469	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93488	-3.23;-3.23	5.81	5.81	0.92471	.	0.093959	0.47852	D	0.000220	D	0.88306	0.6401	N	0.24115	0.695	0.58432	D	0.999997	P;P	0.43287	0.524;0.802	B;B	0.34180	0.043;0.177	D	0.89300	0.3625	10	0.59425	D	0.04	.	20.0749	0.97738	0.0:1.0:0.0:0.0	.	1151;1151	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	L	1151	ENSP00000282516:P1151L;ENSP00000406266:P1151L	ENSP00000282516:P1151L	P	+	2	0	NIPBL	37036379	0.999000	0.42202	0.992000	0.48379	0.957000	0.61999	4.629000	0.61290	2.759000	0.94783	0.591000	0.81541	CCG		0.448	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	
ACTBL2	345651	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	56777945	56777945	+	Missense_Mutation	SNP	C	C	T	rs149395843	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:56777945C>T	ENST00000423391.1	-	1	691	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	197						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GTTATAGCCTCGCTCTGTCAG	0.532													C|||	19	0.00379393	0.0144	0.0	5008	,	,		22585	0.0		0.0	False		,,,				2504	0.0					.											0								C	GLN/ARG	41,4365	45.3+/-79.5	1,39,2163	101.0	82.0	88.0		590	3.9	0.9	5	dbSNP_134	88	0,8600		0,0,4300	yes	missense	ACTBL2	NM_001017992.2	43	1,39,6463	TT,TC,CC		0.0,0.9305,0.3152	probably-damaging	197/377	56777945	41,12965	2203	4300	6503	SO:0001583	missense	345651				CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.590G>A	5.37:g.56777945C>T	ENSP00000416706:p.Arg197Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	CCDS34163.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	13.17	2.156197	0.38021	0.009305	0.0	ENSG00000169067	ENST00000423391	D	0.94576	-3.46	4.77	3.89	0.44902	.	0.094398	0.39083	N	0.001479	D	0.94142	0.8121	H	0.94771	3.58	0.39485	D	0.967951	B	0.27068	0.167	B	0.32211	0.142	D	0.93849	0.7143	10	0.87932	D	0	.	10.9769	0.47472	0.0:0.9077:0.0:0.0923	.	197	Q562R1	ACTBL_HUMAN	Q	197	ENSP00000416706:R197Q	ENSP00000416706:R197Q	R	-	2	0	ACTBL2	56813702	0.866000	0.29940	0.890000	0.34922	0.974000	0.67602	5.926000	0.70070	1.201000	0.43203	0.655000	0.94253	CGA		0.532	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992	
THBS4	7060	broad.mit.edu	37	5	79366537	79366537	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:79366537C>T	ENST00000350881.2	+	12	1714	c.1524C>T	c.(1522-1524)gaC>gaT	p.D508D	CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Silent_p.D417D	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	508					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ACGCTTGTGACGAGGATGCTG	0.532																																						.											0													138.0	121.0	127.0					5																	79366537		2203	4300	6503	SO:0001819	synonymous_variant	7060				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1524C>T	5.37:g.79366537C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2R909|Q86TG2	Silent	SNP	ENST00000350881.2	37	CCDS4049.1																																																																																				0.532	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1		
XRCC4	7518	broad.mit.edu;mdanderson.org;bcgsc.ca	37	5	82499423	82499423	+	Missense_Mutation	SNP	C	C	T	rs140143447		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:82499423C>T	ENST00000511817.1	+	5	615	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	XRCC4_ENST00000338635.6_Missense_Mutation_p.R179W|XRCC4_ENST00000396027.4_Missense_Mutation_p.R179W|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000282268.3_Missense_Mutation_p.R179W			Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	179					cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|immunoglobulin V(D)J recombination (GO:0033152)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ligase activity (GO:0051351)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytosol (GO:0005829)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)	p.R179W(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		TCTTTATAAGCGGTTTATTCT	0.318								Non-homologous end-joining																														.											1	Substitution - Missense(1)	kidney(1)						C	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	89.0	97.0	94.0		535,535,535	4.9	0.1	5	dbSNP_134	94	0,8600		0,0,4300	no	missense,missense,missense	XRCC4	NM_003401.3,NM_022406.2,NM_022550.2	101,101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	179/335,179/337,179/335	82499423	1,13005	2203	4300	6503	SO:0001583	missense	7518			AB017445	CCDS4058.1, CCDS4059.1	5q14.2	2008-02-05			ENSG00000152422	ENSG00000152422			12831	protein-coding gene	gene with protein product	"""X-ray repair, complementing defective, repair in Chinese hamster"", ""DNA repair protein XRCC4"""	194363				1697445, 7665175	Standard	NM_022406		Approved		uc003kib.3	Q13426	OTTHUMG00000131319	ENST00000511817.1:c.535C>T	5.37:g.82499423C>T	ENSP00000421491:p.Arg179Trp	Somatic		WXS	Illumina HiSeq	Phase_I	A8K3X4|Q9BS72|Q9UP94	Missense_Mutation	SNP	ENST00000511817.1	37	CCDS4059.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409449	0.62399	2.27E-4	0.0	ENSG00000152422	ENST00000282268;ENST00000338635;ENST00000396027;ENST00000511817	T;T;T;T	0.38240	1.15;1.15;1.15;1.15	5.88	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.60235	0.2253	M	0.76328	2.33	0.34914	D	0.7478	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.74077	-0.3781	10	0.87932	D	0	-12.6205	14.0478	0.64714	0.331:0.669:0.0:0.0	.	179;179;179	Q13426-2;Q13426;Q13426-3	.;XRCC4_HUMAN;.	W	179	ENSP00000282268:R179W;ENSP00000342011:R179W;ENSP00000379344:R179W;ENSP00000421491:R179W	ENSP00000282268:R179W	R	+	1	2	XRCC4	82535179	0.789000	0.28775	0.134000	0.22075	0.967000	0.64934	1.155000	0.31700	1.263000	0.44181	0.555000	0.69702	CGG		0.318	XRCC4-003	NOVEL	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369624.1	NM_022550	
ANKRD32	84250	broad.mit.edu	37	5	94005883	94005883	+	Silent	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:94005883T>C	ENST00000265140.5	+	13	1979	c.1560T>C	c.(1558-1560)tgT>tgC	p.C520C		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	520						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		AAAGCTTTTGTCATCAAATTT	0.323																																						.											0													83.0	70.0	74.0					5																	94005883		692	1589	2281	SO:0001819	synonymous_variant	84250			AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.1560T>C	5.37:g.94005883T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Silent	SNP	ENST00000265140.5	37	CCDS4071.2																																																																																				0.323	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290	
YTHDC2	64848	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	112902857	112902857	+	Missense_Mutation	SNP	G	G	A	rs149048625		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:112902857G>A	ENST00000161863.4	+	22	3124	c.2911G>A	c.(2911-2913)Gtt>Att	p.V971I		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	971					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TTGGGCTGTCGTTAAAGCTGC	0.443																																						.											0								G	ILE/VAL	0,4404		0,0,2202	153.0	134.0	141.0		2911	4.9	1.0	5	dbSNP_134	141	1,8599	1.2+/-3.3	0,1,4299	no	missense	YTHDC2	NM_022828.3	29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	971/1431	112902857	1,13003	2202	4300	6502	SO:0001583	missense	64848			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.2911G>A	5.37:g.112902857G>A	ENSP00000161863:p.Val971Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329351	0.81690	0.0	1.16E-4	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.02763	4.17	4.86	4.86	0.63082	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.04318	0.0119	L	0.33093	0.98	0.80722	D	1	P	0.36944	0.574	B	0.40782	0.34	T	0.60500	-0.7251	10	0.22706	T	0.39	.	18.1593	0.89703	0.0:0.0:1.0:0.0	.	971	Q9H6S0	YTDC2_HUMAN	I	971;881	ENSP00000161863:V971I	ENSP00000161863:V971I	V	+	1	0	YTHDC2	112930756	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.612000	0.67681	2.513000	0.84729	0.563000	0.77884	GTT		0.443	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828	
DMXL1	1657	broad.mit.edu;mdanderson.org;bcgsc.ca	37	5	118500256	118500256	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:118500256T>C	ENST00000311085.8	+	20	4837	c.4757T>C	c.(4756-4758)cTg>cCg	p.L1586P	DMXL1_ENST00000539542.1_Missense_Mutation_p.L1586P	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1586										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GAAGAAGAACTGCTGAACATG	0.433																																						.											0													109.0	105.0	106.0					5																	118500256		2202	4300	6502	SO:0001583	missense	1657			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.4757T>C	5.37:g.118500256T>C	ENSP00000309690:p.Leu1586Pro	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000311085.8	37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.576757	0.86645	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.70986	-0.53;-0.53	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.87771	0.6261	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.90772	0.4673	10	0.87932	D	0	-5.389	15.7828	0.78275	0.0:0.0:0.0:1.0	.	1586;1586	F5H269;Q9Y485	.;DMXL1_HUMAN	P	1586	ENSP00000309690:L1586P;ENSP00000439479:L1586P	ENSP00000309690:L1586P	L	+	2	0	DMXL1	118528155	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.977000	0.88081	2.125000	0.65367	0.482000	0.46254	CTG		0.433	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509	
NRG2	9542	broad.mit.edu;ucsc.edu;mdanderson.org	37	5	139251392	139251392	+	Silent	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:139251392G>T	ENST00000361474.1	-	4	1250	c.1026C>A	c.(1024-1026)gcC>gcA	p.A342A	NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000394770.1_Silent_p.A342A|NRG2_ENST00000358522.3_Silent_p.A342A|NRG2_ENST00000545385.1_Silent_p.A342A|NRG2_ENST00000541337.1_Intron|NRG2_ENST00000289422.7_Silent_p.A342A|NRG2_ENST00000289409.4_Silent_p.A342A|NRG2_ENST00000340391.3_Silent_p.A139A	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	342	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				embryo development (GO:0009790)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCACTTCCGGGCGTGCCCCG	0.562																																						.											0													164.0	123.0	137.0					5																	139251392		2203	4300	6503	SO:0001819	synonymous_variant	9542				CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.1026C>A	5.37:g.139251392G>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000361474.1	37	CCDS4217.1																																																																																				0.562	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982	
ANKHD1	54882	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	139815782	139815782	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:139815782G>A	ENST00000360839.2	+	2	554	c.400G>A	c.(400-402)Gac>Aac	p.D134N	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D134N|ANKHD1_ENST00000394722.3_Missense_Mutation_p.D134N|ANKHD1_ENST00000297183.6_Missense_Mutation_p.D134N|ANKHD1_ENST00000394723.3_Missense_Mutation_p.D134N	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	134						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAGGAGCAGACTTACGCAC	0.368																																						.											0													90.0	92.0	91.0					5																	139815782		2203	4300	6503	SO:0001583	missense	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.400G>A	5.37:g.139815782G>A	ENSP00000354085:p.Asp134Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529525	0.85706	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000394723;ENST00000511151;ENST00000394722;ENST00000532219	T;T;T;T;T;T;T	0.72835	-0.68;-0.69;-0.67;-0.32;-0.42;-0.2;-0.69	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.76147	0.3947	N	0.24115	0.695	0.80722	D	1	D;D;D;P;B	0.69078	0.968;0.997;0.997;0.936;0.314	P;D;D;P;B	0.77004	0.856;0.989;0.989;0.755;0.121	T	0.76141	-0.3068	10	0.39692	T	0.17	.	19.344	0.94356	0.0:0.0:1.0:0.0	.	134;134;134;134;134	Q8IWZ3-5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.;.;ANKH1_HUMAN;.;.	N	134;148;134;134;134;134;134;134;134	ENSP00000354085:D134N;ENSP00000297183:D134N;ENSP00000394489:D134N;ENSP00000378212:D134N;ENSP00000421069:D134N;ENSP00000378211:D134N;ENSP00000432016:D134N	ENSP00000432016:D134N	D	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139795966	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.809000	0.99208	2.534000	0.85438	0.655000	0.94253	GAC		0.368	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747	
PCDHA6	56142	broad.mit.edu	37	5	140209042	140209042	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140209042G>A	ENST00000529310.1	+	1	1480	c.1366G>A	c.(1366-1368)Gcg>Acg	p.A456T	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.A456T|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	456	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGCGTTCGCGCAGCCCGA	0.657																																						.											0													52.0	59.0	56.0					5																	140209042		2203	4300	6503	SO:0001583	missense	56142			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1366G>A	5.37:g.140209042G>A	ENSP00000433378:p.Ala456Thr	Somatic		WXS	Illumina HiSeq	Phase_I	O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	0.141	-1.101871	0.01828	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.01359	4.98;4.98	3.55	1.67	0.24075	Cadherin (3);Cadherin-like (1);	0.220936	0.22040	U	0.065461	T	0.01029	0.0034	N	0.12569	0.235	0.09310	N	1	B;B;B	0.24823	0.018;0.091;0.112	B;B;B	0.28011	0.085;0.025;0.043	T	0.48822	-0.9001	10	0.42905	T	0.14	.	6.2726	0.20963	0.0816:0.1306:0.6539:0.1338	.	456;456;456	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	T	456	ENSP00000433378:A456T;ENSP00000434113:A456T	ENSP00000434113:A456T	A	+	1	0	PCDHA6	140189226	0.000000	0.05858	0.609000	0.28983	0.003000	0.03518	-1.403000	0.02497	-0.001000	0.14495	-1.786000	0.00637	GCG		0.657	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909	
PCDHGB2	56103	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	140740942	140740942	+	Missense_Mutation	SNP	G	G	A	rs267600451		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140740942G>A	ENST00000522605.1	+	1	1240	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	414	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCGGGAGGAGATCCCAGA	0.502																																						.											0													73.0	82.0	79.0					5																	140740942		2010	4158	6168	SO:0001583	missense	56103			AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1240G>A	5.37:g.140740942G>A	ENSP00000429018:p.Glu414Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.043203	0.00398	.	.	ENSG00000253910	ENST00000522605	T	0.01725	4.67	5.3	-0.3	0.12804	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01523	0.0049	N	0.21324	0.655	0.09310	N	1	B;B	0.14012	0.002;0.009	B;B	0.11329	0.003;0.006	T	0.46952	-0.9154	9	0.13108	T	0.6	.	12.16	0.54099	0.1306:0.6011:0.2683:0.0	.	414;414	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	K	414	ENSP00000429018:E414K	ENSP00000429018:E414K	E	+	1	0	PCDHGB2	140721126	0.000000	0.05858	0.664000	0.29753	0.035000	0.12851	-0.204000	0.09425	0.016000	0.14998	-0.176000	0.13171	GAG		0.502	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923	
PCDHGB3	56102	broad.mit.edu	37	5	140750096	140750096	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140750096G>A	ENST00000576222.1	+	1	266	c.135G>A	c.(133-135)tcG>tcA	p.S45S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	45	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGGGGCTCGCTGGTAGGGA	0.552																																						.											0													73.0	82.0	79.0					5																	140750096		1865	4098	5963	SO:0001819	synonymous_variant	56102			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.135G>A	5.37:g.140750096G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.552	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
RELL2	285613	broad.mit.edu	37	5	141019122	141019122	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:141019122C>T	ENST00000297164.3	+	4	1609	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	RELL2_ENST00000518856.1_Missense_Mutation_p.R71C|RELL2_ENST00000444782.1_Missense_Mutation_p.R137C|RELL2_ENST00000521367.1_Missense_Mutation_p.R71C|RELL2_ENST00000518025.1_3'UTR|FCHSD1_ENST00000523856.1_5'UTR|HDAC3_ENST00000305264.3_5'Flank|FCHSD1_ENST00000435817.2_3'UTR	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	137					positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATTGCAGCCGCAGCAAGAG	0.647																																						.											0													42.0	44.0	43.0					5																	141019122		2202	4300	6502	SO:0001583	missense	285613			AK054889	CCDS4265.1	5q31.3	2011-10-11	2007-06-15	2007-06-15	ENSG00000164620	ENSG00000164620			26902	protein-coding gene	gene with protein product		611213	"""chromosome 5 open reading frame 16"""	C5orf16		12975309, 16389068	Standard	NM_173828		Approved	FLJ90583	uc003lli.3	Q8NC24	OTTHUMG00000129612	ENST00000297164.3:c.409C>T	5.37:g.141019122C>T	ENSP00000297164:p.Arg137Cys	Somatic		WXS	Illumina HiSeq	Phase_I	D3DQE2|Q6P4E7|Q6UXY2	Missense_Mutation	SNP	ENST00000297164.3	37	CCDS4265.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833101	0.71258	.	.	ENSG00000164620	ENST00000444782;ENST00000521367;ENST00000297164;ENST00000518856	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.7	5.7	0.88788	.	0.502118	0.19074	N	0.123434	T	0.49490	0.1560	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.63703	0.917;0.869	T	0.46247	-0.9205	10	0.87932	D	0	-12.8261	14.2977	0.66325	0.1858:0.8142:0.0:0.0	.	71;137	E5RHA7;Q8NC24	.;RELL2_HUMAN	C	137;71;137;71	ENSP00000409443:R137C;ENSP00000430948:R71C;ENSP00000297164:R137C;ENSP00000427992:R71C	ENSP00000297164:R137C	R	+	1	0	RELL2	140999306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.731000	0.55013	2.683000	0.91414	0.655000	0.94253	CGC		0.647	RELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251807.2	NM_173828	
PPARGC1B	133522	broad.mit.edu	37	5	149212386	149212386	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:149212386G>A	ENST00000309241.5	+	5	782	c.750G>A	c.(748-750)ccG>ccA	p.P250P	PPARGC1B_ENST00000403750.1_Silent_p.P186P|PPARGC1B_ENST00000360453.4_Silent_p.P211P|PPARGC1B_ENST00000394320.3_Silent_p.P250P	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	250					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ACAAGGAGCCGGGTGAGGACT	0.682																																						.											0													34.0	42.0	39.0					5																	149212386		2202	4299	6501	SO:0001819	synonymous_variant	133522			AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.750G>A	5.37:g.149212386G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Silent	SNP	ENST00000309241.5	37	CCDS4298.1																																																																																				0.682	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263	
GALNT10	55568	broad.mit.edu;mdanderson.org	37	5	153795447	153795447	+	Silent	SNP	C	C	T	rs368630751		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:153795447C>T	ENST00000297107.6	+	11	1745	c.1608C>T	c.(1606-1608)taC>taT	p.Y536Y	GALNT10_ENST00000377657.3_Silent_p.Y209Y|SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377661.2_Silent_p.Y474Y	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	536	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TCACGCTGTACGACTGCCACA	0.537																																						.											0								T		0,4406		0,0,2203	102.0	92.0	95.0		1608	-11.2	0.1	5		95	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous	GALNT10	NM_198321.3		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		536/604	153795447	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	55568			AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1608C>T	5.37:g.153795447C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Silent	SNP	ENST00000297107.6	37	CCDS4325.1																																																																																				0.537	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321	
SLIT3	6586	broad.mit.edu;ucsc.edu;mdanderson.org	37	5	168096804	168096804	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:168096804G>A	ENST00000519560.1	-	35	4739	c.4320C>T	c.(4318-4320)ggC>ggT	p.G1440G	CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000332966.8_Silent_p.G1447G|SLIT3_ENST00000404867.3_Silent_p.G1440G	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1440	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCAGTGCTCGCCGCTAAAGC	0.592																																					Ovarian(29;311 847 10864 17279 24903)	.											0													82.0	63.0	70.0					5																	168096804		2203	4300	6503	SO:0001819	synonymous_variant	6586			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.4320C>T	5.37:g.168096804G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	CCDS4369.1																																																																																				0.592	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062	
NEURL1B	54492	broad.mit.edu	37	5	172113866	172113866	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:172113866C>T	ENST00000369800.5	+	5	1747	c.1606C>T	c.(1606-1608)Cgg>Tgg	p.R536W	NEURL1B_ENST00000522853.1_Missense_Mutation_p.R354W|NEURL1B_ENST00000520919.1_Missense_Mutation_p.R296W	NM_001142651.1	NP_001136123.1	A8MQ27	NEU1B_HUMAN	neuralized E3 ubiquitin protein ligase 1B	536					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(2)	2						GCGACAGGCCCGGGCCTGCTG	0.647																																						.											0													19.0	21.0	21.0					5																	172113866		692	1590	2282	SO:0001583	missense	54492				CCDS47342.1	5q35.1	2013-10-24	2013-10-24		ENSG00000214357	ENSG00000214357			35422	protein-coding gene	gene with protein product		615893	"""neuralized homolog 1B (Drosophila)"""			17003037	Standard	NM_001142651		Approved	DKFZP761M1511, Neur2	uc003mbt.3	A8MQ27	OTTHUMG00000163281	ENST00000369800.5:c.1606C>T	5.37:g.172113866C>T	ENSP00000358815:p.Arg536Trp	Somatic		WXS	Illumina HiSeq	Phase_I	C9DQJ5|C9DQJ6|C9DQJ7	Missense_Mutation	SNP	ENST00000369800.5	37	CCDS47342.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388342	0.82902	.	.	ENSG00000214357	ENST00000520919;ENST00000522853;ENST00000369800	T;T;T	0.79845	-1.31;-1.31;-1.31	5.4	4.45	0.53987	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.499914	0.19420	U	0.114708	T	0.79215	0.4408	N	0.13098	0.295	0.28705	N	0.903852	D	0.76494	0.999	D	0.70016	0.967	T	0.72434	-0.4295	10	0.66056	D	0.02	-25.5671	10.0452	0.42182	0.3343:0.6657:0.0:0.0	.	536	A8MQ27	NEU1B_HUMAN	W	296;354;536	ENSP00000429797:R296W;ENSP00000430001:R354W;ENSP00000358815:R536W	ENSP00000358815:R536W	R	+	1	2	NEURL1B	172046471	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.341000	0.59335	2.528000	0.85240	0.462000	0.41574	CGG		0.647	NEURL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372453.2		
MAML1	9794	broad.mit.edu;mdanderson.org	37	5	179192794	179192794	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:179192794G>A	ENST00000292599.3	+	2	1046	c.783G>A	c.(781-783)tcG>tcA	p.S261S	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAACAGGTCGGTGCCCGATG	0.547																																						.											0													80.0	72.0	75.0					5																	179192794		2203	4300	6503	SO:0001819	synonymous_variant	9794			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.783G>A	5.37:g.179192794G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000292599.3	37	CCDS34315.1																																																																																				0.547	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757	
LINC00518	221718	broad.mit.edu	37	6	10430027	10430027	+	lincRNA	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:10430027G>A	ENST00000496285.1	-	0	1008					NR_027793.1		Q8N0U6	CF218_HUMAN	long intergenic non-protein coding RNA 518																		AATTGTTTTTGCCTAAACATT	0.388											OREG0017184	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0																																												221718			BC028118		6p24.3	2014-06-18	2011-11-25	2011-11-25	ENSG00000183674	ENSG00000183674		"""Long non-coding RNAs"""	28626	non-coding RNA	RNA, long non-coding			"""chromosome 6 open reading frame 218"""	C6orf218		12477932, 24906614	Standard	NR_027793		Approved	MGC40222	uc003myz.2	Q8N0U6	OTTHUMG00000159175		6.37:g.10430027G>A		Somatic	664	WXS	Illumina HiSeq	Phase_I		RNA	SNP	ENST00000496285.1	37																																																																																					0.388	LINC00518-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353699.1	NR_027793	
USP49	25862	broad.mit.edu;mdanderson.org;bcgsc.ca	37	6	41767668	41767668	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:41767668G>A	ENST00000394253.3	-	5	1899	c.1570C>T	c.(1570-1572)Cga>Tga	p.R524*	USP49_ENST00000373006.1_Nonsense_Mutation_p.R524*|USP49_ENST00000373009.3_Nonsense_Mutation_p.R524*|USP49_ENST00000297229.2_Nonsense_Mutation_p.R524*|USP49_ENST00000373010.1_Nonsense_Mutation_p.R524*			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	524	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTGGATTTTCGTCGTTTGCCT	0.433																																						.											0													196.0	182.0	187.0					6																	41767668		2203	4300	6503	SO:0001587	stop_gained	25862			AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.1570C>T	6.37:g.41767668G>A	ENSP00000377797:p.Arg524*	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T3D9|Q5T3E0|Q96CK4	Nonsense_Mutation	SNP	ENST00000394253.3	37		.	.	.	.	.	.	.	.	.	.	G	40	8.030610	0.98619	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	.	.	.	5.67	4.81	0.61882	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.1102	9.2025	0.37268	0.0736:0.0:0.7818:0.1446	.	.	.	.	X	524	.	ENSP00000297229:R524X	R	-	1	2	USP49	41875646	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.391000	0.66266	1.416000	0.47057	0.655000	0.94253	CGA		0.433	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561	
ANKRD66	100287718	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	46726491	46726491	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:46726491G>A	ENST00000565422.1	+	5	594	c.589G>A	c.(589-591)Gct>Act	p.A197T	RP11-268F1.3_ENST00000438738.1_lincRNA|ANKRD66_ENST00000536046.1_Missense_Mutation_p.A168T	NM_001162435.2	NP_001155907.2	B4E2M5	ANR66_HUMAN	ankyrin repeat domain 66	197																	CCACCGTTGCGCTGCCCAGCA	0.557																																						.											0													37.0	36.0	36.0					6																	46726491		692	1591	2283	SO:0001583	missense	100287718			AK304342	CCDS59024.1	6p12.3	2013-01-11			ENSG00000230062	ENSG00000230062		"""Ankyrin repeat domain containing"""	44669	protein-coding gene	gene with protein product							Standard	NM_001162435		Approved		uc011dwf.2	B4E2M5	OTTHUMG00000014791	ENST00000565422.1:c.589G>A	6.37:g.46726491G>A	ENSP00000454770:p.Ala197Thr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000565422.1	37	CCDS59024.1																																																																																				0.557	ANKRD66-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432045.1	NM_001162435	
TINAG	27283	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	54214609	54214609	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:54214609G>A	ENST00000259782.4	+	7	1091	c.995G>A	c.(994-996)cGg>cAg	p.R332Q		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	332					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CGAGGAAAACGGCATGCCACG	0.463																																						.											0													154.0	141.0	145.0					6																	54214609		2203	4300	6503	SO:0001583	missense	27283			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.995G>A	6.37:g.54214609G>A	ENSP00000259782:p.Arg332Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	G	33	5.241226	0.95272	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	D	0.83992	-1.79	5.87	5.87	0.94306	Peptidase C1A, papain C-terminal (2);	0.166795	0.41712	D	0.000836	D	0.85626	0.5740	L	0.55103	1.725	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.80986	-0.1137	10	0.18710	T	0.47	.	17.7085	0.88315	0.0:0.0:1.0:0.0	.	332	Q9UJW2	TINAG_HUMAN	Q	191;332;11	ENSP00000259782:R332Q	ENSP00000259782:R332Q	R	+	2	0	TINAG	54322568	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.653000	0.61462	2.785000	0.95823	0.591000	0.81541	CGG		0.463	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464	
COL21A1	81578	broad.mit.edu	37	6	56044473	56044473	+	Silent	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:56044473A>G	ENST00000244728.5	-	3	940	c.543T>C	c.(541-543)gcT>gcC	p.A181A	COL21A1_ENST00000370819.1_Silent_p.A181A|COL21A1_ENST00000535941.1_Silent_p.A181A	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	181	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGTTGGCAATAGCTCTAAGTT	0.383																																						.											0													88.0	82.0	84.0					6																	56044473		1907	4133	6040	SO:0001819	synonymous_variant	81578			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.543T>C	6.37:g.56044473A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Silent	SNP	ENST00000244728.5	37	CCDS55025.1																																																																																				0.383	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2		
DST	667	broad.mit.edu	37	6	56335939	56335939	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:56335939G>A	ENST00000361203.3	-	90	21333	c.21326C>T	c.(21325-21327)aCg>aTg	p.T7109M	DST_ENST00000370769.4_Missense_Mutation_p.T7220M|DST_ENST00000370754.5_Missense_Mutation_p.T7398M|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.T5023M|DST_ENST00000421834.2_Missense_Mutation_p.T5105M|DST_ENST00000244364.6_Missense_Mutation_p.T4806M|DST_ENST00000446842.2_Missense_Mutation_p.T6894M			Q03001	DYST_HUMAN	dystonin	7218					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCCTGCCGCGTTATTTTCCC	0.363																																						.											0													64.0	62.0	63.0					6																	56335939		1859	4129	5988	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.21326C>T	6.37:g.56335939G>A	ENSP00000354508:p.Thr7109Met	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	G	21.7	4.191243	0.78902	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81	6.02	6.02	0.97574	EF-hand-like domain (1);	0.000000	0.56097	D	0.000029	D	0.90431	0.7004	H	0.95294	3.65	0.32881	D	0.510558	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;0.998	D	0.91704	0.5376	9	0.66056	D	0.02	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	5105;7220;7398;7218;4806	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	M	4806;7398;7220;5105;6894;5023;7109	ENSP00000244364:T4806M;ENSP00000359790:T7398M;ENSP00000359805:T7220M;ENSP00000400883:T5105M;ENSP00000393645:T6894M;ENSP00000359824:T5023M;ENSP00000354508:T7109M	ENSP00000244364:T4806M	T	-	2	0	DST	56443898	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	9.869000	0.99810	2.865000	0.98341	0.655000	0.94253	ACG		0.363	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
CNR1	1268	broad.mit.edu	37	6	88853689	88853689	+	Silent	SNP	G	G	A	rs75641625	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:88853689G>A	ENST00000537554.1	-	2	4867	c.1305C>T	c.(1303-1305)caC>caT	p.H435H	CNR1_ENST00000369499.2_Silent_p.H435H|CNR1_ENST00000428600.2_Silent_p.H435H|CNR1_ENST00000549890.1_Silent_p.H435H|CNR1_ENST00000549716.1_Silent_p.H374H|CNR1_ENST00000369501.2_Silent_p.H435H|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000535130.1_Silent_p.H435H|CNR1_ENST00000468898.1_Silent_p.H402H	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	435					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CATTGTTTGCGTGTTTGTGCA	0.557																																						.											0								G	,,,,	1,4405	2.1+/-5.4	0,1,2202	200.0	180.0	187.0		1305,1305,1305,1305,1206	-8.8	0.1	6	dbSNP_131	187	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CNR1	NM_001160226.1,NM_001160258.1,NM_001160259.1,NM_016083.4,NM_033181.3	,,,,	0,7,6496	AA,AG,GG		0.0698,0.0227,0.0538	,,,,	435/473,435/473,435/473,435/473,402/440	88853689	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	1268			AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.1305C>T	6.37:g.88853689G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Silent	SNP	ENST00000537554.1	37	CCDS5015.1																																																																																				0.557	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2		
PRDM1	639	broad.mit.edu;mdanderson.org	37	6	106553250	106553250	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:106553250G>A	ENST00000369096.4	+	5	1449	c.1215G>A	c.(1213-1215)tcG>tcA	p.S405S	PRDM1_ENST00000369089.3_Silent_p.S271S|PRDM1_ENST00000369091.2_Silent_p.S369S	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	405					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TCATCCCCTCGTACAACGCTC	0.582			"""D, N, Mis, F, S"""		DLBCL																																	.		Rec	yes		6	6q21	639	"""PR domain containing 1, with ZNF domain"""		L	0													85.0	63.0	71.0					6																	106553250		2203	4300	6503	SO:0001819	synonymous_variant	639				CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1215G>A	6.37:g.106553250G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2REA6|E1P5E0|Q86WM7	Silent	SNP	ENST00000369096.4	37	CCDS5054.2																																																																																				0.582	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3		
TIAM2	26230	broad.mit.edu;ucsc.edu;mdanderson.org	37	6	155450720	155450720	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:155450720C>T	ENST00000461783.3	+	6	1636	c.363C>T	c.(361-363)caC>caT	p.H121H	TIAM2_ENST00000318981.5_Silent_p.H121H|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Silent_p.H121H|TIAM2_ENST00000456144.1_Silent_p.H121H|TIAM2_ENST00000360366.4_Silent_p.H121H			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	121					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTGTTGGCCACGAGCTGGCAG	0.562																																						.											0													75.0	63.0	67.0					6																	155450720		2203	4300	6503	SO:0001819	synonymous_variant	26230				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.363C>T	6.37:g.155450720C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	CCDS34558.1																																																																																				0.562	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454	
PARK2	5071	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	162206903	162206903	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:162206903C>T	ENST00000366898.1	-	7	874	c.772G>A	c.(772-774)Gtg>Atg	p.V258M	PARK2_ENST00000366896.1_Missense_Mutation_p.V109M|PARK2_ENST00000366894.1_Missense_Mutation_p.V67M|PARK2_ENST00000366892.1_Missense_Mutation_p.V258M|PARK2_ENST00000366897.1_Missense_Mutation_p.V230M|PARK2_ENST00000338468.3_Missense_Mutation_p.V67M	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	258	SYT11 binding 2.				adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		AAGCAAATCACGTGGCGGGAG	0.512																																						.											0			GRCh37	CM056034	PARK2	M							88.0	76.0	80.0					6																	162206903		2203	4300	6503	SO:0001583	missense	5071				CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.772G>A	6.37:g.162206903C>T	ENSP00000355865:p.Val258Met	Somatic		WXS	Illumina HiSeq	Phase_I	A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.767302	0.90020	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892;ENST00000366895	D;D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62;-2.62	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	D	0.95252	0.8460	M	0.83953	2.67	0.49051	D	0.999746	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.994;0.988;0.988;0.971	D	0.95119	0.8245	10	0.62326	D	0.03	.	17.7106	0.88321	0.0:1.0:0.0:0.0	.	258;109;230;258;67	O60260-5;Q5VVX3;Q5VVX4;O60260;Q8NI42	.;.;.;PRKN2_HUMAN;.	M	258;230;109;67;67;67;258;179	ENSP00000355865:V258M;ENSP00000355863:V230M;ENSP00000355862:V109M;ENSP00000355860:V67M;ENSP00000343589:V67M;ENSP00000355858:V258M	ENSP00000343589:V67M	V	-	1	0	PARK2	162126893	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	6.554000	0.73923	2.717000	0.92951	0.650000	0.86243	GTG		0.512	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1		
AP5Z1	9907	broad.mit.edu	37	7	4830934	4830934	+	Missense_Mutation	SNP	G	G	A	rs375090264		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:4830934G>A	ENST00000348624.4	+	17	2436	c.2342G>A	c.(2341-2343)cGc>cAc	p.R781H	AP5Z1_ENST00000490487.1_3'UTR|MIR4656_ENST00000579503.1_RNA	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	781					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											CGCTATCACCGCGATGCCAAC	0.687																																						.											0													23.0	29.0	27.0					7																	4830934		2136	4206	6342	SO:0001583	missense	9907			AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.2342G>A	7.37:g.4830934G>A	ENSP00000297562:p.Arg781His	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858165	0.51376	.	.	ENSG00000242802	ENST00000348624	T	0.51817	0.69	5.13	1.97	0.26223	.	.	.	.	.	T	0.57577	0.2063	M	0.72894	2.215	0.38297	D	0.942867	D;D	0.76494	0.999;0.999	P;P	0.60068	0.818;0.868	T	0.60900	-0.7171	9	0.49607	T	0.09	.	6.9415	0.24496	0.2252:0.0:0.6337:0.1411	.	1492;781	A4D1Z4;O43299	.;K0415_HUMAN	H	781	ENSP00000297562:R781H	ENSP00000297562:R781H	R	+	2	0	KIAA0415	4797460	1.000000	0.71417	0.676000	0.29932	0.005000	0.04900	3.440000	0.52886	1.104000	0.41587	0.655000	0.94253	CGC		0.687	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1		
