#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
LYPLA2	11313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	1	24122442	24122442	+	IGR	SNP	G	G	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr1:24122442G>A	ENST00000374514.3	+	0	1810				GALE_ENST00000374497.3_Silent_p.A348A|GALE_ENST00000470383.1_5'Flank	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II						fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		AGGGTCCTCAGGCTTGCGTGC	0.627																																						.											0													39.0	39.0	39.0					1																	24122442		2203	4300	6503	SO:0001628	intergenic_variant	2582			AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961		1.37:g.24122442G>A			Q7Z4Z2	Silent	SNP	ENST00000374514.3	37	CCDS241.1																																																																																				0.627	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1		
RNF115	27246	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	145687066	145687066	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr1:145687066G>A	ENST00000369291.5	+	8	962	c.758G>A	c.(757-759)aGt>aAt	p.S253N		NM_014455.2	NP_055270.1			ring finger protein 115											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						TTTCACAGCAGTTGTATTGTG	0.438																																						.											0													170.0	142.0	151.0					1																	145687066		2203	4300	6503	SO:0001583	missense	27246			AF419857	CCDS72863.1	1q12	2013-01-09	2008-06-16	2008-06-16	ENSG00000121848	ENSG00000265491		"""RING-type (C3HC4) zinc fingers"""	18154	protein-coding gene	gene with protein product			"""zinc finger protein 364"""	ZNF364			Standard	NM_014455		Approved	CL469780	uc001eoj.3	Q9Y4L5	OTTHUMG00000013758	ENST00000369291.5:c.758G>A	1.37:g.145687066G>A	ENSP00000358297:p.Ser253Asn			Missense_Mutation	SNP	ENST00000369291.5	37	CCDS922.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795342	0.50208	.	.	ENSG00000121848	ENST00000369291	T	0.44881	0.91	5.27	5.27	0.74061	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.155609	0.56097	D	0.000021	T	0.15349	0.0370	L	0.31664	0.95	0.30814	N	0.7385	B	0.24317	0.101	B	0.25506	0.061	T	0.04796	-1.0926	10	0.30854	T	0.27	-1.0535	9.7448	0.40440	0.0909:0.0:0.9091:0.0	.	253	Q9Y4L5	RN115_HUMAN	N	253	ENSP00000358297:S253N	ENSP00000358297:S253N	S	+	2	0	RNF115	144398423	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	3.496000	0.53288	2.748000	0.94277	0.655000	0.94253	AGT		0.438	RNF115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038554.2	NM_014455	
ERBB3	2065	hgsc.bcm.edu;mdanderson.org	37	12	56491706	56491706	+	Silent	SNP	G	G	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr12:56491706G>A	ENST00000267101.3	+	21	3038	c.2598G>A	c.(2596-2598)ctG>ctA	p.L866L	ERBB3_ENST00000553131.1_Silent_p.L107L|ERBB3_ENST00000549832.1_5'Flank|ERBB3_ENST00000415288.2_Silent_p.L807L|ERBB3_ENST00000450146.2_Silent_p.L223L	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	866	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			ATAAGCAGCTGCTATACAGTG	0.567																																						.											0													111.0	94.0	100.0					12																	56491706		2203	4300	6503	SO:0001819	synonymous_variant	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.2598G>A	12.37:g.56491706G>A			A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Silent	SNP	ENST00000267101.3	37	CCDS31833.1																																																																																				0.567	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3		
PHLDA1	22822	hgsc.bcm.edu	37	12	76424940	76424940	+	Silent	SNP	C	C	T	rs549868413|rs57875368|rs111754051|rs71716769|rs80344196|rs398020175	byFrequency	TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr12:76424940C>T	ENST00000266671.5	-	1	2772	c.582G>A	c.(580-582)caG>caA	p.Q194Q	RP11-290L1.2_ENST00000547721.1_RNA|PHLDA1_ENST00000602540.1_Silent_p.Q53Q|RP11-290L1.3_ENST00000552367.1_RNA			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	194	PH.|Poly-Gln.				apoptotic process (GO:0006915)|FasL biosynthetic process (GO:0045210)|forebrain neuron differentiation (GO:0021879)|positive regulation of apoptotic process (GO:0043065)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				gctgctgttgctgctgctgct	0.652																																						.											0													4.0	4.0	4.0					12																	76424940		2019	3942	5961	SO:0001819	synonymous_variant	22822			Z50194	CCDS31861.1	12q15	2008-08-05				ENSG00000139289			8933	protein-coding gene	gene with protein product	"""proline-histidine rich protein"""	605335				12384558, 15037619	Standard	NM_007350		Approved	TDAG51, DT1P1B11, PHRIP	uc001sxu.3	Q8WV24		ENST00000266671.5:c.582G>A	12.37:g.76424940C>T			A1A4G9|Q15184|Q2TAN2|Q9NZ17	Silent	SNP	ENST00000266671.5	37	CCDS31861.1																																																																																				0.652	PHLDA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405846.2	NM_007350	
FMN1	342184	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	33359287	33359287	+	Intron	SNP	C	C	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr15:33359287C>T	ENST00000559047.1	-	3	2043				FMN1_ENST00000559150.1_Intron|FMN1_ENST00000334528.9_Missense_Mutation_p.G267R|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000558197.1_Missense_Mutation_p.G267R			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GACTTCTCTCCAGAGACTTCT	0.493																																						.											0													76.0	78.0	77.0					15																	33359287		1888	4134	6022	SO:0001627	intron_variant	342184			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-2012G>A	15.37:g.33359287C>T			Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37		.	.	.	.	.	.	.	.	.	.	C	13.10	2.136600	0.37728	.	.	ENSG00000248905	ENST00000334528	T	0.40225	1.04	5.59	5.59	0.84812	.	.	.	.	.	T	0.46521	0.1397	.	.	.	.	.	.	D;D	0.56746	0.977;0.96	P;P	0.56648	0.803;0.509	T	0.51052	-0.8754	7	0.18710	T	0.47	.	9.5269	0.39169	0.0:0.8054:0.0:0.1946	.	267;267	Q68DA7-3;Q68DA7-5	.;.	R	267	ENSP00000333950:G267R	ENSP00000333950:G267R	G	-	1	0	FMN1	31146579	0.427000	0.25514	0.990000	0.47175	0.797000	0.45037	2.091000	0.41691	2.645000	0.89757	0.655000	0.94253	GGA		0.493	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184	
WDR72	256764	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	53997272	53997272	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr15:53997272A>G	ENST00000396328.1	-	11	1500	c.1261T>C	c.(1261-1263)Tgt>Cgt	p.C421R	WDR72_ENST00000559418.1_Missense_Mutation_p.C431R|WDR72_ENST00000557913.1_Missense_Mutation_p.C418R|WDR72_ENST00000360509.5_Missense_Mutation_p.C421R	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	421										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TCACAGCCACATATTAGTTTA	0.393																																						.											0													130.0	130.0	130.0					15																	53997272		2194	4293	6487	SO:0001583	missense	256764			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1261T>C	15.37:g.53997272A>G	ENSP00000379619:p.Cys421Arg		Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	A	19.68	3.872904	0.72180	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.17054	2.3;2.3	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.43144	0.1234	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.42430	-0.9452	10	0.87932	D	0	.	15.0651	0.71986	1.0:0.0:0.0:0.0	.	421	Q3MJ13	WDR72_HUMAN	R	421	ENSP00000379619:C421R;ENSP00000353699:C421R	ENSP00000353699:C421R	C	-	1	0	WDR72	51784564	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.176000	0.77643	2.158000	0.67659	0.377000	0.23210	TGT		0.393	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758	
ADAMTS7	11173	hgsc.bcm.edu	37	15	79058942	79058944	+	In_Frame_Del	DEL	GCA	GCA	-	rs529497330|rs201562030|rs543268667	byFrequency	TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	GCA	GCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr15:79058942_79058944delGCA	ENST00000388820.4	-	19	3519_3521	c.3309_3311delTGC	c.(3307-3312)gctgcg>gcg	p.1103_1104AA>A	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1103					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CGTGGAGGGCGCAGCAGGATGGC	0.675																																						.											0																																										SO:0001651	inframe_deletion	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3309_3311delTGC	15.37:g.79058945_79058947delGCA	ENSP00000373472:p.Ala1104del		Q14F51|Q6P7J9	In_Frame_Del	DEL	ENST00000388820.4	37	CCDS32303.1																																																																																				0.675	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272	
SLC9A5	6553	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	16	67293560	67293560	+	Missense_Mutation	SNP	C	C	A	rs575139681		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr16:67293560C>A	ENST00000299798.11	+	11	1776	c.1711C>A	c.(1711-1713)Ctg>Atg	p.L571M	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	571					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TGTCACCAACCTGCTGTGAGT	0.547																																						.											0													78.0	81.0	80.0					16																	67293560		2064	4212	6276	SO:0001583	missense	6553				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1711C>A	16.37:g.67293560C>A	ENSP00000299798:p.Leu571Met		A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.325050	0.60634	.	.	ENSG00000135740	ENST00000299798;ENST00000360183	T	0.59083	0.29	4.82	3.87	0.44632	.	0.379430	0.25040	N	0.033618	T	0.66790	0.2825	L	0.50333	1.59	0.38161	D	0.939038	D;P	0.71674	0.998;0.94	D;P	0.63381	0.914;0.459	T	0.71666	-0.4524	10	0.56958	D	0.05	.	12.565	0.56304	0.0:0.9194:0.0:0.0806	.	59;571	F8WDV9;Q14940	.;SL9A5_HUMAN	M	571;59	ENSP00000299798:L571M	ENSP00000299798:L571M	L	+	1	2	SLC9A5	65851061	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	2.945000	0.49043	1.408000	0.46895	-0.379000	0.06801	CTG		0.547	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1		
PLEKHM1	9842	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	43531447	43531447	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr17:43531447C>G	ENST00000430334.3	-	7	1904	c.1771G>C	c.(1771-1773)Gat>Cat	p.D591H	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.D502H|AC091132.1_ENST00000433601.1_RNA	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	591	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					AAGCGCCCATCACTATGGGCT	0.647																																						.											0													48.0	45.0	46.0					17																	43531447		2203	4300	6503	SO:0001583	missense	9842			X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.1771G>C	17.37:g.43531447C>G	ENSP00000389913:p.Asp591His		Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768899	0.49680	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.32515	1.45;1.45	4.8	4.8	0.61643	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.105214	0.64402	D	0.000005	T	0.44891	0.1315	L	0.29908	0.895	0.47737	D	0.999506	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.994	T	0.44832	-0.9302	10	0.72032	D	0.01	.	16.6534	0.85222	0.0:1.0:0.0:0.0	.	502;540;591	F8W648;B4DRX1;Q9Y4G2	.;.;PKHM1_HUMAN	H	591;540;502	ENSP00000389913:D591H;ENSP00000414352:D502H	ENSP00000414352:D502H	D	-	1	0	PLEKHM1	40887230	1.000000	0.71417	0.804000	0.32291	0.044000	0.14063	7.240000	0.78192	2.514000	0.84764	0.586000	0.80456	GAT		0.647	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798	
AFF3	3899	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	2	100167950	100167950	+	Missense_Mutation	SNP	C	C	T	rs138104794		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr2:100167950C>T	ENST00000409236.2	-	23	3779	c.3667G>A	c.(3667-3669)Gcc>Acc	p.A1223T	AFF3_ENST00000356421.2_Missense_Mutation_p.A1248T|AFF3_ENST00000317233.4_Missense_Mutation_p.A1223T|AFF3_ENST00000409579.1_Missense_Mutation_p.A1248T			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1223					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						GACAGGTGGGCGCTGTTCCGC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		16134	0.0		0.001	False		,,,				2504	0.0					.											0								C	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	37.0	36.0	36.0		3742,3667	-11.6	0.1	2	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	AFF3	NM_001025108.1,NM_002285.2	58,58	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	1248/1252,1223/1227	100167950	2,13004	2203	4300	6503	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.3667G>A	2.37:g.100167950C>T	ENSP00000387207:p.Ala1223Thr		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	CCDS42723.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.46	2.839305	0.51057	2.27E-4	1.16E-4	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	6.17	-11.6	0.00059	.	0.703668	0.14247	N	0.331667	T	0.43055	0.1230	N	0.12569	0.235	0.27833	N	0.941366	B;B	0.15719	0.014;0.006	B;B	0.19946	0.027;0.003	T	0.23226	-1.0194	10	0.23891	T	0.37	.	20.6491	0.99593	0.0:0.3068:0.0:0.6932	.	1223;1248	P51826;P51826-2	AFF3_HUMAN;.	T	1223;1248;1248;1223	ENSP00000317421:A1223T;ENSP00000348793:A1248T;ENSP00000386834:A1248T;ENSP00000387207:A1223T	ENSP00000317421:A1223T	A	-	1	0	AFF3	99534382	0.004000	0.15560	0.050000	0.19076	0.966000	0.64601	-0.867000	0.04241	-2.907000	0.00309	-0.812000	0.03155	GCC		0.612	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285	
AIFM1	9131	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	129281737	129281737	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chrX:129281737G>A	ENST00000287295.3	-	4	694	c.464C>T	c.(463-465)cCt>cTt	p.P155L	AIFM1_ENST00000535724.1_Missense_Mutation_p.P68L|AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000319908.3_Missense_Mutation_p.P151L	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	155	FAD-dependent oxidoreductase. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	CCTGGCCCCAGGATCCCGAGC	0.502																																						.											0													113.0	104.0	107.0					X																	129281737		2203	4300	6503	SO:0001583	missense	9131			AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.464C>T	X.37:g.129281737G>A	ENSP00000287295:p.Pro155Leu		A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	G	32	5.132328	0.94473	.	.	ENSG00000156709	ENST00000319908;ENST00000535724;ENST00000287295	D;D;D	0.85013	-1.93;-1.93;-1.93	5.55	5.55	0.83447	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.91862	0.7424	M	0.85373	2.75	0.80722	D	1	D;D;D	0.63880	0.991;0.993;0.991	D;D;D	0.63877	0.913;0.919;0.913	D	0.89790	0.3967	10	0.12430	T	0.62	-9.0643	18.5251	0.90969	0.0:0.0:1.0:0.0	.	155;151;155	Q1L6K6;O95831-3;O95831	.;.;AIFM1_HUMAN	L	151;68;155	ENSP00000315122:P151L;ENSP00000446113:P68L;ENSP00000287295:P155L	ENSP00000287295:P155L	P	-	2	0	AIFM1	129109418	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.401000	0.97294	2.317000	0.78254	0.544000	0.68410	CCT		0.502	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2		
MAMLD1	10046	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	X	149638778	149638778	+	Silent	SNP	A	A	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chrX:149638778A>T	ENST00000370401.2	+	4	1243	c.933A>T	c.(931-933)gcA>gcT	p.A311A	MAMLD1_ENST00000426613.2_Silent_p.A286A|MAMLD1_ENST00000432680.2_Silent_p.A286A|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000262858.5_Silent_p.A311A			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	311					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AGGCGTTGGCAGCCAGCAAGC	0.637																																						.											0													80.0	57.0	65.0					X																	149638778		2203	4300	6503	SO:0001819	synonymous_variant	10046			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.933A>T	X.37:g.149638778A>T			B2RCQ4|B4DG93|B9EGA5	Silent	SNP	ENST00000370401.2	37	CCDS14693.2																																																																																				0.637	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491	
RBMS1	5937	broad.mit.edu;hgsc.bcm.edu	37	2	161135123	161135123	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr2:161135123G>T	ENST00000348849.3	-	11	1428	c.998C>A	c.(997-999)cCc>cAc	p.P333H	RBMS1_ENST00000392753.3_Missense_Mutation_p.P346H|RBMS1_ENST00000409075.1_Missense_Mutation_p.P297H|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409972.1_Missense_Mutation_p.P297H|RBMS1_ENST00000409289.2_Missense_Mutation_p.P297H	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	333					DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								CATTGATGCGGGCTGTAGTGA	0.493											OREG0015036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													114.0	97.0	103.0					2																	161135123		2203	4298	6501	SO:0001583	missense	5937			D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"""RNA binding motif (RRM) containing"""	9907	protein-coding gene	gene with protein product	"""suppressor of cdc 2 (cdc13) with RNA binding motif 2"", ""c-myc gene single strand binding protein 2"""	602310	"""chromosome 2 open reading frame 12"""	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.998C>A	2.37:g.161135123G>T	ENSP00000294904:p.Pro333His	1814	Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Missense_Mutation	SNP	ENST00000348849.3	37	CCDS2213.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144459	0.77888	.	.	ENSG00000153250	ENST00000348849;ENST00000409075;ENST00000409289;ENST00000392753;ENST00000409972	T;T;T;T;T	0.30981	1.54;1.8;1.8;1.51;1.8	6.08	6.08	0.98989	.	0.092424	0.85682	D	0.000000	T	0.58509	0.2127	M	0.72353	2.195	0.80722	D	1	D;P;D;D;D;D	0.76494	0.999;0.458;0.995;0.999;0.998;0.996	D;B;P;D;D;D	0.73380	0.973;0.212;0.874;0.98;0.966;0.923	T	0.56842	-0.7912	10	0.72032	D	0.01	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	212;333;330;215;297;346	Q5CZ65;P29558;P29558-2;Q5CZ66;E7ETU5;B4DN88	.;RBMS1_HUMAN;.;.;.;.	H	333;297;297;346;297	ENSP00000294904:P333H;ENSP00000386347:P297H;ENSP00000386571:P297H;ENSP00000376508:P346H;ENSP00000387280:P297H	ENSP00000294904:P333H	P	-	2	0	RBMS1	160843369	1.000000	0.71417	0.975000	0.42487	0.932000	0.56968	5.221000	0.65272	2.894000	0.99253	0.655000	0.94253	CCC		0.493	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255043.4	NM_016836	
FGA	2243	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	4	155506781	155506781	+	Missense_Mutation	SNP	G	G	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr4:155506781G>C	ENST00000302053.3	-	5	1878	c.1800C>G	c.(1798-1800)agC>agG	p.S600R	FGA_ENST00000403106.3_Missense_Mutation_p.S600R	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	600					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|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)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCATTTTATAGCTCTTGCTTT	0.453																																					NSCLC(143;340 1922 20892 22370 48145)	.											0													140.0	133.0	135.0					4																	155506781		2203	4300	6503	SO:0001583	missense	2243				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1800C>G	4.37:g.155506781G>C	ENSP00000306361:p.Ser600Arg		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	CCDS3787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.01|11.01	1.511900|1.511900	0.27036|0.27036	.|.	.|.	ENSG00000171560|ENSG00000171560	ENST00000457487|ENST00000302053;ENST00000403106	.|T;T	.|0.58940	.|0.3;2.3	5.81|5.81	4.08|4.08	0.47627|0.47627	.|.	.|3.106990	.|0.00531	.|N	.|0.000202	T|T	0.70500|0.70500	0.3231|0.3231	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	1|1	.|D;D	.|0.67145	.|0.97;0.996	.|P;P	.|0.53649	.|0.62;0.731	T|T	0.49143|0.49143	-0.8970|-0.8970	6|10	0.44086|0.45353	T|T	0.13|0.12	.|.	11.5816|11.5816	0.50894|0.50894	0.2122:0.0:0.7878:0.0|0.2122:0.0:0.7878:0.0	.|.	.|600;600	.|P02671-2;P02671	.|.;FIBA_HUMAN	G|R	242|600	.|ENSP00000306361:S600R;ENSP00000385981:S600R	ENSP00000407891:A242G|ENSP00000306361:S600R	A|S	-|-	2|3	0|2	FGA|FGA	155726231|155726231	0.028000|0.028000	0.19301|0.19301	0.008000|0.008000	0.14137|0.14137	0.069000|0.069000	0.16628|0.16628	1.552000|1.552000	0.36244|0.36244	0.387000|0.387000	0.25024|0.25024	-0.797000|-0.797000	0.03246|0.03246	GCT|AGC		0.453	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508	