CYTH3	9265	broad.mit.edu;mdanderson.org	37	7	6217521	6217521	+	Missense_Mutation	SNP	C	C	T	rs555480535		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:6217521C>T	ENST00000350796.3	-	5	437	c.301G>A	c.(301-303)Gtc>Atc	p.V101I	Y_RNA_ENST00000458975.1_RNA	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	101	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						AACTGGGCGACGTCTTCTGGG	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		19725	0.0		0.0	False		,,,				2504	0.001					.											0													127.0	120.0	122.0					7																	6217521		2203	4300	6503	SO:0001583	missense	9265			AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	9504	protein-coding gene	gene with protein product		605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.301G>A	7.37:g.6217521C>T	ENSP00000297044:p.Val101Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A4D2N8	Missense_Mutation	SNP	ENST00000350796.3	37	CCDS5346.1	.	.	.	.	.	.	.	.	.	.	C	5.917	0.353326	0.11182	.	.	ENSG00000008256	ENST00000350796	T	0.56611	0.45	5.16	4.03	0.46877	.	0.098253	0.64402	N	0.000003	T	0.22044	0.0531	N	0.05351	-0.065	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.30534	-0.9975	10	0.02654	T	1	.	3.7502	0.08563	0.0:0.651:0.0:0.349	.	101	O43739-2	.	I	101	ENSP00000297044:V101I	ENSP00000297044:V101I	V	-	1	0	CYTH3	6184046	1.000000	0.71417	0.145000	0.22337	0.748000	0.42578	4.901000	0.63259	2.559000	0.86315	0.655000	0.94253	GTC		0.458	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2	NM_004227	
DGKB	1607	broad.mit.edu	37	7	14620499	14620499	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:14620499G>A	ENST00000403951.2	-	19	2019	c.1600C>T	c.(1600-1602)Cga>Tga	p.R534*	DGKB_ENST00000402815.1_Nonsense_Mutation_p.R533*|DGKB_ENST00000399322.3_Nonsense_Mutation_p.R534*|DGKB_ENST00000406247.3_Nonsense_Mutation_p.R534*|DGKB_ENST00000407950.1_Nonsense_Mutation_p.R526*|DGKB_ENST00000258767.5_Nonsense_Mutation_p.R534*|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Nonsense_Mutation_p.R515*			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	534	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						CCTCCCCATCGCAGGCATCTT	0.428																																						.											0													81.0	76.0	78.0					7																	14620499		1957	4172	6129	SO:0001587	stop_gained	1607			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1600C>T	7.37:g.14620499G>A	ENSP00000385780:p.Arg534*	Somatic		WXS	Illumina HiSeq	Phase_I	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Nonsense_Mutation	SNP	ENST00000403951.2	37	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	G	38	7.162631	0.98107	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	.	.	.	5.77	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4202	0.49976	0.0:0.0:0.6084:0.3916	.	.	.	.	X	534;534;534;533;526;515;534	.	ENSP00000258767:R534X	R	-	1	2	DGKB	14587024	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.030000	0.70903	2.718000	0.92993	0.591000	0.81541	CGA		0.428	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080	
HDAC9	9734	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	18975462	18975462	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:18975462C>T	ENST00000432645.2	+	22	2825	c.2825C>T	c.(2824-2826)aCa>aTa	p.T942I	HDAC9_ENST00000401921.1_Missense_Mutation_p.T901I|HDAC9_ENST00000406451.4_Missense_Mutation_p.T942I|HDAC9_ENST00000441542.2_Missense_Mutation_p.T945I	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	942	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CAATTGATGACATTGGCTGAT	0.398																																						.											0													219.0	216.0	217.0					7																	18975462		1964	4149	6113	SO:0001583	missense	9734			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2825C>T	7.37:g.18975462C>T	ENSP00000410337:p.Thr942Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315918	0.40996	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	5.81	4.85	0.62838	Histone deacetylase domain (2);	0.304559	0.27951	N	0.017190	T	0.68293	0.2985	L	0.48642	1.525	0.45015	D	0.998035	B;B;B;B;B	0.31625	0.332;0.006;0.006;0.007;0.006	B;B;B;B;B	0.43889	0.435;0.003;0.003;0.005;0.003	T	0.68047	-0.5512	10	0.49607	T	0.09	-40.5538	6.7135	0.23290	0.2865:0.6219:0.0:0.0916	.	190;901;945;942;942	Q8N926;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5	.;.;.;HDAC9_HUMAN;.	I	942;901;942;945;854	ENSP00000384657:T942I;ENSP00000383912:T901I;ENSP00000410337:T942I;ENSP00000408617:T945I	ENSP00000339165:T854I	T	+	2	0	HDAC9	18941987	0.996000	0.38824	0.981000	0.43875	0.984000	0.73092	3.150000	0.50662	2.739000	0.93911	0.563000	0.77884	ACA		0.398	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1		
GARS	2617	broad.mit.edu;ucsc.edu;mdanderson.org	37	7	30662010	30662010	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:30662010G>A	ENST00000389266.3	+	12	1786	c.1545G>A	c.(1543-1545)gtG>gtA	p.V515V		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	515					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CAAAACTGGTGATGGAGTATC	0.403																																						.											0													213.0	199.0	204.0					7																	30662010		1943	4157	6100	SO:0001819	synonymous_variant	2617			AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.1545G>A	7.37:g.30662010G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B3KQA2|B4DIA0|Q969Y1	Silent	SNP	ENST00000389266.3	37	CCDS43564.1																																																																																				0.403	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047	
BMPER	168667	broad.mit.edu;bcgsc.ca	37	7	34006162	34006162	+	Missense_Mutation	SNP	C	C	T	rs374945016		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:34006162C>T	ENST00000297161.2	+	5	765	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	BMPER_ENST00000426693.1_Missense_Mutation_p.R131C	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	131	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TTGTGTTCTACGCCAGTGCCA	0.448																																						.											0								C	CYS/ARG	0,4406		0,0,2203	71.0	72.0	72.0		391	5.9	1.0	7		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	BMPER	NM_133468.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	131/686	34006162	1,13005	2203	4300	6503	SO:0001583	missense	168667				CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.391C>T	7.37:g.34006162C>T	ENSP00000297161:p.Arg131Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584504	0.46110	0.0	1.16E-4	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.32272	1.46;1.46	5.87	5.87	0.94306	von Willebrand factor, type C (1);	0.696787	0.15764	N	0.245769	T	0.10723	0.0262	N	0.00560	-1.38	0.38776	D	0.954666	B	0.24882	0.113	B	0.12156	0.007	T	0.29941	-0.9995	10	0.37606	T	0.19	.	13.8324	0.63389	0.0:0.9214:0.0:0.0786	.	131	Q8N8U9	BMPER_HUMAN	C	131	ENSP00000297161:R131C;ENSP00000393950:R131C	ENSP00000297161:R131C	R	+	1	0	BMPER	33972687	0.235000	0.23794	0.957000	0.39632	0.979000	0.70002	2.342000	0.43992	2.780000	0.95670	0.655000	0.94253	CGC		0.448	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468	
UPP1	7378	broad.mit.edu	37	7	48134391	48134391	+	Missense_Mutation	SNP	C	C	T	rs11971829	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:48134391C>T	ENST00000331803.4	+	4	634	c.11C>T	c.(10-12)aCg>aTg	p.T4M	UPP1_ENST00000395564.4_Missense_Mutation_p.T4M|UPP1_ENST00000429491.2_5'UTR|UPP1_ENST00000341253.4_Missense_Mutation_p.T4M|UPP1_ENST00000482015.1_3'UTR			Q16831	UPP1_HUMAN	uridine phosphorylase 1	4					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	ATGGCGGCCACGGGAGCCAAT	0.498													C|||	6	0.00119808	0.0038	0.0014	5008	,	,		16453	0.0		0.0	False		,,,				2504	0.0					.											0								C	MET/THR,MET/THR	20,4386	26.2+/-53.5	0,20,2183	107.0	93.0	97.0		11,11	1.4	0.0	7	dbSNP_120	97	0,8600		0,0,4300	yes	missense,missense	UPP1	NM_003364.2,NM_181597.1	81,81	0,20,6483	TT,TC,CC		0.0,0.4539,0.1538	possibly-damaging,possibly-damaging	4/311,4/311	48134391	20,12986	2203	4300	6503	SO:0001583	missense	7378			AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"""uridine phosphorylase"""	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.11C>T	7.37:g.48134391C>T	ENSP00000330032:p.Thr4Met	Somatic		WXS	Illumina HiSeq	Phase_I	D3DVM4|Q15362	Missense_Mutation	SNP	ENST00000331803.4	37	CCDS5507.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	3.804	-0.041115	0.07452	0.004539	0.0	ENSG00000183696	ENST00000416681;ENST00000331803;ENST00000432131;ENST00000341253;ENST00000395564;ENST00000436673	T;T;T;T;T	0.46451	0.87;0.89;0.89;0.89;0.87	3.23	1.37	0.22104	.	2.685510	0.01278	N	0.009653	T	0.15696	0.0378	N	0.04508	-0.205	0.23023	N	0.998416	B;B	0.26081	0.141;0.081	B;B	0.10450	0.005;0.003	T	0.15694	-1.0428	10	0.48119	T	0.1	0.0042	3.8331	0.08882	0.2382:0.6327:0.0:0.1291	rs11971829;rs11971829	4;4	B4DND0;Q16831	.;UPP1_HUMAN	M	4	ENSP00000405209:T4M;ENSP00000330032:T4M;ENSP00000342878:T4M;ENSP00000378931:T4M;ENSP00000390118:T4M	ENSP00000330032:T4M	T	+	2	0	UPP1	48100916	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.120000	0.10660	0.374000	0.24650	-0.181000	0.13052	ACG		0.498	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364	
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657436	72657436	+	RNA	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:72657436G>A	ENST00000425256.1	-	0	2475									GTF2I repeat domain containing 2 pseudogene 1																		gaatctttgcgcaatggtgct	0.453																																						.											0																																												401375			AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72657436G>A		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP	ENST00000425256.1	37																																																																																					0.453	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164	
SSC4D	136853	broad.mit.edu;mdanderson.org	37	7	76024631	76024631	+	Silent	SNP	C	C	T	rs139627347		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:76024631C>T	ENST00000275560.3	-	7	1232	c.885G>A	c.(883-885)acG>acA	p.T295T	SRCRB4D_ENST00000492979.2_5'Flank|ZP3_ENST00000336517.4_5'Flank	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GTGCTGTGAGCGTTGGGGGAC	0.622																																						.											0								C		0,4406		0,0,2203	56.0	53.0	54.0		885	1.6	0.2	7	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SRCRB4D	NM_080744.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		295/576	76024631	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	136853																														ENST00000275560.3:c.885G>A	7.37:g.76024631C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000275560.3	37	CCDS5585.1																																																																																				0.622	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3		
SSC4D	136853	broad.mit.edu;bcgsc.ca	37	7	76030355	76030355	+	Missense_Mutation	SNP	C	C	T	rs77067369	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:76030355C>T	ENST00000275560.3	-	3	486	c.139G>A	c.(139-141)Gcc>Acc	p.A47T	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GGCTGTAGGGCGCTGGCTGAA	0.627													C|||	50	0.00998403	0.0	0.0	5008	,	,		16587	0.0496		0.0	False		,,,				2504	0.0					.											0								C	,THR/ALA	1,3991		0,1,1995	120.0	92.0	101.0		,139	1.3	0.5	7	dbSNP_131	101	0,7736		0,0,3868	yes	intron,missense	ZP3,SRCRB4D	NM_007155.5,NM_080744.1	,58	0,1,5863	TT,TC,CC		0.0,0.0251,0.0085	,benign	,47/576	76030355	1,11727	1996	3868	5864	SO:0001583	missense	136853																														ENST00000275560.3:c.139G>A	7.37:g.76030355C>T	ENSP00000275560:p.Ala47Thr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000275560.3	37	CCDS5585.1	36	0.016483516483516484	0	0.0	0	0.0	36	0.06293706293706294	0	0.0	C	11.06	1.528752	0.27387	2.51E-4	0.0	ENSG00000146700	ENST00000275560	T	0.01209	5.17	4.78	1.3	0.21679	.	0.529873	0.15674	N	0.250223	T	0.00144	0.0004	L	0.36672	1.1	0.46028	D	0.998824	B	0.33739	0.422	B	0.25405	0.06	T	0.67699	-0.5603	10	0.22706	T	0.39	.	3.4369	0.07449	0.0:0.5166:0.2105:0.2729	.	47	Q8WTU2	SRB4D_HUMAN	T	47	ENSP00000275560:A47T	ENSP00000275560:A47T	A	-	1	0	SRCRB4D	75868291	0.062000	0.20869	0.473000	0.27253	0.876000	0.50452	0.135000	0.15952	0.519000	0.28406	-0.350000	0.07774	GCC		0.627	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3		
CACNA2D1	781	broad.mit.edu;bcgsc.ca	37	7	81620513	81620513	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:81620513C>T	ENST00000356253.5	-	22	2096	c.1841G>A	c.(1840-1842)gGc>gAc	p.G614D	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.G595D			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	614					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GTAATCTGTGCCATTGACAGG	0.303																																						.											0													147.0	126.0	133.0					7																	81620513		2202	4295	6497	SO:0001583	missense	781			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1841G>A	7.37:g.81620513C>T	ENSP00000348589:p.Gly614Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.41|13.41	2.227764|2.227764	0.39399|0.39399	.|.	.|.	ENSG00000153956|ENSG00000153956	ENST00000443883|ENST00000356860;ENST00000284088;ENST00000356253	.|T;T	.|0.75260	.|-0.92;-0.92	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.046899	.|0.85682	.|D	.|0.000000	T|T	0.69242|0.69242	0.3089|0.3089	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|B	.|0.23735	.|0.09	.|B	.|0.29176	.|0.099	T|T	0.62039|0.62039	-0.6938|-0.6938	5|10	.|0.18710	.|T	.|0.47	-10.5042|-10.5042	20.3465|20.3465	0.98790|0.98790	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|595	.|P54289-2	.|.	T|D	113|595;614;614	.|ENSP00000349320:G595D;ENSP00000348589:G614D	.|ENSP00000284088:G614D	A|G	-|-	1|2	0|0	CACNA2D1|CACNA2D1	81458449|81458449	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	4.548000|4.548000	0.60718|0.60718	2.798000|2.798000	0.96311|0.96311	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.303	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			
STEAP2	261729	broad.mit.edu;ucsc.edu;mdanderson.org	37	7	89854552	89854552	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:89854552C>T	ENST00000287908.3	+	2	549	c.156C>T	c.(154-156)tgC>tgT	p.C52C	STEAP2_ENST00000394621.2_Silent_p.C52C|STEAP2_ENST00000394622.2_Silent_p.C52C|STEAP2_ENST00000402625.2_Silent_p.C52C|STEAP2_ENST00000394632.1_Silent_p.C52C|STEAP2_ENST00000394629.2_Silent_p.C52C|STEAP2_ENST00000394626.1_Silent_p.C52C	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	52					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TTATTAGATGCGGCTATCATG	0.393																																						.											0													207.0	180.0	189.0					7																	89854552		2203	4300	6503	SO:0001819	synonymous_variant	261729			AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.156C>T	7.37:g.89854552C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Silent	SNP	ENST00000287908.3	37	CCDS5615.1																																																																																				0.393	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999	
AKAP9	10142	broad.mit.edu;mdanderson.org;bcgsc.ca	37	7	91631833	91631833	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:91631833T>C	ENST00000359028.2	+	9	2863	c.2638T>C	c.(2638-2640)Tat>Cat	p.Y880H	AKAP9_ENST00000356239.3_Missense_Mutation_p.Y868H|AKAP9_ENST00000358100.2_Missense_Mutation_p.Y880H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	880	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)			ACAAGAGGAGTATGCTTGCCT	0.299			T	BRAF	papillary thyroid																																	.		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													51.0	56.0	55.0					7																	91631833		2200	4296	6496	SO:0001583	missense	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.2638T>C	7.37:g.91631833T>C	ENSP00000351922:p.Tyr880His	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	T	11.98	1.801164	0.31869	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.05025	3.51;3.51;3.51	5.25	5.25	0.73442	.	0.000000	0.37809	N	0.001932	T	0.24470	0.0593	M	0.69823	2.125	0.41469	D	0.988096	D;D;D;D	0.89917	0.998;0.999;1.0;1.0	D;D;D;D	0.78314	0.975;0.989;0.983;0.991	T	0.00536	-1.1683	10	0.72032	D	0.01	.	15.6084	0.76692	0.0:0.0:0.0:1.0	.	880;868;868;880	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	H	868;880;880;880;880	ENSP00000348573:Y868H;ENSP00000351922:Y880H;ENSP00000350813:Y880H	ENSP00000348573:Y868H	Y	+	1	0	AKAP9	91469769	1.000000	0.71417	0.950000	0.38849	0.938000	0.57974	4.127000	0.57944	2.326000	0.78906	0.533000	0.62120	TAT		0.299	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	
CDK6	1021	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	92252390	92252390	+	Missense_Mutation	SNP	G	G	A	rs373488172		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:92252390G>A	ENST00000265734.4	-	6	1069	c.658C>T	c.(658-660)Cgt>Tgt	p.R220C	CDK6_ENST00000424848.2_Missense_Mutation_p.R220C	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	220	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				astrocyte development (GO:0014002)|cell cycle arrest (GO:0007050)|cell dedifferentiation (GO:0043697)|cell division (GO:0051301)|dentate gyrus development (GO:0021542)|G1/S transition of mitotic cell cycle (GO:0000082)|generation of neurons (GO:0048699)|gliogenesis (GO:0042063)|hematopoietic stem cell differentiation (GO:0060218)|lateral ventricle development (GO:0021670)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular senescence (GO:2000773)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of osteoblast differentiation (GO:0045668)|Notch signaling pathway (GO:0007219)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of erythrocyte differentiation (GO:0045646)|regulation of gene expression (GO:0010468)|response to virus (GO:0009615)|T cell differentiation in thymus (GO:0033077)|type B pancreatic cell development (GO:0003323)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GAACTTCCACGAAAAAGAGGC	0.294			T	MLLT10	ALL																																	.		Dom	yes		7	7q21-q22	1021	cyclin-dependent kinase 6		L	0								G	CYS/ARG,CYS/ARG	0,4398		0,0,2199	43.0	44.0	43.0		658,658	5.2	1.0	7		43	1,8591		0,1,4295	no	missense,missense	CDK6	NM_001259.6,NM_001145306.1	180,180	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	220/327,220/327	92252390	1,12989	2199	4296	6495	SO:0001583	missense	1021				CCDS5628.1	7q21-q22	2011-11-08			ENSG00000105810	ENSG00000105810		"""Cyclin-dependent kinases"""	1777	protein-coding gene	gene with protein product		603368				1639063	Standard	NM_001259		Approved	PLSTIRE	uc010lez.3	Q00534	OTTHUMG00000131697	ENST00000265734.4:c.658C>T	7.37:g.92252390G>A	ENSP00000265734:p.Arg220Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1G0	Missense_Mutation	SNP	ENST00000265734.4	37	CCDS5628.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693066	0.48202	0.0	1.16E-4	ENSG00000105810	ENST00000265734;ENST00000424848	T;T	0.66638	-0.22;-0.22	5.19	5.19	0.71726	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.61426	0.2346	L	0.43923	1.385	0.80722	D	1	B	0.24132	0.098	B	0.15870	0.014	T	0.58434	-0.7637	10	0.45353	T	0.12	-10.0515	19.094	0.93242	0.0:0.0:1.0:0.0	.	220	Q00534	CDK6_HUMAN	C	220	ENSP00000265734:R220C;ENSP00000397087:R220C	ENSP00000265734:R220C	R	-	1	0	CDK6	92090326	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.245000	0.72398	2.595000	0.87683	0.650000	0.86243	CGT		0.294	CDK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254605.2		
COPS6	10980	broad.mit.edu	37	7	99688529	99688529	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:99688529C>A	ENST00000303904.3	+	6	528	c.491C>A	c.(490-492)cCt>cAt	p.P164H	MIR25_ENST00000384816.1_RNA|MIR93_ENST00000385024.1_RNA|COPS6_ENST00000418625.1_Missense_Mutation_p.P163H	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	164					cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TCACAGCTTCCTGTCAGCGTT	0.443																																						.											0													157.0	155.0	155.0					7																	99688529		2203	4300	6503	SO:0001583	missense	10980			BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"""COP9 subunit 6 (MOV34 homolog, 34 kD)"""	614729	"""COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"""			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.491C>A	7.37:g.99688529C>A	ENSP00000304102:p.Pro164His	Somatic		WXS	Illumina HiSeq	Phase_I	A4D2A3|O15387	Missense_Mutation	SNP	ENST00000303904.3	37	CCDS5682.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571796	0.65765	.	.	ENSG00000168090	ENST00000303904;ENST00000418625	T;T	0.58210	0.35;0.35	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.77922	0.4203	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83408	0.0026	10	0.87932	D	0	-20.2736	15.3999	0.74830	0.0:1.0:0.0:0.0	.	164	Q7L5N1	CSN6_HUMAN	H	164;163	ENSP00000304102:P164H;ENSP00000400617:P163H	ENSP00000304102:P164H	P	+	2	0	COPS6	99526465	1.000000	0.71417	0.982000	0.44146	0.713000	0.41058	6.368000	0.73104	2.484000	0.83849	0.655000	0.94253	CCT		0.443	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336412.3	NM_006833	
NYAP1	222950	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	100085892	100085892	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:100085892G>A	ENST00000300179.2	+	4	707	c.548G>A	c.(547-549)gGc>gAc	p.G183D	NYAP1_ENST00000454988.1_Missense_Mutation_p.G126D|NYAP1_ENST00000423930.1_Missense_Mutation_p.G183D	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	183	Involved in CYFIP1- and NCKAP1-binding. {ECO:0000250}.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TGCCCCCCAGGCCCCTCTCCT	0.657																																						.											0													60.0	69.0	66.0					7																	100085892		2203	4300	6503	SO:0001583	missense	222950			AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.548G>A	7.37:g.100085892G>A	ENSP00000300179:p.Gly183Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	G	6.463	0.453518	0.12283	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.40756	1.02;1.02;1.02	5.14	3.28	0.37604	.	0.127824	0.35646	N	0.003064	T	0.20292	0.0488	N	0.03608	-0.345	0.25451	N	0.988001	B	0.16603	0.018	B	0.17433	0.018	T	0.14924	-1.0455	10	0.20046	T	0.44	-10.2403	13.2611	0.60106	0.0:0.6886:0.3114:0.0	.	183	Q6ZVC0	CG051_HUMAN	D	183;183;126	ENSP00000300179:G183D;ENSP00000411861:G183D;ENSP00000394424:G126D	ENSP00000300179:G183D	G	+	2	0	C7orf51	99923828	0.992000	0.36948	0.956000	0.39512	0.961000	0.63080	2.022000	0.41030	0.516000	0.28340	-0.693000	0.03709	GGC		0.657	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564	
ZAN	7455	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	100334486	100334486	+	RNA	SNP	G	G	A	rs374155932		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:100334486G>A	ENST00000348028.3	+	0	473				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGAGTGGCCCGCCTGCTCAGC	0.647																																						.											0													7.0	10.0	9.0					7																	100334486		1878	3846	5724			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100334486G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	G	17.02	3.282921	0.59867	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.02421	4.3;4.3;4.3	4.55	3.65	0.41850	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.35677	N	0.003050	T	0.12774	0.0310	M	0.82923	2.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.973;0.984	T	0.00035	-1.2263	10	0.62326	D	0.03	.	7.5698	0.27900	0.1123:0.0:0.8877:0.0	.	103;103	F5H0T8;Q9Y493	.;ZAN_HUMAN	H	103	ENSP00000445943:R103H;ENSP00000445091:R103H;ENSP00000444427:R103H	ENSP00000423579:R103H	R	+	2	0	ZAN	100172422	0.706000	0.27856	1.000000	0.80357	0.508000	0.34012	1.727000	0.38095	2.473000	0.83533	0.561000	0.74099	CGC		0.647	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
SLC12A9	56996	broad.mit.edu;bcgsc.ca	37	7	100453339	100453339	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:100453339C>T	ENST00000354161.3	+	4	453	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	SLC12A9_ENST00000428758.1_Missense_Mutation_p.R110C|SLC12A9_ENST00000415287.1_Intron|SLC12A9_ENST00000540482.1_Missense_Mutation_p.R110C|SLC12A9_ENST00000275729.3_Intron	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	110					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CATGATCAGCCGCACACTGGG	0.572																																						.											0													137.0	136.0	136.0					7																	100453339		2203	4300	6503	SO:0001583	missense	56996			AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.328C>T	7.37:g.100453339C>T	ENSP00000275730:p.Arg110Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226635	0.58668	.	.	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000354161;ENST00000434158	D;D;D;D	0.99176	-5.52;-5.52;-5.52;-5.52	4.08	1.94	0.25998	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99414	0.9793	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98725	1.0710	10	0.87932	D	0	.	8.0469	0.30555	0.4741:0.5259:0.0:0.0	.	110	Q9BXP2	S12A9_HUMAN	C	110	ENSP00000443702:R110C;ENSP00000408301:R110C;ENSP00000275730:R110C;ENSP00000408571:R110C	ENSP00000275730:R110C	R	+	1	0	SLC12A9	100291275	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	1.846000	0.39289	0.857000	0.35407	0.462000	0.41574	CGC		0.572	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246	
FBXL13	222235	broad.mit.edu;ucsc.edu;mdanderson.org	37	7	102566787	102566787	+	Missense_Mutation	SNP	G	G	A	rs150674888		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:102566787G>A	ENST00000313221.4	-	10	1238	c.812C>T	c.(811-813)cCg>cTg	p.P271L	FBXL13_ENST00000455112.2_Missense_Mutation_p.P271L|FBXL13_ENST00000393772.2_Missense_Mutation_p.P271L|FBXL13_ENST00000379308.3_Missense_Mutation_p.P271L|FBXL13_ENST00000456695.1_Missense_Mutation_p.P271L|FBXL13_ENST00000379306.3_Missense_Mutation_p.P271L|FBXL13_ENST00000436908.1_Missense_Mutation_p.P271L|FBXL13_ENST00000379305.3_Missense_Mutation_p.P271L|LRRC17_ENST00000339431.4_Intron|LRRC17_ENST00000249377.4_Intron	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	271										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CAGGACCCCCGGGCAGCCCTC	0.438													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18726	0.0		0.0	False		,,,				2504	0.0					.											0								G	,LEU/PRO,,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	63.0	60.0	61.0		,812,,812	3.5	0.1	7	dbSNP_134	61	0,8600		0,0,4300	no	intron,missense,intron,missense	LRRC17,FBXL13	NM_001031692.2,NM_001111038.1,NM_005824.2,NM_145032.3	,98,,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,benign,,benign	,271/691,,271/736	102566787	1,13005	2203	4300	6503	SO:0001583	missense	222235			BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.812C>T	7.37:g.102566787G>A	ENSP00000321927:p.Pro271Leu	Somatic		WXS	Illumina HiSeq	Phase_I	C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.849680	0.32699	2.27E-4	0.0	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112	T;T;T;T;T;T;T;T	0.19669	2.28;2.28;2.13;2.28;2.28;2.28;2.13;2.28	5.42	3.47	0.39725	.	0.486738	0.18321	N	0.144803	T	0.19525	0.0469	L	0.58510	1.815	0.19300	N	0.999975	B;B;B;B	0.31040	0.002;0.305;0.049;0.003	B;B;B;B	0.26517	0.011;0.07;0.03;0.004	T	0.11299	-1.0593	10	0.39692	T	0.17	.	9.4317	0.38615	0.0:0.1368:0.5818:0.2814	.	271;271;271;271	Q8NEE6-3;Q8NEE6-4;Q8NEE6-2;Q8NEE6	.;.;.;FXL13_HUMAN	L	271	ENSP00000377367:P271L;ENSP00000368610:P271L;ENSP00000368608:P271L;ENSP00000368607:P271L;ENSP00000388608:P271L;ENSP00000321927:P271L;ENSP00000409716:P271L;ENSP00000391550:P271L	ENSP00000321927:P271L	P	-	2	0	FBXL13	102354023	0.866000	0.29940	0.128000	0.21923	0.583000	0.36354	1.657000	0.37366	1.404000	0.46819	0.655000	0.94253	CCG		0.438	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032	
GRM8	2918	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	126173105	126173105	+	Missense_Mutation	SNP	G	G	T	rs569979812		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:126173105G>T	ENST00000339582.2	-	9	3139	c.2331C>A	c.(2329-2331)ttC>ttA	p.F777L	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.F777L|GRM8_ENST00000358373.3_Missense_Mutation_p.F777L			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	777					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|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)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TGGCTTCATTGAAAGTCTCTG	0.413										HNSCC(24;0.065)																												.											0													140.0	122.0	128.0					7																	126173105		2203	4300	6503	SO:0001583	missense	2918				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2331C>A	7.37:g.126173105G>T	ENSP00000344173:p.Phe777Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161074	0.78226	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.93019	-3.15;-3.15;-3.15	5.72	5.72	0.89469	GPCR, family 3, conserved site (1);GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.97757	0.9264	H	0.94886	3.595	0.80722	D	1	D;D	0.76494	0.99;0.999	D;D	0.72982	0.979;0.967	D	0.98483	1.0606	10	0.87932	D	0	.	18.8846	0.92370	0.0:0.0:1.0:0.0	.	777;777	O00222-2;O00222	.;GRM8_HUMAN	L	777	ENSP00000344173:F777L;ENSP00000409790:F777L;ENSP00000351142:F777L	ENSP00000344173:F777L	F	-	3	2	GRM8	125960341	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.879000	0.63100	2.717000	0.92951	0.655000	0.94253	TTC		0.413	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4		
ASIC3	9311	broad.mit.edu;mdanderson.org	37	7	150747623	150747623	+	Silent	SNP	G	G	A	rs149333074		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:150747623G>A	ENST00000349064.5	+	3	939	c.741G>A	c.(739-741)ccG>ccA	p.P247P	ASIC3_ENST00000357922.4_Silent_p.P247P|ASIC3_ENST00000297512.8_Silent_p.P247P	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	247					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										AGGAGGAGCCGCCCATCATCG	0.627																																						.											0								G	,,	1,4405	2.1+/-5.4	0,1,2202	70.0	74.0	73.0		741,741,741	-8.7	0.0	7	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ACCN3	NM_004769.2,NM_020321.2,NM_020322.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	247/532,247/550,247/544	150747623	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9311			AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.741G>A	7.37:g.150747623G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Silent	SNP	ENST00000349064.5	37	CCDS5916.1																																																																																				0.627	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769	
MYOM2	9172	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	2033488	2033488	+	Missense_Mutation	SNP	G	G	A	rs544544159	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:2033488G>A	ENST00000262113.4	+	14	1751	c.1610G>A	c.(1609-1611)cGt>cAt	p.R537H	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	537	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCCACTCCCCGTGGCAAGGAC	0.597													G|||	2	0.000399361	0.0	0.0	5008	,	,		17975	0.002		0.0	False		,,,				2504	0.0					.											0													64.0	57.0	59.0					8																	2033488		2203	4300	6503	SO:0001583	missense	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1610G>A	8.37:g.2033488G>A	ENSP00000262113:p.Arg537His	Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637676	0.67130	.	.	ENSG00000036448	ENST00000262113	T	0.57595	0.39	5.75	5.75	0.90469	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.130725	0.52532	D	0.000068	T	0.62270	0.2414	L	0.46157	1.445	0.80722	D	1	D	0.56746	0.977	P	0.53593	0.73	T	0.63743	-0.6568	10	0.72032	D	0.01	.	19.961	0.97250	0.0:0.0:1.0:0.0	.	537	P54296	MYOM2_HUMAN	H	537	ENSP00000262113:R537H	ENSP00000262113:R537H	R	+	2	0	MYOM2	2020895	1.000000	0.71417	0.962000	0.40283	0.009000	0.06853	7.686000	0.84128	2.709000	0.92574	0.651000	0.88453	CGT		0.597	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970	
ATP6V1B2	526	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	20070346	20070346	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:20070346C>T	ENST00000276390.2	+	9	897	c.857C>T	c.(856-858)gCg>gTg	p.A286V		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	286					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	GAATTTCTGGCGTACCAATGT	0.413																																					Pancreas(119;1230 1726 3901 4036 31644)	.											0													193.0	171.0	179.0					8																	20070346		2203	4300	6503	SO:0001583	missense	526			L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"""ATPases / V-type"""	854	protein-coding gene	gene with protein product		606939	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2"", ""ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"""	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.857C>T	8.37:g.20070346C>T	ENSP00000276390:p.Ala286Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	Missense_Mutation	SNP	ENST00000276390.2	37	CCDS6014.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454562	0.84209	.	.	ENSG00000147416	ENST00000276390;ENST00000542368	T	0.79554	-1.28	4.9	4.9	0.64082	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.047194	0.85682	D	0.000000	D	0.86615	0.5975	M	0.91561	3.22	0.80722	D	1	D	0.63046	0.992	P	0.45753	0.492	D	0.90445	0.4434	10	0.87932	D	0	-20.994	17.1689	0.86824	0.0:1.0:0.0:0.0	.	286	P21281	VATB2_HUMAN	V	286;160	ENSP00000276390:A286V	ENSP00000276390:A286V	A	+	2	0	ATP6V1B2	20114626	1.000000	0.71417	0.977000	0.42913	0.482000	0.33219	7.651000	0.83577	2.699000	0.92147	0.655000	0.94253	GCG		0.413	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253732.1	NM_001693	
NEFL	4747	broad.mit.edu	37	8	24813771	24813771	+	RNA	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:24813771G>A	ENST00000221169.5	-	0	853				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TCCTGCGTGCGGATGGACTTG	0.622																																						.											0													32.0	35.0	34.0					8																	24813771		2170	4271	6441			4747				CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"""Intermediate filaments type IV"""	7739	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 110"""	162280	"""neurofilament, light polypeptide 68kDa"""			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24813771G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B9ZVN2|Q16154|Q8IU72	Missense_Mutation	SNP	ENST00000221169.5	37																																																																																					0.622	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158	
KCTD9	54793	broad.mit.edu	37	8	25296836	25296836	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:25296836C>T	ENST00000221200.4	-	6	678	c.458G>A	c.(457-459)cGt>cAt	p.R153H	KCTD9_ENST00000518067.1_5'Flank	NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	153	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)					breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		CTGTCCATGACGCAAGTAGTT	0.353																																						.											0													42.0	40.0	41.0					8																	25296836		2203	4300	6503	SO:0001583	missense	54793			BC021216	CCDS6048.1	8p21.1	2013-06-20	2013-06-20		ENSG00000104756	ENSG00000104756		"""BTB/POZ domain containing"""	22401	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 9"""			11483580	Standard	NM_017634		Approved	FLJ20038, BTBD27	uc003xeo.3	Q7L273	OTTHUMG00000099428	ENST00000221200.4:c.458G>A	8.37:g.25296836C>T	ENSP00000221200:p.Arg153His	Somatic		WXS	Illumina HiSeq	Phase_I	Q6NUM8|Q9NXV4	Missense_Mutation	SNP	ENST00000221200.4	37	CCDS6048.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163457	0.78226	.	.	ENSG00000104756	ENST00000221200	T	0.55760	0.5	5.61	5.61	0.85477	BTB/POZ-like (2);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	U	0.000001	D	0.85788	0.5778	H	0.99425	4.56	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.91610	0.5302	10	0.87932	D	0	.	20.0086	0.97443	0.0:1.0:0.0:0.0	.	153	Q7L273	KCTD9_HUMAN	H	153	ENSP00000221200:R153H	ENSP00000221200:R153H	R	-	2	0	KCTD9	25352753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.808000	0.96608	0.655000	0.94253	CGT		0.353	KCTD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216890.1	NM_017634	
PBK	55872	broad.mit.edu;mdanderson.org;bcgsc.ca	37	8	27679912	27679912	+	Missense_Mutation	SNP	C	C	T	rs371557868		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:27679912C>T	ENST00000301905.4	-	5	852	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	PBK_ENST00000522944.1_Missense_Mutation_p.R130Q	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	130	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		GGCTTTATATCGTTCTTCTAT	0.353																																						.											0													81.0	77.0	78.0					8																	27679912		2202	4300	6502	SO:0001583	missense	55872			AB027249	CCDS6063.1, CCDS64858.1	8p21.2	2009-08-06			ENSG00000168078	ENSG00000168078			18282	protein-coding gene	gene with protein product	"""T-LAK cell-originated protein kinase"", ""cancer/testis antigen 84"""	611210				10781613, 10779557	Standard	NM_018492		Approved	TOPK, FLJ14385, Nori-3, SPK, CT84	uc003xgi.3	Q96KB5	OTTHUMG00000102113	ENST00000301905.4:c.389G>A	8.37:g.27679912C>T	ENSP00000301905:p.Arg130Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B4DX68|D3DST2|Q9NPD9|Q9NYL7|Q9NZK6	Missense_Mutation	SNP	ENST00000301905.4	37	CCDS6063.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989672	0.74589	.	.	ENSG00000168078	ENST00000301905;ENST00000522944	T;T	0.35236	1.32;1.32	5.22	5.22	0.72569	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.51176	0.1659	L	0.58669	1.825	0.80722	D	1	D;D	0.64830	0.994;0.985	P;P	0.58520	0.84;0.604	T	0.39272	-0.9622	10	0.30854	T	0.27	-3.5252	16.643	0.85134	0.0:1.0:0.0:0.0	.	130;130	B4DX68;Q96KB5	.;TOPK_HUMAN	Q	130	ENSP00000301905:R130Q;ENSP00000428489:R130Q	ENSP00000301905:R130Q	R	-	2	0	PBK	27735831	1.000000	0.71417	0.664000	0.29753	0.070000	0.16714	5.532000	0.67154	2.567000	0.86603	0.655000	0.94253	CGA		0.353	PBK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219952.2	NM_018492	