CPSF3L	54973	broad.mit.edu	37	1	1254710	1254710	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr1:1254710T>C	ENST00000435064.1	-	4	477	c.395A>G	c.(394-396)aAg>aGg	p.K132R	CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000462432.1_5'Flank|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000450926.2_Missense_Mutation_p.K132R|CPSF3L_ENST00000545578.1_Missense_Mutation_p.K103R|CPSF3L_ENST00000421495.2_Intron|RP5-890O3.9_ENST00000444968.1_RNA|CPSF3L_ENST00000540437.1_Missense_Mutation_p.K138R	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	132					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	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)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		AGCCACCACCTTCTTCATGCA	0.602																																						.											0													207.0	199.0	202.0					1																	1254710		2203	4300	6503	SO:0001583	missense	54973			AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"""integrator complex subunit 11"""	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.395A>G	1.37:g.1254710T>C	ENSP00000413493:p.Lys132Arg		A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	ENST00000435064.1	37	CCDS21.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.483527	0.84854	.	.	ENSG00000127054	ENST00000435064;ENST00000540437;ENST00000450926;ENST00000545578;ENST00000434694;ENST00000526332;ENST00000527719;ENST00000530031;ENST00000534345	T;T;T;T;T;T;T;T;T	0.79554	1.04;1.04;1.04;-1.28;1.04;0.91;-1.28;-1.28;1.04	4.73	4.73	0.59995	Beta-lactamase-like (2);	0.170393	0.52532	D	0.000076	D	0.84933	0.5582	L	0.48642	1.525	0.80722	D	1	D;D;D;D	0.71674	0.986;0.998;0.986;0.989	P;D;P;P	0.73380	0.787;0.98;0.787;0.865	T	0.82719	-0.0318	10	0.26408	T	0.33	-49.0445	14.4028	0.67060	0.0:0.0:0.0:1.0	.	132;151;138;132	Q5TA45-3;Q5TA51;G3V1S5;Q5TA45	.;.;.;INT11_HUMAN	R	132;138;132;103;132;8;138;179;133	ENSP00000413493:K132R;ENSP00000445001:K138R;ENSP00000392848:K132R;ENSP00000444672:K103R;ENSP00000411233:K132R;ENSP00000434790:K8R;ENSP00000436743:K138R;ENSP00000432009:K179R;ENSP00000435772:K133R	ENSP00000411233:K132R	K	-	2	0	CPSF3L	1244573	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.815000	0.86186	1.993000	0.58246	0.459000	0.35465	AAG		0.602	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871	
CNKSR1	10256	broad.mit.edu	37	1	26509852	26509852	+	Nonsense_Mutation	SNP	C	C	T	rs200619424		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr1:26509852C>T	ENST00000374253.5	+	8	739	c.700C>T	c.(700-702)Cga>Tga	p.R234*	CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000361530.6_Nonsense_Mutation_p.R234*	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	234	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)	p.R234*(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CACTGACTCCCGACTGCAGAT	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		19569	0.0		0.001	False		,,,				2504	0.0				NSCLC(180;1396 2109 28270 30756 34275)	.											1	Substitution - Nonsense(1)	prostate(1)											108.0	105.0	106.0					1																	26509852		2203	4300	6503	SO:0001587	stop_gained	10256			AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.700C>T	1.37:g.26509852C>T	ENSP00000363371:p.Arg234*		B1AMW9|O95381	Nonsense_Mutation	SNP	ENST00000374253.5	37		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	24.0	4.479257	0.84747	.	.	ENSG00000142675	ENST00000361530;ENST00000374253	.	.	.	5.0	3.97	0.46021	.	1.470530	0.03914	N	0.282324	.	.	.	.	.	.	0.19575	N	0.999969	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	0.0047	4.2499	0.10689	0.0:0.5771:0.2685:0.1544	.	.	.	.	X	234	.	ENSP00000354609:R234X	R	+	1	2	CNKSR1	26382439	0.000000	0.05858	0.018000	0.16275	0.256000	0.26092	0.008000	0.13197	2.307000	0.77673	0.655000	0.94253	CGA		0.637	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314	
LDB3	11155	broad.mit.edu	37	10	88476140	88476140	+	Missense_Mutation	SNP	A	A	C	rs143163993|rs397517209		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr10:88476140A>C	ENST00000361373.4	+	9	1309	c.1288A>C	c.(1288-1290)Acc>Ccc	p.T430P	LDB3_ENST00000263066.6_Missense_Mutation_p.T320P|LDB3_ENST00000429277.2_Missense_Mutation_p.T435P|LDB3_ENST00000458213.2_Missense_Mutation_p.T320P|LDB3_ENST00000352360.5_Missense_Mutation_p.T173P	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CACTCCCTAcaccccctcccc	0.602																																						.											0													36.0	35.0	35.0					10																	88476140		2203	4300	6503	SO:0001583	missense	11155			AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.1288A>C	10.37:g.88476140A>C	ENSP00000355296:p.Thr430Pro			Missense_Mutation	SNP	ENST00000361373.4	37	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	A	4.643	0.119583	0.08881	.	.	ENSG00000122367	ENST00000429277;ENST00000458213;ENST00000352360;ENST00000263066;ENST00000361373	T;T;T;T;T	0.54479	0.81;0.65;0.61;0.65;0.57	2.34	2.34	0.29019	.	0.000000	0.33401	N	0.004943	T	0.39733	0.1089	L	0.47716	1.5	0.35739	D	0.818567	D;B;D;B;B	0.59357	0.985;0.009;0.983;0.006;0.0	B;B;B;B;B	0.42319	0.336;0.009;0.383;0.01;0.0	T	0.46555	-0.9183	10	0.29301	T	0.29	.	6.4634	0.21968	1.0:0.0:0.0:0.0	.	435;367;173;430;320	B4E3K3;F5H0C2;O75112-3;O75112;O75112-2	.;.;.;LDB3_HUMAN;.	P	435;320;173;320;430	ENSP00000401437:T435P;ENSP00000409148:T320P;ENSP00000263067:T173P;ENSP00000263066:T320P;ENSP00000355296:T430P	ENSP00000263066:T320P	T	+	1	0	LDB3	88466120	0.976000	0.34144	0.833000	0.33012	0.146000	0.21551	2.252000	0.43196	1.055000	0.40461	0.240000	0.17902	ACC		0.602	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2		
FAM186A	121006	broad.mit.edu	37	12	50746922	50746922	+	Silent	SNP	T	T	G			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr12:50746922T>G	ENST00000327337.5	-	4	3692	c.3693A>C	c.(3691-3693)ctA>ctC	p.L1231L	FAM186A_ENST00000543096.1_5'Flank|FAM186A_ENST00000543111.1_Silent_p.L1231L	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	1231																	GCTGAAGGGTTAGAGTGATCC	0.632																																					NSCLC(138;1796 1887 12511 19463 37884)	.											0													20.0	18.0	19.0					12																	50746922		692	1590	2282	SO:0001819	synonymous_variant	121006				CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.3693A>C	12.37:g.50746922T>G				Silent	SNP	ENST00000327337.5	37	CCDS44878.1																																																																																				0.632	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396838.1	XM_001718353	
DIP2B	57609	broad.mit.edu	37	12	51072520	51072520	+	Silent	SNP	A	A	G			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr12:51072520A>G	ENST00000301180.5	+	8	1009	c.975A>G	c.(973-975)aaA>aaG	p.K325K		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	325						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CCCCTGTGAAAGGAGAGCCTT	0.537																																						.											0													81.0	73.0	75.0					12																	51072520		2203	4300	6503	SO:0001819	synonymous_variant	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.975A>G	12.37:g.51072520A>G			Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	37	CCDS31799.1																																																																																				0.537	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602	
GNS	2799	broad.mit.edu	37	12	65115476	65115476	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr12:65115476G>A	ENST00000258145.3	-	12	1488	c.1318C>T	c.(1318-1320)Cca>Tca	p.P440S	GNS_ENST00000542058.1_Missense_Mutation_p.P420S|GNS_ENST00000543646.1_Missense_Mutation_p.P472S|GNS_ENST00000418919.2_Missense_Mutation_p.P384S	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	440					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		ACACAGTCTGGGAAGCATTGC	0.418																																						.											0													143.0	120.0	127.0					12																	65115476		2203	4300	6503	SO:0001583	missense	2799				CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"""Sanfilippo disease IIID"", ""N-acetylglucosamine-6-sulfatase"""	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.1318C>T	12.37:g.65115476G>A	ENSP00000258145:p.Pro440Ser		B4DYH8|Q53F05	Missense_Mutation	SNP	ENST00000258145.3	37	CCDS8970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.5|29.5	5.010550|5.010550	0.93346|0.93346	.|.	.|.	ENSG00000135677|ENSG00000135677	ENST00000540196|ENST00000418919;ENST00000258145;ENST00000543646;ENST00000542058;ENST00000539825	.|T;T;T;T	.|0.64803	.|-0.12;-0.12;-0.12;-0.12	5.71|5.71	5.71|5.71	0.89125|0.89125	.|Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.78861|0.78861	0.4350|0.4350	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	.|P;D;P;D	.|0.89917	.|0.883;1.0;0.885;0.981	.|P;D;P;P	.|0.81914	.|0.718;0.995;0.688;0.871	T|T	0.76242|0.76242	-0.3031|-0.3031	6|9	.|.	.|.	.|.	-15.0115|-15.0115	20.2469|20.2469	0.98398|0.98398	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|420;472;440;384	.|B4DYH8;F6S8M0;P15586;Q7Z3X3	.|.;.;GNS_HUMAN;.	L|S	225|384;440;472;420;357	.|ENSP00000413130:P384S;ENSP00000258145:P440S;ENSP00000438497:P472S;ENSP00000444819:P420S	.|.	P|P	-|-	2|1	0|0	GNS|GNS	63401743|63401743	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	9.725000|9.725000	0.98778|0.98778	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	CCC|CCA		0.418	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401195.2		
NAA30	122830	broad.mit.edu	37	14	57863498	57863498	+	Missense_Mutation	SNP	C	C	T	rs369695420		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr14:57863498C>T	ENST00000556492.1	+	3	954	c.800C>T	c.(799-801)gCc>gTc	p.A267V	NAA30_ENST00000554703.1_Missense_Mutation_p.A9V|NAA30_ENST00000555166.1_Missense_Mutation_p.A9V	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	267	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				metabolic process (GO:0008152)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						TGTGTAGGTGCCATCGTTTGC	0.413																																						.											0													237.0	207.0	217.0					14																	57863498		2203	4300	6503	SO:0001583	missense	122830			AK092674	CCDS32088.1	14q22.2	2010-05-07	2010-01-14	2010-01-14		ENSG00000139977	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	19844	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 35"", ""N-acetyltransferase 12"", ""N-acetyltransferase 12 (GCN5-related, putative)"""	C14orf35, NAT12		19660095	Standard	NM_001011713		Approved	FLJ35355, MAK3, Mak3p	uc001xcx.4	Q147X3		ENST00000556492.1:c.800C>T	14.37:g.57863498C>T	ENSP00000452521:p.Ala267Val		Q0IIN2	Missense_Mutation	SNP	ENST00000556492.1	37	CCDS32088.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.96|15.96	2.987974|2.987974	0.53934|0.53934	.|.	.|.	ENSG00000139977|ENSG00000139977	ENST00000555166;ENST00000556492;ENST00000554703;ENST00000395257|ENST00000298406	T;T;T|.	0.23147|.	1.92;1.92;1.92|.	5.89|5.89	5.89|5.89	0.94794|0.94794	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.49898|0.49898	0.1584|0.1584	N|N	0.11201|0.11201	0.11|0.11	0.80722|0.80722	D|D	1|1	B|.	0.20052|.	0.041|.	B|.	0.28139|.	0.086|.	T|T	0.43261|0.43261	-0.9402|-0.9402	10|5	0.22109|.	T|.	0.4|.	-2.6585|-2.6585	20.2618|20.2618	0.98447|0.98447	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	267|.	Q147X3|.	NAA30_HUMAN|.	V|S	9;267;9;230|79	ENSP00000450939:A9V;ENSP00000452521:A267V;ENSP00000451255:A9V|.	ENSP00000298406:A267V|.	A|P	+|+	2|1	0|0	NAA30|NAA30	56933251|56933251	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.814000|7.814000	0.86154|0.86154	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.413	NAA30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412925.1	NM_001011713	