WRN	7486	broad.mit.edu	37	8	30924630	30924630	+	Missense_Mutation	SNP	C	C	T	rs375762379		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:30924630C>T	ENST00000298139.5	+	6	835	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	196	3'-5' exonuclease.|Interaction with WRNIP1. {ECO:0000250}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CAAGTCTATCCGCTGTAGCAA	0.413			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	.	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"""L, E, M, O"""	0								C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	93.0	81.0	85.0		586	5.8	1.0	8		85	0,8600		0,0,4300	no	missense	WRN	NM_000553.4	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	196/1433	30924630	1,13005	2203	4300	6503	SO:0001583	missense	7486	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.586C>T	8.37:g.30924630C>T	ENSP00000298139:p.Arg196Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886939	0.91814	2.27E-4	0.0	ENSG00000165392	ENST00000298139	T	0.63913	-0.07	5.82	5.82	0.92795	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.056461	0.64402	N	0.000001	D	0.85444	0.5698	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88398	0.3013	10	0.87932	D	0	-10.7416	19.6956	0.96023	0.0:1.0:0.0:0.0	.	196	Q14191	WRN_HUMAN	C	196	ENSP00000298139:R196C	ENSP00000298139:R196C	R	+	1	0	WRN	31044172	1.000000	0.71417	0.992000	0.48379	0.966000	0.64601	6.162000	0.71874	2.757000	0.94681	0.561000	0.74099	CGC		0.413	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1		
RNF5P1	286140	broad.mit.edu	37	8	38458285	38458285	+	IGR	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:38458285C>T								RP11-675F6.4 (41747 upstream) : RP11-495O10.1 (99858 downstream)																							ACCTGTACCCCGGCGGAAAGG	0.532																																						.											0																																										SO:0001628	intergenic_variant	286140																															8.37:g.38458285C>T		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP		37																																																																																				0	0.532								
C8orf34	116328	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	69380981	69380981	+	Missense_Mutation	SNP	G	G	A	rs142064557		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:69380981G>A	ENST00000539993.1	+	4	953	c.404G>A	c.(403-405)cGt>cAt	p.R135H	C8orf34_ENST00000337103.4_Missense_Mutation_p.R110H|C8orf34_ENST00000348340.2_Missense_Mutation_p.R135H|C8orf34_ENST00000349492.3_Intron|C8orf34_ENST00000518698.1_Missense_Mutation_p.R221H			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	135										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CCACAAAGCCGTGATTTTGAT	0.378													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18960	0.0		0.0	False		,,,				2504	0.0					.											0								G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	107.0	97.0	101.0		662,662	3.5	1.0	8	dbSNP_134	101	12,8586	9.1+/-34.3	0,12,4287	yes	missense,missense	C8orf34	NM_001195639.1,NM_052958.2	29,29	0,13,6489	AA,AG,GG		0.1396,0.0227,0.1	benign,benign	221/374,221/539	69380981	13,12991	2203	4299	6502	SO:0001583	missense	116328			AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.404G>A	8.37:g.69380981G>A	ENSP00000438159:p.Arg135His	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37		.	.	.	.	.	.	.	.	.	.	G	17.45	3.393332	0.62066	2.27E-4	0.001396	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000348340;ENST00000337103	T;T;T	0.48836	0.8;0.84;0.83	5.51	3.45	0.39498	.	0.173617	0.52532	N	0.000061	T	0.26738	0.0654	N	0.16066	0.365	0.38916	D	0.957645	B;B	0.15473	0.013;0.001	B;B	0.13407	0.009;0.001	T	0.08743	-1.0707	9	.	.	.	-7.1312	9.0069	0.36117	0.2677:0.0:0.7323:0.0	.	135;135	Q49A92;Q49A92-3	CH034_HUMAN;.	H	221;135;135;110	ENSP00000427820:R221H;ENSP00000438159:R135H;ENSP00000337174:R110H	.	R	+	2	0	C8orf34	69543535	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.461000	0.45040	1.315000	0.45114	0.591000	0.81541	CGT		0.378	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958	
EYA1	2138	broad.mit.edu;ucsc.edu;mdanderson.org	37	8	72129051	72129051	+	Silent	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:72129051T>C	ENST00000340726.3	-	14	1875	c.1236A>G	c.(1234-1236)gcA>gcG	p.A412A	EYA1_ENST00000388742.4_Silent_p.A412A|EYA1_ENST00000303824.7_Silent_p.A406A|EYA1_ENST00000388741.2_Silent_p.A378A|EYA1_ENST00000388743.2_Silent_p.A411A|EYA1_ENST00000388740.3_Silent_p.A379A|EYA1_ENST00000419131.1_Silent_p.A377A	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	412					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CACTGGTTGCTGCAGCAGGAA	0.443																																						.											0													129.0	118.0	122.0					8																	72129051		2203	4300	6503	SO:0001819	synonymous_variant	2138			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1236A>G	8.37:g.72129051T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A6NHQ0|G5E9R4|Q0P516|Q8WX80	Silent	SNP	ENST00000340726.3	37	CCDS34906.1																																																																																				0.443	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060	
ZFHX4	79776	broad.mit.edu	37	8	77763332	77763332	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:77763332G>A	ENST00000521891.2	+	10	4623	c.4175G>A	c.(4174-4176)cGt>cAt	p.R1392H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.R1366H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R1347H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R1347H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.R1392H(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTTTCTGACCGTCATGTCTAC	0.418										HNSCC(33;0.089)																												.											1	Substitution - Missense(1)	endometrium(1)											98.0	92.0	94.0					8																	77763332		1890	4115	6005	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4175G>A	8.37:g.77763332G>A	ENSP00000430497:p.Arg1392His	Somatic		WXS	Illumina HiSeq	Phase_I	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316211	0.60524	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.55588	0.51;0.58;0.55;0.53	4.65	4.65	0.58169	.	0.000000	0.45361	U	0.000366	T	0.72407	0.3456	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.997	T	0.75844	-0.3174	10	0.72032	D	0.01	.	18.1305	0.89599	0.0:0.0:1.0:0.0	.	1347;1347;1392	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	H	1392;1392;1347;1347;1366	ENSP00000430497:R1392H;ENSP00000399605:R1347H;ENSP00000050961:R1347H;ENSP00000430848:R1366H	ENSP00000050961:R1347H	R	+	2	0	ZFHX4	77925887	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.601000	0.98297	2.593000	0.87608	0.555000	0.69702	CGT		0.418	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
AZIN1	51582	broad.mit.edu;mdanderson.org	37	8	103848546	103848546	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:103848546C>T	ENST00000337198.5	-	6	1685	c.522G>A	c.(520-522)ctG>ctA	p.L174L	AZIN1_ENST00000347770.4_Silent_p.L174L|AZIN1_ENST00000522311.1_5'UTR	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	174					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of protein catabolic process (GO:0042177)|polyamine biosynthetic process (GO:0006596)|positive regulation of polyamine transmembrane transport (GO:1902269)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|enzyme inhibitor activity (GO:0004857)|ornithine decarboxylase activator activity (GO:0042978)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			TACAGTTCTTCAGGGTAGTGC	0.393																																						.											0													212.0	195.0	201.0					8																	103848546		2203	4300	6503	SO:0001819	synonymous_variant	51582			AAC25391	CCDS6295.1	8p22-q21.3	2005-03-21	2005-03-21	2005-03-21		ENSG00000155096			16432	protein-coding gene	gene with protein product	"""ornithine decarboxylase 1-like"""	607909	"""ornithine decarboxylase antizyme inhibitor"""	OAZIN		9349715, 9110174	Standard	XM_005250969		Approved	OAZI, ODC1L	uc003yky.3	O14977		ENST00000337198.5:c.522G>A	8.37:g.103848546C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NCD5|Q6IBQ7|Q96D20	Silent	SNP	ENST00000337198.5	37	CCDS6295.1																																																																																				0.393	AZIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380133.1		
SYBU	55638	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	110587782	110587782	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:110587782T>C	ENST00000422135.1	-	8	1860	c.1345A>G	c.(1345-1347)Acc>Gcc	p.T449A	SYBU_ENST00000408889.3_Missense_Mutation_p.T330A|SYBU_ENST00000433638.1_Missense_Mutation_p.T449A|SYBU_ENST00000276646.9_Missense_Mutation_p.T449A|SYBU_ENST00000424158.2_Missense_Mutation_p.T454A|SYBU_ENST00000408908.2_Missense_Mutation_p.T449A|SYBU_ENST00000529690.1_Missense_Mutation_p.T319A|SYBU_ENST00000529175.1_Missense_Mutation_p.T243A|SYBU_ENST00000533895.1_Missense_Mutation_p.T448A|SYBU_ENST00000533171.1_Missense_Mutation_p.T449A|SYBU_ENST00000533065.1_Missense_Mutation_p.T330A|SYBU_ENST00000528331.1_Missense_Mutation_p.T330A|SYBU_ENST00000528647.1_Missense_Mutation_p.T448A|SYBU_ENST00000532779.1_Missense_Mutation_p.T381A|SYBU_ENST00000399066.3_Missense_Mutation_p.T446A|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000446070.2_Missense_Mutation_p.T448A|SYBU_ENST00000419099.1_Missense_Mutation_p.T448A|SYBU_ENST00000440310.1_Missense_Mutation_p.T449A	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	449					regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TCTGTGGTGGTGGCTGTCACT	0.567																																						.											0													141.0	145.0	144.0					8																	110587782		2092	4222	6314	SO:0001583	missense	55638			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1345A>G	8.37:g.110587782T>C	ENSP00000407118:p.Thr449Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	T	1.806	-0.475920	0.04414	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.74	-5.88	0.02290	.	0.372415	0.32593	N	0.005895	T	0.19127	0.0459	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B	0.16166	0.016;0.009;0.004;0.009;0.005	B;B;B;B;B	0.17722	0.007;0.007;0.019;0.016;0.016	T	0.07809	-1.0753	9	0.33141	T	0.24	-0.0912	11.2815	0.49197	0.0:0.5089:0.1016:0.3895	.	319;381;448;449;446	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	A	448;454;381;446;448;330;243;449;448;449;448;449;449;449;330;330;319;449	.	ENSP00000276646:T449A	T	-	1	0	SYBU	110656958	0.683000	0.27633	0.000000	0.03702	0.009000	0.06853	0.142000	0.16096	-1.122000	0.02945	-0.326000	0.08463	ACC		0.567	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786	
ZHX2	22882	broad.mit.edu;ucsc.edu;mdanderson.org	37	8	123964437	123964437	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:123964437C>T	ENST00000314393.4	+	3	1522	c.687C>T	c.(685-687)ctC>ctT	p.L229L		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	229	Required for homodimerization.				mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			TCTCGAGACTCGGCGGGGTGG	0.587																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	.											0													109.0	118.0	115.0					8																	123964437		2203	4300	6503	SO:0001819	synonymous_variant	22882			AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.687C>T	8.37:g.123964437C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000314393.4	37	CCDS6336.1																																																																																				0.587	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943	
MROH5	389690	broad.mit.edu;ucsc.edu;mdanderson.org	37	8	142477562	142477562	+	RNA	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:142477562G>A	ENST00000430863.1	-	0	2339					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		CTGCCTGCACGCGGAAGGGGC	0.667																																						.											0													35.0	41.0	39.0					8																	142477562		2054	4193	6247			389690					8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142477562G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000430863.1	37																																																																																					0.667	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414	
BAI1	575	broad.mit.edu	37	8	143566068	143566068	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:143566068G>A	ENST00000517894.1	+	13	3145	c.2251G>A	c.(2251-2253)Gtc>Atc	p.V751I	BAI1_ENST00000323289.5_Missense_Mutation_p.V751I			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	751					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTTTGTGGACGTCATCGGCTT	0.657																																						.											0													36.0	47.0	44.0					8																	143566068		2073	4196	6269	SO:0001583	missense	575			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.2251G>A	8.37:g.143566068G>A	ENSP00000430945:p.Val751Ile	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000517894.1	37		.	.	.	.	.	.	.	.	.	.	G	14.84	2.655014	0.47467	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.10573	2.86;2.86	4.8	4.8	0.61643	.	0.093782	0.42964	U	0.000624	T	0.14141	0.0342	L	0.32530	0.975	0.46396	D	0.999021	D	0.60160	0.987	P	0.52758	0.708	T	0.08432	-1.0722	10	0.08837	T	0.75	.	16.4232	0.83773	0.0:0.0:1.0:0.0	.	751	E9PBK0	.	I	751	ENSP00000430945:V751I;ENSP00000313046:V751I	ENSP00000313046:V751I	V	+	1	0	BAI1	143563070	1.000000	0.71417	0.998000	0.56505	0.861000	0.49209	5.244000	0.65400	2.211000	0.71520	0.313000	0.20887	GTC		0.657	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702	
LRRC14	9684	broad.mit.edu;mdanderson.org;bcgsc.ca	37	8	145746758	145746758	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:145746758G>A	ENST00000292524.1	+	4	1524	c.1378G>A	c.(1378-1380)Gta>Ata	p.V460I	LRRC14_ENST00000529022.1_Missense_Mutation_p.V460I	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	460										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GTTTGCCCGCGTAGAAGCTGA	0.627																																						.											0													41.0	41.0	41.0					8																	145746758		2203	4299	6502	SO:0001583	missense	9684			BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.1378G>A	8.37:g.145746758G>A	ENSP00000292524:p.Val460Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	CCDS6432.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.523003	0.27211	.	.	ENSG00000160959	ENST00000529022;ENST00000292524	T;T	0.01538	4.79;4.79	4.65	3.77	0.43336	.	0.223478	0.37906	N	0.001893	T	0.02494	0.0076	L	0.42632	1.34	0.09310	N	1	D	0.55605	0.972	P	0.46718	0.525	T	0.41910	-0.9482	10	0.09084	T	0.74	.	12.4806	0.55839	0.0:0.17:0.8299:0.0	.	460	Q15048	LRC14_HUMAN	I	460	ENSP00000434768:V460I;ENSP00000292524:V460I	ENSP00000292524:V460I	V	+	1	0	LRRC14	145717566	0.981000	0.34729	0.065000	0.19835	0.000000	0.00434	4.925000	0.63425	1.170000	0.42753	-0.175000	0.13238	GTA		0.627	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665	
SMARCA2	6595	broad.mit.edu;mdanderson.org	37	9	2191375	2191375	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:2191375C>T	ENST00000382203.1	+	33	4913	c.4704C>T	c.(4702-4704)agC>agT	p.S1568S	SMARCA2_ENST00000357248.2_Silent_p.S1550S|SMARCA2_ENST00000382186.1_Silent_p.S232S|SMARCA2_ENST00000382194.1_Silent_p.S1550S|SMARCA2_ENST00000324954.5_Silent_p.S214S|SMARCA2_ENST00000349721.2_Silent_p.S1568S|SMARCA2_ENST00000302401.3_Silent_p.S256S|SMARCA2_ENST00000382185.1_Silent_p.S214S			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1568					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CTGTAGTGAGCGATTTTGACA	0.493																																						.											0													176.0	140.0	152.0					9																	2191375		2203	4300	6503	SO:0001819	synonymous_variant	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.4704C>T	9.37:g.2191375C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	CCDS34977.1																																																																																				0.493	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070	
PTPRD	5789	broad.mit.edu	37	9	8507359	8507359	+	Missense_Mutation	SNP	C	C	T	rs371642520		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:8507359C>T	ENST00000381196.4	-	19	2162	c.1619G>A	c.(1618-1620)cGt>cAt	p.R540H	PTPRD_ENST00000537002.1_Missense_Mutation_p.R537H|PTPRD_ENST00000360074.4_Missense_Mutation_p.R527H|PTPRD_ENST00000397617.3_Missense_Mutation_p.R530H|PTPRD_ENST00000356435.5_Missense_Mutation_p.R540H|PTPRD_ENST00000397611.3_Missense_Mutation_p.R537H|PTPRD_ENST00000397606.3_Missense_Mutation_p.R530H|PTPRD_ENST00000540109.1_Missense_Mutation_p.R540H|PTPRD_ENST00000486161.1_Missense_Mutation_p.R540H|PTPRD_ENST00000358503.5_Missense_Mutation_p.R527H|PTPRD_ENST00000355233.5_Missense_Mutation_p.R540H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	540	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGTATCTGAACGTGGAGGTGT	0.448										TSP Lung(15;0.13)																												.											0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	227.0	201.0	209.0		1610,1589,1619,1619,1619,1601	6.1	1.0	9		209	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense,missense	PTPRD	NM_001040712.2,NM_001171025.1,NM_002839.3,NM_130391.3,NM_130392.3,NM_130393.3	29,29,29,29,29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	537/1503,530/1506,540/1913,540/1506,540/1507,534/1497	8507359	2,13004	2203	4300	6503	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1619G>A	9.37:g.8507359C>T	ENSP00000370593:p.Arg540His	Somatic		WXS	Illumina HiSeq	Phase_I	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574809	0.86542	0.0	2.33E-4	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36	6.06	6.06	0.98353	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.053957	0.85682	D	0.000000	T	0.68641	0.3023	L	0.52266	1.64	0.50813	D	0.999898	D;D;D;P;D;D;B;D;D	0.76494	0.985;0.97;0.985;0.938;0.999;0.963;0.44;0.984;0.995	P;P;P;P;D;P;B;P;D	0.68353	0.666;0.666;0.666;0.666;0.955;0.536;0.069;0.767;0.957	T	0.62732	-0.6792	9	.	.	.	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	530;534;540;540;537;537;527;540;540	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	H	540;540;527;527;540;530;537;537;540;540;540;530	ENSP00000370593:R540H;ENSP00000348812:R540H;ENSP00000353187:R527H;ENSP00000351293:R527H;ENSP00000347373:R540H;ENSP00000380741:R530H;ENSP00000380735:R537H;ENSP00000440515:R537H;ENSP00000438164:R540H;ENSP00000417093:R540H;ENSP00000380731:R530H	.	R	-	2	0	PTPRD	8497359	0.999000	0.42202	0.998000	0.56505	0.958000	0.62258	1.867000	0.39499	2.880000	0.98712	0.650000	0.86243	CGT		0.448	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		
PLIN2	123	broad.mit.edu;mdanderson.org;bcgsc.ca	37	9	19121114	19121114	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:19121114G>A	ENST00000276914.2	-	5	538	c.359C>T	c.(358-360)aCg>aTg	p.T120M	PLIN2_ENST00000411567.1_Missense_Mutation_p.T120M	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	120					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						CACAGTAGTCGTCACAGCATC	0.532																																						.											0													100.0	84.0	90.0					9																	19121114		2203	4300	6503	SO:0001583	missense	123			X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"""Perilipins"""	248	protein-coding gene	gene with protein product	"""adipophilin"""	103195	"""adipose differentiation-related protein"""	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.359C>T	9.37:g.19121114G>A	ENSP00000276914:p.Thr120Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q9BSC3	Missense_Mutation	SNP	ENST00000276914.2	37	CCDS6490.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431934	0.62844	.	.	ENSG00000147872	ENST00000411567;ENST00000276914;ENST00000434144	T;T;T	0.06142	3.87;3.87;3.34	5.27	2.36	0.29203	.	0.901065	0.09834	N	0.749763	T	0.21427	0.0516	M	0.78637	2.42	0.21897	N	0.999485	P;D	0.89917	0.716;1.0	B;D	0.78314	0.207;0.991	T	0.10730	-1.0617	10	0.34782	T	0.22	.	6.7118	0.23282	0.1485:0.0:0.7089:0.1425	.	120;120	E9PG83;Q99541	.;PLIN2_HUMAN	M	120	ENSP00000415270:T120M;ENSP00000276914:T120M;ENSP00000403421:T120M	ENSP00000276914:T120M	T	-	2	0	PLIN2	19111114	1.000000	0.71417	0.457000	0.27056	0.879000	0.50718	5.870000	0.69620	0.297000	0.22615	0.555000	0.69702	ACG		0.532	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1	NM_001122	
PTENP1	11191	broad.mit.edu	37	9	33676393	33676393	+	RNA	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:33676393G>A	ENST00000532280.1	-	0	1104					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		AGGATATTGCGCAACTCTGTA	0.368																																						.											0																																												11191			AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33676393G>A		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP	ENST00000532280.1	37																																																																																					0.368	PTENP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395145.1	NR_023917	
UNC13B	10497	broad.mit.edu;mdanderson.org;bcgsc.ca	37	9	35396917	35396917	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:35396917C>T	ENST00000378495.3	+	27	3490	c.3268C>T	c.(3268-3270)Cga>Tga	p.R1090*	UNC13B_ENST00000396787.1_Nonsense_Mutation_p.R1102*|UNC13B_ENST00000378496.4_Nonsense_Mutation_p.R1090*|UNC13B_ENST00000481299.1_3'UTR	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1090	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GGCCCTGGAACGAGATAAGAA	0.552																																						.											0													156.0	154.0	155.0					9																	35396917		2203	4300	6503	SO:0001587	stop_gained	10497			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.3268C>T	9.37:g.35396917C>T	ENSP00000367756:p.Arg1090*	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VYM8	Nonsense_Mutation	SNP	ENST00000378495.3	37	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	C	44	10.552975	0.99426	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	.	.	.	5.7	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6976	13.3613	0.60657	0.2371:0.7629:0.0:0.0	.	.	.	.	X	1102;1090;1090;677	.	ENSP00000367756:R1090X	R	+	1	2	UNC13B	35386917	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.446000	0.35090	2.682000	0.91365	0.563000	0.77884	CGA		0.552	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377	
GBA2	57704	broad.mit.edu	37	9	35736467	35736467	+	IGR	SNP	C	C	T	rs190901541		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:35736467C>T	ENST00000378103.3	-	0	3611				CREB3_ENST00000353704.2_Missense_Mutation_p.P287L|GBA2_ENST00000467252.1_5'Flank|CREB3_ENST00000486056.1_3'UTR	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCAGAAGTGCCGAAAGACAGC	0.587											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		19716	0.001		0.0	False		,,,				2504	0.0					.											0													95.0	88.0	91.0					9																	35736467		2203	4300	6503	SO:0001628	intergenic_variant	10488			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35736467C>T		Somatic	857	WXS	Illumina HiSeq	Phase_I	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	CCDS6589.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.427	0.637911	0.14386	.	.	ENSG00000107175	ENST00000353704	T	0.64260	-0.09	5.38	2.5	0.30297	.	0.850382	0.10376	N	0.682185	T	0.47691	0.1459	L	0.31926	0.97	0.58432	D	0.999993	B;B	0.24768	0.111;0.054	B;B	0.14578	0.011;0.007	T	0.37079	-0.9721	10	0.41790	T	0.15	.	7.2495	0.26142	0.1394:0.7099:0.0:0.1506	.	311;287	O43889;O43889-2	CREB3_HUMAN;.	L	287	ENSP00000342136:P287L	ENSP00000342136:P287L	P	+	2	0	CREB3	35726467	0.000000	0.05858	0.995000	0.50966	0.182000	0.23217	-0.013000	0.12678	0.759000	0.33084	-0.137000	0.14449	CCG		0.587	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944	
CNTNAP3	79937	broad.mit.edu	37	9	39177437	39177437	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:39177437C>T	ENST00000297668.6	-	6	878	c.805G>A	c.(805-807)Gac>Aac	p.D269N	CNTNAP3_ENST00000377656.2_Missense_Mutation_p.D269N|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.D181N|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.D269N|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.D269N	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	269	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CAGTGCTGGTCGTCCAGCAGG	0.507																																						.											0													70.0	64.0	66.0					9																	39177437		2203	4300	6503	SO:0001583	missense	79937			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.805G>A	9.37:g.39177437C>T	ENSP00000297668:p.Asp269Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337218	0.81911	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659;ENST00000377653	D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03	3.12	3.12	0.35913	Concanavalin A-like lectin/glucanase (2);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (4);Laminin G, subdomain 2 (2);	.	.	.	.	D	0.92919	0.7747	M	0.90425	3.115	0.38141	D	0.938449	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.997;0.932;0.999;0.976	D	0.94840	0.8004	9	0.66056	D	0.02	.	13.3498	0.60595	0.0:1.0:0.0:0.0	.	269;269;269;269;269	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	N	269;269;181;269;269;181	ENSP00000297668:D269N;ENSP00000366884:D269N;ENSP00000350863:D181N;ENSP00000320728:D269N;ENSP00000366887:D269N	ENSP00000297668:D269N	D	-	1	0	CNTNAP3	39167437	1.000000	0.71417	0.189000	0.23252	0.940000	0.58332	6.462000	0.73526	1.735000	0.51646	0.558000	0.71614	GAC		0.507	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655	
PRUNE2	158471	broad.mit.edu	37	9	79322501	79322501	+	Silent	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:79322501T>C	ENST00000376718.3	-	8	4812	c.4689A>G	c.(4687-4689)caA>caG	p.Q1563Q	PRUNE2_ENST00000428286.1_Silent_p.Q1204Q	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1563					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAGAACTGGGTTGCTGGCCCC	0.413																																						.											0													74.0	65.0	68.0					9																	79322501		1568	3582	5150	SO:0001819	synonymous_variant	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.4689A>G	9.37:g.79322501T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.816420	0.00595	.	.	ENSG00000106772	ENST00000426088	.	.	.	5.8	2.31	0.28768	.	.	.	.	.	T	0.24699	0.0599	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.18429	-1.0337	4	.	.	.	0.7131	3.6481	0.08192	0.1698:0.2838:0.0:0.5464	.	.	.	.	A	885	.	.	T	-	1	0	PRUNE2	78512321	0.003000	0.15002	0.006000	0.13384	0.029000	0.11900	-0.108000	0.10857	1.028000	0.39785	0.533000	0.62120	ACC		0.413	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	
SLC28A3	64078	broad.mit.edu	37	9	86895780	86895780	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:86895780G>A	ENST00000376238.4	-	15	1714	c.1665C>T	c.(1663-1665)atC>atT	p.I555I	RP11-380F14.2_ENST00000419815.1_RNA|SLC28A3_ENST00000537648.1_Silent_p.I486I	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	555					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	CGTAAGTGGCGATTATCTCAG	0.428																																					Ovarian(106;425 1539 34835 42413 43572)	.											0													160.0	134.0	143.0					9																	86895780		2203	4300	6503	SO:0001819	synonymous_variant	64078			AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.1665C>T	9.37:g.86895780G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Silent	SNP	ENST00000376238.4	37	CCDS6670.1																																																																																				0.428	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127	
TEX10	54881	broad.mit.edu;ucsc.edu;mdanderson.org	37	9	103064527	103064527	+	Silent	SNP	G	G	A	rs373037476		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:103064527G>A	ENST00000374902.4	-	15	2912	c.2736C>T	c.(2734-2736)aaC>aaT	p.N912N	TEX10_ENST00000477648.1_5'UTR|TEX10_ENST00000535814.1_Silent_p.N896N	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	912						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGATATACACGTTGAAGCAGT	0.448																																						.											0								G	,	1,4405	2.1+/-5.4	0,1,2202	150.0	128.0	136.0		2688,2736	-5.6	0.0	9		136	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TEX10	NM_001161584.1,NM_017746.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	896/914,912/930	103064527	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54881			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.2736C>T	9.37:g.103064527G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Silent	SNP	ENST00000374902.4	37	CCDS6748.1																																																																																				0.448	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746	
MRPL50	54534	broad.mit.edu;mdanderson.org;bcgsc.ca	37	9	104153053	104153053	+	Nonsense_Mutation	SNP	G	G	A	rs150313404		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:104153053G>A	ENST00000374865.4	-	2	193	c.172C>T	c.(172-174)Cga>Tga	p.R58*	MRPL50_ENST00000539624.1_Nonsense_Mutation_p.R58*	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	58						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				GTGTATGCTCGGCTTCGTAAA	0.418																																						.											0								G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	141.0	141.0	141.0		172	3.8	0.7	9	dbSNP_134	141	0,8600		0,0,4300	no	stop-gained	MRPL50	NM_019051.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		58/159	104153053	1,13005	2203	4300	6503	SO:0001587	stop_gained	54534			AK000500	CCDS6753.1	9q31.1	2012-11-14			ENSG00000136897	ENSG00000136897		"""Mitochondrial ribosomal proteins / large subunits"""	16654	protein-coding gene	gene with protein product	"""mitochondrial 39S ribosomal protein L50"""	611854					Standard	NM_019051		Approved	FLJ20493, MRP-L50	uc004bbe.2	Q8N5N7	OTTHUMG00000020384	ENST00000374865.4:c.172C>T	9.37:g.104153053G>A	ENSP00000363999:p.Arg58*	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z358|Q5T7E0|Q9NX15	Nonsense_Mutation	SNP	ENST00000374865.4	37	CCDS6753.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114943	0.77210	2.27E-4	0.0	ENSG00000136897	ENST00000374865;ENST00000539624	.	.	.	5.62	3.75	0.43078	.	0.350015	0.23964	N	0.042831	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.881	6.6634	0.23027	0.083:0.0:0.6018:0.3152	.	.	.	.	X	58	.	ENSP00000363999:R58X	R	-	1	2	MRPL50	103192874	0.926000	0.31397	0.712000	0.30502	0.791000	0.44710	1.265000	0.33027	0.702000	0.31825	0.557000	0.71058	CGA		0.418	MRPL50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053450.1	NM_019051	
NEK6	10783	broad.mit.edu;ucsc.edu	37	9	127064218	127064218	+	5'UTR	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:127064218G>A	ENST00000320246.5	+	0	120				NEK6_ENST00000394199.2_Missense_Mutation_p.R26H|NEK6_ENST00000540326.1_Missense_Mutation_p.R10H|NEK6_ENST00000373603.1_5'UTR|NEK6_ENST00000539416.1_Missense_Mutation_p.R17H|NEK6_ENST00000545174.1_5'UTR|NEK6_ENST00000546191.1_5'UTR|NEK6_ENST00000373600.3_Missense_Mutation_p.R26H	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6						apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						GTTGCAGTTCGTGCCCTCGTG	0.582																																					NSCLC(122;934 1785 18647 44295 45571)	.											0													37.0	32.0	34.0					9																	127064218		2195	4290	6485	SO:0001623	5_prime_UTR_variant	10783			AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"""putative serine-threonine protein kinase"""	604884	"""NIMA (never in mitosis gene a)-related kinase 6"""			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.-26G>A	9.37:g.127064218G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	Missense_Mutation	SNP	ENST00000320246.5	37	CCDS6854.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184141	0.38609	.	.	ENSG00000119408	ENST00000540326;ENST00000373600;ENST00000423785;ENST00000394199;ENST00000539416	T;T;T;T;T	0.71934	-0.61;-0.57;-0.42;-0.57;-0.57	4.85	2.97	0.34412	.	1.576480	0.04628	U	0.403160	T	0.53351	0.1791	N	0.14661	0.345	0.80722	D	1	P;B	0.36733	0.567;0.265	B;B	0.32149	0.141;0.053	T	0.38394	-0.9663	10	0.51188	T	0.08	.	7.0487	0.25061	0.0961:0.1754:0.7285:0.0	.	26;10	Q9HC98-2;Q9HC98-3	.;.	H	10;26;26;26;17	ENSP00000441469:R10H;ENSP00000362702:R26H;ENSP00000399847:R26H;ENSP00000377749:R26H;ENSP00000439651:R17H	ENSP00000362702:R26H	R	+	2	0	NEK6	126104039	0.346000	0.24844	0.908000	0.35775	0.360000	0.29518	0.900000	0.28431	0.703000	0.31848	0.563000	0.77884	CGT		0.582	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054016.1	NM_014397	
ZBTB34	403341	broad.mit.edu;mdanderson.org	37	9	129641862	129641862	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:129641862C>T	ENST00000373452.2	+	1	236	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	ZBTB34_ENST00000319119.4_Missense_Mutation_p.R62W			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	58	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CCCATATTTCCGGGACCATTC	0.468																																						.											0													118.0	127.0	124.0					9																	129641862		2033	4177	6210	SO:0001583	missense	403341			DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.172C>T	9.37:g.129641862C>T	ENSP00000362551:p.Arg58Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q38IA7|Q5VYE9	Missense_Mutation	SNP	ENST00000373452.2	37	CCDS48023.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757294	0.89843	.	.	ENSG00000177125	ENST00000319119;ENST00000373452	T;T	0.70164	-0.46;-0.46	5.53	5.53	0.82687	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.83681	0.5307	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84932	0.0860	10	0.72032	D	0.01	.	19.8241	0.96610	0.0:1.0:0.0:0.0	.	58	Q8NCN2	ZBT34_HUMAN	W	62;58	ENSP00000317534:R62W;ENSP00000362551:R58W	ENSP00000317534:R62W	R	+	1	2	ZBTB34	128681683	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.440000	0.80464	2.758000	0.94735	0.655000	0.94253	CGG		0.468	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001099270	
GTF3C5	9328	broad.mit.edu;ucsc.edu;mdanderson.org	37	9	135919149	135919149	+	Silent	SNP	G	G	A	rs575422131		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:135919149G>A	ENST00000372097.5	+	3	731	c.408G>A	c.(406-408)acG>acA	p.T136T	GTF3C5_ENST00000372099.6_Silent_p.T127T|GTF3C5_ENST00000485692.1_3'UTR|GTF3C5_ENST00000372095.5_Silent_p.T11T|GTF3C5_ENST00000342018.8_Silent_p.T136T|GTF3C5_ENST00000372108.5_Silent_p.T136T	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	136					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		CTGTGCATACGGAAGCAGGCG	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		19894	0.0		0.0	False		,,,				2504	0.001					.											0													102.0	83.0	89.0					9																	135919149		2203	4300	6503	SO:0001819	synonymous_variant	9328			AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"""General transcription factors"""	4668	protein-coding gene	gene with protein product	"""transcription factor IIIC, 63 kD"""	604890	"""general transcription factor IIIC, polypeptide 5 (63kD)"""			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.408G>A	9.37:g.135919149G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Silent	SNP	ENST00000372097.5	37	CCDS6958.1																																																																																				0.567	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054826.1	NM_001122823	
RABL6	55684	broad.mit.edu;mdanderson.org	37	9	139730292	139730292	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:139730292C>T	ENST00000311502.7	+	8	1040	c.804C>T	c.(802-804)taC>taT	p.Y268Y	RABL6_ENST00000432842.2_Silent_p.Y230Y|RABL6_ENST00000371675.3_Silent_p.Y153Y|RABL6_ENST00000371663.4_Silent_p.Y269Y|RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000357466.2_Silent_p.Y268Y			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	268	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										ACCAGAACTACGGCATGTATG	0.687																																						.											0													21.0	29.0	26.0					9																	139730292		2054	4098	6152	SO:0001819	synonymous_variant	55684			AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.804C>T	9.37:g.139730292C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Silent	SNP	ENST00000311502.7	37	CCDS48058.1																																																																																				0.687	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718	
ABCA2	20	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	139915957	139915957	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:139915957G>A	ENST00000371605.3	-	7	928	c.781C>T	c.(781-783)Cag>Tag	p.Q261*	ABCA2_ENST00000265662.5_Nonsense_Mutation_p.Q262*|ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000341511.6_Nonsense_Mutation_p.Q262*			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	261					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGGTAGCCCTGCAGGGCTCCC	0.687																																						.											0													14.0	19.0	17.0					9																	139915957		2158	4267	6425	SO:0001587	stop_gained	20			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.781C>T	9.37:g.139915957G>A	ENSP00000360666:p.Gln261*	Somatic		WXS	Illumina HiSeq	Phase_I	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Nonsense_Mutation	SNP	ENST00000371605.3	37		.	.	.	.	.	.	.	.	.	.	g	24.6	4.544433	0.86022	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	.	.	.	4.03	3.04	0.35103	.	5.649370	0.01815	U	0.033717	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	6.235	0.20758	0.0:0.2773:0.4324:0.2903	.	.	.	.	X	262;261;292;262	.	ENSP00000265662:Q262X	Q	-	1	0	ABCA2	139035778	0.060000	0.20803	0.973000	0.42090	0.347000	0.29111	0.572000	0.23684	1.784000	0.52394	0.197000	0.17608	CAG		0.687	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606	
RNF208	727800	broad.mit.edu;bcgsc.ca	37	9	140115390	140115390	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:140115390G>A	ENST00000392827.1	-	2	443	c.275C>T	c.(274-276)cCg>cTg	p.P92L	RNF208_ENST00000391553.1_Missense_Mutation_p.P92L			Q9H0X6	RN208_HUMAN	ring finger protein 208	92					protein autoubiquitination (GO:0051865)		ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGGCAGTGGCGGGGTATGGGG	0.637																																						.											0													7.0	10.0	9.0					9																	140115390		1905	4068	5973	SO:0001583	missense	727800			AF416715	CCDS7037.2	9q34.3	2007-01-19				ENSG00000212864		"""RING-type (C3HC4) zinc fingers"""	25420	protein-coding gene	gene with protein product						11230166	Standard	NM_031297		Approved	DKFZP761H1710	uc004clz.2	Q9H0X6		ENST00000392827.1:c.275C>T	9.37:g.140115390G>A	ENSP00000376572:p.Pro92Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A2BFA0	Missense_Mutation	SNP	ENST00000392827.1	37	CCDS7037.2	.	.	.	.	.	.	.	.	.	.	G	7.445	0.641575	0.14451	.	.	ENSG00000212864	ENST00000392827;ENST00000391553	T;T	0.37752	1.18;1.18	3.44	3.44	0.39384	.	1.210940	0.06361	N	0.711722	T	0.38558	0.1045	N	0.19112	0.55	0.80722	D	1	D	0.64830	0.994	P	0.53146	0.719	T	0.17684	-1.0361	10	0.30854	T	0.27	-10.054	13.6115	0.62080	0.0:0.0:1.0:0.0	.	92	Q9H0X6	RN208_HUMAN	L	92	ENSP00000376572:P92L;ENSP00000375397:P92L	ENSP00000375397:P92L	P	-	2	0	RNF208	139235211	1.000000	0.71417	0.893000	0.35052	0.127000	0.20565	3.868000	0.56055	1.756000	0.51951	0.491000	0.48974	CCG		0.637	RNF208-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254714.1	NM_031297	
ARSH	347527	broad.mit.edu	37	X	2933300	2933300	+	Silent	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:2933300C>A	ENST00000381130.2	+	4	630	c.630C>A	c.(628-630)tcC>tcA	p.S210S		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	210					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TTTTCACTTCCTGGTACTCTA	0.453																																						.											0													189.0	126.0	148.0					X																	2933300		2203	4300	6503	SO:0001819	synonymous_variant	347527			AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.630C>A	X.37:g.2933300C>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000381130.2	37	CCDS35198.1																																																																																				0.453	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719	
CCDC22	28952	broad.mit.edu;mdanderson.org	37	X	49106626	49106626	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:49106626C>T	ENST00000376227.3	+	17	1958	c.1788C>T	c.(1786-1788)ggC>ggT	p.G596G		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	596										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						CAGAGCTGGGCAAGAAGACCC	0.637																																						.											0													47.0	37.0	40.0					X																	49106626		2096	4057	6153	SO:0001819	synonymous_variant	28952			BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"""chromosome X open reading frame 37"""	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.1788C>T	X.37:g.49106626C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K7G1	Silent	SNP	ENST00000376227.3	37	CCDS14322.1																																																																																				0.637	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060822.1	NM_014008	
HUWE1	10075	broad.mit.edu;bcgsc.ca	37	X	53615355	53615355	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:53615355G>A	ENST00000342160.3	-	36	5058	c.4601C>T	c.(4600-4602)aCg>aTg	p.T1534M	HUWE1_ENST00000218328.8_Missense_Mutation_p.T1534M|HUWE1_ENST00000262854.6_Missense_Mutation_p.T1534M			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1534					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AAAAAGTAGCGTTAAAAGCAA	0.403																																						.											0													96.0	73.0	81.0					X																	53615355		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.4601C>T	X.37:g.53615355G>A	ENSP00000340648:p.Thr1534Met	Somatic		WXS	Illumina HiSeq	Phase_I	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338524	0.81911	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.50277	1.04;1.04;0.75	5.83	5.83	0.93111	Armadillo-like helical (1);	0.119337	0.56097	D	0.000037	T	0.53802	0.1819	L	0.29908	0.895	0.80722	D	1	D;P	0.71674	0.998;0.784	P;B	0.57009	0.811;0.271	T	0.56878	-0.7906	10	0.72032	D	0.01	.	17.7172	0.88341	0.0:0.0:1.0:0.0	.	1534;1534	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	M	1534	ENSP00000340648:T1534M;ENSP00000262854:T1534M;ENSP00000218328:T1534M	ENSP00000218328:T1534M	T	-	2	0	HUWE1	53632080	1.000000	0.71417	0.938000	0.37757	0.939000	0.58152	9.444000	0.97578	2.457000	0.83068	0.600000	0.82982	ACG		0.403	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
PHF8	23133	broad.mit.edu;mdanderson.org	37	X	54012317	54012317	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:54012317G>A	ENST00000357988.5	-	17	2527	c.2169C>T	c.(2167-2169)ggC>ggT	p.G723G	PHF8_ENST00000338154.6_Silent_p.G687G|PHF8_ENST00000322659.8_Intron|PHF8_ENST00000338946.6_Silent_p.G586G	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	723					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TGCCACCAGCGCCACTACCAT	0.552																																						.											0													299.0	195.0	230.0					X																	54012317		2203	4300	6503	SO:0001819	synonymous_variant	23133			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2169C>T	X.37:g.54012317G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Silent	SNP	ENST00000357988.5	37	CCDS55420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.449|9.449	1.089971|1.089971	0.20390|0.20390	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000396282;ENST00000375189|ENST00000443302	.|.	.|.	.|.	5.26|5.26	1.47|1.47	0.22746|0.22746	.|.	.|.	.|.	.|.	.|.	T|T	0.52108|0.52108	0.1714|0.1714	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.38090|0.38090	-0.9677|-0.9677	5|4	0.72032|.	D|.	0.01|.	-5.9991|-5.9991	5.6227|5.6227	0.17465|0.17465	0.0:0.1638:0.5054:0.3307|0.0:0.1638:0.5054:0.3307	.|.	.|.	.|.	.|.	V|C	591;163|451	.|.	ENSP00000364335:A163V|.	A|R	-|-	2|1	0|0	PHF8|PHF8	54029042|54029042	0.697000|0.697000	0.27767|0.27767	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	-0.320000|-0.320000	0.08028|0.08028	0.167000|0.167000	0.19631|0.19631	-0.328000|-0.328000	0.08392|0.08392	GCG|CGC		0.552	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107	
EDA2R	60401	broad.mit.edu	37	X	65819457	65819457	+	Missense_Mutation	SNP	T	T	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:65819457T>G	ENST00000374719.3	-	6	819	c.763A>C	c.(763-765)Aca>Cca	p.T255P	EDA2R_ENST00000396050.1_Missense_Mutation_p.T255P|EDA2R_ENST00000253392.5_Missense_Mutation_p.T276P|EDA2R_ENST00000450752.1_Missense_Mutation_p.T276P|EDA2R_ENST00000451436.2_Missense_Mutation_p.T131P|EDA2R_ENST00000456230.2_Missense_Mutation_p.T255P	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	255					cell differentiation (GO:0030154)|embryo development (GO:0009790)|epidermis development (GO:0008544)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						TCCAGCTCTGTGCATTCGATG	0.577																																						.											0													47.0	39.0	41.0					X																	65819457		2203	4299	6502	SO:0001583	missense	60401			AF298812	CCDS14386.1, CCDS56603.1	Xq11.1	2013-05-22			ENSG00000131080	ENSG00000131080		"""Tumor necrosis factor receptor superfamily"""	17756	protein-coding gene	gene with protein product		300276				11039935	Standard	NM_021783		Approved	XEDAR, EDA-A2R, EDAA2R, TNFRSF27	uc004dwt.2	Q9HAV5	OTTHUMG00000021736	ENST00000374719.3:c.763A>C	X.37:g.65819457T>G	ENSP00000363851:p.Thr255Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	Missense_Mutation	SNP	ENST00000374719.3	37	CCDS14386.1	.	.	.	.	.	.	.	.	.	.	T	18.01	3.527179	0.64860	.	.	ENSG00000131080	ENST00000374719;ENST00000396050;ENST00000451436;ENST00000253392;ENST00000456230;ENST00000450752	D;D;D;D;D	0.92299	-2.63;-2.63;-3.01;-2.63;-3.01	3.7	3.7	0.42460	.	0.214563	0.22867	U	0.054663	D	0.92244	0.7540	L	0.29908	0.895	0.35532	D	0.802292	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.991;0.998;0.921	D	0.93696	0.7011	10	0.87932	D	0	-0.5066	9.5549	0.39332	0.0:0.0:0.0:1.0	.	131;276;255	E7EUS4;Q9HAV5-2;Q9HAV5	.;.;TNR27_HUMAN	P	255;255;131;276;255;276	ENSP00000363851:T255P;ENSP00000379365:T255P;ENSP00000253392:T276P;ENSP00000393935:T255P;ENSP00000402929:T276P	ENSP00000253392:T276P	T	-	1	0	EDA2R	65736182	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.914000	0.56401	1.363000	0.46019	0.425000	0.28330	ACA		0.577	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057002.1	NM_021783	
ERCC6L	54821	broad.mit.edu	37	X	71425000	71425000	+	Missense_Mutation	SNP	C	C	T	rs140225715	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:71425000C>T	ENST00000334463.3	-	2	3752	c.3617G>A	c.(3616-3618)cGt>cAt	p.R1206H	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000373657.1_Missense_Mutation_p.R1083H	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	1206					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TTCTTTTCCACGCTTTACAAG	0.458													C|||	1	0.000264901	0.0008	0.0	3775	,	,		13090	0.0		0.0	False		,,,				2504	0.0					.											0								C	,HIS/ARG	8,3827		0,7,1,1625,570	91.0	78.0	83.0		,3617	2.8	0.2	X	dbSNP_134	83	0,6728		0,0,0,2428,1872	yes	intron,missense	PIN4,ERCC6L	NM_001170747.1,NM_017669.2	,29	0,7,1,4053,2442	TT,TC,T,CC,C		0.0,0.2086,0.0757	,benign	,1206/1251	71425000	8,10555	2203	4300	6503	SO:0001583	missense	54821			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.3617G>A	X.37:g.71425000C>T	ENSP00000334675:p.Arg1206His	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650356	0.29336	0.002086	0.0	ENSG00000186871	ENST00000373657;ENST00000334463	T;T	0.76578	-1.03;-1.03	5.49	2.8	0.32819	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.	.	.	.	T	0.67373	0.2886	L	0.38531	1.155	0.09310	N	1	B	0.16802	0.019	B	0.10450	0.005	T	0.55667	-0.8105	9	0.48119	T	0.1	-0.5306	8.781	0.34792	0.0:0.7424:0.0:0.2576	.	1206	Q2NKX8	ERC6L_HUMAN	H	1083;1206	ENSP00000362761:R1083H;ENSP00000334675:R1206H	ENSP00000334675:R1206H	R	-	2	0	ERCC6L	71341725	0.010000	0.17322	0.226000	0.23910	0.687000	0.40016	0.450000	0.21762	0.161000	0.19458	-0.269000	0.10298	CGT		0.458	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669	
SLC16A2	6567	broad.mit.edu;bcgsc.ca	37	X	73744294	73744294	+	Missense_Mutation	SNP	C	C	T	rs201194222		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:73744294C>T	ENST00000587091.1	+	3	853	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	SLC16A2_ENST00000276033.5_Missense_Mutation_p.R300C	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	226					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)	p.R300C(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	CTACTTTCAACGCCGCCTGGG	0.547																																						.											1	Substitution - Missense(1)	endometrium(1)						C	CYS/ARG	1,3834		0,0,1,1632,570	110.0	83.0	92.0		898	5.8	1.0	X		92	1,6727		0,1,0,2427,1872	yes	missense	SLC16A2	NM_006517.3	180	0,1,1,4059,2442	TT,TC,T,CC,C		0.0149,0.0261,0.0189	probably-damaging	300/614	73744294	2,10561	2203	4300	6503	SO:0001583	missense	6567				CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.676C>T	X.37:g.73744294C>T	ENSP00000465734:p.Arg226Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	CCDS14426.2	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889751	0.72524	2.61E-4	1.49E-4	ENSG00000147100	ENST00000276033	T	0.58797	0.31	5.75	5.75	0.90469	Major facilitator superfamily domain, general substrate transporter (1);	0.321801	0.35235	N	0.003345	T	0.75547	0.3864	M	0.76838	2.35	0.53688	D	0.999975	D	0.89917	1.0	D	0.75020	0.985	T	0.78727	-0.2091	10	0.87932	D	0	.	13.8526	0.63506	0.1524:0.8475:0.0:0.0	.	226	P36021	MOT8_HUMAN	C	300	ENSP00000276033:R300C	ENSP00000276033:R300C	R	+	1	0	SLC16A2	73661019	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.506000	0.53364	2.420000	0.82092	0.597000	0.82753	CGC		0.547	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3		
ATRX	546	broad.mit.edu	37	X	76888847	76888847	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:76888847C>T	ENST00000373344.5	-	19	5196	c.4982G>A	c.(4981-4983)cGt>cAt	p.R1661H	ATRX_ENST00000395603.3_Missense_Mutation_p.R1623H|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1661	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTCCTGAGGACGTTTCACAGT	0.363			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															.		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											209.0	202.0	204.0					X																	76888847		2203	4296	6499	SO:0001583	missense	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4982G>A	X.37:g.76888847C>T	ENSP00000362441:p.Arg1661His	Somatic		WXS	Illumina HiSeq	Phase_I	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073045	0.55646	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.93763	-3.28;-3.28	5.83	5.83	0.93111	DEAD-like helicase (2);SNF2-related (1);	0.066342	0.56097	D	0.000024	D	0.93822	0.8024	L	0.59967	1.855	0.80722	D	1	P;P	0.45176	0.784;0.852	P;P	0.46825	0.528;0.52	D	0.94045	0.7313	10	0.62326	D	0.03	-6.8896	19.0151	0.92890	0.0:1.0:0.0:0.0	.	1623;1661	P46100-4;P46100	.;ATRX_HUMAN	H	1661;1623	ENSP00000362441:R1661H;ENSP00000378967:R1623H	ENSP00000362441:R1661H	R	-	2	0	ATRX	76775503	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	5.662000	0.68032	2.440000	0.82611	0.594000	0.82650	CGT		0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
HDX	139324	broad.mit.edu	37	X	83599463	83599463	+	Silent	SNP	A	A	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:83599463A>C	ENST00000297977.5	-	6	1566	c.1455T>G	c.(1453-1455)acT>acG	p.T485T	HDX_ENST00000506585.2_Silent_p.T427T|HDX_ENST00000373177.2_Silent_p.T485T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	485						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TCCCAATCCAAGTCTTTATAA	0.373																																					Pancreas(53;231 1169 36156 43751 51139)	.											0													39.0	41.0	40.0					X																	83599463		2201	4292	6493	SO:0001819	synonymous_variant	139324			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1455T>G	X.37:g.83599463A>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Silent	SNP	ENST00000297977.5	37	CCDS35342.1																																																																																				0.373	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657	
TEX13A	56157	broad.mit.edu	37	X	104463685	104463685	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:104463685G>A	ENST00000413579.1	-	5	1302	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F	TEX13A_ENST00000372575.1_3'UTR|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372578.3_3'UTR|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	397							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TCCCACAGTCGAAGCAAGTAT	0.478																																						.											0													173.0	163.0	166.0					X																	104463685		2072	4192	6264	SO:0001819	synonymous_variant	56157			AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.1191C>T	X.37:g.104463685G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B1B1G8|Q32NB6	Silent	SNP	ENST00000413579.1	37																																																																																					0.478	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274	
TBC1D8B	54885	broad.mit.edu;mdanderson.org;bcgsc.ca	37	X	106070529	106070529	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:106070529G>A	ENST00000357242.5	+	7	1339	c.1165G>A	c.(1165-1167)Gga>Aga	p.G389R	TBC1D8B_ENST00000310452.2_Missense_Mutation_p.G389R|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.G389R|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.G389R	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	389							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCTCAGATGCGGAGCAGCTTC	0.373																																						.											0													89.0	88.0	89.0					X																	106070529		2203	4299	6502	SO:0001583	missense	54885			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1165G>A	X.37:g.106070529G>A	ENSP00000349781:p.Gly389Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	g	7.605	0.673622	0.14776	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000481617;ENST00000276175	T;T;T;T	0.22539	3.18;2.57;1.95;3.17	5.36	4.48	0.54585	.	0.188414	0.46145	N	0.000304	T	0.10809	0.0264	N	0.17474	0.49	0.30827	N	0.737095	B;B;B	0.14012	0.005;0.001;0.009	B;B;B	0.10450	0.003;0.001;0.005	T	0.22347	-1.0219	10	0.14656	T	0.56	-1.9774	6.6205	0.22800	0.1004:0.1854:0.7142:0.0	.	389;389;389	Q0IIM8;B9A6K6;D6RFZ2	TBC8B_HUMAN;.;.	R	389	ENSP00000349781:G389R;ENSP00000310675:G389R;ENSP00000421375:G389R;ENSP00000276175:G389R	ENSP00000276175:G389R	G	+	1	0	TBC1D8B	105957185	0.986000	0.35501	0.107000	0.21349	0.337000	0.28794	1.727000	0.38095	0.990000	0.38787	0.502000	0.49764	GGA		0.373	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752	
ATP11C	286410	broad.mit.edu;mdanderson.org	37	X	138884415	138884415	+	Silent	SNP	C	C	T	rs376810884		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:138884415C>T	ENST00000327569.3	-	7	746	c.648G>A	c.(646-648)caG>caA	p.Q216Q	ATP11C_ENST00000370543.1_Silent_p.Q216Q|ATP11C_ENST00000361648.2_Silent_p.Q216Q|ATP11C_ENST00000370557.1_Silent_p.Q213Q|ATP11C_ENST00000359686.2_Silent_p.Q216Q	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	216					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CAGGTTGAGGCTGTTCACATT	0.423																																						.											0								C	,	0,3835		0,0,1632,571	286.0	228.0	247.0		648,648	3.9	1.0	X		247	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous	ATP11C	NM_001010986.2,NM_173694.4	,	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	,	216/1120,216/1133	138884415	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	286410			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.648G>A	X.37:g.138884415C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	ENST00000327569.3	37	CCDS14668.1																																																																																				0.423	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694	
PLXNB3	5365	broad.mit.edu	37	X	153037418	153037418	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:153037418G>A	ENST00000361971.5	+	15	2731	c.2617G>A	c.(2617-2619)Gtg>Atg	p.V873M	PLXNB3_ENST00000538282.1_Missense_Mutation_p.V483M|PLXNB3_ENST00000538966.1_Missense_Mutation_p.V896M|PLXNB3_ENST00000538776.1_Missense_Mutation_p.V526M|PLXNB3_ENST00000538543.1_3'UTR	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	873	IPT/TIG 1.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCCGTGAGCGTGGCCAGCCG	0.697																																						.											0													39.0	35.0	36.0					X																	153037418		2195	4292	6487	SO:0001583	missense	5365			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.2617G>A	X.37:g.153037418G>A	ENSP00000355378:p.Val873Met	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.416537	0.62511	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	4.96	4.96	0.65561	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87281	0.6138	M	0.76433	2.335	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.984;0.997;0.999	D	0.88962	0.3394	10	0.87932	D	0	.	14.6355	0.68686	0.0:0.0:1.0:0.0	.	526;555;896;873	B7Z3H9;B7Z9A5;F5H773;Q9ULL4	.;.;.;PLXB3_HUMAN	M	896;873;526;483	ENSP00000442736:V896M;ENSP00000355378:V873M;ENSP00000445569:V526M;ENSP00000441919:V483M	ENSP00000355378:V873M	V	+	1	0	PLXNB3	152690612	1.000000	0.71417	0.892000	0.35008	0.041000	0.13682	7.691000	0.84191	2.035000	0.60131	0.513000	0.50165	GTG		0.697	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1		
MECP2	4204	broad.mit.edu;mdanderson.org;bcgsc.ca	37	X	153296438	153296438	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:153296438C>T	ENST00000303391.6	-	4	1090	c.841G>A	c.(841-843)Gcc>Acc	p.A281T	MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000453960.2_Missense_Mutation_p.A293T	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	281					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGGCCTCGGCGGCAGCGGCT	0.612																																						.											0													48.0	49.0	48.0					X																	153296438		2195	4279	6474	SO:0001583	missense	4204			AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.841G>A	X.37:g.153296438C>T	ENSP00000301948:p.Ala281Thr	Somatic		WXS	Illumina HiSeq	Phase_I	O15233|Q6QHH9|Q7Z384	Missense_Mutation	SNP	ENST00000303391.6	37	CCDS14741.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595254	0.28445	.	.	ENSG00000169057	ENST00000303391;ENST00000545451;ENST00000453960	D;D	0.91945	-2.94;-2.93	5.06	5.06	0.68205	.	0.273357	0.41001	D	0.000965	T	0.81683	0.4874	N	0.19112	0.55	0.80722	D	1	P;P	0.49253	0.82;0.921	B;B	0.32762	0.152;0.129	T	0.82571	-0.0391	10	0.08837	T	0.75	-13.0911	16.204	0.82108	0.0:1.0:0.0:0.0	.	293;281	P51608-2;P51608	.;MECP2_HUMAN	T	281;281;293	ENSP00000301948:A281T;ENSP00000395535:A293T	ENSP00000301948:A281T	A	-	1	0	MECP2	152949632	0.756000	0.28383	0.130000	0.21974	0.767000	0.43475	2.124000	0.42006	2.344000	0.79699	0.600000	0.82982	GCC		0.612	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992	
F8	2157	broad.mit.edu;mdanderson.org;bcgsc.ca	37	X	154197604	154197604	+	Splice_Site	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:154197604A>G	ENST00000360256.4	-	7	1210		c.e7+1		F8_ENST00000483822.1_5'Flank	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component						acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCAAGATATTACCATGTTGGT	0.358																																						.											0													70.0	63.0	66.0					X																	154197604		2203	4300	6503	SO:0001630	splice_region_variant	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1009+1T>C	X.37:g.154197604A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q14286|Q5HY69	Splice_Site	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.952972	0.53293	.	.	ENSG00000185010	ENST00000360256	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1694	0.54148	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	F8	153850798	1.000000	0.71417	0.997000	0.53966	0.645000	0.38454	6.308000	0.72820	1.894000	0.54839	0.441000	0.28932	.		0.358	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		Intron
STK10	6793	broad.mit.edu	37	5	171482625	171482626	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:171482625_171482626insC	ENST00000176763.5	-	16	2835_2836	c.2492_2493insG	c.(2491-2493)ggcfs	p.G831fs		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	831	Gln-rich.				cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGCTGCGCTGCCCCCGCCGTT	0.653																																						.											0																																										SO:0001589	frameshift_variant	6793			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2493dupG	5.37:g.171482630_171482630dupC	ENSP00000176763:p.Gly831fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Frame_Shift_Ins	INS	ENST00000176763.5	37	CCDS34290.1																																																																																				0.653	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990	
AP1M2	10053	ucsc.edu;mdanderson.org;bcgsc.ca	37	19	10692022	10692022	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:10692022A>G	ENST00000250244.6	-	6	675	c.593T>C	c.(592-594)aTc>aCc	p.I198T	AP1M2_ENST00000590923.1_Missense_Mutation_p.I198T	NM_005498.4	NP_005489.2	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	198	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein targeting (GO:0006605)|regulation of defense response to virus by virus (GO:0050690)|vesicle targeting (GO:0006903)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CTTGAGCTTGATGGTACCGAC	0.562											OREG0025241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													56.0	57.0	57.0					19																	10692022		2065	4220	6285	SO:0001583	missense	10053			AF020797	CCDS45964.1	19p13.2	2008-10-07				ENSG00000129354			558	protein-coding gene	gene with protein product		607309				10338135	Standard	NM_005498		Approved	HSMU1B, mu2, AP1-mu2	uc002mpc.3	Q9Y6Q5		ENST00000250244.6:c.593T>C	19.37:g.10692022A>G	ENSP00000250244:p.Ile198Thr	Somatic	666	WXS	Illumina HiSeq	Phase_I	B2RDV5|Q9BSI8	Missense_Mutation	SNP	ENST00000250244.6	37	CCDS45964.1	.	.	.	.	.	.	.	.	.	.	a	22.3	4.268826	0.80469	.	.	ENSG00000129354	ENST00000250244	T	0.32988	1.43	5.28	4.25	0.50352	Clathrin adaptor, mu subunit, C-terminal (3);	0.119066	0.56097	D	0.000037	T	0.62950	0.2470	H	0.97315	3.98	0.54753	D	0.999986	P;B	0.47034	0.889;0.065	P;B	0.55222	0.771;0.093	T	0.73040	-0.4108	10	0.87932	D	0	-44.2162	11.4368	0.50072	0.8485:0.1515:0.0:0.0	.	198;198	Q9Y6Q5-2;Q9Y6Q5	.;AP1M2_HUMAN	T	198	ENSP00000250244:I198T	ENSP00000250244:I198T	I	-	2	0	AP1M2	10553022	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	9.284000	0.95882	0.832000	0.34804	0.449000	0.29647	ATC		0.562	AP1M2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452034.1		
AQP1	358	ucsc.edu;mdanderson.org	37	7	30951659	30951659	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:30951659G>A	ENST00000311813.4	+	1	190	c.135G>A	c.(133-135)gcG>gcA	p.A45A	AQP1_ENST00000434909.2_Silent_p.A105A|AQP1_ENST00000509504.1_Silent_p.A222A	NM_198098.2	NP_932766.1	P29972	AQP1_HUMAN	aquaporin 1 (Colton blood group)	45			A -> V (in Co(A-B+) antigen; dbSNP:rs28362692). {ECO:0000269|PubMed:7521882, ECO:0000269|Ref.6}.	A -> T (in Ref. 10; AAH22486). {ECO:0000305}.	ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|camera-type eye morphogenesis (GO:0048593)|carbon dioxide transmembrane transport (GO:0035378)|carbon dioxide transport (GO:0015670)|cation transmembrane transport (GO:0098655)|cell volume homeostasis (GO:0006884)|cellular homeostasis (GO:0019725)|cellular hyperosmotic response (GO:0071474)|cellular response to cAMP (GO:0071320)|cellular response to copper ion (GO:0071280)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to inorganic substance (GO:0071241)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mercury ion (GO:0071288)|cellular response to nitric oxide (GO:0071732)|cellular response to retinoic acid (GO:0071300)|cellular response to salt stress (GO:0071472)|cellular response to stress (GO:0033554)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|cGMP biosynthetic process (GO:0006182)|corticotropin secretion (GO:0051458)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|glomerular filtration (GO:0003094)|glycerol transport (GO:0015793)|hyperosmotic salinity response (GO:0042538)|lateral ventricle development (GO:0021670)|lipid digestion (GO:0044241)|maintenance of symbiont-containing vacuole by host (GO:0085018)|metanephric descending thin limb development (GO:0072220)|metanephric glomerulus vasculature development (GO:0072239)|metanephric proximal convoluted tubule segment 2 development (GO:0072232)|metanephric proximal straight tubule development (GO:0072230)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|nitric oxide transport (GO:0030185)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|positive regulation of angiogenesis (GO:0045766)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of saliva secretion (GO:0046878)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|renal water absorption (GO:0070295)|renal water transport (GO:0003097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|secretory granule organization (GO:0033363)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)|transepithelial water transport (GO:0035377)|transmembrane transport (GO:0055085)|water transport (GO:0006833)|wound healing (GO:0042060)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|symbiont-containing vacuole (GO:0020003)	ammonium transmembrane transporter activity (GO:0008519)|carbon dioxide transmembrane transporter activity (GO:0035379)|glycerol transmembrane transporter activity (GO:0015168)|intracellular cGMP activated cation channel activity (GO:0005223)|nitric oxide transmembrane transporter activity (GO:0030184)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)|transmembrane transporter activity (GO:0022857)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)			Acetazolamide(DB00819)	ACCAGACGGCGGTCCAGGACA	0.647																																						.											0													48.0	50.0	49.0					7																	30951659		2203	4300	6503	SO:0001819	synonymous_variant	358			M77829	CCDS5431.1, CCDS55096.1, CCDS55097.1, CCDS55098.1	7p14	2014-07-19	2014-01-02		ENSG00000240583	ENSG00000240583		"""Ion channels / Aquaporins"", ""Blood group antigens"""	633	protein-coding gene	gene with protein product		107776	"""Colton blood group"", ""aquaporin 1 (channel-forming integral protein, 28kDa)"", ""aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)"", ""aquaporin 1"""	CO		1722319, 3166547	Standard	NM_198098		Approved	CHIP28		P29972	OTTHUMG00000023944	ENST00000311813.4:c.135G>A	7.37:g.30951659G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B5BU39|E7EM69|E9PC21|F5GY19|Q8TBI5|Q8TDC1	Silent	SNP	ENST00000311813.4	37	CCDS5431.1																																																																																				0.647	AQP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215002.3	NM_000385	
BRD1	23774	ucsc.edu	37	22	50217223	50217223	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:50217223A>G	ENST00000216267.8	-	1	1229	c.743T>C	c.(742-744)gTg>gCg	p.V248A	BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000542442.1_5'Flank|BRD1_ENST00000457780.2_Missense_Mutation_p.V248A|BRD1_ENST00000404034.1_Missense_Mutation_p.V248A|BRD1_ENST00000404760.1_Missense_Mutation_p.V248A	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	248					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GATGTAGGGCACCCCGTAGCA	0.662																																						.											0													35.0	31.0	32.0					22																	50217223		2203	4300	6503	SO:0001583	missense	23774			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.743T>C	22.37:g.50217223A>G	ENSP00000216267:p.Val248Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.334999	0.81801	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	5.0	5.0	0.66597	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.93697	0.7986	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.94314	0.7548	9	.	.	.	.	14.7	0.69150	1.0:0.0:0.0:0.0	.	248;248;248	Q86X06;O95696;O95696-2	.;BRD1_HUMAN;.	A	248	ENSP00000216267:V248A;ENSP00000384076:V248A;ENSP00000385858:V248A;ENSP00000410042:V248A	.	V	-	2	0	BRD1	48603227	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	8.769000	0.91742	1.882000	0.54519	0.383000	0.25322	GTG		0.662	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577	
TRPV2	51393	ucsc.edu	37	17	16342646	16342646	+	IGR	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:16342646C>T	ENST00000338560.7	+	0	2808				C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000384229.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000475953.1_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000481898.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GGTAGGGCCACATCTGCCAGA	0.667																																						.											0													34.0	44.0	41.0					17																	16342646		2202	4298	6500	SO:0001628	intergenic_variant	125144			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989		17.37:g.16342646C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NML2|A8K0Z0|Q9Y670	RNA	SNP	ENST00000338560.7	37	CCDS32576.1																																																																																				0.667	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113	
CACNA1B	774	ucsc.edu;mdanderson.org	37	9	140865971	140865971	+	Silent	SNP	C	C	T	rs78326958	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:140865971C>T	ENST00000371372.1	+	11	1615	c.1470C>T	c.(1468-1470)tgC>tgT	p.C490C	CACNA1B_ENST00000277551.2_Silent_p.C490C|CACNA1B_ENST00000371363.1_Silent_p.C490C|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Silent_p.C491C|CACNA1B_ENST00000371357.1_Silent_p.C491C	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	490					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGTGCTGTGCGTGGTGGCCC	0.577													C|||	56	0.0111821	0.0129	0.0101	5008	,	,		18426	0.006		0.0119	False		,,,				2504	0.0143					.											0								C		53,4309		0,53,2128	102.0	117.0	111.0		1470	-9.6	0.8	9	dbSNP_131	111	86,8452		0,86,4183	no	coding-synonymous	CACNA1B	NM_000718.3		0,139,6311	TT,TC,CC		1.0073,1.215,1.0775		490/2340	140865971	139,12761	2181	4269	6450	SO:0001819	synonymous_variant	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1470C>T	9.37:g.140865971C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B1AQK5	Silent	SNP	ENST00000371372.1	37	CCDS59522.1																																																																																				0.577	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
CDC42BPA	8476	ucsc.edu;bcgsc.ca	37	1	227504801	227504801	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:227504801A>G	ENST00000366769.3	-	1	1374	c.83T>C	c.(82-84)gTg>gCg	p.V28A	CDC42BPA_ENST00000366764.2_Missense_Mutation_p.V28A|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.V28A|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.V28A|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.V28A|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.V28A|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.V28A	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TAATGTCTCCACACTGAAGCA	0.448																																						.											0													133.0	119.0	124.0					1																	227504801		2203	4300	6503	SO:0001583	missense	8476			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.83T>C	1.37:g.227504801A>G	ENSP00000355731:p.Val28Ala	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000366769.3	37	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.659730	0.88154	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.68025	-0.28;-0.22;-0.3;-0.29;-0.3;-0.26;-0.3	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.74504	0.3725	M	0.79475	2.455	0.58432	D	0.999993	P;P;P;P	0.46578	0.878;0.84;0.801;0.88	P;P;B;P	0.49301	0.584;0.538;0.428;0.606	T	0.77920	-0.2407	10	0.51188	T	0.08	.	14.6849	0.69042	1.0:0.0:0.0:0.0	.	28;28;28;28	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	A	28	ENSP00000355731:V28A;ENSP00000355729:V28A;ENSP00000335341:V28A;ENSP00000355728:V28A;ENSP00000355726:V28A;ENSP00000443275:V28A;ENSP00000355727:V28A	ENSP00000335341:V28A	V	-	2	0	CDC42BPA	225571424	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.880000	0.92407	1.932000	0.55993	0.460000	0.39030	GTG		0.448	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826	
CDK5RAP3	80279	ucsc.edu	37	17	46053334	46053334	+	Silent	SNP	A	A	G	rs202125432	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:46053334A>G	ENST00000338399.4	+	8	859	c.753A>G	c.(751-753)gaA>gaG	p.E251E	CDK5RAP3_ENST00000536708.2_Silent_p.E276E|RP11-6N17.9_ENST00000582262.1_RNA	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	251					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)	p.E251E(1)		NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						CTGTGGTGGAACGACCCCACC	0.602																																						.											1	Substitution - coding silent(1)	prostate(1)																																								SO:0001819	synonymous_variant	80279			AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"""ischemic heart CDK5 activator-binding protein C53"", ""LXXLL/leucine-zipper-containing ARFbinding protein"""	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.753A>G	17.37:g.46053334A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Silent	SNP	ENST00000338399.4	37	CCDS42356.1																																																																																				0.602	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	NM_176096	
CST5	1473	ucsc.edu;mdanderson.org;bcgsc.ca	37	20	23858242	23858242	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:23858242A>G	ENST00000304710.4	-	2	318	c.245T>C	c.(244-246)gTg>gCg	p.V82A		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	82					negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						GTAGTAGTTCACCCCACCCAC	0.532																																						.											0													199.0	147.0	165.0					20																	23858242		2203	4300	6503	SO:0001583	missense	1473				CCDS13162.1	20p11.21	2008-04-15			ENSG00000170367	ENSG00000170367			2477	protein-coding gene	gene with protein product		123858				1939105	Standard	NM_001900		Approved		uc002wtr.1	P28325	OTTHUMG00000032089	ENST00000304710.4:c.245T>C	20.37:g.23858242A>G	ENSP00000307132:p.Val82Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JRF5|Q9UCA0	Missense_Mutation	SNP	ENST00000304710.4	37	CCDS13162.1	.	.	.	.	.	.	.	.	.	.	A	11.84	1.758309	0.31137	.	.	ENSG00000170367	ENST00000304710	T	0.27402	1.67	2.56	1.43	0.22495	Proteinase inhibitor I25, cystatin, conserved site (1);Proteinase inhibitor I25, cystatin (2);	1.558470	0.04237	U	0.336299	T	0.50377	0.1612	M	0.77103	2.36	0.09310	N	1	P	0.52692	0.955	P	0.61533	0.89	T	0.12785	-1.0534	10	0.30854	T	0.27	.	4.3883	0.11328	0.8291:0.0:0.1709:0.0	.	82	P28325	CYTD_HUMAN	A	82	ENSP00000307132:V82A	ENSP00000307132:V82A	V	-	2	0	CST5	23806242	0.030000	0.19436	0.050000	0.19076	0.025000	0.11179	0.314000	0.19432	0.230000	0.21059	-0.464000	0.05259	GTG		0.532	CST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078355.2	NM_001900	
CEP250	11190	ucsc.edu;mdanderson.org;bcgsc.ca	37	20	34050290	34050290	+	Missense_Mutation	SNP	A	A	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:34050290A>C	ENST00000397527.1	+	4	818	c.98A>C	c.(97-99)gAg>gCg	p.E33A	CEP250_ENST00000397524.1_Missense_Mutation_p.E33A|CEP250_ENST00000342580.4_Missense_Mutation_p.E33A	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	33					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CAGATGGCAGAGAATCAGGCA	0.582																																						.											0													42.0	38.0	40.0					20																	34050290		2203	4299	6502	SO:0001583	missense	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.98A>C	20.37:g.34050290A>C	ENSP00000380661:p.Glu33Ala	Somatic		WXS	Illumina HiSeq	Phase_I	E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	A	19.61	3.859359	0.71834	.	.	ENSG00000126001	ENST00000446710;ENST00000420564;ENST00000397527;ENST00000342580;ENST00000397524;ENST00000425934	T;T;T;T	0.55760	2.43;2.37;0.5;1.4	5.12	5.12	0.69794	.	0.228497	0.30809	N	0.008828	T	0.51975	0.1706	M	0.71581	2.175	0.45883	D	0.998736	P	0.46142	0.873	B	0.39660	0.306	T	0.61128	-0.7125	10	0.72032	D	0.01	.	12.5217	0.56062	1.0:0.0:0.0:0.0	.	33	Q9BV73	CP250_HUMAN	A	33	ENSP00000380661:E33A;ENSP00000341541:E33A;ENSP00000380658:E33A;ENSP00000413827:E33A	ENSP00000341541:E33A	E	+	2	0	CEP250	33513704	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	6.683000	0.74533	2.132000	0.65825	0.528000	0.53228	GAG		0.582	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186	