TIMM9	26520	broad.mit.edu;mdanderson.org;bcgsc.ca	37	14	58878663	58878663	+	Start_Codon_SNP	SNP	T	T	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr14:58878663T>C	ENST00000395159.2	-	4	526	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	TIMM9_ENST00000555593.1_Start_Codon_SNP_p.M1V|RP11-517O13.1_ENST00000556734.1_RNA|TIMM9_ENST00000556007.2_Start_Codon_SNP_p.M1V|TIMM9_ENST00000216463.4_Intron|TIMM9_ENST00000555404.1_Start_Codon_SNP_p.M1V|TIMM9_ENST00000555061.1_Start_Codon_SNP_p.M1V	NM_012460.2	NP_036592.1	Q9Y5J7	TIM9_HUMAN	translocase of inner mitochondrial membrane 9 homolog (yeast)	1					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein transport (GO:0072321)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)|sensory perception of sound (GO:0007605)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial intermembrane space protein transporter complex (GO:0042719)|mitochondrion (GO:0005739)	chaperone binding (GO:0051087)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			kidney(2)|skin(1)	3						TGTGCAGCCATATTCTTCTGG	0.308																																						.											0													92.0	90.0	91.0					14																	58878663		2202	4300	6502	SO:0001582	initiator_codon_variant	26520			AF150100	CCDS9735.1	14q22.3-q24	2008-07-04	2001-11-28		ENSG00000100575	ENSG00000100575			11819	protein-coding gene	gene with protein product		607384	"""translocase of inner mitochondrial membrane 9 (yeast) homolog"""			10552927, 14726512	Standard	NM_012460		Approved	TIM9A	uc001xds.3	Q9Y5J7	OTTHUMG00000140322	ENST00000395159.2:c.1A>G	14.37:g.58878663T>C	ENSP00000378588:p.Met1Val		B2R584	Missense_Mutation	SNP	ENST00000395159.2	37	CCDS9735.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.047777	0.55110	.	.	ENSG00000100575	ENST00000395159;ENST00000555593;ENST00000556007;ENST00000555061;ENST00000555404;ENST00000555097;ENST00000553450	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.42381	0.1200	.	.	.	0.80722	D	1	B	0.22683	0.073	B	0.17433	0.018	T	0.39187	-0.9626	9	0.72032	D	0.01	-25.0133	14.6598	0.68861	0.0:0.0:0.0:1.0	.	1	Q9Y5J7	TIM9_HUMAN	V	1	ENSP00000378588:M1V;ENSP00000451006:M1V;ENSP00000450638:M1V;ENSP00000451198:M1V	ENSP00000216463:M1V	M	-	1	0	TIMM9	57948416	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.606000	0.82863	2.130000	0.65690	0.528000	0.53228	ATG		0.308	TIMM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276936.2		Missense_Mutation
VPS13C	54832	broad.mit.edu	37	15	62243167	62243167	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr15:62243167delG	ENST00000261517.5	-	40	4586	c.4513delC	c.(4513-4515)cttfs	p.L1506fs	VPS13C_ENST00000249837.3_Frame_Shift_Del_p.L1463fs|VPS13C_ENST00000395896.4_Frame_Shift_Del_p.L1506fs|VPS13C_ENST00000395898.3_Frame_Shift_Del_p.L1463fs	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATTTTCAGAAGGGGTTCGTCA	0.289																																						.											0													46.0	46.0	46.0					15																	62243167		2202	4295	6497	SO:0001589	frameshift_variant	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.4513delC	15.37:g.62243167delG	ENSP00000261517:p.Leu1506fs			Frame_Shift_Del	DEL	ENST00000261517.5	37	CCDS32257.1																																																																																				0.289	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
C15orf39	56905	broad.mit.edu	37	15	75503149	75503149	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr15:75503149G>A	ENST00000360639.2	+	3	3156	c.2836G>A	c.(2836-2838)Gag>Aag	p.E946K	C15orf39_ENST00000567617.1_3'UTR|RP11-69H7.3_ENST00000563568.1_RNA|C15orf39_ENST00000394987.4_Missense_Mutation_p.E946K			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	946						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GGCCAGAGGTGAGCCAGAGAG	0.617																																						.											0													59.0	55.0	56.0					15																	75503149		2197	4295	6492	SO:0001583	missense	56905			AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.2836G>A	15.37:g.75503149G>A	ENSP00000353854:p.Glu946Lys		B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726790	0.48833	.	.	ENSG00000167173	ENST00000360639;ENST00000394987;ENST00000446981	T;T	0.20881	2.04;2.04	4.24	3.32	0.38043	.	0.152597	0.42548	D	0.000685	T	0.30696	0.0773	L	0.32530	0.975	0.80722	D	1	D	0.67145	0.996	D	0.76071	0.987	T	0.03981	-1.0987	10	0.87932	D	0	-18.6968	8.1981	0.31409	0.111:0.0:0.889:0.0	.	946	Q6ZRI6	CO039_HUMAN	K	946;946;344	ENSP00000353854:E946K;ENSP00000378438:E946K	ENSP00000353854:E946K	E	+	1	0	C15orf39	73290202	0.978000	0.34361	0.582000	0.28627	0.232000	0.25224	1.964000	0.40462	1.135000	0.42183	0.462000	0.41574	GAG		0.617	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492	
ADAMTS17	170691	broad.mit.edu;mdanderson.org;bcgsc.ca	37	15	100672306	100672306	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr15:100672306C>T	ENST00000268070.4	-	12	1732	c.1627G>A	c.(1627-1629)Gac>Aac	p.D543N	RP11-90E5.1_ENST00000560128.1_RNA	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	543	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CAGTCTCCGTCCACATGCTCC	0.667											OREG0023513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													35.0	37.0	36.0					15																	100672306		2203	4300	6503	SO:0001583	missense	170691			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.1627G>A	15.37:g.100672306C>T	ENSP00000268070:p.Asp543Asn	1353	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649654	0.87958	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	T	0.20069	2.1	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.33498	0.0865	L	0.45581	1.43	0.80722	D	1	P;D	0.59767	0.731;0.986	B;P	0.53266	0.371;0.722	T	0.02301	-1.1180	10	0.48119	T	0.1	.	18.8106	0.92056	0.0:1.0:0.0:0.0	.	300;543	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	N	543;300	ENSP00000268070:D543N	ENSP00000268070:D543N	D	-	1	0	ADAMTS17	98489829	1.000000	0.71417	0.998000	0.56505	0.822000	0.46500	7.194000	0.77789	2.423000	0.82170	0.561000	0.74099	GAC		0.667	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057	
TSC2	7249	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	2129290	2129290	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr16:2129290G>A	ENST00000219476.3	+	28	3775	c.3145G>A	c.(3145-3147)Gag>Aag	p.E1049K	TSC2_ENST00000350773.4_Missense_Mutation_p.E1049K|TSC2_ENST00000568454.1_Missense_Mutation_p.E1016K|TSC2_ENST00000401874.2_Missense_Mutation_p.E1005K|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000439673.2_Missense_Mutation_p.E969K|TSC2_ENST00000382538.6_Missense_Mutation_p.E957K|TSC2_ENST00000353929.4_Missense_Mutation_p.E1006K	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1049					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TCCTGTGGGCGAGTTCCTCCT	0.637			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													.	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0													90.0	79.0	83.0					16																	2129290		2197	4300	6497	SO:0001583	missense	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3145G>A	16.37:g.2129290G>A	ENSP00000219476:p.Glu1049Lys		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570729	0.86542	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.92048	-2.74;-2.89;-2.96;-2.95;-2.71	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.95010	0.8385	L	0.58583	1.82	0.80722	D	1	D;P;D;D;D;D	0.89917	0.998;0.882;0.999;0.999;1.0;0.997	P;B;D;D;D;D	0.71414	0.905;0.411;0.956;0.956;0.973;0.955	D	0.95539	0.8610	10	0.72032	D	0.01	-28.7175	18.0348	0.89296	0.0:0.0:1.0:0.0	.	957;969;1049;1005;1005;1049	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	K	1049;1006;1006;969;957;1049	ENSP00000219476:E1049K;ENSP00000248099:E1006K;ENSP00000399232:E969K;ENSP00000371978:E957K;ENSP00000344383:E1049K	ENSP00000219476:E1049K	E	+	1	0	TSC2	2069291	1.000000	0.71417	0.971000	0.41717	0.695000	0.40330	7.616000	0.83018	2.339000	0.79563	0.561000	0.74099	GAG		0.637	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548	
ERCC4	2072	broad.mit.edu	37	16	14041897	14041897	+	Missense_Mutation	SNP	A	A	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr16:14041897A>T	ENST00000311895.7	+	11	2453	c.2444A>T	c.(2443-2445)gAg>gTg	p.E815V		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	815					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TTGTTTGAGGAGCTGAAACAA	0.507			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													.	yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""		E	0													50.0	49.0	49.0					16																	14041897		2197	4300	6497	SO:0001583	missense	2072	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.2444A>T	16.37:g.14041897A>T	ENSP00000310520:p.Glu815Val		A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.897569	0.91962	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.29142	1.58	6.16	5.07	0.68467	DNA repair nuclease, XPF-type/Helicase (1);Restriction endonuclease, type II-like (1);	0.094649	0.64402	D	0.000001	T	0.54062	0.1835	M	0.81179	2.53	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	T	0.57785	-0.7751	10	0.56958	D	0.05	-24.7225	11.8141	0.52199	0.932:0.0:0.068:0.0	.	815	Q92889	XPF_HUMAN	V	815;803	ENSP00000310520:E815V	ENSP00000310520:E815V	E	+	2	0	ERCC4	13949398	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.925000	0.75829	1.143000	0.42306	0.528000	0.53228	GAG		0.507	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236	
ERN2	10595	broad.mit.edu	37	16	23716452	23716452	+	Silent	SNP	C	C	T	rs373918514		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr16:23716452C>T	ENST00000457008.2	-	8	644	c.606G>A	c.(604-606)gcG>gcA	p.A202A	ERN2_ENST00000256797.4_Silent_p.A250A					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TCCCGCAGGACGCCAGGTGGC	0.642																																						.											0								C		0,4394		0,0,2197	42.0	41.0	41.0		750	-6.7	1.0	16		41	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ERN2	NM_033266.3		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		250/975	23716452	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	10595			AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.606G>A	16.37:g.23716452C>T				Silent	SNP	ENST00000457008.2	37																																																																																					0.642	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1		
PKD1L3	342372	broad.mit.edu	37	16	72003881	72003881	+	RNA	SNP	G	G	A	rs553586556		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr16:72003881G>A	ENST00000534738.1	-	0	2076							Q7Z443	PK1L3_HUMAN	polycystic kidney disease 1-like 3						cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|neuropeptide signaling pathway (GO:0007218)|sensory perception of sour taste (GO:0050915)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|lung(3)|skin(2)	22						TTGGTCACGCGAAGGAACAGT	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20244	0.0		0.0	False		,,,				2504	0.0					.											0													109.0	87.0	93.0					16																	72003881		692	1591	2283			342372			AY164485	CCDS73912.1	16q22.2	2008-02-05				ENSG00000277481			21716	protein-coding gene	gene with protein product		607895				12782129	Standard	NM_181536		Approved		uc010vmm.2	Q7Z443			16.37:g.72003881G>A				Missense_Mutation	SNP	ENST00000534738.1	37																																																																																					0.493	PKD1L3-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000387876.1	NM_181536	
BECN1	8678	broad.mit.edu	37	17	40970314	40970314	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr17:40970314T>C	ENST00000361523.4	-	7	740	c.608A>G	c.(607-609)aAg>aGg	p.K203R	BECN1_ENST00000590099.1_Missense_Mutation_p.K203R|BECN1_ENST00000438274.3_Missense_Mutation_p.K127R	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	203					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CTTGCGGTTCTTTTCCACGTC	0.507																																						.											0													229.0	209.0	216.0					17																	40970314		2203	4300	6503	SO:0001583	missense	8678			AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"""ATG6 autophagy related 6 homolog (S. cerevisiae)"""	604378	"""beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"""			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.608A>G	17.37:g.40970314T>C	ENSP00000355231:p.Lys203Arg		B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP	ENST00000361523.4	37	CCDS11441.1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.618875	0.28801	.	.	ENSG00000126581	ENST00000361523;ENST00000438274;ENST00000543382	T;T	0.46451	0.87;2.47	6.03	4.96	0.65561	.	0.204155	0.52532	N	0.000063	T	0.31071	0.0785	L	0.39147	1.195	0.20074	N	0.999932	B;B	0.14438	0.01;0.002	B;B	0.19666	0.026;0.016	T	0.23833	-1.0177	10	0.13853	T	0.58	.	9.0798	0.36545	0.0:0.1392:0.0:0.8608	.	127;203	E7EV84;Q14457	.;BECN1_HUMAN	R	203;127;116	ENSP00000355231:K203R;ENSP00000416173:K127R	ENSP00000355231:K203R	K	-	2	0	BECN1	38223840	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	2.320000	0.43797	1.109000	0.41680	0.533000	0.62120	AAG		0.507	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452405.1	NM_003766	
COL5A3	50509	broad.mit.edu	37	19	10091506	10091506	+	Silent	SNP	A	A	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr19:10091506A>C	ENST00000264828.3	-	34	2620	c.2535T>G	c.(2533-2535)ggT>ggG	p.G845G		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	845	Collagen-like 3.|Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GCCCTGTGGCACCCGGTTGCC	0.582																																						.											0													28.0	28.0	28.0					19																	10091506		2203	4300	6503	SO:0001819	synonymous_variant	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2535T>G	19.37:g.10091506A>C			Q9NZQ6	Silent	SNP	ENST00000264828.3	37	CCDS12222.1																																																																																				0.582	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719	
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						.											4	Substitution - coding silent(4)	urinary_tract(2)|kidney(2)																																								SO:0001819	synonymous_variant	284802					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.285G>C	20.37:g.29628283G>C			C4AME5	RNA	SNP	ENST00000278882.3	37																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
ATP5E	514	broad.mit.edu	37	20	57605434	57605434	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr20:57605434T>C	ENST00000243997.3	-	2	213	c.83A>G	c.(82-84)aAg>aGg	p.K28R	ATP5E_ENST00000395659.1_Missense_Mutation_p.K28R|ATP5E_ENST00000395663.1_Missense_Mutation_p.K28R	NM_006886.3	NP_008817.1	P56381	ATP5E_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit	28					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			skin(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)			GAATTCTGTCTTCAGTGCATC	0.373																																						.											0													100.0	95.0	97.0					20																	57605434		2203	4300	6503	SO:0001583	missense	514			AF077045	CCDS13476.1	20q13.3	2012-10-12			ENSG00000124172	ENSG00000124172		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	838	protein-coding gene	gene with protein product		606153				10727396	Standard	NM_006886		Approved		uc002yal.3	P56381	OTTHUMG00000032854	ENST00000243997.3:c.83A>G	20.37:g.57605434T>C	ENSP00000243997:p.Lys28Arg		B2RDD0|E1P5H6|Q53XU6	Missense_Mutation	SNP	ENST00000243997.3	37	CCDS13476.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.681721	0.88542	.	.	ENSG00000124172	ENST00000243997;ENST00000395663;ENST00000395659	D;D;D	0.86164	-2.08;-2.08;-2.08	5.54	5.54	0.83059	.	0.000000	0.64402	U	0.000010	D	0.83667	0.5304	.	.	.	0.45806	D	0.998684	B	0.29936	0.262	B	0.31812	0.136	T	0.81720	-0.0804	9	0.40728	T	0.16	.	14.8524	0.70306	0.0:0.0:0.0:1.0	.	28	P56381	ATP5E_HUMAN	R	28	ENSP00000243997:K28R;ENSP00000379023:K28R;ENSP00000379019:K28R	ENSP00000243997:K28R	K	-	2	0	ATP5E	57038829	1.000000	0.71417	0.520000	0.27837	0.967000	0.64934	5.804000	0.69135	2.095000	0.63458	0.460000	0.39030	AAG		0.373	ATP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079894.2	NM_001001977	
TMPRSS15	5651	broad.mit.edu	37	21	19751610	19751610	+	Silent	SNP	C	C	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr21:19751610C>T	ENST00000284885.3	-	5	555	c.522G>A	c.(520-522)ctG>ctA	p.L174L		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	174						brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CTGGAGTTGCCAGATGACTGG	0.274																																						.											0													5.0	5.0	5.0					21																	19751610		1067	2113	3180	SO:0001819	synonymous_variant	5651				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.522G>A	21.37:g.19751610C>T			Q2NKL7	Silent	SNP	ENST00000284885.3	37	CCDS13571.1																																																																																				0.274	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	
CECR2	27443	broad.mit.edu	37	22	18029228	18029228	+	Silent	SNP	T	T	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr22:18029228T>C	ENST00000400585.2	+	17	4197	c.3759T>C	c.(3757-3759)ccT>ccC	p.P1253P	CECR2_ENST00000400573.5_Silent_p.P1395P|CECR2_ENST00000262608.8_Silent_p.P1396P			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1437	Poly-Pro.				apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TAAGAGGACCTTTCCAGGAAA	0.433																																						.											0													31.0	33.0	33.0					22																	18029228		1922	4124	6046	SO:0001819	synonymous_variant	27443			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.3759T>C	22.37:g.18029228T>C			A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP	ENST00000400585.2	37																																																																																					0.433	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413	
USP19	10869	broad.mit.edu;mdanderson.org;bcgsc.ca	37	3	49153200	49153200	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr3:49153200G>T	ENST00000398888.2	-	10	1658	c.1340C>A	c.(1339-1341)cCc>cAc	p.P447H	USP19_ENST00000398892.3_Missense_Mutation_p.P487H|USP19_ENST00000417901.1_Missense_Mutation_p.P550H|USP19_ENST00000453664.1_Missense_Mutation_p.P538H|USP19_ENST00000434032.2_Missense_Mutation_p.P548H|USP19_ENST00000398896.1_Missense_Mutation_p.P255H|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398898.2_Missense_Mutation_p.P487H	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	447					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATGCTCCATGGGTGTGCGGGT	0.597																																						.											0													89.0	94.0	92.0					3																	49153200		2111	4220	6331	SO:0001583	missense	10869			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1340C>A	3.37:g.49153200G>T	ENSP00000381863:p.Pro447His		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746657	0.30955	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026	T;T;T;T;T;T;T;T	0.33654	2.03;2.04;2.14;2.15;2.04;2.16;2.14;1.4	6.17	6.17	0.99709	Domain of unknown function DUF1872 (1);	0.595439	0.18798	N	0.130869	T	0.51652	0.1687	L	0.40543	1.245	0.19300	N	0.999974	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;0.999;0.999;0.998	D;D;D;P;D;D;P	0.74023	0.975;0.982;0.975;0.903;0.946;0.957;0.903	T	0.47129	-0.9141	10	0.72032	D	0.01	-14.2127	14.6223	0.68594	0.0696:0.0:0.9304:0.0	.	613;548;538;447;487;533;255	A5PKX8;E9PEG8;E7EN22;O94966;B5MEG5;O94966-2;E7ESU0	.;.;.;UBP19_HUMAN;.;.;.	H	255;487;550;538;487;447;548;535	ENSP00000381870:P255H;ENSP00000381872:P487H;ENSP00000395260:P550H;ENSP00000400090:P538H;ENSP00000381867:P487H;ENSP00000381863:P447H;ENSP00000401197:P548H;ENSP00000303503:P535H	ENSP00000303503:P535H	P	-	2	0	USP19	49128204	0.992000	0.36948	0.144000	0.22314	0.242000	0.25591	5.098000	0.64548	2.941000	0.99782	0.655000	0.94253	CCC		0.597	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677	
GHSR	2693	broad.mit.edu	37	3	172165985	172165985	+	Silent	SNP	C	C	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr3:172165985C>T	ENST00000241256.2	-	1	261	c.219G>A	c.(217-219)gaG>gaA	p.E73E	GHSR_ENST00000427970.1_Silent_p.E73E	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	73					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGGTGCGCAGCTCGCGGAAGC	0.652																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	.											0													74.0	61.0	66.0					3																	172165985		2203	4300	6503	SO:0001819	synonymous_variant	2693			AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.219G>A	3.37:g.172165985C>T			Q14D12|Q6ISR8|Q92848|Q96RJ7	Silent	SNP	ENST00000241256.2	37	CCDS3218.1																																																																																				0.652	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122	