CYP27B1	1594	ucsc.edu;mdanderson.org	37	12	58160795	58160795	+	Missense_Mutation	SNP	T	T	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:58160795T>G	ENST00000228606.4	-	1	239	c.30A>C	c.(28-30)agA>agC	p.R10S	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	10					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	GATGGAACACTCTGGAGGCGT	0.597																																						.											0													81.0	96.0	91.0					12																	58160795		2203	4300	6503	SO:0001583	missense	1594			AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.30A>C	12.37:g.58160795T>G	ENSP00000228606:p.Arg10Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.553432	0.45487	.	.	ENSG00000111012	ENST00000228606	T	0.77098	-1.07	5.26	-3.2	0.05156	.	0.400045	0.25285	N	0.031768	T	0.47021	0.1423	N	0.08118	0	0.09310	N	1	B	0.32573	0.376	B	0.26770	0.073	T	0.51988	-0.8635	10	0.07175	T	0.84	.	10.5905	0.45306	0.0:0.622:0.1134:0.2646	.	10	O15528	CP27B_HUMAN	S	10	ENSP00000228606:R10S	ENSP00000228606:R10S	R	-	3	2	CYP27B1	56447062	0.234000	0.23783	0.002000	0.10522	0.031000	0.12232	-0.194000	0.09559	-1.300000	0.02341	-1.937000	0.00501	AGA		0.597	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785	
EMCN	51705	ucsc.edu;mdanderson.org	37	4	101386644	101386644	+	Silent	SNP	G	G	A	rs115243972	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:101386644G>A	ENST00000296420.4	-	4	490	c.312C>T	c.(310-312)aaC>aaT	p.N104N	EMCN_ENST00000502327.1_5'UTR|EMCN_ENST00000511970.1_Silent_p.N104N|EMCN_ENST00000305864.3_Silent_p.N104N	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	104	Thr-rich.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		TTACTGTTACGTTTGAAATGA	0.368													G|||	25	0.00499201	0.0166	0.0029	5008	,	,		18716	0.0		0.0	False		,,,				2504	0.001					.											0								G	,	101,4305	80.9+/-119.3	2,97,2104	191.0	168.0	176.0		312,312	-7.9	0.0	4	dbSNP_132	176	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	EMCN	NM_001159694.1,NM_016242.3	,	2,99,6402	AA,AG,GG		0.0233,2.2923,0.7919	,	104/249,104/262	101386644	103,12903	2203	4300	6503	SO:0001819	synonymous_variant	51705			AF205940	CCDS3655.1, CCDS54782.1	4q22.1	2008-02-05			ENSG00000164035	ENSG00000164035		"""Mucins"""	16041	protein-coding gene	gene with protein product		608350				11418125, 11594763	Standard	NM_016242		Approved	MUC14	uc003hvr.3	Q9ULC0	OTTHUMG00000131051	ENST00000296420.4:c.312C>T	4.37:g.101386644G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K716|B4E347|Q8NEY5|Q8WWE7|Q9NRM8	Silent	SNP	ENST00000296420.4	37	CCDS3655.1																																																																																				0.368	EMCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253699.2	NM_016242	
FAT3	120114	ucsc.edu;mdanderson.org;bcgsc.ca	37	11	92577151	92577151	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:92577151C>T	ENST00000298047.6	+	18	10635	c.10618C>T	c.(10618-10620)Cga>Tga	p.R3540*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.R3540*|FAT3_ENST00000533797.1_5'Flank|FAT3_ENST00000525166.1_Nonsense_Mutation_p.R3390*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3540	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CATCCGCGTGCGAGTCATTGA	0.468										TCGA Ovarian(4;0.039)																												.											0													169.0	166.0	167.0					11																	92577151		1940	4143	6083	SO:0001587	stop_gained	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10618C>T	11.37:g.92577151C>T	ENSP00000298047:p.Arg3540*	Somatic		WXS	Illumina HiSeq	Phase_I	B5MDB0|Q96AU6	Nonsense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	C	51	18.536724	0.99906	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	.	.	.	5.62	2.63	0.31362	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	15.3673	0.74531	0.6076:0.3924:0.0:0.0	.	.	.	.	X	3540;3540;3390	.	ENSP00000298047:R3540X	R	+	1	2	FAT3	92216799	0.944000	0.32072	0.995000	0.50966	0.339000	0.28857	0.871000	0.28023	0.278000	0.22164	0.561000	0.74099	CGA		0.468	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FGFRL1	53834	ucsc.edu	37	4	1017489	1017489	+	Missense_Mutation	SNP	A	A	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:1017489A>C	ENST00000398484.2	+	5	993	c.413A>C	c.(412-414)gAc>gCc	p.D138A	FGFRL1_ENST00000264748.6_Missense_Mutation_p.D138A|FGFRL1_ENST00000510644.1_Missense_Mutation_p.D138A|FGFRL1_ENST00000504138.1_Missense_Mutation_p.D138A			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	138					diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGTCAAGAGGACCCCGCCAGC	0.697																																						.											0													6.0	8.0	7.0					4																	1017489		2156	4227	6383	SO:0001583	missense	53834				CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.413A>C	4.37:g.1017489A>C	ENSP00000381498:p.Asp138Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	37	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	a	7.133	0.580375	0.13686	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000507339;ENST00000264748	T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;0.08;-0.66	4.39	4.39	0.52855	.	0.765487	0.12236	N	0.487022	T	0.57330	0.2046	N	0.24115	0.695	0.44149	D	0.996949	B	0.16396	0.017	B	0.12156	0.007	T	0.49072	-0.8977	10	0.26408	T	0.33	-24.6479	12.834	0.57763	1.0:0.0:0.0:0.0	.	138	Q8N441	FGRL1_HUMAN	A	138;108;138;138;138;138	ENSP00000381498:D138A;ENSP00000425025:D138A;ENSP00000423091:D138A;ENSP00000424037:D138A;ENSP00000264748:D138A	ENSP00000264748:D138A	D	+	2	0	FGFRL1	1007489	0.247000	0.23920	0.998000	0.56505	0.806000	0.45545	0.568000	0.23623	1.620000	0.50308	0.358000	0.22013	GAC		0.697	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923	
ITSN1	6453	ucsc.edu;mdanderson.org;bcgsc.ca	37	21	35260567	35260567	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr21:35260567T>C	ENST00000381318.3	+	40	5417	c.5129T>C	c.(5128-5130)gTg>gCg	p.V1710A	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.V1705A|ITSN1_ENST00000381285.4_Missense_Mutation_p.V1710A|ITSN1_ENST00000437442.2_Missense_Mutation_p.V1649A|ITSN1_ENST00000399326.3_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1710					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GGAGAGATTGTGGTCCGCTTG	0.592																																						.											0													68.0	60.0	63.0					21																	35260567		2203	4300	6503	SO:0001583	missense	6453			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.5129T>C	21.37:g.35260567T>C	ENSP00000370719:p.Val1710Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	T	19.92	3.916719	0.73098	.	.	ENSG00000205726	ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.65	5.65	0.86999	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.73892	0.3645	L	0.38175	1.15	0.80722	D	1	D;D;D	0.71674	0.998;0.994;0.994	D;D;D	0.75484	0.986;0.97;0.97	T	0.71407	-0.4602	10	0.29301	T	0.29	.	15.8787	0.79185	0.0:0.0:0.0:1.0	.	1649;1705;1710	A8CTY3;A8CTX8;Q15811	.;.;ITSN1_HUMAN	A	1710;1710;1639;1705;1649	ENSP00000370719:V1710A;ENSP00000370685:V1710A;ENSP00000382301:V1705A;ENSP00000387377:V1649A	ENSP00000370685:V1710A	V	+	2	0	ITSN1	34182437	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	7.671000	0.83941	2.139000	0.66308	0.533000	0.62120	GTG		0.592	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024	
MED9	55090	ucsc.edu	37	17	17380564	17380564	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:17380564A>G	ENST00000268711.3	+	1	265	c.209A>G	c.(208-210)cAc>cGc	p.H70R	MED9_ENST00000580462.1_Missense_Mutation_p.H70R|MED9_ENST00000585041.1_3'UTR	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	70						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCTTTGGTTCACAACATCATC	0.597																																						.											0													34.0	34.0	34.0					17																	17380564		2203	4300	6503	SO:0001583	missense	55090			BC000647	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026			25487	protein-coding gene	gene with protein product		609878	"""mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"""			11997338	Standard	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	Q9NWA0	OTTHUMG00000059293	ENST00000268711.3:c.209A>G	17.37:g.17380564A>G	ENSP00000268711:p.His70Arg	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000268711.3	37	CCDS11184.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.338659	0.81911	.	.	ENSG00000141026	ENST00000268711	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.70971	0.3285	L	0.59912	1.85	0.44439	D	0.997367	D	0.62365	0.991	D	0.78314	0.991	T	0.71609	-0.4541	9	0.48119	T	0.1	-36.0499	12.4145	0.55486	1.0:0.0:0.0:0.0	.	70	Q9NWA0	MED9_HUMAN	R	70	.	ENSP00000268711:H70R	H	+	2	0	MED9	17321289	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.540000	0.60664	2.182000	0.69389	0.482000	0.46254	CAC		0.597	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131669.2	NM_018019	
MS4A15	219995	ucsc.edu;mdanderson.org;bcgsc.ca	37	11	60535105	60535105	+	Missense_Mutation	SNP	G	G	A	rs76307175	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:60535105G>A	ENST00000405633.3	+	3	404	c.325G>A	c.(325-327)Gtc>Atc	p.V109I	MS4A15_ENST00000337911.4_Missense_Mutation_p.V16I|MS4A15_ENST00000528170.1_Intron	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	109						integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(3)	6						CGAGGGCGGCGTCCCCTTCTG	0.682													G|||	20	0.00399361	0.0	0.0072	5008	,	,		13559	0.001		0.0139	False		,,,				2504	0.0					.											0								G	ILE/VAL,ILE/VAL	6,4334		0,6,2164	30.0	23.0	25.0		325,46	2.8	0.9	11	dbSNP_134	25	42,8438		0,42,4198	yes	missense,missense	MS4A15	NM_001098835.1,NM_152717.2	29,29	0,48,6362	AA,AG,GG		0.4953,0.1382,0.3744	benign,benign	109/241,16/148	60535105	48,12772	2170	4240	6410	SO:0001583	missense	219995			AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		ENST00000405633.3:c.325G>A	11.37:g.60535105G>A	ENSP00000386022:p.Val109Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A9UJY6|A9UJY7|F2Z2J5	Missense_Mutation	SNP	ENST00000405633.3	37	CCDS44617.1	12	0.005494505494505495	0	0.0	1	0.0027624309392265192	0	0.0	11	0.014511873350923483	G	10.69	1.420060	0.25552	0.001382	0.004953	ENSG00000166961	ENST00000337911;ENST00000405633	T;T	0.02323	4.34;4.34	4.93	2.75	0.32379	.	0.320649	0.30311	N	0.009907	T	0.01092	0.0036	N	0.11106	0.095	0.29717	N	0.838982	B	0.24368	0.102	B	0.26693	0.072	T	0.38585	-0.9654	10	0.27082	T	0.32	-50.2615	3.8604	0.08993	0.1587:0.2552:0.5861:0.0	.	109	Q8N5U1	M4A15_HUMAN	I	16;109	ENSP00000338692:V16I;ENSP00000386022:V109I	ENSP00000338692:V16I	V	+	1	0	MS4A15	60291681	0.978000	0.34361	0.914000	0.36105	0.562000	0.35680	1.994000	0.40757	1.052000	0.40392	0.561000	0.74099	GTC		0.682	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395618.1		
MYH13	8735	ucsc.edu;mdanderson.org	37	17	10267836	10267836	+	Silent	SNP	G	G	A	rs34042358	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:10267836G>A	ENST00000418404.3	-	2	175	c.12C>T	c.(10-12)gaC>gaT	p.D4D	MYH13_ENST00000252172.4_Silent_p.D4D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	4					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCATTTCTGCGTCAGAGCTCA	0.527																																						.											0													49.0	46.0	47.0					17																	10267836		1937	4152	6089	SO:0001819	synonymous_variant	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.12C>T	17.37:g.10267836G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	CCDS45613.1																																																																																				0.527	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	
NACA	4666	ucsc.edu;mdanderson.org	37	12	57114975	57114975	+	Silent	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:57114975T>C	ENST00000454682.1	-	3	620	c.339A>G	c.(337-339)ccA>ccG	p.P113P	NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Silent_p.P113P|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	113	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTAAGGCAGCTGGGGAGATGG	0.567			T	BCL6	NHL																																	.		Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													66.0	66.0	66.0					12																	57114975		1568	3582	5150	SO:0001819	synonymous_variant	4666			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.339A>G	12.37:g.57114975T>C		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000454682.1	37																																																																																					0.567	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594	
NT5C1B	93034	ucsc.edu;mdanderson.org	37	2	18745215	18745215	+	Silent	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:18745215G>A	ENST00000359846.2	-	10	1757	c.1680C>T	c.(1678-1680)gaC>gaT	p.D560D	NT5C1B_ENST00000304081.4_Silent_p.D500D|NT5C1B-RDH14_ENST00000532967.1_Silent_p.D560D|NT5C1B_ENST00000600945.1_Silent_p.D560D	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	560					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				AAAGAGCTTCGTCTATCTCTA	0.537																																						.											0													83.0	83.0	83.0					2																	18745215		2203	4300	6503	SO:0001819	synonymous_variant	93034			AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1680C>T	2.37:g.18745215G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP	ENST00000359846.2	37	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278623	0.23307	.	.	ENSG00000185013	ENST00000418427	.	.	.	6.16	-2.76	0.05896	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-32.4387	13.609	0.62065	0.6484:0.0:0.3516:0.0	.	.	.	.	X	215	.	.	R	-	1	2	NT5C1B	18608696	0.853000	0.29707	0.986000	0.45419	0.998000	0.95712	-0.017000	0.12590	-0.319000	0.08652	0.650000	0.86243	CGA		0.537	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1		
PJA2	9867	ucsc.edu;mdanderson.org	37	5	108714549	108714549	+	Silent	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:108714549A>G	ENST00000361189.2	-	4	878	c.639T>C	c.(637-639)acT>acC	p.T213T	PJA2_ENST00000511624.1_5'Flank|PJA2_ENST00000361557.3_Silent_p.T213T	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	213					long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		GTGAAAGACCAGTGTATGCCT	0.408																																						.											0													143.0	129.0	134.0					5																	108714549		2202	4300	6502	SO:0001819	synonymous_variant	9867			AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"""RING-type (C3HC4) zinc fingers"""	17481	protein-coding gene	gene with protein product			"""ring finger protein 131"", ""praja ring finger 2"""	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.639T>C	5.37:g.108714549A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Silent	SNP	ENST00000361189.2	37	CCDS4099.1																																																																																				0.408	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819	
POR	5447	ucsc.edu;mdanderson.org;bcgsc.ca	37	7	75608803	75608803	+	Missense_Mutation	SNP	C	C	T	rs562750402		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:75608803C>T	ENST00000461988.1	+	4	377	c.272C>T	c.(271-273)aCg>aTg	p.T91M	POR_ENST00000450476.1_5'Flank|POR_ENST00000475509.1_3'UTR|POR_ENST00000545601.1_5'Flank|POR_ENST00000419840.1_5'UTR|POR_ENST00000439269.1_5'Flank|POR_ENST00000394893.1_Missense_Mutation_p.T91M	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	88	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	GGCTCCCAGACGGGGACTGCA	0.617																																						.											0													42.0	51.0	48.0					7																	75608803		2093	4208	6301	SO:0001583	missense	5447			AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000461988.1:c.272C>T	7.37:g.75608803C>T	ENSP00000419970:p.Thr91Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Missense_Mutation	SNP	ENST00000461988.1	37	CCDS5579.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616300	0.87359	.	.	ENSG00000127948	ENST00000453773;ENST00000439963;ENST00000461988;ENST00000394893;ENST00000412521;ENST00000414186;ENST00000432753;ENST00000426184	T;T;T;T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4	3.78	3.78	0.43462	.	0.000000	0.85682	D	0.000000	D	0.91513	0.7320	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93741	0.7050	10	0.87932	D	0	-35.3056	15.1594	0.72771	0.0:1.0:0.0:0.0	.	97	Q59ED7	.	M	91;91;91;91;91;91;91;44	ENSP00000395813:T91M;ENSP00000390540:T91M;ENSP00000419970:T91M;ENSP00000378355:T91M;ENSP00000409238:T91M;ENSP00000399327:T91M;ENSP00000389409:T91M;ENSP00000400964:T44M	ENSP00000378355:T91M	T	+	2	0	POR	75446739	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.209000	0.77916	2.118000	0.64928	0.655000	0.94253	ACG		0.617	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941	
RAB3GAP1	22930	ucsc.edu	37	2	135920123	135920123	+	Splice_Site	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:135920123A>G	ENST00000264158.8	+	20	2332		c.e20-1		RAB3GAP1_ENST00000539493.1_Splice_Site|RAB3GAP1_ENST00000487003.1_Splice_Site|ZRANB3_ENST00000412849.1_5'UTR|RAB3GAP1_ENST00000442034.1_Splice_Site	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)						brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		CACCTCCTTCAGGTGCTGCAC	0.488																																						.											0													42.0	40.0	41.0					2																	135920123		2203	4300	6503	SO:0001630	splice_region_variant	22930			D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2290-1A>G	2.37:g.135920123A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A6H8Z3|C9J837|Q659F5|Q8TBB4	Splice_Site	SNP	ENST00000264158.8	37	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.333142	0.81801	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAB3GAP1	135636593	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	8.574000	0.90763	2.324000	0.78689	0.533000	0.62120	.		0.488	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233	Intron
RASAL1	8437	ucsc.edu	37	12	113554915	113554915	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:113554915G>A	ENST00000261729.5	-	9	1009	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C	RASAL1_ENST00000446861.3_Missense_Mutation_p.R232C|RASAL1_ENST00000546530.1_Missense_Mutation_p.R232C|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.R232C			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	232					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GGCAGGAGGCGGAACCAGCCT	0.627																																						.											0													53.0	50.0	51.0					12																	113554915		2203	4300	6503	SO:0001583	missense	8437			AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.694C>T	12.37:g.113554915G>A	ENSP00000261729:p.Arg232Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839684	0.91117	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	5.58	5.58	0.84498	C2 calcium/lipid-binding domain, CaLB (1);	0.055459	0.64402	D	0.000001	D	0.87951	0.6307	L	0.56769	1.78	0.54753	D	0.999989	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.79784	0.977;0.977;0.99;0.977;0.969;0.993;0.99	D	0.86489	0.1796	10	0.39692	T	0.17	.	18.3457	0.90321	0.0:0.0:1.0:0.0	.	232;232;232;244;232;232;232	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	C	232	ENSP00000450244:R232C;ENSP00000261729:R232C;ENSP00000395920:R232C;ENSP00000448510:R232C	ENSP00000261729:R232C	R	-	1	0	RASAL1	112039298	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.605000	0.54088	2.611000	0.88343	0.655000	0.94253	CGC		0.627	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658	
RNF10	9921	ucsc.edu;mdanderson.org;bcgsc.ca	37	12	121000814	121000814	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:121000814C>A	ENST00000325954.4	+	8	1656	c.1195C>A	c.(1195-1197)Ctg>Atg	p.L399M	RNF10_ENST00000413266.2_Missense_Mutation_p.L399M	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	399					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGTGGCTGCTCTGGAACAACT	0.537																																						.											0													142.0	128.0	132.0					12																	121000814		2203	4300	6503	SO:0001583	missense	9921			AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.1195C>A	12.37:g.121000814C>A	ENSP00000322242:p.Leu399Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	C	9.302	1.053360	0.19907	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266	D;D	0.89875	-2.56;-2.58	5.5	2.57	0.30868	.	0.472617	0.21042	N	0.081155	T	0.79661	0.4484	N	0.25647	0.755	0.30643	N	0.756245	B;B	0.19817	0.039;0.011	B;B	0.19391	0.025;0.007	T	0.70464	-0.4864	10	0.32370	T	0.25	.	7.635	0.28261	0.0:0.6905:0.1449:0.1646	.	399;399	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	M	399	ENSP00000322242:L399M;ENSP00000415682:L399M	ENSP00000322242:L399M	L	+	1	2	RNF10	119485197	0.989000	0.36119	1.000000	0.80357	0.683000	0.39861	0.072000	0.14617	0.453000	0.26858	-0.797000	0.03246	CTG		0.537	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4		
SCARB1	949	ucsc.edu	37	12	125263104	125263104	+	3'UTR	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:125263104C>T	ENST00000415380.2	-	0	1805				SCARB1_ENST00000546215.1_3'UTR|SCARB1_ENST00000339570.5_Missense_Mutation_p.G477D|SCARB1_ENST00000261693.6_3'UTR|SCARB1_ENST00000376788.1_3'UTR			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1						adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	AGCGGCCAGGCCTGGCTGGCT	0.706																																						.											0													4.0	7.0	6.0					12																	125263104		1754	3797	5551	SO:0001624	3_prime_UTR_variant	949			Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.*21G>A	12.37:g.125263104C>T		Somatic		WXS	Illumina HiSeq	Phase_I	F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	ENST00000415380.2	37		.	.	.	.	.	.	.	.	.	.	C	6.791	0.514930	0.12944	.	.	ENSG00000073060	ENST00000339570	T	0.59906	0.23	4.51	2.35	0.29111	.	.	.	.	.	T	0.29716	0.0742	N	0.08118	0	0.09310	N	0.999995	B	0.06786	0.001	B	0.04013	0.001	T	0.23154	-1.0196	9	0.09338	T	0.73	.	5.4703	0.16666	0.0:0.6756:0.0:0.3244	.	477	F8W8N0	.	D	477	ENSP00000343795:G477D	ENSP00000343795:G477D	G	-	2	0	SCARB1	123829057	0.000000	0.05858	0.000000	0.03702	0.208000	0.24298	-0.053000	0.11846	0.182000	0.20032	0.555000	0.69702	GGC		0.706	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505	
SCGB3A1	92304	ucsc.edu;bcgsc.ca	37	5	180017682	180017682	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:180017682T>C	ENST00000292641.3	-	2	286	c.209A>G	c.(208-210)cAc>cGc	p.H70R		NM_052863.2	NP_443095.2	Q96QR1	SG3A1_HUMAN	secretoglobin, family 3A, member 1	70					negative regulation of cell growth (GO:0030308)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			large_intestine(1)|lung(2)	3	all_cancers(89;7.5e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00658)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCTATGAGGTGGTTCACGGG	0.706																																						.											0													17.0	22.0	20.0					5																	180017682		2179	4277	6456	SO:0001583	missense	92304			AF313458	CCDS4456.1	5q35.3	2013-09-19			ENSG00000161055	ENSG00000161055		"""Secretoglobins"""	18384	protein-coding gene	gene with protein product	"""cytokine high in normal-1"", ""pneumo secretory protein 2"""	606500				11682631, 11481438, 22155607	Standard	NM_052863		Approved	UGRP2, HIN-1, HIN1, LU105, PnSP-2	uc003mly.3	Q96QR1	OTTHUMG00000130936	ENST00000292641.3:c.209A>G	5.37:g.180017682T>C	ENSP00000292641:p.His70Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q96PL0	Missense_Mutation	SNP	ENST00000292641.3	37	CCDS4456.1	.	.	.	.	.	.	.	.	.	.	t	9.745	1.166025	0.21538	.	.	ENSG00000161055	ENST00000292641	T	0.00325	8.1	4.7	-1.99	0.07457	.	0.476299	0.19452	N	0.113902	T	0.00210	0.0006	M	0.68317	2.08	0.09310	N	1	B	0.14012	0.009	B	0.15484	0.013	T	0.43766	-0.9371	10	0.56958	D	0.05	-0.9826	5.1174	0.14843	0.0:0.4019:0.1821:0.416	.	70	Q96QR1	SG3A1_HUMAN	R	70	ENSP00000292641:H70R	ENSP00000292641:H70R	H	-	2	0	SCGB3A1	179950288	0.000000	0.05858	0.001000	0.08648	0.198000	0.23893	-0.249000	0.08842	-0.286000	0.09076	0.454000	0.30748	CAC		0.706	SCGB3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253533.2	NM_052863	
SEPT4	5414	ucsc.edu;bcgsc.ca	37	17	56599003	56599003	+	Missense_Mutation	SNP	C	C	T	rs533106066		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:56599003C>T	ENST00000317268.3	-	8	1096	c.920G>A	c.(919-921)cGg>cAg	p.R307Q	SEPT4_ENST00000457347.2_Missense_Mutation_p.R322Q|SEPT4_ENST00000579371.1_Missense_Mutation_p.R208Q|SEPT4_ENST00000412945.3_Missense_Mutation_p.R299Q|SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000580844.1_Missense_Mutation_p.R208Q|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000580809.1_3'UTR|SEPT4_ENST00000583114.1_Missense_Mutation_p.R160Q|SEPT4_ENST00000317256.6_Missense_Mutation_p.R288Q|SEPT4_ENST00000393086.1_Missense_Mutation_p.R288Q	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	307	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AATCTCCTCCCGGATCTGACA	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19676	0.0		0.0	False		,,,				2504	0.0					.											0													111.0	107.0	108.0					17																	56599003		2203	4300	6503	SO:0001583	missense	5414			AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"""Septins"""	9165	protein-coding gene	gene with protein product	"""bradeoin"", ""septin-M"""	603696	"""peanut-like 2 (Drosophila)"""	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.920G>A	17.37:g.56599003C>T	ENSP00000321674:p.Arg307Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	ENST00000317268.3	37	CCDS11610.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945750	0.34377	.	.	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.59	5.59	0.84812	.	0.061554	0.64402	D	0.000005	T	0.53351	0.1791	L	0.46567	1.45	0.54753	D	0.999987	P;D;P;P;P	0.89917	0.882;1.0;0.941;0.497;0.952	B;D;B;B;P	0.67382	0.212;0.951;0.358;0.118;0.49	T	0.52238	-0.8602	10	0.62326	D	0.03	.	17.0726	0.86578	0.0:1.0:0.0:0.0	.	299;322;288;160;307	O43236-3;O43236-4;O43236-2;O43236-5;O43236	.;.;.;.;SEPT4_HUMAN	Q	299;321;288;307;288	ENSP00000414779:R299Q;ENSP00000321071:R288Q;ENSP00000321674:R307Q;ENSP00000376801:R288Q	ENSP00000321071:R288Q	R	-	2	0	SEPT4	53954002	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.077000	0.71275	2.619000	0.88677	0.557000	0.71058	CGG		0.512	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417	
SLC39A7	7922	ucsc.edu;mdanderson.org	37	6	33169433	33169433	+	Splice_Site	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:33169433T>C	ENST00000374677.3	+	1	784	c.411T>C	c.(409-411)taT>taC	p.Y137Y	RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000544186.1_5'Flank|RNY4P10_ENST00000365571.1_RNA|HSD17B8_ENST00000374662.3_5'Flank|RXRB_ENST00000374680.3_5'Flank|SLC39A7_ENST00000374675.3_Splice_Site_p.Y137Y|RXRB_ENST00000374685.4_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	137					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TCTGGGCTTATGTGAGTCTCC	0.572																																						.											0													53.0	53.0	53.0					6																	33169433		2021	4191	6212	SO:0001630	splice_region_variant	7922			AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.411+1T>C	6.37:g.33169433T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B0UXF6|Q5STP8|Q9UIQ0	Silent	SNP	ENST00000374677.3	37	CCDS43453.1																																																																																				0.572	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979	Silent
SPAG4	6676	ucsc.edu	37	20	34207645	34207645	+	Missense_Mutation	SNP	G	G	A	rs376632243|rs532323841	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:34207645G>A	ENST00000374273.3	+	10	1166	c.1054G>A	c.(1054-1056)Gcc>Acc	p.A352T		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	352	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			AGCCAACAGCGCCCCCCGCGA	0.627																																						.											0													37.0	39.0	38.0					20																	34207645		2203	4300	6503	SO:0001583	missense	6676			AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"""acrosomal protein ACR55"", ""Sad1 and UNC84 domain containing 4"", ""cancer/testis antigen 127"""	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.1054G>A	20.37:g.34207645G>A	ENSP00000363391:p.Ala352Thr	Somatic		WXS	Illumina HiSeq	Phase_I	O43648	Missense_Mutation	SNP	ENST00000374273.3	37	CCDS13259.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.411031	0.62399	.	.	ENSG00000061656	ENST00000374273;ENST00000430878	T;T	0.52754	0.65;0.65	4.66	3.72	0.42706	Sad1/UNC-like, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.50274	0.1606	M	0.88241	2.94	0.46396	D	0.999025	P	0.52692	0.955	B	0.38327	0.271	T	0.62412	-0.6860	10	0.87932	D	0	-0.0314	10.1876	0.43006	0.0:0.0:0.8012:0.1988	.	352	Q9NPE6	SPAG4_HUMAN	T	352;47	ENSP00000363391:A352T;ENSP00000399231:A47T	ENSP00000363391:A352T	A	+	1	0	SPAG4	33671059	1.000000	0.71417	0.993000	0.49108	0.957000	0.61999	3.537000	0.53590	1.186000	0.42985	-0.218000	0.12543	GCC		0.627	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1	NM_003116	
STAT1	6772	ucsc.edu;bcgsc.ca	37	2	191848415	191848415	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:191848415C>T	ENST00000361099.3	-	17	1786	c.1399G>A	c.(1399-1401)Ggt>Agt	p.G467S	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.G467S|STAT1_ENST00000392323.2_Missense_Mutation_p.G469S|STAT1_ENST00000392322.3_Missense_Mutation_p.G467S	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	467					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			GAGGCCCAACCGCTCGGGAGC	0.527																																						.											0													114.0	108.0	110.0					2																	191848415		2203	4300	6503	SO:0001583	missense	6772				CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1399G>A	2.37:g.191848415C>T	ENSP00000354394:p.Gly467Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763457	0.89932	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	5.19	5.19	0.71726	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.044894	0.85682	D	0.000000	D	0.84352	0.5453	L	0.46614	1.455	0.80722	D	1	D;P	0.71674	0.998;0.581	D;B	0.66351	0.943;0.227	D	0.83613	0.0135	10	0.48119	T	0.1	-22.6387	19.2755	0.94030	0.0:1.0:0.0:0.0	.	467;467	P42224-2;P42224	.;STAT1_HUMAN	S	467;467;467;469	ENSP00000354394:G467S;ENSP00000386244:G467S;ENSP00000376136:G467S;ENSP00000376137:G469S	ENSP00000354394:G467S	G	-	1	0	STAT1	191556660	1.000000	0.71417	0.244000	0.24202	0.510000	0.34073	7.609000	0.82925	2.865000	0.98341	0.655000	0.94253	GGT		0.527	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315	
SUPT3H	8464	ucsc.edu;mdanderson.org;bcgsc.ca	37	6	45290634	45290634	+	Missense_Mutation	SNP	G	G	A	rs9472463	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:45290634G>A	ENST00000371460.1	-	3	337	c.20C>T	c.(19-21)aCg>aTg	p.T7M	SUPT3H_ENST00000371459.1_Intron|SUPT3H_ENST00000371461.2_Missense_Mutation_p.T7M|SUPT3H_ENST00000306867.5_Intron|SUPT3H_ENST00000459689.1_Intron	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	0					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						GTTGAAGAACGTTGTTCCAAA	0.413													G|||	23	0.00459265	0.0008	0.0029	5008	,	,		16239	0.0		0.0179	False		,,,				2504	0.002					.											0								G	,MET/THR	16,4390	24.3+/-50.5	0,16,2187	108.0	95.0	99.0		,20	4.3	1.0	6	dbSNP_119	99	133,8467	67.0+/-129.4	1,131,4168	yes	intron,missense	SUPT3H	NM_003599.2,NM_181356.1	,81	1,147,6355	AA,AG,GG		1.5465,0.3631,1.1456	,	,7/329	45290634	149,12857	2203	4300	6503	SO:0001583	missense	8464			AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"""suppressor of Ty (S.cerevisiae) 3 homolog"""			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371460.1:c.20C>T	6.37:g.45290634G>A	ENSP00000360515:p.Thr7Met	Somatic		WXS	Illumina HiSeq	Phase_I	A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Missense_Mutation	SNP	ENST00000371460.1	37	CCDS34466.1	17	0.007783882783882784	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	14	0.018469656992084433	G	14.57	2.574496	0.45902	0.003631	0.015465	ENSG00000196284	ENST00000371460;ENST00000371461	T;T	0.48836	0.8;0.8	5.23	4.34	0.51931	.	1.633690	0.03317	N	0.191370	T	0.22044	0.0531	.	.	.	0.27760	N	0.94385	B	0.12013	0.005	B	0.14023	0.01	T	0.18398	-1.0338	9	0.87932	D	0	.	8.3299	0.32180	0.08:0.0:0.7657:0.1543	rs9472463;rs52806481;rs56415076;rs9472463	7	O75486-3	.	M	7	ENSP00000360515:T7M;ENSP00000360516:T7M	ENSP00000360515:T7M	T	-	2	0	SUPT3H	45398612	1.000000	0.71417	0.972000	0.41901	0.993000	0.82548	2.849000	0.48286	1.293000	0.44690	0.557000	0.71058	ACG		0.413	SUPT3H-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106910.3	NM_181356	
TOR3A	64222	ucsc.edu;mdanderson.org	37	1	179057117	179057117	+	Silent	SNP	G	G	A	rs12092348	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:179057117G>A	ENST00000367627.3	+	4	1463	c.711G>A	c.(709-711)gcG>gcA	p.A237A	TOR3A_ENST00000495145.1_3'UTR|TOR3A_ENST00000352445.6_Silent_p.A237A	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	237					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TCGATGAAGCGGAGAAGCTGC	0.612													G|||	79	0.0157748	0.0552	0.0058	5008	,	,		16403	0.002		0.0	False		,,,				2504	0.0					.											0								G		229,4177	137.3+/-173.1	6,217,1980	68.0	74.0	72.0		711	-10.7	0.0	1	dbSNP_120	72	0,8600		0,0,4300	no	coding-synonymous	TOR3A	NM_022371.3		6,217,6280	AA,AG,GG		0.0,5.1975,1.7607		237/398	179057117	229,12777	2203	4300	6503	SO:0001819	synonymous_variant	64222			BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"""ATP-dependant interferon responsive"""	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.711G>A	1.37:g.179057117G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Silent	SNP	ENST00000367627.3	37	CCDS1329.1																																																																																				0.612	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371	
TPSD1	23430	ucsc.edu;mdanderson.org	37	16	1306954	1306954	+	Silent	SNP	C	C	G	rs61729110	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:1306954C>G	ENST00000211076.3	+	3	559	c.411C>G	c.(409-411)ccC>ccG	p.P137P	TPSD1_ENST00000397534.2_Silent_p.P130P|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	137	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				TGGAGGAGCCCGTGAACATCT	0.667													c|||	60	0.0119808	0.0454	0.0	5008	,	,		18890	0.0		0.0	False		,,,				2504	0.0					.											0								C		166,4232	100.7+/-139.4	2,162,2035	58.0	58.0	58.0		411	-1.9	0.1	16	dbSNP_129	58	1,8595		0,1,4297	no	coding-synonymous	TPSD1	NM_012217.2		2,163,6332	GG,GC,CC		0.0116,3.7744,1.2852		137/243	1306954	167,12827	2199	4298	6497	SO:0001819	synonymous_variant	23430			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.411C>G	16.37:g.1306954C>G		Somatic		WXS	Illumina HiSeq	Phase_I	O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Silent	SNP	ENST00000211076.3	37	CCDS10432.1																																																																																				0.667	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2		
TPSD1	23430	ucsc.edu;bcgsc.ca	37	16	1306961	1306961	+	Missense_Mutation	SNP	A	A	G	rs139077060		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:1306961A>G	ENST00000211076.3	+	3	566	c.418A>G	c.(418-420)Atc>Gtc	p.I140V	TPSD1_ENST00000397534.2_Missense_Mutation_p.I133V|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	140	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GCCCGTGAACATCTCCAGCCA	0.652																																						.											0								A	VAL/ILE	1,4397		0,1,2198	52.0	51.0	51.0		418	-1.8	0.1	16	dbSNP_134	51	0,8596		0,0,4298	no	missense	TPSD1	NM_012217.2	29	0,1,6496	GG,GA,AA		0.0,0.0227,0.0077	benign	140/243	1306961	1,12993	2199	4298	6497	SO:0001583	missense	23430			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.418A>G	16.37:g.1306961A>G	ENSP00000211076:p.Ile140Val	Somatic		WXS	Illumina HiSeq	Phase_I	O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	ENST00000211076.3	37	CCDS10432.1	.	.	.	.	.	.	.	.	.	.	a	0.001	-3.254975	0.00022	2.27E-4	0.0	ENSG00000095917	ENST00000397534;ENST00000211076	D;D	0.81499	-1.5;-1.5	2.55	-1.82	0.07857	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.511430	0.04283	N	0.344227	T	0.62441	0.2428	N	0.17674	0.51	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.11329	0.001;0.006	T	0.41822	-0.9487	10	0.15499	T	0.54	.	2.4188	0.04443	0.3756:0.0:0.2912:0.3332	.	124;140	C9JJL5;Q9BZJ3	.;TRYD_HUMAN	V	133;140	ENSP00000380668:I133V;ENSP00000211076:I140V	ENSP00000211076:I140V	I	+	1	0	TPSD1	1246962	0.000000	0.05858	0.056000	0.19401	0.068000	0.16541	-2.552000	0.00927	-0.143000	0.11334	-1.425000	0.01104	ATC		0.652	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2		
TPSD1	23430	ucsc.edu;mdanderson.org;bcgsc.ca	37	16	1306973	1306973	+	Missense_Mutation	SNP	A	A	G	rs79313952		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:1306973A>G	ENST00000211076.3	+	3	578	c.430A>G	c.(430-432)Atc>Gtc	p.I144V	TPSD1_ENST00000397534.2_Missense_Mutation_p.I137V|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	144	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				CTCCAGCCACATCCACACGGT	0.642																																						.											0													49.0	47.0	47.0					16																	1306973		2198	4299	6497	SO:0001583	missense	23430			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.430A>G	16.37:g.1306973A>G	ENSP00000211076:p.Ile144Val	Somatic		WXS	Illumina HiSeq	Phase_I	O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	ENST00000211076.3	37	CCDS10432.1	761	0.3484432234432234	140	0.2845528455284553	110	0.30386740331491713	250	0.4370629370629371	261	0.34432717678100266	a	0.001	-2.882799	0.00061	.	.	ENSG00000095917	ENST00000397534;ENST00000211076	D;D	0.85702	-2.02;-2.02	2.55	-5.1	0.02911	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.756136	0.11242	N	0.584558	T	0.00012	0.0000	N	0.04043	-0.29	0.80722	P	0.0	B;B	0.06786	0.0;0.001	B;B	0.13407	0.009;0.009	T	0.23404	-1.0189	9	0.02654	T	1	.	0.0994	0.00046	0.3174:0.1569:0.211:0.3148	.	128;144	C9JJL5;Q9BZJ3	.;TRYD_HUMAN	V	137;144	ENSP00000380668:I137V;ENSP00000211076:I144V	ENSP00000211076:I144V	I	+	1	0	TPSD1	1246974	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-1.101000	0.03336	-1.132000	0.02907	-1.639000	0.00775	ATC		0.642	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2		