ZCCHC4	29063	broad.mit.edu	37	4	25353254	25353254	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr4:25353254delT	ENST00000302874.4	+	8	978	c.954delT	c.(952-954)tatfs	p.Y318fs	AC108218.1_ENST00000580712.1_RNA|ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	318							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				TTTTCCCCTATTTTTTTGAAT	0.353																																						.											0													138.0	127.0	130.0					4																	25353254		1789	4063	5852	SO:0001589	frameshift_variant	29063			AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"""Zinc fingers, CCHC domain containing"""	22917	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 4"""	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.954delT	4.37:g.25353254delT	ENSP00000303468:p.Tyr318fs		B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Frame_Shift_Del	DEL	ENST00000302874.4	37	CCDS43218.1																																																																																				0.353	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1		
GUCY1A3	2982	broad.mit.edu;mdanderson.org	37	4	156643251	156643251	+	Missense_Mutation	SNP	G	G	A	rs370478508		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr4:156643251G>A	ENST00000296518.7	+	9	1987	c.1778G>A	c.(1777-1779)cGt>cAt	p.R593H	GUCY1A3_ENST00000511507.1_Missense_Mutation_p.R593H|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.R593H|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.R593H|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.R593H|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.R335H|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.R593H			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	593	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AAAATGCCCCGTTACTGTCTT	0.423																																						.											0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	229.0	220.0	223.0		1778,1778,1778,1778,1073,1778	5.8	1.0	4		223	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	GUCY1A3	NM_000856.4,NM_001130682.1,NM_001130683.2,NM_001130684.1,NM_001130685.1,NM_001130687.1	29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	593/691,593/691,593/691,593/691,358/456,593/625	156643251	1,13005	2203	4300	6503	SO:0001583	missense	2982				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1778G>A	4.37:g.156643251G>A	ENSP00000296518:p.Arg593His		D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	35	5.572927	0.96553	0.0	1.16E-4	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55	5.82	5.82	0.92795	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000007	D	0.93015	0.7777	M	0.88512	2.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93505	0.6848	10	0.87932	D	0	.	20.0945	0.97833	0.0:0.0:1.0:0.0	.	593;593	B3KU69;Q02108	.;GCYA3_HUMAN	H	593;593;593;593;335;593;593	ENSP00000424361:R593H;ENSP00000421493:R593H;ENSP00000426968:R593H;ENSP00000412201:R593H;ENSP00000377418:R335H;ENSP00000296518:R593H;ENSP00000426040:R593H	ENSP00000296518:R593H	R	+	2	0	GUCY1A3	156862701	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	9.869000	0.99810	2.752000	0.94435	0.585000	0.79938	CGT		0.423	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2		
HOMER1	9456	broad.mit.edu	37	5	78672018	78672018	+	Silent	SNP	T	T	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr5:78672018T>C	ENST00000334082.6	-	9	2321	c.879A>G	c.(877-879)gaA>gaG	p.E293E	HOMER1_ENST00000535690.1_Silent_p.E119E|HOMER1_ENST00000282260.6_Silent_p.E163E|HOMER1_ENST00000508576.1_Missense_Mutation_p.K177R	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	293					behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		GAATTTCTACTTCCTTCAGAA	0.368																																						.											0													107.0	97.0	100.0					5																	78672018		1836	4081	5917	SO:0001819	synonymous_variant	9456			BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.879A>G	5.37:g.78672018T>C			B2R688|O96003|Q86YM5	Missense_Mutation	SNP	ENST00000334082.6	37	CCDS43335.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.539029	0.00942	.	.	ENSG00000152413	ENST00000508576	T	0.43688	0.94	5.7	3.22	0.36961	.	.	.	.	.	T	0.27832	0.0685	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08743	-1.0707	8	0.39692	T	0.17	-17.0933	5.0657	0.14582	0.1337:0.1419:0.0:0.7244	.	177	Q86YM7-3	.	R	177	ENSP00000426651:K177R	ENSP00000426651:K177R	K	-	2	0	HOMER1	78707774	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.946000	0.29069	0.984000	0.38629	0.482000	0.46254	AAG		0.368	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	NM_004272	
HARS2	23438	broad.mit.edu	37	5	140073223	140073223	+	Silent	SNP	A	A	G			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr5:140073223A>G	ENST00000230771.3	+	2	379	c.156A>G	c.(154-156)aaA>aaG	p.K52K	HARS_ENST00000448240.1_5'Flank|HARS_ENST00000438307.2_5'Flank|HARS_ENST00000307633.3_5'Flank|HARS2_ENST00000502303.1_3'UTR|HARS2_ENST00000448069.2_Intron|HARS_ENST00000415192.2_5'Flank|HARS_ENST00000457527.2_5'Flank|HARS2_ENST00000437649.2_Silent_p.K52K|HARS_ENST00000431330.2_5'Flank|HARS2_ENST00000508522.1_Intron|HARS2_ENST00000432671.2_Silent_p.K52K|HARS2_ENST00000435019.2_Silent_p.K52K|HARS_ENST00000504156.1_5'Flank	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	52					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCAAGAGAAACCAAATTTTA	0.463																																						.											0													143.0	138.0	139.0					5																	140073223		2203	4300	6503	SO:0001819	synonymous_variant	23438			U18937	CCDS4238.1, CCDS64267.1	5q31.3	2012-07-20	2012-07-20	2007-02-23	ENSG00000112855	ENSG00000112855	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4817	protein-coding gene	gene with protein product	"""histidine tRNA ligase 2, mitochondrial (putative)"""	600783	"""histidyl-tRNA synthetase-like"""	HARSL		7755634, 21464306	Standard	NM_012208		Approved	HO3, HARSR	uc003lgx.3	P49590	OTTHUMG00000129500	ENST00000230771.3:c.156A>G	5.37:g.140073223A>G			B4DDY8	Silent	SNP	ENST00000230771.3	37	CCDS4238.1																																																																																				0.463	HARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251670.2	NM_012208	
PCDHGA2	56113	broad.mit.edu	37	5	140720439	140720439	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr5:140720439A>G	ENST00000394576.2	+	1	1901	c.1901A>G	c.(1900-1902)gAc>gGc	p.D634G	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	634	Cadherin 6. {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(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTGCTGGACAGAGACGCG	0.692																																						.											0													44.0	52.0	49.0					5																	140720439		2202	4297	6499	SO:0001583	missense	56113			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1901A>G	5.37:g.140720439A>G	ENSP00000378077:p.Asp634Gly		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	16.86	3.238465	0.58886	.	.	ENSG00000081853	ENST00000394576	T	0.65178	-0.14	5.14	5.14	0.70334	Cadherin (4);Cadherin-like (1);	0.000000	0.43747	U	0.000540	T	0.70815	0.3267	L	0.47016	1.485	0.29160	N	0.877806	D;D	0.67145	0.985;0.996	D;D	0.68039	0.913;0.955	T	0.68360	-0.5429	10	0.72032	D	0.01	.	11.8318	0.52299	0.854:0.146:0.0:0.0	.	634;634	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	G	634	ENSP00000378077:D634G	ENSP00000378077:D634G	D	+	2	0	PCDHGA2	140700623	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	4.957000	0.63652	2.093000	0.63338	0.397000	0.26171	GAC		0.692	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915	
AHI1	54806	broad.mit.edu	37	6	135787070	135787070	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr6:135787070T>C	ENST00000367800.4	-	5	847	c.631A>G	c.(631-633)Aaa>Gaa	p.K211E	AHI1_ENST00000457866.2_Missense_Mutation_p.K211E|AHI1_ENST00000327035.6_Missense_Mutation_p.K211E	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	211	Interaction with HAP1.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TCTTTCAGTTTCTTTCTTATT	0.348																																						.											0													143.0	135.0	137.0					6																	135787070		1846	4105	5951	SO:0001583	missense	54806			AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.631A>G	6.37:g.135787070T>C	ENSP00000356774:p.Lys211Glu		E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.703613	0.88924	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801;ENST00000524469	T;T;T;T;T	0.72394	1.07;1.07;1.07;1.62;-0.65	5.86	5.86	0.93980	.	0.115474	0.64402	D	0.000018	T	0.80210	0.4581	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.82604	-0.0375	10	0.87932	D	0	-26.3867	16.5602	0.84551	0.0:0.0:0.0:1.0	.	211;211	Q8N157-2;Q8N157	.;AHI1_HUMAN	E	211;211;211;211;211;193	ENSP00000356774:K211E;ENSP00000388650:K211E;ENSP00000265602:K211E;ENSP00000322478:K211E;ENSP00000433063:K193E	ENSP00000265602:K211E	K	-	1	0	AHI1	135828763	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.662000	0.68032	2.367000	0.80283	0.528000	0.53228	AAA		0.348	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651	
PARK2	5071	broad.mit.edu	37	6	162394348	162394348	+	Silent	SNP	C	C	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr6:162394348C>A	ENST00000366898.1	-	6	822	c.720G>T	c.(718-720)acG>acT	p.T240T	PARK2_ENST00000366896.1_Silent_p.T91T|PARK2_ENST00000366897.1_Silent_p.T212T|PARK2_ENST00000366892.1_Silent_p.T240T|PARK2_ENST00000366894.1_Silent_p.T49T|PARK2_ENST00000338468.3_Silent_p.T49T	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	240			T -> M (in PARK2). {ECO:0000269|PubMed:12629236}.|T -> R (in PARK2; impairs the ability to ubiquitinate SNCAIP and BCL2; loss of UBE2L3 binding; severely compromises the mitochondrial localization). {ECO:0000269|PubMed:9731209}.		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)		CGTCTGTGCACGTAATGCAAG	0.448																																						.											0													234.0	180.0	198.0					6																	162394348		2203	4300	6503	SO:0001819	synonymous_variant	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.720G>T	6.37:g.162394348C>A			A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Silent	SNP	ENST00000366898.1	37	CCDS5281.1																																																																																				0.448	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1		
PILRB	29990	broad.mit.edu;bcgsc.ca	37	7	99956366	99956366	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr7:99956366C>T	ENST00000452089.1	+	7	1177	c.118C>T	c.(118-120)Cac>Tac	p.H40Y	STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000609309.1_Missense_Mutation_p.H40Y|PILRB_ENST00000444073.1_Missense_Mutation_p.H40Y|PILRB_ENST00000448382.1_Intron|PILRB_ENST00000610247.1_Missense_Mutation_p.H40Y			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	40	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCAACCAAAACACCTCTCAGC	0.537																																						.											0													66.0	70.0	69.0					7																	99956366		2199	4294	6493	SO:0001583	missense	29990			AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"""Immunoglobulin superfamily / V-set domain containing"""	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.118C>T	7.37:g.99956366C>T	ENSP00000391748:p.His40Tyr		Q69YF9|Q9HBS0	Missense_Mutation	SNP	ENST00000452089.1	37	CCDS43622.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.027116	0.00410	.	.	ENSG00000121716	ENST00000310771;ENST00000420688;ENST00000452089;ENST00000457519;ENST00000443526;ENST00000419749;ENST00000422808;ENST00000444073;ENST00000413850;ENST00000438231	T;T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;1.99	1.83	-1.49	0.08718	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.917930	0.00589	N	0.000346	T	0.38026	0.1025	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.11036	-1.0604	9	.	.	.	.	3.4261	0.07412	0.438:0.3385:0.2235:0.0	.	40	Q9UKJ0	PILRB_HUMAN	Y	40;40;40;40;40;40;40;40;145;40	ENSP00000311153:H40Y;ENSP00000391748:H40Y;ENSP00000411261:H40Y;ENSP00000403757:H40Y;ENSP00000404321:H40Y;ENSP00000389856:H40Y;ENSP00000410764:H40Y;ENSP00000408425:H40Y	.	H	+	1	0	PILRB	99794302	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	-1.839000	0.01686	-0.382000	0.07870	0.536000	0.68110	CAC		0.537	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339923.2	NM_178238	
PPP2R2A	5520	broad.mit.edu	37	8	26196504	26196504	+	Splice_Site	SNP	G	G	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr8:26196504G>T	ENST00000380737.3	+	3	509		c.e3+1		PPP2R2A_ENST00000523473.1_Splice_Site|PPP2R2A_ENST00000315985.7_Splice_Site	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha						G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		GGAGCAGGAGGTAAGTGTTTA	0.353																																						.											0													97.0	100.0	99.0					8																	26196504		2203	4299	6502	SO:0001630	splice_region_variant	5520			M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.180+1G>T	8.37:g.26196504G>T			B2RBU8|B4E1T7|P50409|Q00007	Splice_Site	SNP	ENST00000380737.3	37	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916025	0.73098	.	.	ENSG00000221914	ENST00000380737;ENST00000315985	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0703	0.86571	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPP2R2A	26252421	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.230000	0.95299	2.557000	0.86248	0.591000	0.81541	.		0.353	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717	Intron
PTPLAD2	401494	broad.mit.edu	37	9	21007046	21007046	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr9:21007046delT	ENST00000495827.2	-	7	734	c.689delA	c.(688-690)aagfs	p.K231fs	PTPLAD2_ENST00000513293.2_Frame_Shift_Del_p.K231fs	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	231	Poly-Lys.				fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TCACATCTTCTTTTTTTTAAT	0.368																																						.											0													142.0	125.0	130.0					9																	21007046		1830	4094	5924	SO:0001589	frameshift_variant	401494				CCDS43791.1	9p21.3	2008-02-05			ENSG00000188921	ENSG00000188921			20920	protein-coding gene	gene with protein product		615941					Standard	NM_001010915		Approved	Em:AL662879.1, OTTHUMG00000021016	uc010mir.1	Q5VWC8	OTTHUMG00000021016	ENST00000495827.2:c.689delA	9.37:g.21007046delT	ENSP00000419503:p.Lys231fs		Q7Z385	Frame_Shift_Del	DEL	ENST00000495827.2	37	CCDS43791.1																																																																																				0.368	PTPLAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055434.3	NM_001010915	
BCOR	54880	broad.mit.edu	37	X	39913558	39913558	+	Silent	SNP	A	A	G			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chrX:39913558A>G	ENST00000378444.4	-	13	4998	c.4770T>C	c.(4768-4770)aaT>aaC	p.N1590N	BCOR_ENST00000397354.3_Silent_p.N1556N|BCOR_ENST00000378455.4_Silent_p.N1538N|BCOR_ENST00000342274.4_Silent_p.N1556N|BCOR_ENST00000378463.1_Silent_p.N433N	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1590					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CGTCATCATCATTGCGACCCT	0.438			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															.		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													59.0	50.0	53.0					X																	39913558		2202	4300	6502	SO:0001819	synonymous_variant	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4770T>C	X.37:g.39913558A>G			D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	CCDS48093.1																																																																																				0.438	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745	
LRFN3	79414	broad.mit.edu	37	19	36430411	36430412	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr19:36430411_36430412insC	ENST00000588831.1	+	3	1138_1139	c.84_85insC	c.(85-87)cccfs	p.P29fs	LRFN3_ENST00000246529.3_Frame_Shift_Ins_p.P29fs			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	29	LRRNT.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCAGCCCATGTCCCCGCCGCTG	0.723																																						.											0																																										SO:0001589	frameshift_variant	79414			BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28370	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 1"""	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.88dupC	19.37:g.36430415_36430415dupC	ENSP00000466989:p.Pro29fs		Q6UY10	Frame_Shift_Ins	INS	ENST00000588831.1	37	CCDS12483.1																																																																																				0.723	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509	
DMWD	1762	broad.mit.edu	37	19	46289153	46289154	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr19:46289153_46289154insG	ENST00000270223.6	-	3	1645_1646	c.1600_1601insC	c.(1600-1602)cggfs	p.R534fs	DMWD_ENST00000601370.1_5'Flank|AC011530.4_ENST00000593999.1_Frame_Shift_Ins_p.G27fs|DMWD_ENST00000377735.3_Frame_Shift_Ins_p.R534fs	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	534										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CTCTGCCCCCCGGTCCCGCCGC	0.713																																						.											0																																										SO:0001589	frameshift_variant	1762			L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.1601dupC	19.37:g.46289155_46289155dupG	ENSP00000270223:p.Arg534fs			Frame_Shift_Ins	INS	ENST00000270223.6	37	CCDS33054.1																																																																																				0.713	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943	
FAM120A	23196	broad.mit.edu	37	9	96233575	96233576	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr9:96233575_96233576insA	ENST00000277165.6	+	2	821_822	c.627_628insA	c.(628-630)aaafs	p.K210fs	FAM120A_ENST00000375389.3_Frame_Shift_Ins_p.K210fs|FAM120A_ENST00000340893.4_Frame_Shift_Ins_p.K210fs|FAM120A_ENST00000333936.5_Frame_Shift_Ins_p.K210fs	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	210						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						GCCGGAACGGGAAAAGTCTCAC	0.46																																						.											0																																										SO:0001589	frameshift_variant	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.631dupA	9.37:g.96233579_96233579dupA	ENSP00000277165:p.Lys210fs		A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Frame_Shift_Ins	INS	ENST00000277165.6	37	CCDS6706.1																																																																																				0.460	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612	
ARFGAP3	26286	ucsc.edu;mdanderson.org;bcgsc.ca	37	22	43231465	43231465	+	Missense_Mutation	SNP	T	T	A	rs142981529		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr22:43231465T>A	ENST00000263245.5	-	4	515	c.296A>T	c.(295-297)aAt>aTt	p.N99I	ARFGAP3_ENST00000437119.2_Intron|ARFGAP3_ENST00000429508.2_Intron	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	99	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						ATTGGTGTCATTGGTGGAACA	0.453																																					GBM(58;544 1030 21460 27159 48838)	.											0													201.0	165.0	177.0					22																	43231465		2203	4300	6503	SO:0001583	missense	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.296A>T	22.37:g.43231465T>A	ENSP00000263245:p.Asn99Ile		E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Missense_Mutation	SNP	ENST00000263245.5	37	CCDS14042.1	.	.	.	.	.	.	.	.	.	.	T	6.647	0.487825	0.12641	.	.	ENSG00000242247	ENST00000263245;ENST00000435208	T;T	0.44083	0.93;0.93	5.21	-7.31	0.01441	.	0.548090	0.19699	N	0.108090	T	0.41834	0.1176	L	0.35854	1.095	0.51233	D	0.999915	P	0.43314	0.803	P	0.56788	0.806	T	0.64466	-0.6401	10	0.66056	D	0.02	.	11.0737	0.48019	0.0:0.4668:0.1733:0.3599	.	99	Q9NP61	ARFG3_HUMAN	I	99;77	ENSP00000263245:N99I;ENSP00000407734:N77I	ENSP00000263245:N99I	N	-	2	0	ARFGAP3	41561409	0.000000	0.05858	0.000000	0.03702	0.472000	0.32918	-1.543000	0.02194	-2.706000	0.00396	-1.447000	0.01057	AAT		0.453	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570	