TRIM34	53840	ucsc.edu	37	11	5655127	5655127	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:5655127A>G	ENST00000514226.1	+	3	854	c.517A>G	c.(517-519)Aag>Gag	p.K173E	TRIM34_ENST00000429814.2_Missense_Mutation_p.K173E|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.K173E|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.K527E	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	173					positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACTTCCTGGAAGGCAAGAGG	0.473																																						.											0													63.0	65.0	64.0					11																	5655127		2201	4297	6498	SO:0001583	missense	53840			AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10063	protein-coding gene	gene with protein product		605684	"""tripartite motif-containing 34"""	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.517A>G	11.37:g.5655127A>G	ENSP00000422947:p.Lys173Glu	Somatic		WXS	Illumina HiSeq	Phase_I	D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	37	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.394975	0.42512	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;T	0.27890	3.56;3.56;3.56;1.64	3.78	2.61	0.31194	.	0.000000	0.33610	N	0.004729	T	0.32971	0.0847	M	0.71871	2.18	0.20196	N	0.999922	P;P;B	0.39376	0.67;0.646;0.025	B;B;B	0.42319	0.351;0.383;0.023	T	0.15093	-1.0449	10	0.46703	T	0.11	.	7.0658	0.25151	0.7678:0.2322:0.0:0.0	.	173;173;527	Q9BYJ4-2;Q9BYJ4;B2RNG4	.;TRI34_HUMAN;.	E	527;173;173;173;527	ENSP00000422947:K173E;ENSP00000402595:K173E;ENSP00000395982:K173E;ENSP00000346916:K527E	ENSP00000402595:K173E	K	+	1	0	TRIM34;TRIM6-TRIM34	5611703	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.381000	0.34362	0.772000	0.33382	0.533000	0.62120	AAG		0.473	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827	
TYK2	7297	ucsc.edu;mdanderson.org;bcgsc.ca	37	19	10477123	10477123	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:10477123A>G	ENST00000525621.1	-	6	1080	c.599T>C	c.(598-600)aTc>aCc	p.I200T	TYK2_ENST00000529370.1_Missense_Mutation_p.I200T|TYK2_ENST00000524462.1_Missense_Mutation_p.I15T|TYK2_ENST00000264818.6_Missense_Mutation_p.I200T	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	200	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CTCCAGGGGGATGCCATGGCG	0.607																																						.											0													94.0	86.0	89.0					19																	10477123		2203	4300	6503	SO:0001583	missense	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.599T>C	19.37:g.10477123A>G	ENSP00000431885:p.Ile200Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	A	8.411	0.844139	0.16963	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000529370	T;T;T;T	0.75154	-0.91;0.95;0.95;0.95	5.15	5.15	0.70609	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	0.510102	0.15582	N	0.254823	T	0.61664	0.2365	L	0.34521	1.04	0.23260	N	0.99802	B;B	0.31769	0.339;0.061	B;B	0.24701	0.055;0.044	T	0.50224	-0.8853	10	0.21540	T	0.41	-38.9989	12.9524	0.58409	1.0:0.0:0.0:0.0	.	200;200	E9PPF2;P29597	.;TYK2_HUMAN	T	15;200;200;200	ENSP00000433203:I15T;ENSP00000431885:I200T;ENSP00000264818:I200T;ENSP00000432728:I200T	ENSP00000264818:I200T	I	-	2	0	TYK2	10338123	0.002000	0.14202	0.933000	0.37362	0.262000	0.26303	1.690000	0.37711	1.943000	0.56356	0.460000	0.39030	ATC		0.607	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1		
UVSSA	57654	ucsc.edu	37	4	1377724	1377724	+	Missense_Mutation	SNP	G	G	A	rs139310992	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:1377724G>A	ENST00000389851.4	+	13	2479	c.2032G>A	c.(2032-2034)Gcc>Acc	p.A678T	UVSSA_ENST00000511216.1_Missense_Mutation_p.A678T|UVSSA_ENST00000512728.1_Missense_Mutation_p.A229T|UVSSA_ENST00000507531.1_Missense_Mutation_p.A678T|UVSSA_ENST00000511563.1_Missense_Mutation_p.A229T	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	678					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										AAAAGTCTTCGCCAAGTAAGA	0.627													G|||	4	0.000798722	0.0023	0.0014	5008	,	,		16905	0.0		0.0	False		,,,				2504	0.0					.											0								G	THR/ALA	17,4385	24.3+/-50.5	1,15,2185	53.0	50.0	51.0		2032	2.2	1.0	4	dbSNP_134	51	0,8600		0,0,4300	yes	missense	KIAA1530	NM_020894.2	58	1,15,6485	AA,AG,GG		0.0,0.3862,0.1307	possibly-damaging	678/710	1377724	17,12985	2201	4300	6501	SO:0001583	missense	57654			BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.2032G>A	4.37:g.1377724G>A	ENSP00000374501:p.Ala678Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	CCDS33938.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	12.25	1.881607	0.33255	0.003862	0.0	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531;ENST00000511563;ENST00000512728	T;T;T;T;T	0.44083	1.53;1.53;1.53;0.93;0.93	4.99	2.15	0.27550	.	0.336647	0.31821	N	0.007019	T	0.27967	0.0689	L	0.60455	1.87	0.26539	N	0.974118	P	0.44946	0.846	B	0.34242	0.178	T	0.17349	-1.0372	10	0.30078	T	0.28	.	4.1502	0.10234	0.2149:0.4065:0.3786:0.0	.	678	Q2YD98	K1530_HUMAN	T	678;678;678;229;229	ENSP00000425130:A678T;ENSP00000374501:A678T;ENSP00000421741:A678T;ENSP00000423340:A229T;ENSP00000427701:A229T	ENSP00000374501:A678T	A	+	1	0	KIAA1530	1367724	1.000000	0.71417	0.988000	0.46212	0.389000	0.30415	3.855000	0.55957	0.566000	0.29273	0.505000	0.49811	GCC		0.627	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894	
ZBTB49	166793	ucsc.edu;mdanderson.org	37	4	4322722	4322722	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:4322722C>T	ENST00000337872.4	+	8	2098	c.1977C>T	c.(1975-1977)atC>atT	p.I659I	ZBTB49_ENST00000538529.1_Silent_p.I142I|ZBTB49_ENST00000355834.3_Silent_p.I537I|RP11-265O12.1_ENST00000509015.1_lincRNA	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	659					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						GGTCCATGATCCAACCTCATG	0.507																																						.											0													44.0	43.0	43.0					4																	4322722		2203	4300	6503	SO:0001819	synonymous_variant	166793			AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1977C>T	4.37:g.4322722C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q59FJ4|Q5EBN0|Q8TB80	Silent	SNP	ENST00000337872.4	37	CCDS3375.1																																																																																				0.507	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291	
ZNF653	115950	ucsc.edu;mdanderson.org;bcgsc.ca	37	19	11598527	11598527	+	Missense_Mutation	SNP	C	C	T	rs140179197	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:11598527C>T	ENST00000293771.5	-	4	887	c.751G>A	c.(751-753)Gtg>Atg	p.V251M	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	251					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						AGGCTTTCCACGTGGTGGACG	0.687													C|||	9	0.00179712	0.0008	0.0014	5008	,	,		12948	0.0		0.005	False		,,,				2504	0.002				Pancreas(83;980 1446 4542 6441 43352)	.											0								C	MET/VAL	17,4389	21.2+/-45.6	0,17,2186	52.0	49.0	50.0		751	3.2	1.0	19	dbSNP_134	50	46,8554	28.5+/-78.6	0,46,4254	yes	missense	ZNF653	NM_138783.3	21	0,63,6440	TT,TC,CC		0.5349,0.3858,0.4844	benign	251/616	11598527	63,12943	2203	4300	6503	SO:0001583	missense	115950			AY072704	CCDS12261.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"""	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.751G>A	19.37:g.11598527C>T	ENSP00000293771:p.Val251Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q96AS7	Missense_Mutation	SNP	ENST00000293771.5	37	CCDS12261.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	9.411	1.080482	0.20309	0.003858	0.005349	ENSG00000161914	ENST00000293771	T	0.11169	2.8	4.49	3.2	0.36748	.	0.848002	0.10512	N	0.665997	T	0.03220	0.0094	N	0.03608	-0.345	0.32087	N	0.592312	B	0.22211	0.066	B	0.12156	0.007	T	0.07009	-1.0795	10	0.56958	D	0.05	-30.1147	6.9266	0.24418	0.0:0.7833:0.0:0.2167	.	251	Q96CK0	ZN653_HUMAN	M	251	ENSP00000293771:V251M	ENSP00000293771:V251M	V	-	1	0	ZNF653	11459527	0.988000	0.35896	0.998000	0.56505	0.571000	0.35966	0.664000	0.25068	2.210000	0.71456	0.561000	0.74099	GTG		0.687	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	NM_138783	
ACAP3	116983	mdanderson.org	37	1	1229953	1229953	+	Silent	SNP	C	C	T	rs574689077		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:1229953C>T	ENST00000354700.5	-	21	2170	c.1968G>A	c.(1966-1968)gaG>gaA	p.E656E	ACAP3_ENST00000353662.3_Silent_p.E581E|ACAP3_ENST00000379037.2_5'Flank	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	656					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GGCCCCAGGCCTCGGCCTCAG	0.761													C|||	1	0.000199681	0.0	0.0014	5008	,	,		10451	0.0		0.0	False		,,,				2504	0.0					.											0																																										SO:0001819	synonymous_variant	116983			AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16754	protein-coding gene	gene with protein product			"""centaurin, beta 5"""	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.1968G>A	1.37:g.1229953C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Silent	SNP	ENST00000354700.5	37	CCDS19.2																																																																																				0.761	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2	NM_030649	
AGAP6	414189	mdanderson.org	37	10	51748684	51748684	+	Missense_Mutation	SNP	G	G	A	rs61848260	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:51748684G>A	ENST00000374056.4	+	1	607	c.209G>A	c.(208-210)cGg>cAg	p.R70Q	AGAP6_ENST00000412531.3_Missense_Mutation_p.R70Q			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	70				R -> Q (in Ref. 2; BC131545). {ECO:0000305}.	regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						GTTCGTGACCGGGAGATGCCT	0.592													G|||	2505	0.5002	0.6067	0.5519	5008	,	,		18957	0.3899		0.4463	False		,,,				2504	0.4888					.											0																																										SO:0001583	missense	414189				CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.209G>A	10.37:g.51748684G>A	ENSP00000363168:p.Arg70Gln	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000374056.4	37		.	.	.	.	.	.	.	.	.	.	G	4.840	0.156245	0.09236	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	D;D	0.89196	-2.48;-2.48	1.2	1.2	0.21068	.	0.119796	0.56097	D	0.000023	T	0.76593	0.4009	N	0.20574	0.59	0.54753	P	1.799999999996249E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.71314	-0.4630	9	0.40728	T	0.16	.	5.7611	0.18201	0.0:0.0:1.0:0.0	rs61848260	70	C9IYN2	.	Q	70	ENSP00000363168:R70Q;ENSP00000400972:R70Q	ENSP00000363168:R70Q	R	+	2	0	AGAP6	51418690	0.995000	0.38212	0.964000	0.40570	0.005000	0.04900	0.588000	0.23924	0.963000	0.38082	0.187000	0.17357	CGG		0.592	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665	
AK2	204	mdanderson.org	37	1	33478959	33478959	+	Missense_Mutation	SNP	C	C	G	rs72884305		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:33478959C>G	ENST00000373449.2	-	6	584	c.543G>C	c.(541-543)aaG>aaC	p.K181N	RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000491241.1_5'Flank|AK2_ENST00000354858.6_Missense_Mutation_p.K181N|AK2_ENST00000467905.1_Missense_Mutation_p.K181N|AK2_ENST00000548033.1_Missense_Mutation_p.K139N|AK2_ENST00000480134.1_3'UTR	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1			adenylate kinase 2											kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TTTTCAAGGCCTTTTCATTAT	0.498																																						.											0													90.0	84.0	86.0					1																	33478959		2203	4300	6503	SO:0001583	missense	204			U84371	CCDS373.1, CCDS374.1	1p35.1	2014-09-17			ENSG00000004455	ENSG00000004455	2.7.4.3	"""Adenylate kinases"""	362	protein-coding gene	gene with protein product		103020				8843353, 6961883	Standard	NM_013411		Approved		uc001bwp.2	P54819	OTTHUMG00000004131	ENST00000373449.2:c.543G>C	1.37:g.33478959C>G	ENSP00000362548:p.Lys181Asn	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000373449.2	37	CCDS373.1	579	0.2651098901098901	166	0.33739837398373984	101	0.27900552486187846	109	0.19055944055944055	203	0.2678100263852243	C	13.25	2.182376	0.38511	.	.	ENSG00000004455	ENST00000373449;ENST00000548033;ENST00000467905;ENST00000354858	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.17	1.5	0.22942	.	0.199168	0.50627	D	0.000117	T	0.00012	0.0000	N	0.03071	-0.42	0.80722	D	1	B;B;B;B	0.27416	0.026;0.178;0.108;0.026	B;B;B;B	0.25506	0.022;0.045;0.061;0.022	T	0.34875	-0.9811	10	0.87932	D	0	-26.0335	6.3424	0.21330	0.0:0.4499:0.1246:0.4255	.	173;139;181;181	P54819-5;F8VY04;P54819;P54819-2	.;.;KAD2_HUMAN;.	N	181;139;181;181	ENSP00000362548:K181N;ENSP00000449003:K139N;ENSP00000447082:K181N;ENSP00000346921:K181N	ENSP00000346921:K181N	K	-	3	2	AK2	33251546	0.171000	0.23029	1.000000	0.80357	0.989000	0.77384	-0.404000	0.07205	0.148000	0.19059	0.563000	0.77884	AAG		0.498	AK2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011884.1	NM_001625	
ALDH1L2	160428	mdanderson.org	37	12	105464485	105464485	+	Silent	SNP	G	G	A	rs74449999	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:105464485G>A	ENST00000258494.9	-	3	431	c.291C>T	c.(289-291)tcC>tcT	p.S97S	RP11-61E11.1_ENST00000547750.1_RNA|ALDH1L2_ENST00000424857.2_Silent_p.S97S	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	97	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CTGCACCCACGGATCTGTAGG	0.483													G|||	59	0.0117812	0.003	0.0144	5008	,	,		17150	0.001		0.0408	False		,,,				2504	0.0031					.											0								G		39,4367	44.6+/-78.6	0,39,2164	184.0	148.0	160.0		291	-10.5	0.2	12	dbSNP_132	160	322,8278	114.0+/-174.0	8,306,3986	no	coding-synonymous	ALDH1L2	NM_001034173.3		8,345,6150	AA,AG,GG		3.7442,0.8852,2.7756		97/924	105464485	361,12645	2203	4300	6503	SO:0001819	synonymous_variant	160428			AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.291C>T	12.37:g.105464485G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q3SY68|Q68D62|Q6AI55|Q8N922	Silent	SNP	ENST00000258494.9	37	CCDS31891.1																																																																																				0.483	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294	
ALG1	56052	mdanderson.org	37	16	5129069	5129069	+	Silent	SNP	C	C	T	rs144029725	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:5129069C>T	ENST00000262374.5	+	8	898	c.867C>T	c.(865-867)gaC>gaT	p.D289D	ALG1_ENST00000588623.1_Silent_p.D178D|ALG1_ENST00000544428.1_Silent_p.D178D	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	289					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				TCATAGAGGACGAAGACTTCT	0.567													C|||	11	0.00219649	0.0076	0.0014	5008	,	,		18008	0.0		0.0	False		,,,				2504	0.0					.											0								C		21,2761		0,21,1370	13.0	14.0	13.0		867	0.7	1.0	16	dbSNP_134	13	0,4778		0,0,2389	no	coding-synonymous	ALG1	NM_019109.4		0,21,3759	TT,TC,CC		0.0,0.7549,0.2778		289/465	5129069	21,7539	1391	2389	3780	SO:0001819	synonymous_variant	56052			AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"""Glycosyltransferase group 1 domain containing"""	18294	protein-coding gene	gene with protein product		605907	"""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)"", ""asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"""			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.867C>T	16.37:g.5129069C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Silent	SNP	ENST00000262374.5	37	CCDS10528.1																																																																																				0.567	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251716.2	NM_019109	
ANKRD30BL	554226	mdanderson.org	37	2	132919171	132919171	+	Silent	SNP	A	A	G	rs199695856		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:132919171A>G	ENST00000409867.1	-	1	357	c.108T>C	c.(106-108)caT>caC	p.H36H	ANKRD30BL_ENST00000470729.1_Intron			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	36										endometrium(1)|kidney(3)	4						TGAGATCCCCATGGTGAATCA	0.582																																						.											0																																										SO:0001819	synonymous_variant	554226					2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.108T>C	2.37:g.132919171A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B8ZZL7	RNA	SNP	ENST00000409867.1	37																																																																																					0.582	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331353.2	NR_027019	
ANKRD30BL	554226	mdanderson.org	37	2	132919192	132919192	+	Silent	SNP	G	G	A	rs111295191		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:132919192G>A	ENST00000409867.1	-	1	336	c.87C>T	c.(85-87)aaC>aaT	p.N29N	ANKRD30BL_ENST00000470729.1_Intron			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	29										endometrium(1)|kidney(3)	4						CGTAAGAGTCGTTGTTGGTGT	0.602																																						.											0																																										SO:0001819	synonymous_variant	554226					2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.87C>T	2.37:g.132919192G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B8ZZL7	RNA	SNP	ENST00000409867.1	37																																																																																					0.602	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331353.2	NR_027019	
BCORL1	63035	mdanderson.org;bcgsc.ca	37	X	129190044	129190044	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:129190044T>C	ENST00000218147.7	+	13	5266	c.5069T>C	c.(5068-5070)gTg>gCg	p.V1690A	BCORL1_ENST00000540052.1_Missense_Mutation_p.V1690A|BCORL1_ENST00000359304.2_Missense_Mutation_p.V1560A|BCORL1_ENST00000303743.5_Missense_Mutation_p.V1764A			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1690					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GTGGAGCTGGTGCGGTACGAG	0.607																																						.											0													40.0	39.0	40.0					X																	129190044		2203	4300	6503	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.5069T>C	X.37:g.129190044T>C	ENSP00000218147:p.Val1690Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	t	20.8	4.048561	0.75846	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.55413	0.54;0.52;0.56;0.54;0.55	4.85	4.85	0.62838	.	0.000000	0.31507	N	0.007529	T	0.65123	0.2661	M	0.65975	2.015	0.50313	D	0.999861	D;D	0.63880	0.971;0.993	P;P	0.56960	0.697;0.81	T	0.70096	-0.4966	10	0.87932	D	0	-11.4851	13.6255	0.62161	0.0:0.0:0.0:1.0	.	1764;1690	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	A	1690;1764;1560;1690;1364	ENSP00000218147:V1690A;ENSP00000307541:V1764A;ENSP00000352253:V1560A;ENSP00000437775:V1690A;ENSP00000399483:V1364A	ENSP00000218147:V1690A	V	+	2	0	BCORL1	129017725	1.000000	0.71417	0.997000	0.53966	0.875000	0.50365	7.163000	0.77524	1.790000	0.52503	0.414000	0.27820	GTG		0.607	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946	
BDNF	627	mdanderson.org	37	11	27681033	27681033	+	5'UTR	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:27681033A>G	ENST00000525528.1	-	0	172				BDNF_ENST00000438929.1_Intron|BDNF_ENST00000533131.1_Intron|BDNF_ENST00000395980.2_Intron|BDNF_ENST00000533246.1_Intron|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000314915.6_Intron|BDNF_ENST00000395981.3_Intron|BDNF_ENST00000584049.1_Intron|BDNF_ENST00000420794.1_Intron|BDNF-AS_ENST00000501176.2_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000532997.1_Intron|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000439476.2_5'UTR|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000530861.1_Intron|BDNF_ENST00000395986.2_Intron|BDNF_ENST00000525950.1_Intron|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000418212.1_Intron|BDNF_ENST00000395978.3_Intron|BDNF_ENST00000356660.4_Intron|BDNF_ENST00000395983.3_Intron|BDNF-AS_ENST00000502161.2_RNA	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor						axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						AAGACATTTAAGTCCATTTCA	0.383																																						.											0																																										SO:0001623	5_prime_UTR_variant	627			AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"""Endogenous ligands"""	1033	protein-coding gene	gene with protein product	"""neurotrophin"""	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.-922T>C	11.37:g.27681033A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	RNA	SNP	ENST00000525528.1	37	CCDS7866.1																																																																																				0.383	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388135.1	NM_170735	
GAS8	2622	mdanderson.org	37	16	90095596	90095597	+	Intron	DNP	AT	AT	GC	rs61118444|rs55742939|rs71137702	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	AT	AT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:90095596_90095597AT>GC	ENST00000268699.4	+	2	212				GAS8_ENST00000536122.1_Intron|C16orf3_ENST00000408886.2_Missense_Mutation_p.I52A|GAS8_ENST00000540721.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		ggggcaggctatggggcagcct	0.663																																						.											0																																										SO:0001627	intron_variant	750			AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	Exception_encountered	16.37:g.90095596_90095597delinsGC		Somatic		WXS	Illumina HiSeq	Phase_I	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	DNP	ENST00000268699.4	37	CCDS10992.1																																																																																				0.663	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2		
C6orf165	154313	mdanderson.org;bcgsc.ca	37	6	88173817	88173817	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:88173817A>G	ENST00000507897.1	+	13	1801	c.1718A>G	c.(1717-1719)tAc>tGc	p.Y573C	C6ORF165_ENST00000369562.4_Missense_Mutation_p.Y573C|C6orf165_ENST00000506888.1_3'UTR			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	573										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TCCCAAGTGTACCCTCCAAAG	0.473																																						.											0													66.0	60.0	62.0					6																	88173817		2203	4300	6503	SO:0001583	missense	154313			BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1718A>G	6.37:g.88173817A>G	ENSP00000426769:p.Tyr573Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.030745	0.35797	.	.	ENSG00000213204	ENST00000369562	T	0.37752	1.18	5.68	4.5	0.54988	.	0.165538	0.56097	D	0.000028	T	0.47340	0.1440	M	0.75447	2.3	0.52501	D	0.999955	D	0.89917	1.0	D	0.76071	0.987	T	0.50415	-0.8831	10	0.46703	T	0.11	.	12.0793	0.53662	0.871:0.0:0.0:0.129	.	573	Q8IYR0	CF165_HUMAN	C	573	ENSP00000358575:Y573C	ENSP00000358575:Y573C	Y	+	2	0	C6orf165	88230536	1.000000	0.71417	0.298000	0.25002	0.165000	0.22458	4.968000	0.63728	0.955000	0.37878	0.460000	0.39030	TAC		0.473	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823	
CEP170B	283638	mdanderson.org	37	14	105354293	105354293	+	Silent	SNP	A	A	G	rs2582548	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:105354293A>G	ENST00000414716.3	+	12	3945	c.3717A>G	c.(3715-3717)tcA>tcG	p.S1239S	CEP170B_ENST00000453495.1_Silent_p.S1240S|CEP170B_ENST00000556508.1_Silent_p.S1169S|CEP170B_ENST00000418279.1_Silent_p.S1169S	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1239						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.S1170S(1)|p.S1169S(1)|p.S1239S(1)									GGGCCCGCTCAGGCAGTGCCC	0.682													g|||	2823	0.563698	0.5454	0.6527	5008	,	,		15507	0.2272		0.7753	False		,,,				2504	0.6544					.											3	Substitution - coding silent(3)	prostate(3)							,	2278,1490		703,872,309	4.0	5.0	4.0		3717,3507	-2.0	0.9	14	dbSNP_100	4	6255,1709		2492,1271,219	no	coding-synonymous,coding-synonymous	KIAA0284	NM_001112726.2,NM_015005.2	,	3195,2143,528	GG,GA,AA		21.4591,39.5435,27.2673	,	1239/1555,1169/1520	105354293	8533,3199	1884	3982	5866	SO:0001819	synonymous_variant	283638			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.3717A>G	14.37:g.105354293A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	CCDS45175.1																																																																																				0.682	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726	
CHRNA7	1139	mdanderson.org	37	15	32460285	32460285	+	Missense_Mutation	SNP	G	G	A	rs573369306		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:32460285G>A	ENST00000306901.3	+	10	1232	c.1135G>A	c.(1135-1137)Gcc>Acc	p.A379T	CHRNA7_ENST00000454250.3_Missense_Mutation_p.A408T|CHRNA7_ENST00000455693.2_Missense_Mutation_p.A198T	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	379					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GCCGCCGCCCGCCAGCAACGG	0.716																																					Esophageal Squamous(193;529 2900 40232 43193)	.											0													16.0	24.0	21.0					15																	32460285		2179	4281	6460	SO:0001583	missense	1139			Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1960	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 7 (neuronal)"""	118511	"""cholinergic receptor, nicotinic, alpha polypeptide 7"""			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.1135G>A	15.37:g.32460285G>A	ENSP00000303727:p.Ala379Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Missense_Mutation	SNP	ENST00000306901.3	37	CCDS10027.1	.	.	.	.	.	.	.	.	.	.	g	3.425	-0.117298	0.06838	.	.	ENSG00000175344	ENST00000437966;ENST00000454250;ENST00000306901;ENST00000455693	T;T;T	0.19669	2.13;2.13;2.13	3.84	-0.555	0.11807	Neurotransmitter-gated ion-channel transmembrane domain (2);	2.523290	0.01582	N	0.021155	T	0.08179	0.0204	N	0.03000	-0.44	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.20505	-1.0273	10	0.12766	T	0.61	.	3.6481	0.08192	0.494:0.0:0.3237:0.1823	.	408;379	B4DFS0;P36544	.;ACHA7_HUMAN	T	289;408;379;198	ENSP00000407546:A408T;ENSP00000303727:A379T;ENSP00000405989:A198T	ENSP00000303727:A379T	A	+	1	0	CHRNA7	30247577	0.000000	0.05858	0.001000	0.08648	0.477000	0.33069	-0.094000	0.11094	-0.091000	0.12440	0.650000	0.86243	GCC		0.716	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251410.2		
CPEB3	22849	mdanderson.org	37	10	93999850	93999850	+	Silent	SNP	A	A	G	rs3824734	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:93999850A>G	ENST00000265997.4	-	2	430	c.258T>C	c.(256-258)ccT>ccC	p.P86P	CPEB3_ENST00000412050.4_Silent_p.P86P	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	86	Pro-rich.				3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GCTGCTGAGGAGGCTGATGGA	0.721													G|||	3298	0.658546	0.9501	0.745	5008	,	,		9820	0.499		0.6173	False		,,,				2504	0.41					.											0								G	,	3896,456		1755,386,35	13.0	15.0	14.0		258,258	-0.1	1.0	10	dbSNP_107	14	5207,3285		1622,1963,661	no	coding-synonymous,coding-synonymous	CPEB3	NM_001178137.1,NM_014912.4	,	3377,2349,696	GG,GA,AA		38.6835,10.4779,29.1264	,	86/685,86/699	93999850	9103,3741	2176	4246	6422	SO:0001819	synonymous_variant	22849			AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.258T>C	10.37:g.93999850A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q5T389|Q9NQJ7|Q9Y2E9	Silent	SNP	ENST00000265997.4	37	CCDS31246.1																																																																																				0.721	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912	
CROCC	9696	mdanderson.org	37	1	17270751	17270751	+	Silent	SNP	G	G	A	rs12025984	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:17270751G>A	ENST00000375541.5	+	14	2034	c.1965G>A	c.(1963-1965)gcG>gcA	p.A655A	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGGATGGCGCGCGGGTGCGCC	0.711													g|||	1190	0.23762	0.0182	0.3242	5008	,	,		21546	0.4643		0.2495	False		,,,				2504	0.227					.											0													8.0	6.0	7.0					1																	17270751		2084	4087	6171	SO:0001819	synonymous_variant	9696			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1965G>A	1.37:g.17270751G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000375541.5	37	CCDS30616.1																																																																																				0.711	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675	
CXorf22	170063	mdanderson.org;bcgsc.ca	37	X	35944236	35944236	+	Missense_Mutation	SNP	C	C	T	rs368440669		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:35944236C>T	ENST00000297866.5	+	2	418	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	118										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CACTTTTGACCGGCTACTTAT	0.348																																						.											0													61.0	57.0	58.0					X																	35944236		2202	4300	6502	SO:0001583	missense	170063			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.352C>T	X.37:g.35944236C>T	ENSP00000297866:p.Arg118Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538677	0.27475	.	.	ENSG00000165164	ENST00000297866	T	0.16073	2.37	4.73	2.49	0.30216	.	0.493349	0.22804	N	0.055437	T	0.23492	0.0568	L	0.50333	1.59	0.09310	N	1	D	0.76494	0.999	P	0.56700	0.804	T	0.03784	-1.1004	10	0.51188	T	0.08	-6.9226	5.4006	0.16293	0.3062:0.5041:0.1897:0.0	.	118	Q6ZTR5	CX022_HUMAN	W	118	ENSP00000297866:R118W	ENSP00000297866:R118W	R	+	1	2	CXorf22	35854157	0.000000	0.05858	0.015000	0.15790	0.006000	0.05464	0.120000	0.15647	0.851000	0.35264	0.529000	0.55759	CGG		0.348	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632	
CYP3A5	1577	mdanderson.org;bcgsc.ca	37	7	99247772	99247772	+	Missense_Mutation	SNP	A	A	G	rs41279854		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:99247772A>G	ENST00000222982.4	-	12	1436	c.1337T>C	c.(1336-1338)tTt>tCt	p.F446S	CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000343703.5_Missense_Mutation_p.F436S	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	446			F -> S (in dbSNP:rs41279854). {ECO:0000269|PubMed:12893984}.		alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CATGAGAGCAAACCTCATGCC	0.403													A|||	1	0.000199681	0.0	0.0	5008	,	,		18307	0.0		0.001	False		,,,				2504	0.0					.											0			GRCh37	CM033965	CYP3A5	M	rs41279854						279.0	241.0	254.0					7																	99247772		2203	4300	6503	SO:0001583	missense	1577			L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"""Cytochrome P450s"""	2638	protein-coding gene	gene with protein product		605325	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"""				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.1337T>C	7.37:g.99247772A>G	ENSP00000222982:p.Phe446Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Missense_Mutation	SNP	ENST00000222982.4	37	CCDS5672.1	.	.	.	.	.	.	.	.	.	.	A	19.71	3.878797	0.72294	.	.	ENSG00000106258	ENST00000222982;ENST00000343703	T;T	0.73258	-0.73;-0.73	4.73	3.58	0.41010	.	0.099610	0.64402	D	0.000001	D	0.88149	0.6359	H	0.98027	4.13	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.992;0.991;0.995	D	0.87882	0.2678	10	0.87932	D	0	.	8.2279	0.31579	0.9032:0.0:0.0968:0.0	rs41279854	436;446;446	F5H4S0;B2R9K2;P20815	.;.;CP3A5_HUMAN	S	446;436	ENSP00000222982:F446S;ENSP00000342969:F436S	ENSP00000222982:F446S	F	-	2	0	CYP3A5	99085708	1.000000	0.71417	0.419000	0.26584	0.997000	0.91878	8.759000	0.91667	0.660000	0.30964	0.459000	0.35465	TTT		0.403	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345469.1		
E4F1	1877	mdanderson.org	37	16	2282184	2282184	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:2282184T>C	ENST00000301727.4	+	4	476	c.428T>C	c.(427-429)aTc>aCc	p.I143T	E4F1_ENST00000564139.1_Missense_Mutation_p.I143T|E4F1_ENST00000565090.1_Missense_Mutation_p.I143T	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	143					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						GGTGGGCACATCAAAGAGGTC	0.692																																						.											0													62.0	74.0	70.0					16																	2282184		2196	4290	6486	SO:0001583	missense	1877			U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.428T>C	16.37:g.2282184T>C	ENSP00000301727:p.Ile143Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	37	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	T	10.68	1.417085	0.25552	.	.	ENSG00000167967	ENST00000301727	T	0.06768	3.26	5.33	5.33	0.75918	.	0.250879	0.44097	D	0.000499	T	0.20901	0.0503	L	0.53249	1.67	0.36522	D	0.870225	D;D;D	0.63880	0.988;0.988;0.993	P;P;D	0.72338	0.728;0.788;0.977	T	0.15206	-1.0445	10	0.18710	T	0.47	-31.1599	12.6759	0.56893	0.0:0.0:0.0:1.0	.	139;143;143	E9PFZ8;E7EMF7;Q66K89	.;.;E4F1_HUMAN	T	143	ENSP00000301727:I143T	ENSP00000301727:I143T	I	+	2	0	E4F1	2222185	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	0.816000	0.27267	2.026000	0.59711	0.459000	0.35465	ATC		0.692	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424	
EP400NL	347918	mdanderson.org	37	12	132589038	132589038	+	Missense_Mutation	SNP	A	A	G	rs371896558		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:132589038A>G	ENST00000376625.4	+	1	499	c.473A>G	c.(472-474)gAc>gGc	p.D158G	EP400NL_ENST00000389560.2_Missense_Mutation_p.D89G|EP400NL_ENST00000361109.5_Intron|EP400NL_ENST00000392352.1_Intron|EP400NL_ENST00000443539.2_Intron			Q6ZTU2	E400N_HUMAN	EP400 N-terminal like	158										endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						CCTACAGGGGACTTCGTGGAT	0.667																																						.											0													58.0	84.0	76.0					12																	132589038		640	1586	2226	SO:0001583	missense	347918			AK091234		12q24.33	2013-02-15			ENSG00000185684	ENSG00000185684			26602	protein-coding gene	gene with protein product						12477932	Standard	NR_003290		Approved	FLJ33915	uc009zyq.3	Q6ZTU2	OTTHUMG00000168251	ENST00000376625.4:c.473A>G	12.37:g.132589038A>G	ENSP00000365812:p.Asp158Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A6NLB7|A8K0Z5|B3KQY2|Q6NXP1|Q8N253|Q8N7S7|Q9UFJ3	RNA	SNP	ENST00000376625.4	37		.	.	.	.	.	.	.	.	.	.	G	0	-2.726385	0.00091	.	.	ENSG00000185684	ENST00000454179;ENST00000389560;ENST00000539205;ENST00000376625	.	.	.	2.99	2.08	0.27032	.	.	.	.	.	T	0.22244	0.0536	.	.	.	0.09310	P	0.999999999999109	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37731	-0.9693	6	0.02654	T	1	.	8.8159	0.34996	0.1955:0.0:0.8045:0.0	.	158;158	Q6ZTU2-6;Q6ZTU2	.;E400N_HUMAN	G	89;89;89;158	.	ENSP00000328997:D90G	D	+	2	0	EP400NL	131154991	1.000000	0.71417	0.343000	0.25615	0.003000	0.03518	5.797000	0.69087	-0.019000	0.14055	-1.741000	0.00685	GAC		0.667	EP400NL-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_182613	
PLK1	5347	mdanderson.org	37	16	23702743	23702743	+	IGR	SNP	C	C	T	rs144279415	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:23702743C>T	ENST00000300093.4	+	0	2227				ERN2_ENST00000256797.4_Missense_Mutation_p.V842I|ERN2_ENST00000457008.2_Missense_Mutation_p.V742I	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1						activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CAGTCACTGACGTCCTGGGGC	0.622													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17344	0.0		0.0	False		,,,				2504	0.0				Colon(12;240 564 27038 33155)	.											0								C	ILE/VAL	2,4392	4.2+/-10.8	0,2,2195	19.0	21.0	20.0		2524	4.7	0.9	16	dbSNP_134	20	0,8600		0,0,4300	yes	missense	ERN2	NM_033266.3	29	0,2,6495	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging	842/975	23702743	2,12992	2197	4300	6497	SO:0001628	intergenic_variant	10595				CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984		16.37:g.23702743C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	CCDS10616.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.31	3.595516	0.66219	4.55E-4	0.0	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.35973	1.28;1.28	5.68	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.62282	0.2415	M	0.85373	2.75	0.58432	D	0.999997	B;D	0.89917	0.161;1.0	B;D	0.77557	0.018;0.99	T	0.67189	-0.5733	10	0.54805	T	0.06	.	12.4641	0.55749	0.0:0.9188:0.0:0.0812	.	742;794	E7ETG2;A5YM65	.;.	I	842;742	ENSP00000256797:V842I;ENSP00000413812:V742I	ENSP00000256797:V842I	V	-	1	0	ERN2	23610244	1.000000	0.71417	0.888000	0.34837	0.437000	0.31866	4.598000	0.61069	1.410000	0.46936	0.563000	0.77884	GTC		0.622	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030	
FRG1	2483	mdanderson.org	37	4	190876227	190876227	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:190876227G>A	ENST00000226798.4	+	5	575	c.353G>A	c.(352-354)gGt>gAt	p.G118D	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	118					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AAATATCTTGGTATAAATTCA	0.343																																						.											0													63.0	63.0	63.0					4																	190876227		2203	4300	6503	SO:0001583	missense	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.353G>A	4.37:g.190876227G>A	ENSP00000226798:p.Gly118Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	23.7	4.443643	0.83993	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.50548	1.91;0.74	4.04	4.04	0.47022	Actin cross-linking (1);	0.000000	0.85682	D	0.000000	T	0.70684	0.3252	M	0.84433	2.695	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.77016	-0.2744	10	0.72032	D	0.01	-10.9283	14.145	0.65344	0.0:0.0:1.0:0.0	.	118	Q14331	FRG1_HUMAN	D	118;55	ENSP00000226798:G118D;ENSP00000435943:G55D	ENSP00000226798:G118D	G	+	2	0	FRG1	191113221	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.218000	0.95166	1.964000	0.57103	0.567000	0.79289	GGT		0.343	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477	
HLA-B	3106	mdanderson.org	37	6	31324176	31324176	+	Silent	SNP	C	C	G	rs12721836	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:31324176C>G	ENST00000412585.2	-	3	415	c.387G>C	c.(385-387)ccG>ccC	p.P129P		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	129	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GGCGCCCGTCCGGCCCCACGT	0.731									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													.											0													20.0	17.0	18.0					6																	31324176		1973	4106	6079	SO:0001819	synonymous_variant	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.387G>C	6.37:g.31324176C>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q29764	Silent	SNP	ENST00000412585.2	37	CCDS34394.1																																																																																				0.731	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514	