BCAN	63827	ucsc.edu;bcgsc.ca	37	1	156626107	156626107	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr1:156626107G>A	ENST00000329117.5	+	9	2312	c.1976G>A	c.(1975-1977)gGg>gAg	p.G659E	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	659	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CACAATGGTGGGACATGCTTG	0.657																																						.											0													81.0	73.0	76.0					1																	156626107		2203	4300	6503	SO:0001583	missense	63827			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1976G>A	1.37:g.156626107G>A	ENSP00000331210:p.Gly659Glu		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.792492	0.70452	.	.	ENSG00000132692	ENST00000329117	D	0.97480	-4.4	5.63	5.63	0.86233	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000004	D	0.99083	0.9685	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99157	1.0860	10	0.56958	D	0.05	-27.3889	18.2473	0.89991	0.0:0.0:1.0:0.0	.	659	Q96GW7	PGCB_HUMAN	E	659	ENSP00000331210:G659E	ENSP00000331210:G659E	G	+	2	0	BCAN	154892731	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.929000	0.48916	2.654000	0.90174	0.561000	0.74099	GGG		0.657	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948	
OR2B11	127623	ucsc.edu	37	1	247615262	247615262	+	Missense_Mutation	SNP	A	A	G	rs35305980|rs397733455	byFrequency	TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr1:247615262A>G	ENST00000318749.6	-	1	46	c.23T>C	c.(22-24)tTc>tCc	p.F8S		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	8						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(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTCCCCTAAGAAGCTATGGTT	0.473																																						.											0													74.0	72.0	73.0					1																	247615262		2167	4183	6350	SO:0001583	missense	127623				CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.23T>C	1.37:g.247615262A>G	ENSP00000325682:p.Phe8Ser		B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	A	0.336	-0.953364	0.02285	.	.	ENSG00000177535	ENST00000318749	T	0.36157	1.27	4.81	-0.489	0.12052	.	1.437710	0.04272	N	0.342190	T	0.17577	0.0422	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15178	-1.0446	10	0.20519	T	0.43	.	4.2883	0.10865	0.4326:0.3673:0.2001:0.0	.	8	Q5JQS5	OR2BB_HUMAN	S	8	ENSP00000325682:F8S	ENSP00000325682:F8S	F	-	2	0	OR2B11	245681885	.	.	0.000000	0.03702	0.071000	0.16799	.	.	-0.162000	0.10964	0.445000	0.29226	TTC		0.473	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492	
SOCS7	30837	ucsc.edu	37	17	36552111	36552111	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr17:36552111T>C	ENST00000577233.1	+	9	1636	c.1636T>C	c.(1636-1638)Tct>Cct	p.S546P	SOCS7_ENST00000331159.5_Missense_Mutation_p.S512P	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	546	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				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)					ACCTCTGATCTCTTATATCCG	0.383																																						.											0													56.0	58.0	57.0					17																	36552111		2203	4300	6503	SO:0001583	missense	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.1636T>C	17.37:g.36552111T>C	ENSP00000464034:p.Ser546Pro		A2VCU2|Q0IJ63	Missense_Mutation	SNP	ENST00000577233.1	37	CCDS32637.1	.	.	.	.	.	.	.	.	.	.	T	11.56	1.674151	0.29693	.	.	ENSG00000174111	ENST00000331159	T	0.47177	0.85	5.93	4.85	0.62838	SOCS protein, C-terminal (4);	0.317412	0.30365	N	0.009799	T	0.58666	0.2138	L	0.58810	1.83	0.44816	D	0.99782	P;D	0.61697	0.773;0.99	P;P	0.60117	0.53;0.869	T	0.56798	-0.7919	10	0.39692	T	0.17	-10.0184	11.323	0.49433	0.1436:0.0:0.0:0.8564	.	262;546	B5MDS8;O14512	.;SOCS7_HUMAN	P	546	ENSP00000330659:S546P	ENSP00000330659:S546P	S	+	1	0	SOCS7	33805637	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.120000	0.41968	1.050000	0.40346	0.533000	0.62120	TCT		0.383	SOCS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440486.4	XM_371052	
TMEM41A	90407	ucsc.edu	37	3	185214712	185214712	+	Silent	SNP	T	T	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr3:185214712T>C	ENST00000421852.1	-	2	272	c.177A>G	c.(175-177)cgA>cgG	p.R59R	TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Silent_p.R59R	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	59						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TCCGGTACTCTCGAAGGACCT	0.587																																						.											0													48.0	46.0	47.0					3																	185214712		2202	4300	6502	SO:0001819	synonymous_variant	90407			BC019884	CCDS3271.1	3q27.2	2006-04-12			ENSG00000163900	ENSG00000163900			30544	protein-coding gene	gene with protein product						12975309	Standard	NM_080652		Approved	MGC15397	uc003fpj.2	Q96HV5	OTTHUMG00000156660	ENST00000421852.1:c.177A>G	3.37:g.185214712T>C			A8K4B3|D3DNU2|Q6ZMJ0	Silent	SNP	ENST00000421852.1	37	CCDS3271.1																																																																																				0.587	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	NM_080652	
TSPEAR	54084	ucsc.edu	37	21	45919681	45919681	+	Silent	SNP	C	C	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr21:45919681C>T	ENST00000323084.4	-	12	2060	c.1995G>A	c.(1993-1995)cgG>cgA	p.R665R		NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	665					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GTGTCCTCAGCCGCAGGACCC	0.706																																						.											0													13.0	14.0	14.0					21																	45919681		2175	4272	6447	SO:0001819	synonymous_variant	54084			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1995G>A	21.37:g.45919681C>T				Silent	SNP	ENST00000323084.4	37	CCDS13712.1																																																																																				0.706	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991	
USP45	85015	ucsc.edu	37	6	99930673	99930673	+	Silent	SNP	T	T	C	rs35004033		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr6:99930673T>C	ENST00000327681.6	-	8	1333	c.801A>G	c.(799-801)aaA>aaG	p.K267K	USP45_ENST00000472914.2_Silent_p.K267K|USP45_ENST00000500704.2_Silent_p.K267K|USP45_ENST00000329966.6_Silent_p.K267K|USP45_ENST00000392738.2_Intron|USP45_ENST00000369233.2_Silent_p.K267K	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	267	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		AAAGTGGTCCTTTTTCAGTCT	0.373																																						.											0													82.0	86.0	84.0					6																	99930673		2203	4300	6503	SO:0001819	synonymous_variant	85015			AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.801A>G	6.37:g.99930673T>C			B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Silent	SNP	ENST00000327681.6	37	CCDS34501.1																																																																																				0.373	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929	
ZCCHC24	219654	ucsc.edu;bcgsc.ca	37	10	81205166	81205166	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr10:81205166C>T	ENST00000372336.3	-	1	217	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	ZCCHC24_ENST00000372333.3_5'Flank	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	11							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						ACCGAGGCGGCGCTCGTGTCG	0.741																																						.											0													8.0	9.0	8.0					10																	81205166		2142	4227	6369	SO:0001583	missense	219654			AK075279	CCDS7359.1	10q22.3	2014-02-20	2008-06-23	2008-06-23	ENSG00000165424	ENSG00000165424		"""Zinc fingers, CCHC domain containing"""	26911	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 8"""		"""chromosome 10 open reading frame 56"""	C10orf56		12477932	Standard	NM_153367		Approved	FLJ90798, Z3CXXC8	uc010qlr.2	Q8N2G6	OTTHUMG00000018561	ENST00000372336.3:c.31G>A	10.37:g.81205166C>T	ENSP00000361411:p.Ala11Thr		Q5U5T9|Q8TAG0	Missense_Mutation	SNP	ENST00000372336.3	37	CCDS7359.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630355	0.67015	.	.	ENSG00000165424	ENST00000372336	T	0.47177	0.85	3.22	3.22	0.36961	.	.	.	.	.	T	0.29716	0.0742	N	0.17082	0.46	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.12889	-1.0530	9	0.49607	T	0.09	-15.0989	8.6306	0.33917	0.0:0.8916:0.0:0.1084	.	11	Q8N2G6	ZCH24_HUMAN	T	11	ENSP00000361411:A11T	ENSP00000361411:A11T	A	-	1	0	ZCCHC24	80875172	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.636000	0.46545	1.645000	0.50612	0.313000	0.20887	GCC		0.741	ZCCHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048947.1	NM_153367	
CPPED1	55313	mdanderson.org	37	16	12875238	12875238	+	Silent	SNP	G	G	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr16:12875238G>A	ENST00000381774.4	-	2	333	c.93C>T	c.(91-93)ggC>ggT	p.G31G	CPPED1_ENST00000261660.4_Silent_p.G31G|CPPED1_ENST00000433677.2_Silent_p.G31G	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	31						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						AGTAGAATGGGCCTTTCCATT	0.478																																						.											0													65.0	64.0	64.0					16																	12875238		1929	4120	6049	SO:0001819	synonymous_variant	55313			AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"""complete S transactivated protein 1"""	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.93C>T	16.37:g.12875238G>A			B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Silent	SNP	ENST00000381774.4	37	CCDS42120.1																																																																																				0.478	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340	
DPAGT1	1798	mdanderson.org	37	11	118967931	118967931	+	Missense_Mutation	SNP	A	A	C			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr11:118967931A>C	ENST00000409993.2	-	10	2633	c.1082T>G	c.(1081-1083)aTg>aGg	p.M361R	DPAGT1_ENST00000432443.2_Missense_Mutation_p.M254R|H2AFX_ENST00000530167.1_5'Flank|DPAGT1_ENST00000354202.4_Missense_Mutation_p.M361R			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	361					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GATGAGGGTCATGTTGTTACA	0.502																																						.											0													311.0	303.0	306.0					11																	118967931		2200	4295	6495	SO:0001583	missense	1798			Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.1082T>G	11.37:g.118967931A>C	ENSP00000386597:p.Met361Arg		O15216|Q86WV9|Q9BWE6	Missense_Mutation	SNP	ENST00000409993.2	37	CCDS8411.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.884402	0.51908	.	.	ENSG00000172269	ENST00000409993;ENST00000354202;ENST00000432443	D;D;D	0.91945	-2.94;-2.94;-2.85	5.38	5.38	0.77491	.	0.036633	0.85682	D	0.000000	D	0.92257	0.7544	M	0.84948	2.725	0.80722	D	1	P;B	0.38300	0.626;0.129	B;B	0.35859	0.212;0.206	D	0.93176	0.6570	10	0.87932	D	0	-23.1756	14.3688	0.66826	1.0:0.0:0.0:0.0	.	254;361	E7EW40;Q9H3H5	.;GPT_HUMAN	R	361;361;254	ENSP00000386597:M361R;ENSP00000346142:M361R;ENSP00000404036:M254R	ENSP00000346142:M361R	M	-	2	0	DPAGT1	118473141	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	8.734000	0.91543	2.254000	0.74563	0.533000	0.62120	ATG		0.502	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382	
FCGBP	8857	mdanderson.org	37	19	40376900	40376900	+	