IFRD2	7866	mdanderson.org	37	3	50329826	50329826	+	Silent	SNP	A	A	G	rs1076872	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:50329826A>G	ENST00000429673.2	-	1	71	c.72T>C	c.(70-72)cgT>cgC	p.R24R	IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000436390.1_5'UTR|IFRD2_ENST00000336089.4_Silent_p.R126R|IFRD2_ENST00000417626.2_5'UTR			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	24						nucleus (GO:0005634)		p.R126R(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCCACACGCCACGCGCGCCAC	0.711													g|||	3866	0.771965	0.9871	0.8329	5008	,	,		12532	0.7817		0.6809	False		,,,				2504	0.5215					.											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)						G		1241,85		585,71,7	6.0	13.0	11.0		72	-2.6	0.9	3	dbSNP_86	11	2184,926		782,620,153	no	coding-synonymous	IFRD2	NM_006764.4		1367,691,160	GG,GA,AA		29.7749,6.4103,22.7908		24/507	50329826	3425,1011	663	1555	2218	SO:0001819	synonymous_variant	7866			U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"""interferon-related protein"""	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.72T>C	3.37:g.50329826A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q9BVB4|Q9UJ88	Silent	SNP	ENST00000429673.2	37	CCDS46831.1																																																																																				0.711	IFRD2-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006764	
KCNE1	3753	mdanderson.org	37	21	35821711	35821711	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr21:35821711C>T	ENST00000337385.3	-	3	597	c.222G>A	c.(220-222)tcG>tcA	p.S74S	KCNE1_ENST00000399284.1_Silent_p.S74S|KCNE1_ENST00000399289.3_Silent_p.S74S|KCNE1_ENST00000416357.2_Silent_p.S74S|KCNE1_ENST00000432085.1_Silent_p.S74S|KCNE1_ENST00000399286.2_Silent_p.S74S	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	74			S -> L (in LQT5). {ECO:0000269|PubMed:9354802}.		cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular response to cAMP (GO:0071320)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|protein N-linked glycosylation (GO:0006487)|protein O-linked glycosylation (GO:0006493)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	potassium channel regulator activity (GO:0015459)|telethonin binding (GO:0031433)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	ATGGGTCGTTCGAGTGCTCCA	0.572																																						.											0													95.0	81.0	86.0					21																	35821711		2203	4300	6503	SO:0001819	synonymous_variant	3753			L28168	CCDS13636.1	21q22.1-q22.2	2014-09-17			ENSG00000180509	ENSG00000180509		"""Potassium channels"""	6240	protein-coding gene	gene with protein product		176261				8432548	Standard	NM_001127670		Approved	minK, ISK, JLNS2, LQT5	uc010gmp.4	P15382	OTTHUMG00000086236	ENST00000337385.3:c.222G>A	21.37:g.35821711C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A5H1P2|Q8N709|Q91Z94	Silent	SNP	ENST00000337385.3	37	CCDS13636.1																																																																																				0.572	KCNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194155.1		
KIF19	124602	mdanderson.org	37	17	72350412	72350412	+	Missense_Mutation	SNP	G	G	A	rs2271535	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:72350412G>A	ENST00000389916.4	+	18	2558	c.2420G>A	c.(2419-2421)cGc>cAc	p.R807H	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	807			R -> H (in dbSNP:rs2271535).		ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCGACAGAGCGCAGCAGCCTG	0.711													G|||	1718	0.343051	0.0756	0.4207	5008	,	,		13893	0.4008		0.4712	False		,,,				2504	0.4581					.											0								G	HIS/ARG	571,3475		68,435,1520	16.0	22.0	20.0		2420	1.8	1.0	17	dbSNP_100	20	3907,4455		949,2009,1223	yes	missense	KIF19	NM_153209.3	29	1017,2444,2743	AA,AG,GG		46.7233,14.1127,36.0896	possibly-damaging	807/999	72350412	4478,7930	2023	4181	6204	SO:0001583	missense	124602			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.2420G>A	17.37:g.72350412G>A	ENSP00000374566:p.Arg807His	Somatic		WXS	Illumina HiSeq	Phase_I	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	CCDS32718.2	790	0.3617216117216117	40	0.08130081300813008	149	0.4116022099447514	242	0.4230769230769231	359	0.4736147757255937	G	12.77	2.036734	0.35893	0.141127	0.467233	ENSG00000196169	ENST00000389916	T	0.71817	-0.6	5.06	1.78	0.24846	.	.	.	.	.	T	0.00012	0.0000	L	0.54323	1.7	0.41050	P	0.014703000000000022	B	0.13594	0.008	B	0.06405	0.002	T	0.38351	-0.9665	8	0.37606	T	0.19	.	6.784	0.23664	0.2165:0.2365:0.547:0.0	rs2271535;rs58995647	807	Q2TAC6	KIF19_HUMAN	H	807	ENSP00000374566:R807H	ENSP00000374566:R807H	R	+	2	0	KIF19	69862007	1.000000	0.71417	0.967000	0.41034	0.417000	0.31264	1.286000	0.33273	1.141000	0.42275	0.556000	0.70494	CGC		0.711	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209	
KRT6A	3853	mdanderson.org	37	12	52882315	52882315	+	Silent	SNP	G	G	A	rs369027797		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:52882315G>A	ENST00000330722.6	-	7	1289	c.1221C>T	c.(1219-1221)gcC>gcT	p.A407A		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	407	Coil 2.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGCAATGGCGGCCTGCAGGT	0.557																																						.											0								G		2,4404	2.1+/-5.4	0,2,2201	71.0	67.0	68.0		1221	-5.9	0.7	12		68	2,8598		0,2,4298	no	coding-synonymous	KRT6A	NM_005554.3		0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308		407/565	52882315	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	3853			BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1221C>T	12.37:g.52882315G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Silent	SNP	ENST00000330722.6	37	CCDS41786.1																																																																																				0.557	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554	
KRTAP4-11	653240	mdanderson.org	37	17	39274319	39274319	+	Missense_Mutation	SNP	G	G	C	rs199712484		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:39274319G>C	ENST00000391413.2	-	1	287	c.249C>G	c.(247-249)agC>agG	p.S83R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	83	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.S83R(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTTGCAGCAGCTGGACACAC	0.662																																						.											1	Substitution - Missense(1)	endometrium(1)																																								SO:0001583	missense	653240			AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.249C>G	17.37:g.39274319G>C	ENSP00000375232:p.Ser83Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	11.88	1.769671	0.31320	.	.	ENSG00000212721	ENST00000391413	T	0.00686	5.85	4.12	0.987	0.19790	.	8.728350	0.01373	U	0.012645	T	0.01835	0.0058	M	0.85710	2.77	0.20489	N	0.999895	B	0.21381	0.055	B	0.12156	0.007	T	0.50676	-0.8800	10	0.66056	D	0.02	.	3.7776	0.08667	0.3083:0.1839:0.5078:0.0	.	83	Q9BYQ6	KR411_HUMAN	R	83	ENSP00000375232:S83R	ENSP00000375232:S83R	S	-	3	2	KRTAP4-11	36527845	0.052000	0.20516	0.390000	0.26220	0.120000	0.20174	0.102000	0.15272	0.075000	0.16796	0.511000	0.50034	AGC		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1		
KRTAP4-11	653240	mdanderson.org	37	17	39274364	39274364	+	Missense_Mutation	SNP	T	T	G	rs425784		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:39274364T>G	ENST00000391413.2	-	1	242	c.204A>C	c.(202-204)agA>agC	p.R68S		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	68	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGATGCAGCATCTGGGGCGGC	0.667																																						.											0													8.0	12.0	11.0					17																	39274364		676	1581	2257	SO:0001583	missense	653240			AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.204A>C	17.37:g.39274364T>G	ENSP00000375232:p.Arg68Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	0.572	-0.840659	0.02692	.	.	ENSG00000212721	ENST00000391413	T	0.01139	5.28	3.77	-0.689	0.11313	.	91.536500	0.00963	N	0.003131	T	0.00271	0.0008	N	0.00022	-2.74	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.53429	-0.8440	10	0.02654	T	1	.	0.7939	0.01062	0.2891:0.1622:0.3809:0.1678	rs425784	68	Q9BYQ6	KR411_HUMAN	S	68	ENSP00000375232:R68S	ENSP00000375232:R68S	R	-	3	2	KRTAP4-11	36527890	0.005000	0.15991	0.041000	0.18516	0.133000	0.20885	-0.083000	0.11286	-0.156000	0.11079	-0.875000	0.02981	AGA		0.667	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1		
MRPS30	10884	mdanderson.org	37	5	44811198	44811198	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:44811198G>A	ENST00000507110.1	+	2	727	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	RP11-53O19.1_ENST00000503179.1_RNA|RP11-53O19.1_ENST00000505401.1_RNA|RP11-53O19.1_ENST00000508945.1_RNA|RP11-53O19.1_ENST00000514597.1_RNA|RP11-53O19.1_ENST00000505637.1_RNA|RP11-53O19.1_ENST00000505302.1_RNA|RP11-53O19.1_ENST00000503452.1_RNA|RP11-53O19.1_ENST00000508123.1_RNA	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	230					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					GATGACTTGCGATACCAGATA	0.383																																						.											0													137.0	135.0	136.0					5																	44811198		2203	4300	6503	SO:0001583	missense	10884			AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"""Mitochondrial ribosomal proteins / small subunits"""	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.689G>A	5.37:g.44811198G>A	ENSP00000424328:p.Arg230Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Missense_Mutation	SNP	ENST00000507110.1	37	CCDS3951.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080982	0.94050	.	.	ENSG00000112996	ENST00000507110	T	0.19669	2.13	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.48519	0.1504	M	0.78049	2.395	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.37056	-0.9722	10	0.27785	T	0.31	-2.816	18.9329	0.92574	0.0:0.0:1.0:0.0	.	230	Q9NP92	RT30_HUMAN	Q	230	ENSP00000424328:R230Q	ENSP00000424328:R230Q	R	+	2	0	MRPS30	44846955	1.000000	0.71417	0.998000	0.56505	0.722000	0.41435	8.419000	0.90253	2.631000	0.89168	0.655000	0.94253	CGA		0.383	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640	
MUC5B	727897	mdanderson.org	37	11	1266696	1266696	+	Silent	SNP	A	A	C	rs532138150	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:1266696A>C	ENST00000529681.1	+	31	8644	c.8586A>C	c.(8584-8586)ccA>ccC	p.P2862P	MUC5B_ENST00000447027.1_Silent_p.P2865P|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2862	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CATCGGCCCCAATAACCACGG	0.692													-|||	1610	0.321486	0.236	0.3386	5008	,	,		9611	0.497		0.2575	False		,,,				2504	0.3098					.											0													54.0	65.0	61.0					11																	1266696		1727	3813	5540	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.8586A>C	11.37:g.1266696A>C		Somatic		WXS	Illumina HiSeq	Phase_I	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																				0.692	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
MYO5B	4645	mdanderson.org	37	18	47363927	47363927	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:47363927G>A	ENST00000285039.7	-	37	5397	c.5098C>T	c.(5098-5100)Cgg>Tgg	p.R1700W	MYO5B_ENST00000324581.6_Missense_Mutation_p.R815W|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.R23W|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_Missense_Mutation_p.R270W	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1700	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ACGTCCTTCCGCAAGAGCAGG	0.532																																						.											0													69.0	68.0	68.0					18																	47363927		2041	4196	6237	SO:0001583	missense	4645			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.5098C>T	18.37:g.47363927G>A	ENSP00000285039:p.Arg1700Trp	Somatic		WXS	Illumina HiSeq	Phase_I	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921476	0.73213	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	D;T	0.89939	-2.59;1.88	4.77	2.84	0.33178	Dilute (1);Dil domain (1);	0.000000	0.85682	D	0.000000	D	0.95159	0.8431	M	0.93462	3.42	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95459	0.8541	10	0.87932	D	0	.	11.3617	0.49646	0.0:0.0:0.4652:0.5348	.	1700;815	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	W	1700;815	ENSP00000285039:R1700W;ENSP00000315531:R815W	ENSP00000285039:R1700W	R	-	1	2	MYO5B	45617925	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.565000	0.36386	1.356000	0.45884	0.591000	0.81541	CGG		0.532	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2		
NBPF10	100132406	mdanderson.org	37	1	145299824	145299824	+	Missense_Mutation	SNP	C	C	G	rs9424711		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:145299824C>G	ENST00000369338.1	+	2	250	c.60C>G	c.(58-60)atC>atG	p.I20M	NBPF10_ENST00000369339.3_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Missense_Mutation_p.I291M			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	291						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTCTAGAAATCAATGAGAAAT	0.522																																						.											0													14.0	12.0	12.0					1																	145299824		691	1577	2268	SO:0001583	missense	100132406			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369338.1:c.60C>G	1.37:g.145299824C>G	ENSP00000358344:p.Ile20Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369338.1	37		.	.	.	.	.	.	.	.	.	.	.	8.435	0.849541	0.17034	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.03272	3.99;4.04	1.05	1.05	0.20165	.	.	.	.	.	T	0.01835	0.0058	M	0.73962	2.25	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37244	-0.9714	9	0.48119	T	0.1	.	5.4961	0.16804	0.0:1.0:0.0:0.0	rs9424711	20	Q86T75-2	.	M	216;20;20;291	ENSP00000358344:I20M;ENSP00000345684:I291M	ENSP00000345684:I291M	I	+	3	3	NBPF10	144011181	0.009000	0.17119	0.003000	0.11579	0.009000	0.06853	0.514000	0.22786	0.879000	0.35944	0.281000	0.19383	ATC		0.522	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038552.1	NM_001039703	
NUDT12	83594	mdanderson.org	37	5	102895830	102895830	+	Silent	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:102895830A>G	ENST00000230792.2	-	2	216	c.120T>C	c.(118-120)aaT>aaC	p.N40N	NUDT12_ENST00000507423.1_Silent_p.N40N	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	40					NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		CAGAAGTTTCATTGAGAAGAG	0.413																																						.											0													135.0	129.0	131.0					5																	102895830		2202	4300	6502	SO:0001819	synonymous_variant	83594			AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"""Nudix motif containing"", ""Ankyrin repeat domain containing"""	18826	protein-coding gene	gene with protein product	"""nucleoside diphosphate linked moiety X-type motif 12"""	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.120T>C	5.37:g.102895830A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B3KUW2|Q8TAL7	Silent	SNP	ENST00000230792.2	37	CCDS4096.1																																																																																				0.413	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438	
PCDHB8	56128	mdanderson.org	37	5	140559320	140559320	+	Missense_Mutation	SNP	G	G	A	rs17844498	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140559320G>A	ENST00000239444.2	+	1	1950	c.1705G>A	c.(1705-1707)Ggc>Agc	p.G569S	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	569	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.			G -> S (in Ref. 4; AAG10031). {ECO:0000305}.	homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGCAGAATGGCTCCGCGCC	0.716													g|||	2327	0.464657	0.4826	0.5	5008	,	,		18920	0.5625		0.3857	False		,,,				2504	0.3957					.											0													15.0	26.0	22.0					5																	140559320		2189	4273	6462	SO:0001583	missense	56128			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1705G>A	5.37:g.140559320G>A	ENSP00000239444:p.Gly569Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	CCDS4250.1	962	0.44047619047619047	215	0.4369918699186992	163	0.45027624309392267	320	0.5594405594405595	264	0.3482849604221636	G	6.532	0.466426	0.12402	.	.	ENSG00000120322	ENST00000239444	T	0.60797	0.16	4.22	2.36	0.29203	Cadherin-like (1);	.	.	.	.	T	0.00012	0.0000	N	0.21448	0.665	0.80722	P	0.0	B	0.11235	0.004	B	0.20767	0.031	T	0.45687	-0.9244	8	0.45353	T	0.12	.	8.2304	0.31595	0.2825:0.0:0.7175:0.0	rs17844498	569	Q9UN66	PCDB8_HUMAN	S	569	ENSP00000239444:G569S	ENSP00000239444:G569S	G	+	1	0	PCDHB8	140539504	0.000000	0.05858	0.335000	0.25508	0.491000	0.33493	0.188000	0.17018	0.235000	0.21160	-0.706000	0.03657	GGC		0.716	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120	
POLM	27434	mdanderson.org	37	7	44121936	44121936	+	Silent	SNP	C	C	A	rs3218655	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:44121936C>A	ENST00000242248.5	-	1	203	c.102G>T	c.(100-102)ctG>ctT	p.L34L	POLM_ENST00000395831.3_Silent_p.L34L|POLM_ENST00000335195.6_Silent_p.L34L	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	34	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						GAGGCTCGACCAGGTAGATGG	0.736								DNA polymerases (catalytic subunits)					C|||	853	0.170327	0.2163	0.1844	5008	,	,		9905	0.1111		0.1491	False		,,,				2504	0.181					.											0								C		772,3464		79,614,1425	7.0	8.0	8.0		102	4.4	1.0	7	dbSNP_106	8	995,7359		69,857,3251	no	coding-synonymous	POLM	NM_013284.2		148,1471,4676	AA,AC,CC		11.9105,18.2247,14.0349		34/495	44121936	1767,10823	2118	4177	6295	SO:0001819	synonymous_variant	27434			AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"""DNA polymerases"""	9185	protein-coding gene	gene with protein product	"""Pol iota"""	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.102G>T	7.37:g.44121936C>A		Somatic		WXS	Illumina HiSeq	Phase_I	D3DVK4|Q6P5X8|Q86WQ9	Silent	SNP	ENST00000242248.5	37	CCDS34625.1																																																																																				0.736	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284	
POM121	9883	mdanderson.org	37	7	72413243	72413243	+	Missense_Mutation	SNP	A	A	C	rs437678	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:72413243A>C	ENST00000434423.2	+	11	2711	c.2711A>C	c.(2710-2712)cAc>cCc	p.H904P	POM121_ENST00000257622.4_Missense_Mutation_p.H639P|POM121_ENST00000446813.1_Missense_Mutation_p.H639P|POM121_ENST00000395270.1_Missense_Mutation_p.H639P|POM121_ENST00000358357.3_Missense_Mutation_p.H639P			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	904	Pore side. {ECO:0000255}.|Thr-rich.			H -> P (in Ref. 3; BAB14097). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.H639P(6)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CAGTCCCTGCACACTGCCGTG	0.647																																						.											6	Substitution - Missense(6)	prostate(6)											88.0	107.0	101.0					7																	72413243		2117	4262	6379	SO:0001583	missense	9883			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.2711A>C	7.37:g.72413243A>C	ENSP00000405562:p.His904Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37		.	.	.	.	.	.	.	.	.	.	C	0.003	-2.495477	0.00159	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.04454	3.62;3.62;3.62;3.62;3.87	1.77	1.77	0.24775	.	0.328471	0.18142	N	0.150374	T	0.00815	0.0027	N	0.00063	-2.32	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41124	-0.9526	9	0.02654	T	1	.	7.4894	0.27452	0.2589:0.7411:0.0:0.0	.	639;904	A8MXF9;Q96HA1	.;P121A_HUMAN	P	639;639;639;639;904	ENSP00000393020:H639P;ENSP00000257622:H639P;ENSP00000378687:H639P;ENSP00000351124:H639P;ENSP00000405562:H904P	ENSP00000257622:H639P	H	+	2	0	POM121	72051179	0.000000	0.05858	0.008000	0.14137	0.223000	0.24884	0.580000	0.23803	0.325000	0.23359	-1.203000	0.01651	CAC		0.647	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1		
GGTLC2	91227	mdanderson.org	37	22	22986764	22986764	+	5'Flank	SNP	G	G	C	rs62228122	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:22986764G>C	ENST00000480559.1	+	0	0				GGTLC2_ENST00000448514.1_5'Flank|POM121L1P_ENST00000402027.1_RNA	NM_199127.2	NP_954578.2	Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2						glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)	gamma-glutamyltransferase activity (GO:0003840)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		GCCACTCAGTGCACGGGCAGG	0.582													.|||	3567	0.71226	0.6717	0.6585	5008	,	,		904	0.9504		0.4891	False		,,,				2504	0.7894					.											0																																										SO:0001631	upstream_gene_variant	25812			X98922	CCDS13802.2	22q11.21	2008-03-25	2008-03-10	2008-03-10	ENSG00000100121	ENSG00000100121		"""Gamma-glutamyltransferases"""	18596	protein-coding gene	gene with protein product		612339	"""gamma-glutamyltransferase-like 4"""	GGTL4		9074928, 18357469	Standard	NM_199127		Approved		uc010gtt.2	Q14390	OTTHUMG00000151177		22.37:g.22986764G>C	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_I	A1A516|A2VCM9|Q5NV76|Q6ISH0	RNA	SNP	ENST00000480559.1	37	CCDS13802.2																																																																																				0.582	GGTLC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321662.1	NM_199127	
PRSS1	5644	mdanderson.org	37	7	142460764	142460764	+	Missense_Mutation	SNP	G	G	A	rs200902389		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:142460764G>A	ENST00000311737.7	+	5	643	c.637G>A	c.(637-639)Gtt>Att	p.V213I	PRSS1_ENST00000486171.1_Missense_Mutation_p.V227I	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	213	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	GCTCCAAGGAGTTGTCTCCTG	0.507																																						.											0																																										SO:0001583	missense	5644			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.637G>A	7.37:g.142460764G>A	ENSP00000308720:p.Val213Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.715405	0.00093	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.92495	-3.05;-3.05	3.18	-2.69	0.06022	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.441828	0.26891	N	0.021970	T	0.73860	0.3641	N	0.04387	-0.21	0.19575	N	0.999967	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.003	T	0.65500	-0.6153	10	0.02654	T	1	.	8.608	0.33784	0.6977:0.0:0.3023:0.0	.	227;213	E7EQ64;P07477	.;TRY1_HUMAN	I	227;213;203	ENSP00000417854:V227I;ENSP00000308720:V213I	ENSP00000308720:V213I	V	+	1	0	PRSS1	142140338	0.000000	0.05858	0.014000	0.15608	0.002000	0.02628	-0.180000	0.09754	-0.675000	0.05246	-1.152000	0.01820	GTT		0.507	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2		
PRSS1	5644	mdanderson.org	37	7	142460778	142460778	+	Silent	SNP	T	T	C	rs562372415		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:142460778T>C	ENST00000311737.7	+	5	657	c.651T>C	c.(649-651)ggT>ggC	p.G217G	PRSS1_ENST00000486171.1_Silent_p.G231G	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	217	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	TCTCCTGGGGTGATGGCTGTG	0.522													t|||	1	0.000199681	0.0	0.0	5008	,	,		16577	0.001		0.0	False		,,,				2504	0.0					.											0													81.0	82.0	81.0					7																	142460778		2203	4300	6503	SO:0001819	synonymous_variant	5644			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.651T>C	7.37:g.142460778T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Silent	SNP	ENST00000311737.7	37	CCDS5872.1																																																																																				0.522	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2		
RAB44	401258	mdanderson.org;bcgsc.ca	37	6	36695383	36695383	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:36695383G>A	ENST00000229824.8	+	8	2392	c.2392G>A	c.(2392-2394)Gca>Aca	p.A798T		NM_001257357.1	NP_001244286.1	Q7Z6P3	RAB44_HUMAN	RAB44, member RAS oncogene family	0					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			kidney(1)	1						CAGCTGCTCCGCAAGGCTGAC	0.617																																						.											0																																										SO:0001583	missense	401258				CCDS75442.1	6p21.31-p21.2	2012-04-20	2004-02-03	2004-07-01	ENSG00000255587	ENSG00000255587		"""RAB, member RAS oncogene"""	21068	protein-coding gene	gene with protein product			"""RASD family, member 3"""	RASD3, RASL13			Standard	NM_001257357		Approved	dJ431A14.3	uc010jwm.2	Q7Z6P3	OTTHUMG00000016308	ENST00000229824.8:c.2392G>A	6.37:g.36695383G>A	ENSP00000229824:p.Ala798Thr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000229824.8	37		.	.	.	.	.	.	.	.	.	.	G	14.99	2.700984	0.48307	.	.	ENSG00000255587	ENST00000229824	.	.	.	5.24	3.47	0.39725	.	0.000000	0.38436	N	0.001699	T	0.64972	0.2647	M	0.82630	2.6	0.80722	D	1	.	.	.	.	.	.	T	0.69131	-0.5226	7	0.87932	D	0	.	8.9699	0.35899	0.1743:0.0:0.8257:0.0	.	.	.	.	H	92	.	ENSP00000229824:R92H	R	+	2	0	RAB44	36803361	1.000000	0.71417	0.998000	0.56505	0.869000	0.49853	3.698000	0.54771	0.605000	0.29947	-0.251000	0.11542	CGC		0.617	RAB44-001	PUTATIVE	not_organism_supported|mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043674.3	XM_003403440	
RADIL	55698	mdanderson.org	37	7	4876100	4876100	+	Silent	SNP	G	G	A	rs138811640	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:4876100G>A	ENST00000399583.3	-	3	859	c.672C>T	c.(670-672)aaC>aaT	p.N224N	RADIL_ENST00000536091.1_Silent_p.N224N|RADIL_ENST00000538469.1_De_novo_Start_OutOfFrame	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	224					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)		p.N224N(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CGGGCAGGGCGTTCACTGGGC	0.721													G|||	60	0.0119808	0.0015	0.0173	5008	,	,		12942	0.0		0.0249	False		,,,				2504	0.0215					.											1	Substitution - coding silent(1)	lung(1)						G		16,4162		0,16,2073	11.0	18.0	16.0		672	0.3	0.1	7	dbSNP_134	16	205,8153		6,193,3980	no	coding-synonymous	RADIL	NM_018059.4		6,209,6053	AA,AG,GG		2.4527,0.383,1.7629		224/1076	4876100	221,12315	2089	4179	6268	SO:0001819	synonymous_variant	55698			AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.672C>T	7.37:g.4876100G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	CCDS43544.1																																																																																				0.721	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059	
RASGRF1	5923	mdanderson.org;bcgsc.ca	37	15	79324607	79324607	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:79324607A>G	ENST00000419573.3	-	7	1284	c.1010T>C	c.(1009-1011)gTc>gCc	p.V337A	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.V337A	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	337	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTGGTTGCGGACGAACTCTTG	0.587																																						.											0													182.0	108.0	133.0					15																	79324607		2196	4293	6489	SO:0001583	missense	5923			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1010T>C	15.37:g.79324607A>G	ENSP00000405963:p.Val337Ala	Somatic		WXS	Illumina HiSeq	Phase_I	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.303454	0.81136	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.64618	-0.11	4.35	4.35	0.52113	Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000001	T	0.74906	0.3778	M	0.74389	2.26	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.998	D;D;D;D	0.81914	0.986;0.991;0.995;0.984	T	0.72757	-0.4197	10	0.22706	T	0.39	.	11.5552	0.50743	1.0:0.0:0.0:0.0	.	337;337;337;337	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	A	337	ENSP00000405963:V337A	ENSP00000378224:V337A	V	-	2	0	RASGRF1	77111662	1.000000	0.71417	0.656000	0.29637	0.959000	0.62525	8.915000	0.92740	1.833000	0.53350	0.402000	0.26972	GTC		0.587	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891	
RERE	473	mdanderson.org	37	1	8421203	8421203	+	Silent	SNP	T	T	C	rs13596	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:8421203T>C	ENST00000337907.3	-	19	2998	c.2364A>G	c.(2362-2364)ccA>ccG	p.P788P	RERE_ENST00000476556.1_Silent_p.P234P|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Silent_p.P788P|RERE_ENST00000377464.1_Silent_p.P520P	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	788	Pro-rich.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TGGGAGCCTGTGGCTGGTTAG	0.731													t|||	4006	0.79992	0.8411	0.7925	5008	,	,		12992	0.9206		0.6819	False		,,,				2504	0.7464					.											0								T	,,	3390,752		1409,572,90	6.0	7.0	7.0		2364,702,2364	-10.0	0.0	1	dbSNP_52	7	5605,2589		1942,1721,434	no	coding-synonymous,coding-synonymous,coding-synonymous	RERE	NM_001042681.1,NM_001042682.1,NM_012102.3	,,	3351,2293,524	CC,CT,TT		31.5963,18.1555,27.0833	,,	788/1567,234/1013,788/1567	8421203	8995,3341	2071	4097	6168	SO:0001819	synonymous_variant	473			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.2364A>G	1.37:g.8421203T>C		Somatic		WXS	Illumina HiSeq	Phase_I	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	ENST00000337907.3	37	CCDS95.1																																																																																				0.731	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1		
RTEL1	51750	mdanderson.org	37	20	62322288	62322288	+	Silent	SNP	T	T	C	rs3208007	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:62322288T>C	ENST00000360203.5	+	27	2869	c.2544T>C	c.(2542-2544)ccT>ccC	p.P848P	RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.P848P|RTEL1_ENST00000318100.4_Silent_p.P848P|RTEL1_ENST00000508582.2_Silent_p.P872P|RTEL1_ENST00000370018.3_Silent_p.P848P|RTEL1_ENST00000370003.1_Silent_p.P93P					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CGGGGAGCCCTGGCGAGGAGC	0.692													C|||	3596	0.718051	0.9735	0.7161	5008	,	,		14969	0.2907		0.7952	False		,,,				2504	0.7352					.											0								C	,	3922,276		1840,242,17	15.0	16.0	16.0		2544,2616	-2.0	0.0	20	dbSNP_105	16	6536,1786		2569,1398,194	no	coding-synonymous,coding-synonymous	RTEL1	NM_016434.3,NM_032957.4	,	4409,1640,211	CC,CT,TT		21.4612,6.5746,16.4696	,	848/1220,872/1244	62322288	10458,2062	2099	4161	6260	SO:0001819	synonymous_variant	51750			AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2544T>C	20.37:g.62322288T>C		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000360203.5	37																																																																																					0.692	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957	
RUNX2	860	mdanderson.org	37	6	45459753	45459753	+	Missense_Mutation	SNP	A	A	G	rs377128508		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:45459753A>G	ENST00000371438.1	+	5	1119	c.761A>G	c.(760-762)cAt>cGt	p.H254R	RUNX2_ENST00000465038.2_Missense_Mutation_p.H254R|RUNX2_ENST00000359524.5_Missense_Mutation_p.H240R|RUNX2_ENST00000371436.6_Missense_Mutation_p.H254R|RUNX2_ENST00000576263.1_Missense_Mutation_p.H254R|RUNX2_ENST00000371432.3_Missense_Mutation_p.H240R|RUNX2_ENST00000541979.1_Missense_Mutation_p.H322R|RUNX2_ENST00000352853.5_Missense_Mutation_p.H322R	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	254	Pro/Ser/Thr-rich.|Required for interaction with FOXO1. {ECO:0000250}.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CGCATTCCTCATCCCAGTATG	0.478																																						.											0								A	ARG/HIS,ARG/HIS,ARG/HIS	0,4406		0,0,2203	419.0	323.0	356.0		719,761,761	6.0	1.0	6		356	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	RUNX2	NM_004348.3,NM_001024630.3,NM_001015051.3	29,29,29	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign,benign	240/508,254/522,254/500	45459753	1,13005	2203	4300	6503	SO:0001583	missense	860			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.761A>G	6.37:g.45459753A>G	ENSP00000360493:p.His254Arg	Somatic		WXS	Illumina HiSeq	Phase_I	O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	A	8.548	0.874842	0.17395	0.0	1.16E-4	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	D;D;D;D;D;D;D	0.96745	-4.1;-4.11;-4.11;-4.1;-4.1;-4.09;-4.1	6.03	6.03	0.97812	.	0.054231	0.85682	D	0.000000	D	0.85414	0.5691	N	0.12182	0.205	0.49582	D	0.999807	B;B;B	0.19706	0.029;0.038;0.017	B;B;B	0.19946	0.027;0.01;0.009	T	0.82766	-0.0295	10	0.07644	T	0.81	-8.894	16.5655	0.84588	1.0:0.0:0.0:0.0	.	322;254;240	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	R	254;322;322;254;254;240;240	ENSP00000420707:H254R;ENSP00000319087:H322R;ENSP00000446290:H322R;ENSP00000360493:H254R;ENSP00000360491:H254R;ENSP00000352514:H240R;ENSP00000360486:H240R	ENSP00000319087:H322R	H	+	2	0	RUNX2	45567731	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.414000	0.73318	2.302000	0.77476	0.533000	0.62120	CAT		0.478	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348	
SBNO2	22904	mdanderson.org	37	19	1116911	1116911	+	Silent	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:1116911C>T	ENST00000361757.3	-	16	1956	c.1719G>A	c.(1717-1719)ggG>ggA	p.G573G	SBNO2_ENST00000587024.1_Silent_p.G563G|SBNO2_ENST00000438103.2_Silent_p.G516G	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	573					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGACTGCAGCCCGATGACCA	0.687																																						.											0													24.0	28.0	26.0					19																	1116911		2138	4209	6347	SO:0001819	synonymous_variant	22904			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.1719G>A	19.37:g.1116911C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP	ENST00000361757.3	37	CCDS45894.1																																																																																				0.687	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963	
SH3GLB1	51100	mdanderson.org	37	1	87181510	87181510	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:87181510T>C	ENST00000370558.4	+	2	500	c.176T>C	c.(175-177)aTa>aCa	p.I59T	SH3GLB1_ENST00000482504.1_Missense_Mutation_p.I59T|SH3GLB1_ENST00000535010.1_Intron	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	59	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				'de novo' posttranslational protein folding (GO:0051084)|apoptotic process (GO:0006915)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	fatty acid binding (GO:0005504)|identical protein binding (GO:0042802)|lysophosphatidic acid acyltransferase activity (GO:0042171)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		ACAGAAAAAATAATGAAACAA	0.358																																						.											0													72.0	69.0	70.0					1																	87181510		2203	4300	6503	SO:0001583	missense	51100			AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	10833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 70"""	609287	"""SH3-domain, GRB2-like, endophilin B1"""			11161816, 11259440	Standard	NM_016009		Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.176T>C	1.37:g.87181510T>C	ENSP00000473267:p.Ile59Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Missense_Mutation	SNP	ENST00000370558.4	37	CCDS710.1	.	.	.	.	.	.	.	.	.	.	T	17.99	3.522680	0.64747	.	.	ENSG00000097033	ENST00000212369;ENST00000482504	T	0.36340	1.26	5.21	5.21	0.72293	BAR (3);	0.041759	0.85682	D	0.000000	T	0.55114	0.1900	M	0.87827	2.91	0.80722	D	1	P;D	0.55605	0.726;0.972	B;P	0.62491	0.261;0.903	T	0.65656	-0.6115	10	0.87932	D	0	-9.4644	15.0805	0.72110	0.0:0.0:0.0:1.0	.	59;59	Q9Y371-2;Q9Y371	.;SHLB1_HUMAN	T	59	ENSP00000418744:I59T	ENSP00000212369:I59T	I	+	2	0	SH3GLB1	86954098	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.036000	0.88901	1.963000	0.57068	0.482000	0.46254	ATA		0.358	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028287.2	NM_016009	
SLC35G5	83650	mdanderson.org	37	8	11189403	11189403	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:11189403C>A	ENST00000382435.4	+	1	1007	c.788C>A	c.(787-789)gCc>gAc	p.A263D		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	263						integral component of membrane (GO:0016021)											GGGATCCTCGCCTTGGTCTCC	0.627																																						.											0													118.0	114.0	115.0					8																	11189403		2203	4300	6503	SO:0001583	missense	83650			AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.788C>A	8.37:g.11189403C>A	ENSP00000371872:p.Ala263Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115895	0.37339	.	.	ENSG00000177710	ENST00000382435	T	0.69685	-0.42	.	.	.	.	0.000000	0.44285	D	0.000479	T	0.62380	0.2423	L	0.51422	1.61	0.37002	D	0.895315	P	0.38582	0.638	P	0.47015	0.534	T	0.61068	-0.7137	9	0.49607	T	0.09	-2.6207	5.8679	0.18786	0.0:0.9992:0.0:8.0E-4	.	263	Q96KT7	S35G5_HUMAN	D	263	ENSP00000371872:A263D	ENSP00000371872:A263D	A	+	2	0	SLC35G5	11226813	0.246000	0.23909	0.169000	0.22859	0.170000	0.22686	3.079000	0.50104	0.088000	0.17205	0.089000	0.15464	GCC		0.627	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028	
SRP72	6731	mdanderson.org;bcgsc.ca	37	4	57344581	57344581	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:57344581A>G	ENST00000342756.5	+	7	1400	c.679A>G	c.(679-681)Atc>Gtc	p.I227V	SRP72_ENST00000510663.1_Intron	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	227					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					AGAACTGGCCATCATTCATGG	0.373																																						.											0													58.0	57.0	57.0					4																	57344581		2203	4300	6503	SO:0001583	missense	6731			AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.679A>G	4.37:g.57344581A>G	ENSP00000342181:p.Ile227Val	Somatic		WXS	Illumina HiSeq	Phase_I	G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	A	5.002	0.185997	0.09495	.	.	ENSG00000174780	ENST00000342756;ENST00000505314	D	0.93763	-3.28	5.09	5.09	0.68999	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.049028	0.85682	D	0.000000	T	0.82176	0.4980	N	0.03050	-0.425	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.14023	0.006;0.01	T	0.77520	-0.2557	10	0.14252	T	0.57	.	12.8538	0.57873	1.0:0.0:0.0:0.0	.	227;227	Q86X80;O76094	.;SRP72_HUMAN	V	227;32	ENSP00000342181:I227V	ENSP00000342181:I227V	I	+	1	0	SRP72	57039338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.095000	0.71439	1.913000	0.55393	0.528000	0.53228	ATC		0.373	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7		
SSMEM1	136263	mdanderson.org;bcgsc.ca	37	7	129855843	129855843	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:129855843A>G	ENST00000297819.3	+	3	319	c.268A>G	c.(268-270)Agc>Ggc	p.S90G		NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	90						integral component of membrane (GO:0016021)											TAAGCGGCAAAGCAAAGACAG	0.408																																						.											0													116.0	105.0	109.0					7																	129855843		2203	4300	6503	SO:0001583	missense	0			AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 45"""	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.268A>G	7.37:g.129855843A>G	ENSP00000297819:p.Ser90Gly	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000297819.3	37	CCDS5816.1	.	.	.	.	.	.	.	.	.	.	A	7.226	0.598261	0.13939	.	.	ENSG00000165120	ENST00000297819	T	0.49139	0.79	5.84	4.69	0.59074	.	0.722123	0.13772	N	0.363833	T	0.37571	0.1008	L	0.35723	1.085	0.09310	N	1	B	0.17268	0.021	B	0.15484	0.013	T	0.23547	-1.0185	10	0.36615	T	0.2	0.0253	9.5225	0.39145	0.9201:0.0:0.0799:0.0	.	90	Q8WWF3	CG045_HUMAN	G	90	ENSP00000297819:S90G	ENSP00000297819:S90G	S	+	1	0	C7orf45	129643079	0.035000	0.19736	0.002000	0.10522	0.006000	0.05464	1.590000	0.36654	1.052000	0.40392	0.482000	0.46254	AGC		0.408	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349768.1	NM_145268	
TPSD1	23430	mdanderson.org	37	16	1306802	1306802	+	Missense_Mutation	SNP	A	A	G	rs2401930		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:1306802A>G	ENST00000211076.3	+	3	407	c.259A>G	c.(259-261)Atc>Gtc	p.I87V	TPSD1_ENST00000397534.2_Missense_Mutation_p.I80V|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	87	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GCCCAGGGACATCAAGGATCT	0.677																																						.											0													38.0	44.0	42.0					16																	1306802		2199	4300	6499	SO:0001583	missense	23430			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.259A>G	16.37:g.1306802A>G	ENSP00000211076:p.Ile87Val	Somatic		WXS	Illumina HiSeq	Phase_I	O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	ENST00000211076.3	37	CCDS10432.1	.	.	.	.	.	.	.	.	.	.	-	1.310	-0.602401	0.03744	.	.	ENSG00000095917	ENST00000397534;ENST00000211076	T;T	0.81163	-1.46;-1.46	1.99	-3.36	0.04913	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.610560	0.03787	N	0.262191	T	0.59018	0.2163	N	0.03084	-0.415	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.48317	-0.9046	10	0.29301	T	0.29	.	8.2163	0.31514	0.6898:0.0:0.3102:0.0	rs2401930	87	Q9BZJ3	TRYD_HUMAN	V	80;87	ENSP00000380668:I80V;ENSP00000211076:I87V	ENSP00000211076:I87V	I	+	1	0	TPSD1	1246803	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-3.698000	0.00390	-1.469000	0.01890	-1.091000	0.02175	ATC		0.677	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2		
UMODL1	89766	mdanderson.org	37	21	43531403	43531403	+	Intron	SNP	C	C	G	rs220127	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr21:43531403C>G	ENST00000408910.2	+	11	1899				UMODL1_ENST00000400424.2_Intron|C21orf128_ENST00000329015.2_5'Flank|UMODL1_ENST00000408989.2_Missense_Mutation_p.R691G|UMODL1_ENST00000400427.1_Missense_Mutation_p.R619G	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1						adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCCCAGCCAGCGGAGCACCAG	0.731													G|||	3619	0.722644	0.4304	0.8343	5008	,	,		9993	0.881		0.8062	False		,,,				2504	0.7894				Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	.											0								-	,GLY/ARG,,GLY/ARG	2088,1402		642,804,299	4.0	7.0	6.0		,1855,,2071	-3.3	0.0	21	dbSNP_79	6	6286,1428		2593,1100,164	no	intron,missense,intron,missense	UMODL1	NM_001004416.2,NM_001199527.1,NM_001199528.2,NM_173568.3	,125,,125	3235,1904,463	GG,GC,CC		18.5118,40.1719,25.2588	,benign,,benign	,619/1375,,691/1447	43531403	8374,2830	1745	3857	5602	SO:0001627	intron_variant	89766				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1899+172C>G	21.37:g.43531403C>G		Somatic		WXS	Illumina HiSeq	Phase_I	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	CCDS42936.1	1618	0.7408424908424909	212	0.43089430894308944	295	0.8149171270718232	490	0.8566433566433567	621	0.8192612137203166	G	2.002	-0.429238	0.04701	0.598281	0.814882	ENSG00000177398	ENST00000400427;ENST00000408989	T;T	0.71461	-0.57;-0.37	2.16	-3.33	0.04958	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.34004	-0.9846	7	0.19590	T	0.45	.	2.0086	0.03482	0.2061:0.4652:0.166:0.1626	rs220127;rs520946	691	Q5DID0-2	.	G	619;691	ENSP00000383279:R619G;ENSP00000386126:R691G	ENSP00000383279:R619G	R	+	1	2	UMODL1	42404472	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.665000	0.05286	-1.264000	0.02452	-1.000000	0.02509	CGG		0.731	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2		
USP6	9098	mdanderson.org	37	17	5044784	5044784	+	Silent	SNP	T	T	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:5044784T>C	ENST00000574788.1	+	23	3793	c.1563T>C	c.(1561-1563)gaT>gaC	p.D521D	USP6_ENST00000332776.4_Silent_p.D521D|USP6_ENST00000250066.6_Silent_p.D521D|USP6_ENST00000304328.5_Silent_p.D204D			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	521					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GTAAAATAGATAGACAAAAGG	0.294			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	.		Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0													82.0	78.0	79.0					17																	5044784		2203	4295	6498	SO:0001819	synonymous_variant	9098			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1563T>C	17.37:g.5044784T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q15634|Q86WP6|Q8IWT4	Silent	SNP	ENST00000574788.1	37	CCDS11069.2																																																																																				0.294	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505	
ZNF628	89887	mdanderson.org	37	19	55995597	55995597	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:55995597G>A	ENST00000598519.1	+	3	3590	c.3037G>A	c.(3037-3039)Gcg>Acg	p.A1013T	NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000587400.1_5'Flank|ZNF628_ENST00000391718.2_Missense_Mutation_p.A1009T|NAT14_ENST00000205194.4_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	1013					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CTCGGGCCCCGCGGGGCTCCC	0.716																																						.											0													3.0	3.0	3.0					19																	55995597		1920	3767	5687	SO:0001583	missense	89887			AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.3037G>A	19.37:g.55995597G>A	ENSP00000469591:p.Ala1013Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	7.440	0.640533	0.14386	.	.	ENSG00000197483	ENST00000391718	T	0.07908	3.15	2.98	1.92	0.25849	.	0.899723	0.09173	N	0.838513	T	0.04407	0.0121	N	0.08118	0	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.41233	-0.9520	10	0.41790	T	0.15	-0.551	5.8577	0.18728	0.1534:0.0:0.8466:0.0	.	1009	Q5EBL2	ZN628_HUMAN	T	1009	ENSP00000375598:A1009T	ENSP00000375598:A1009T	A	+	1	0	ZNF628	60687409	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.543000	0.23237	0.601000	0.29879	0.472000	0.43445	GCG		0.716	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964	
ZSWIM4	65249	mdanderson.org	37	19	13936443	13936443	+	Silent	SNP	G	G	A	rs202144110	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:13936443G>A	ENST00000254323.2	+	11	2133	c.1944G>A	c.(1942-1944)gcG>gcA	p.A648A	ZSWIM4_ENST00000440752.2_Silent_p.A482A	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	648							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TTAAGCTGGCGCAGGACGCCT	0.662													G|||	3	0.000599042	0.0	0.0043	5008	,	,		15695	0.0		0.0	False		,,,				2504	0.0					.											0								G		0,4406		0,0,2203	63.0	65.0	65.0		1944	-7.8	0.9	19		65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZSWIM4	NM_023072.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		648/990	13936443	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	65249			AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.1944G>A	19.37:g.13936443G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000254323.2	37	CCDS32924.1																																																																																				0.662	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342	
ZNF835	90485	mdanderson.org	37	19	57175578	57175578	+	Missense_Mutation	SNP	C	C	T	rs12610410	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:57175578C>T	ENST00000537055.2	-	2	1220	c.989G>A	c.(988-990)gGc>gAc	p.G330D		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGGCTTCTCGCCTGTGTGGAT	0.706													.|||	598	0.119409	0.0817	0.0692	5008	,	,		17838	0.1667		0.1223	False		,,,				2504	0.1544					.											0								C	ASP/GLY	316,4088		23,270,1909	19.0	19.0	19.0		989	2.1	0.0	19	dbSNP_120	19	1177,7417		79,1019,3199	yes	missense	ZNF835	NM_001005850.2	94	102,1289,5108	TT,TC,CC		13.6956,7.1753,11.4864	probably-damaging	330/538	57175578	1493,11505	2202	4297	6499	SO:0001583	missense	90485			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.989G>A	19.37:g.57175578C>T	ENSP00000444747:p.Gly330Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	CCDS56105.1	263	0.12042124542124542	54	0.10975609756097561	25	0.06906077348066299	99	0.17307692307692307	85	0.11213720316622691	C	21.3	4.123991	0.77436	0.071753	0.136956	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.26660	1.72	2.12	2.12	0.27331	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00178	0.0005	M	0.64676	1.99	0.31405	P	0.676168	D	0.89917	1.0	D	0.85130	0.997	T	0.09707	-1.0662	8	0.66056	D	0.02	.	11.9519	0.52961	0.0:1.0:0.0:0.0	rs12610410	352	Q9Y2P0	ZN835_HUMAN	D	352;330	ENSP00000444747:G330D	ENSP00000341756:G352D	G	-	2	0	ZNF835	61867390	0.926000	0.31397	0.003000	0.11579	0.279000	0.26890	4.604000	0.61112	1.502000	0.48669	0.561000	0.74099	GGC		0.706	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850	
AXDND1	126859	bcgsc.ca	37	1	179494566	179494569	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	AAAG	AAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:179494566_179494569delAAAG	ENST00000367618.3	+	22	2981_2984	c.2594_2597delAAAG	c.(2593-2598)aaaaggfs	p.KR865fs		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	865	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GAGGAAAATAAAGAGAGAGCAGAA	0.358																																						.											0																																										SO:0001589	frameshift_variant	126859			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2594_2597delAAAG	1.37:g.179494566_179494569delAAAG	ENSP00000356590:p.Lys865fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q6AWB2|Q96LJ3|Q96M01	Frame_Shift_Del	DEL	ENST00000367618.3	37	CCDS30948.1																																																																																				0.358	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696	
MUC5B	727897	bcgsc.ca	37	11	1266716	1266716	+	Missense_Mutation	SNP	T	T	C	rs200243273	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:1266716T>C	ENST00000529681.1	+	31	8664	c.8606T>C	c.(8605-8607)aTg>aCg	p.M2869T	MUC5B_ENST00000447027.1_Missense_Mutation_p.M2872T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2869	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGGTGACCATGGGCTGTGAG	0.657													-|||	1477	0.294928	0.2284	0.2752	5008	,	,		10473	0.4812		0.2266	False		,,,				2504	0.2771					.											0													43.0	51.0	49.0					11																	1266716		1683	3765	5448	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.8606T>C	11.37:g.1266716T>C	ENSP00000436812:p.Met2869Thr	Somatic		WXS	Illumina HiSeq	Phase_I	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	1.479	-0.557829	0.03967	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.15718	2.4;2.59	1.67	-1.74	0.08056	.	.	.	.	.	T	0.05686	0.0149	N	0.02539	-0.55	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29882	-0.9997	8	0.87932	D	0	.	3.4419	0.07466	0.1749:0.468:0.0:0.3571	rs2860626;rs2943499;rs2943524;rs3965637	3452;2872	A7Y9J9;E9PBJ0	.;.	T	2869;2872;2841;2829	ENSP00000436812:M2869T;ENSP00000415793:M2872T	ENSP00000343037:M2841T	M	+	2	0	MUC5B	1223292	0.003000	0.15002	0.000000	0.03702	0.007000	0.05969	0.117000	0.15583	-1.035000	0.03291	-0.471000	0.05019	ATG		0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
JAM3	83700	bcgsc.ca	37	11	134009776	134009776	+	Missense_Mutation	SNP	C	C	A	rs143947882		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:134009776C>A	ENST00000299106.4	+	2	266	c.107C>A	c.(106-108)tCc>tAc	p.S36Y	JAM3_ENST00000529443.2_Missense_Mutation_p.S81Y|JAM3_ENST00000441717.3_Missense_Mutation_p.S36Y|JAM3_ENST00000524969.1_3'UTR			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	36	Ig-like V-type.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226)	cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	integrin binding (GO:0005178)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		AATCTCAAATCCAGCAATCGA	0.443											OREG0021547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													143.0	129.0	134.0					11																	134009776		2201	4297	6498	SO:0001583	missense	83700			AF356518	CCDS8494.1, CCDS55799.1, CCDS8494.2	11q25	2013-01-29			ENSG00000166086	ENSG00000166086		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15532	protein-coding gene	gene with protein product		606871					Standard	NM_032801		Approved	JAM-C, JAMC	uc001qhb.3	Q9BX67	OTTHUMG00000167130	ENST00000299106.4:c.107C>A	11.37:g.134009776C>A	ENSP00000299106:p.Ser36Tyr	Somatic	1607	WXS	Illumina HiSeq	Phase_I	B3KWG9|Q8WWL8|Q96FL1	Missense_Mutation	SNP	ENST00000299106.4	37	CCDS8494.2	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767039	0.69878	.	.	ENSG00000166086	ENST00000299106;ENST00000441717	T	0.81078	-1.45	5.52	5.52	0.82312	Immunoglobulin V-set (1);Immunoglobulin-like (1);	0.168514	0.53938	D	0.000048	D	0.89504	0.6734	M	0.72894	2.215	0.53005	D	0.999963	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	D	0.89775	0.3957	10	0.62326	D	0.03	.	19.4347	0.94786	0.0:1.0:0.0:0.0	.	36;36	B3KWG9;Q9BX67	.;JAM3_HUMAN	Y	81;36	ENSP00000395742:S36Y	ENSP00000299106:S81Y	S	+	2	0	JAM3	133514986	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	4.984000	0.63838	2.588000	0.87417	0.551000	0.68910	TCC		0.443	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393303.4	NM_032801	
TMPO	7112	bcgsc.ca	37	12	98931296	98931296	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:98931296G>T	ENST00000556029.1	+	4	965	c.609G>T	c.(607-609)aaG>aaT	p.K203N	TMPO_ENST00000393053.2_Missense_Mutation_p.K203N|TMPO_ENST00000261210.5_Missense_Mutation_p.K203N|TMPO_ENST00000343315.5_Missense_Mutation_p.K203N	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	203	NAKAP95-binding N.|Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AACCACTAAAGGGCAGAGCAA	0.383																																						.											0													94.0	88.0	90.0					12																	98931296		2203	4300	6503	SO:0001583	missense	7112				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.609G>T	12.37:g.98931296G>T	ENSP00000450627:p.Lys203Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024802	0.75390	.	.	ENSG00000120802	ENST00000556029;ENST00000343315;ENST00000393053;ENST00000261210;ENST00000556678	T;T;T;T;T	0.74632	-0.04;0.26;-0.21;-0.86;-0.81	5.56	1.19	0.21007	.	.	.	.	.	T	0.79185	0.4403	L	0.47716	1.5	0.27883	N	0.939617	D;D;D	0.76494	0.999;0.972;0.997	D;P;P	0.63488	0.915;0.724;0.879	T	0.70923	-0.4740	9	0.72032	D	0.01	.	11.5403	0.50663	0.3536:0.0:0.6464:0.0	.	236;203;203	Q59G12;P42167;A2T926	.;LAP2B_HUMAN;.	N	203;203;203;203;110	ENSP00000450627:K203N;ENSP00000340251:K203N;ENSP00000376773:K203N;ENSP00000261210:K203N;ENSP00000451552:K110N	ENSP00000261210:K203N	K	+	3	2	TMPO	97455427	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.399000	0.20916	0.320000	0.23234	0.650000	0.86243	AAG		0.383	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276	
RB1	5925	bcgsc.ca	37	13	49033916	49033916	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:49033916delC	ENST00000267163.4	+	20	2191	c.2053delC	c.(2053-2055)cagfs	p.Q685fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	685	Domain B.|Pocket; binds T and E1A.		Q -> P (in RB). {ECO:0000269|PubMed:7795591}.		androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)|p.Q685*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GACCCTTTTCCAGCACACCCT	0.458		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												.	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	28	Whole gene deletion(15)|Unknown(11)|Substitution - Nonsense(2)	bone(10)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|stomach(1)|liver(1)	GRCh37	CM016044	RB1	M							94.0	90.0	91.0					13																	49033916		2203	4300	6503	SO:0001589	frameshift_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2053delC	13.37:g.49033916delC	ENSP00000267163:p.Gln685fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	CCDS31973.1																																																																																				0.458	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
TPSD1	23430	bcgsc.ca	37	16	1306310	1306310	+	Missense_Mutation	SNP	G	G	A	rs201494832		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:1306310G>A	ENST00000211076.3	+	1	177	c.29G>A	c.(28-30)aGc>aAc	p.S10N	TPSD1_ENST00000397534.2_Missense_Mutation_p.S3N|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	10						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.S10I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				CAGATGCTGAGCCTGCTGCTG	0.687																																						.											1	Substitution - Missense(1)	lung(1)											49.0	61.0	57.0					16																	1306310		2198	4299	6497	SO:0001583	missense	23430			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.29G>A	16.37:g.1306310G>A	ENSP00000211076:p.Ser10Asn	Somatic		WXS	Illumina HiSeq	Phase_I	O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	ENST00000211076.3	37	CCDS10432.1	.	.	.	.	.	.	.	.	.	.	-	2.691	-0.273178	0.05716	.	.	ENSG00000095917	ENST00000397534;ENST00000211076	D;D	0.81659	-1.52;-1.52	1.99	-3.98	0.04082	.	2.982000	0.01241	N	0.008604	T	0.56396	0.1982	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45071	-0.9286	10	0.27082	T	0.32	.	1.6841	0.02838	0.2237:0.1778:0.4225:0.1761	.	10	Q9BZJ3	TRYD_HUMAN	N	3;10	ENSP00000380668:S3N;ENSP00000211076:S10N	ENSP00000211076:S10N	S	+	2	0	TPSD1	1246311	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-1.603000	0.02077	-1.789000	0.01264	-1.125000	0.01998	AGC		0.687	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2		
DOK6	220164	bcgsc.ca	37	18	67406218	67406218	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:67406218A>G	ENST00000382713.5	+	6	807	c.617A>G	c.(616-618)gAa>gGa	p.E206G	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	206	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GACACAGGAGAAGGACTATTC	0.428																																						.											0													154.0	151.0	152.0					18																	67406218		2203	4300	6503	SO:0001583	missense	220164			AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.617A>G	18.37:g.67406218A>G	ENSP00000372160:p.Glu206Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	ENST00000382713.5	37	CCDS32841.1	.	.	.	.	.	.	.	.	.	.	A	15.60	2.880649	0.51801	.	.	ENSG00000206052	ENST00000382713	D	0.85258	-1.96	6.17	6.17	0.99709	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.000000	0.85682	D	0.000000	D	0.93298	0.7864	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94001	0.7275	10	0.66056	D	0.02	-18.3736	16.0034	0.80327	1.0:0.0:0.0:0.0	.	206	Q6PKX4	DOK6_HUMAN	G	206	ENSP00000372160:E206G	ENSP00000372160:E206G	E	+	2	0	DOK6	65557198	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.160000	0.94734	2.371000	0.80710	0.533000	0.62120	GAA		0.428	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721	
ZNF799	90576	bcgsc.ca	37	19	12502787	12502787	+	Missense_Mutation	SNP	G	G	A	rs12974755	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:12502787G>A	ENST00000430385.3	-	4	625	c.425C>T	c.(424-426)aCg>aTg	p.T142M	CTD-3105H18.14_ENST00000435033.1_Intron|CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.T142M|ZNF799_ENST00000419318.1_Missense_Mutation_p.T110M	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTGTTTATGCGTATCTGGCTT	0.423													G|||	443	0.0884585	0.0174	0.0793	5008	,	,		22280	0.0585		0.1501	False		,,,				2504	0.1585					.											0								G	MET/THR	191,4215	123.7+/-161.0	5,181,2017	163.0	154.0	158.0		425	-0.8	0.0	19	dbSNP_121	158	1319,7281	260.2+/-283.1	101,1117,3082	no	missense	ZNF799	NM_001080821.2	81	106,1298,5099	AA,AG,GG		15.3372,4.335,11.61	possibly-damaging	142/644	12502787	1510,11496	2203	4300	6503	SO:0001583	missense	90576			BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.425C>T	19.37:g.12502787G>A	ENSP00000411084:p.Thr142Met	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000430385.3	37	CCDS45989.1	185	0.08470695970695971	11	0.022357723577235773	33	0.09116022099447514	26	0.045454545454545456	115	0.1517150395778364	G	11.07	1.529300	0.27387	0.04335	0.153372	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.08458	3.09;3.22	1.0	-0.771	0.11002	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00073	0.0002	M	0.64997	1.995	0.80722	P	0.0	D	0.65815	0.995	P	0.54060	0.741	T	0.16041	-1.0416	8	0.72032	D	0.01	.	6.2771	0.20987	0.0:0.0:0.6435:0.3565	rs12974755	142	Q96GE5	ZN799_HUMAN	M	110;142	ENSP00000415278:T110M;ENSP00000411084:T142M	ENSP00000415278:T110M	T	-	2	0	ZNF799	12363787	0.001000	0.12720	0.005000	0.12908	0.287000	0.27160	-0.024000	0.12435	-0.311000	0.08754	0.430000	0.28490	ACG		0.423	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821	
ZFP36	7538	bcgsc.ca	37	19	39899072	39899072	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:39899072delC	ENST00000248673.3	+	2	772	c.714delC	c.(712-714)accfs	p.T238fs	MIR4530_ENST00000581459.1_RNA|ZFP36_ENST00000597629.1_Frame_Shift_Del_p.T244fs	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	238					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCCTGGCACCCCCCTGGCTC	0.682																																					NSCLC(67;1164 1324 12056 21056 30097)	.											0													35.0	40.0	39.0					19																	39899072		2202	4300	6502	SO:0001589	frameshift_variant	7538			M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.714delC	19.37:g.39899072delC	ENSP00000248673:p.Thr238fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RA54	Frame_Shift_Del	DEL	ENST00000248673.3	37																																																																																					0.682	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
FAM178B	51252	bcgsc.ca	37	2	97568436	97568436	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:97568436C>T	ENST00000417561.3	-	17	2014	c.2015G>A	c.(2014-2016)cGa>cAa	p.R672Q	FAM178B_ENST00000327896.3_Missense_Mutation_p.R492Q|FAM178B_ENST00000490605.2_Missense_Mutation_p.R524Q			Q8IXR5	F178B_HUMAN	family with sequence similarity 178, member B	672										large_intestine(1)|ovary(1)	2						GAGCTGGCTTCGAAGCCGCCT	0.617																																						.											0													37.0	38.0	38.0					2																	97568436		692	1591	2283	SO:0001583	missense	51252			AF151068, BC039488	CCDS33252.1, CCDS46366.1, CCDS46366.2	2q11.2	2008-08-08			ENSG00000168754	ENSG00000168754			28036	protein-coding gene	gene with protein product						11042152	Standard	NM_001122646		Approved	LOC51252	uc002sxl.4	Q8IXR5	OTTHUMG00000155257	ENST00000417561.3:c.2015G>A	2.37:g.97568436C>T	ENSP00000413245:p.Arg672Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A8MXN2|E9PD86|Q8IUY0|Q9P0P4	Missense_Mutation	SNP	ENST00000417561.3	37		.	.	.	.	.	.	.	.	.	.	C	24.6	4.553217	0.86127	.	.	ENSG00000168754	ENST00000417561;ENST00000327896;ENST00000490605	T;T;T	0.57595	0.39;0.42;0.4	5.42	5.42	0.78866	.	.	.	.	.	T	0.63663	0.2530	M	0.64404	1.975	0.29515	N	0.853893	.	.	.	.	.	.	T	0.64249	-0.6452	7	0.72032	D	0.01	-5.6676	14.7261	0.69346	0.0:1.0:0.0:0.0	.	.	.	.	Q	672;492;524	ENSP00000413245:R672Q;ENSP00000333553:R492Q;ENSP00000429896:R524Q	ENSP00000333553:R492Q	R	-	2	0	FAM178B	96932163	1.000000	0.71417	0.988000	0.46212	0.865000	0.49528	3.512000	0.53407	2.547000	0.85894	0.561000	0.74099	CGA		0.617	FAM178B-202	KNOWN	basic	protein_coding	protein_coding		NM_016490	
COBLL1	22837	bcgsc.ca	37	2	165578973	165578973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:165578973delA	ENST00000392717.2	-	6	839	c.835delT	c.(835-837)ttcfs	p.F279fs	COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000342193.4_Frame_Shift_Del_p.F241fs|COBLL1_ENST00000409184.3_Frame_Shift_Del_p.F279fs|COBLL1_ENST00000375458.2_Frame_Shift_Del_p.F241fs|COBLL1_ENST00000194871.6_Frame_Shift_Del_p.F307fs			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	279						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AAAAAACTGAAAAACCCTTTA	0.284																																						.											0													63.0	69.0	67.0					2																	165578973		2202	4299	6501	SO:0001589	frameshift_variant	22837			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.835delT	2.37:g.165578973delA	ENSP00000376478:p.Phe279fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Frame_Shift_Del	DEL	ENST00000392717.2	37																																																																																					0.284	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900	
PTPN13	5783	bcgsc.ca	37	4	87728796	87728796	+	Missense_Mutation	SNP	T	T	C	rs199502086		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:87728796T>C	ENST00000411767.2	+	45	6892	c.6829T>C	c.(6829-6831)Ttc>Ctc	p.F2277L	PTPN13_ENST00000316707.6_Missense_Mutation_p.F2086L|PTPN13_ENST00000511467.1_Missense_Mutation_p.F2282L|PTPN13_ENST00000436978.1_Missense_Mutation_p.F2282L|PTPN13_ENST00000427191.2_Missense_Mutation_p.F2258L			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2277	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GAAAGAAGAGTTCGTTTACAT	0.448																																						.											0													185.0	176.0	179.0					4																	87728796		1916	4122	6038	SO:0001583	missense	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.6829T>C	4.37:g.87728796T>C	ENSP00000407249:p.Phe2277Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.900210	0.52227	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71	5.48	5.48	0.80851	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.48286	D	0.000187	T	0.68742	0.3034	N	0.12182	0.205	0.44477	D	0.997416	B;B;B;B	0.30914	0.11;0.162;0.3;0.255	B;B;B;B	0.28465	0.026;0.054;0.09;0.054	T	0.66956	-0.5792	10	0.16896	T	0.51	.	15.5763	0.76392	0.0:0.0:0.0:1.0	.	2086;2258;2277;2282	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	L	2258;2282;2086;2277;2282;2226	ENSP00000408368:F2258L;ENSP00000394794:F2282L;ENSP00000322675:F2086L;ENSP00000407249:F2277L;ENSP00000426626:F2282L	ENSP00000322675:F2086L	F	+	1	0	PTPN13	87947820	1.000000	0.71417	0.831000	0.32960	0.978000	0.69477	6.141000	0.71744	2.075000	0.62263	0.528000	0.53228	TTC		0.448	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1		
HAVCR1	26762	bcgsc.ca	37	5	156479590	156479590	+	Missense_Mutation	SNP	G	G	A	rs114193906		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:156479590G>A	ENST00000339252.3	-	3	987	c.455C>T	c.(454-456)aCg>aTg	p.T152M	HAVCR1_ENST00000523175.1_Missense_Mutation_p.T152M|HAVCR1_ENST00000522693.1_Missense_Mutation_p.T152M|HAVCR1_ENST00000544197.1_Missense_Mutation_p.T152M|HAVCR1_ENST00000425854.1_Missense_Mutation_p.T152M	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTCGTTGTCGTTGGAACAGT	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		22839	0.0		0.001	False		,,,				2504	0.0					.											0													508.0	503.0	504.0					5																	156479590		2150	4237	6387	SO:0001583	missense	26762			AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.455C>T	5.37:g.156479590G>A	ENSP00000344844:p.Thr152Met	Somatic		WXS	Illumina HiSeq	Phase_I	O43656	Missense_Mutation	SNP	ENST00000339252.3	37	CCDS43392.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	6.801	0.516799	0.13005	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197;ENST00000518745	T;T;T;T;T;T	0.19669	2.13;2.15;2.15;2.13;2.15;2.15	2.39	0.387	0.16259	.	.	.	.	.	T	0.07863	0.0197	N	0.08118	0	0.09310	N	1	P;P	0.45634	0.863;0.863	B;B	0.38296	0.27;0.27	T	0.15723	-1.0427	9	0.48119	T	0.1	.	1.2062	0.01895	0.1451:0.2204:0.4103:0.2241	.	152;152	F1CME6;Q96D42	.;HAVR1_HUMAN	M	152	ENSP00000428524:T152M;ENSP00000427898:T152M;ENSP00000344844:T152M;ENSP00000403333:T152M;ENSP00000440258:T152M;ENSP00000428422:T152M	ENSP00000344844:T152M	T	-	2	0	HAVCR1	156412168	0.033000	0.19621	0.000000	0.03702	0.024000	0.10985	-0.082000	0.11304	-0.069000	0.12931	0.404000	0.27445	ACG		0.473	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1		
GABRA6	2559	bcgsc.ca	37	5	161119027	161119027	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:161119027A>G	ENST00000274545.5	+	8	1340	c.907A>G	c.(907-909)Atg>Gtg	p.M303V	GABRA6_ENST00000523217.1_Missense_Mutation_p.M293V|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	303					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TGCCACTGCCATGGATTGGTT	0.438										TCGA Ovarian(5;0.080)																												.											0													161.0	137.0	145.0					5																	161119027		2203	4300	6503	SO:0001583	missense	2559				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.907A>G	5.37:g.161119027A>G	ENSP00000274545:p.Met303Val	Somatic		WXS	Illumina HiSeq	Phase_I	A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.627125	0.87560	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.85955	-2.05;-2.05	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.88808	0.6537	L	0.38733	1.17	0.58432	D	0.999994	D	0.76494	0.999	D	0.85130	0.997	D	0.90200	0.4256	10	0.87932	D	0	.	15.2799	0.73773	1.0:0.0:0.0:0.0	.	303	Q16445	GBRA6_HUMAN	V	303;293	ENSP00000274545:M303V;ENSP00000430527:M293V	ENSP00000274545:M303V	M	+	1	0	GABRA6	161051605	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.228000	0.95250	1.997000	0.58415	0.528000	0.53228	ATG		0.438	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2		
MICB	4277	bcgsc.ca	37	6	31475183	31475183	+	Missense_Mutation	SNP	C	C	T	rs45470602	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:31475183C>T	ENST00000252229.6	+	5	978	c.899C>T	c.(898-900)gCg>gTg	p.A300V	MICB_ENST00000399150.3_Missense_Mutation_p.A257V|MICB_ENST00000538442.1_Missense_Mutation_p.A268V	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B											NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						TCAGGGAAGGCGCTGGTGCTT	0.498													c|||	12	0.00239617	0.0083	0.0	5008	,	,		21752	0.0		0.001	False		,,,				2504	0.0					.											0								C	VAL/ALA	31,3891		0,31,1930	127.0	127.0	127.0		899	-0.7	0.0	6	dbSNP_127	127	0,8294		0,0,4147	yes	missense	MICB	NM_005931.3	64	0,31,6077	TT,TC,CC		0.0,0.7904,0.2538	benign	300/384	31475183	31,12185	1961	4147	6108	SO:0001583	missense	4277				CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"""Immunoglobulin superfamily / C1-set domain containing"""	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.899C>T	6.37:g.31475183C>T	ENSP00000252229:p.Ala300Val	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000252229.6	37	CCDS43449.1	5	0.0022893772893772895	4	0.008130081300813009	0	0.0	0	0.0	1	0.0013192612137203166	-	0.014	-1.587280	0.00872	0.007904	0.0	ENSG00000204516	ENST00000538442;ENST00000399150;ENST00000252229	T;T;T	0.00816	5.66;5.78;5.76	1.33	-0.662	0.11413	.	.	.	.	.	T	0.00241	0.0007	.	.	.	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.002	T	0.29336	-1.0015	8	0.28530	T	0.3	.	4.7187	0.12909	0.0:0.674:0.0:0.326	rs45470602	268;257	F5H7Q8;A2AC57	.;.	V	268;257;300	ENSP00000442345:A268V;ENSP00000382103:A257V;ENSP00000252229:A300V	ENSP00000252229:A300V	A	+	2	0	MICB	31583162	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.586000	0.05787	-0.269000	0.09298	-1.358000	0.01219	GCG		0.498	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3	NM_005931	
SCML4	256380	bcgsc.ca	37	6	108042039	108042039	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:108042039C>T	ENST00000369020.3	-	6	1086	c.841G>A	c.(841-843)Ggt>Agt	p.G281S	SCML4_ENST00000369025.2_Missense_Mutation_p.G39S|SCML4_ENST00000369022.2_Missense_Mutation_p.G223S|SCML4_ENST00000479803.1_5'UTR|SCML4_ENST00000369021.3_Missense_Mutation_p.G252S	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	281					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GCAGGACCACCCCCAAGGTGG	0.662																																						.											0													43.0	50.0	48.0					6																	108042039		2203	4300	6503	SO:0001583	missense	256380				CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"""Sterile alpha motif (SAM) domain containing"""	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.841G>A	6.37:g.108042039C>T	ENSP00000358016:p.Gly281Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	ENST00000369020.3	37	CCDS5060.2	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639946	0.29157	.	.	ENSG00000146285	ENST00000369022;ENST00000369025;ENST00000369020;ENST00000369021	T;T;T	0.44881	0.98;0.97;0.91	5.19	2.27	0.28462	.	0.436668	0.25349	N	0.031310	T	0.36936	0.0985	L	0.56769	1.78	0.45464	D	0.99843	D;B;D	0.76494	0.993;0.027;0.999	P;B;D	0.68943	0.751;0.016;0.961	T	0.42207	-0.9465	10	0.07644	T	0.81	.	11.4501	0.50147	0.0:0.7746:0.0:0.2254	.	281;281;252	B4E0X3;Q8N228;Q8N228-3	.;SCML4_HUMAN;.	S	223;39;281;252	ENSP00000358018:G223S;ENSP00000358016:G281S;ENSP00000358017:G252S	ENSP00000358016:G281S	G	-	1	0	SCML4	108148732	0.909000	0.30893	0.119000	0.21687	0.410000	0.31052	1.673000	0.37534	0.785000	0.33685	-0.133000	0.14855	GGT		0.662	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128	
UBN2	254048	bcgsc.ca	37	7	138969009	138969011	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	CAG	CAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:138969009_138969011delCAG	ENST00000473989.3	+	15	3358_3360	c.3358_3360delCAG	c.(3358-3360)cagdel	p.Q1120del	UBN2_ENST00000288561.8_In_Frame_Del_p.Q1037del	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1120	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AATGAACATCAGCAGACAGTCTC	0.488																																						.											0																																										SO:0001651	inframe_deletion	254048			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3358_3360delCAG	7.37:g.138969009_138969011delCAG	ENSP00000418648:p.Gln1120del	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	In_Frame_Del	DEL	ENST00000473989.3	37	CCDS43655.2																																																																																				0.488	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569	
ARHGEF39	84904	bcgsc.ca	37	9	35664389	35664390	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:35664389_35664390delCT	ENST00000378387.3	-	3	450_451	c.333_334delAG	c.(331-336)gaagggfs	p.G112fs	ARHGEF39_ENST00000343259.3_Frame_Shift_Del_p.G112fs|ARHGEF39_ENST00000378395.2_Frame_Shift_Del_p.G76fs|ARHGEF39_ENST00000490970.1_5'UTR	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	112	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)										GTCTGGGACCTCTCTGAGTTGG	0.55																																						.											0																																										SO:0001589	frameshift_variant	84904			AK001187	CCDS6584.2	9p13.3	2012-08-08	2012-08-08	2012-08-08	ENSG00000137135	ENSG00000137135			25909	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 100"""	C9orf100		22327280	Standard	XR_242516		Approved	FLJ14642	uc003zxm.1	Q8N4T4	OTTHUMG00000019869	ENST00000378387.3:c.333_334delAG	9.37:g.35664389_35664390delCT	ENSP00000367638:p.Gly112fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q49AG0|Q6TPQ2|Q96ST6	Frame_Shift_Del	DEL	ENST00000378387.3	37	CCDS6584.2																																																																																				0.550	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052330.1	NM_032818	
MURC	347273	bcgsc.ca	37	9	103348063	103348063	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:103348063C>T	ENST00000307584.5	+	2	490	c.425C>T	c.(424-426)cCg>cTg	p.P142L		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	142					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				TTTCGGTGTCCGACATCCCTG	0.423																																						.											0													54.0	51.0	52.0					9																	103348063		2203	4300	6503	SO:0001583	missense	347273			BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"""muscle-restricted coiled-coil protein"""					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.425C>T	9.37:g.103348063C>T	ENSP00000418668:p.Pro142Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B1PRL3|B4DT88	Missense_Mutation	SNP	ENST00000307584.5	37	CCDS35083.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401722	0.62288	.	.	ENSG00000170681	ENST00000307584	T	0.65732	-0.17	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.79155	0.4398	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.82155	-0.0597	10	0.87932	D	0	-6.8673	16.0689	0.80909	0.0:1.0:0.0:0.0	.	142	Q5BKX8	MURC_HUMAN	L	142	ENSP00000418668:P142L	ENSP00000418668:P142L	P	+	2	0	MURC	102387884	0.996000	0.38824	0.588000	0.28705	0.704000	0.40688	3.603000	0.54074	2.463000	0.83235	0.561000	0.74099	CCG		0.423	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116	
MSH6	2956	bcgsc.ca	37	2	48030692	48030693	+	Frame_Shift_Ins	INS	-	-	T	rs267608092|rs267608093|rs2020910	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:48030692_48030693insT	ENST00000234420.5	+	5	3458_3459	c.3306_3307insT	c.(3307-3309)tttfs	p.F1103fs	MSH6_ENST00000540021.1_Frame_Shift_Ins_p.F973fs|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Frame_Shift_Ins_p.F801fs	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1103					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTACGAAGACTTTTTTTGGAGA	0.45			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													.	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)																																								SO:0001589	frameshift_variant	2956	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3312dupT	2.37:g.48030698_48030698dupT	ENSP00000234420:p.Phe1103fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Frame_Shift_Ins	INS	ENST00000234420.5	37	CCDS1836.1																																																																																				0.450	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179	
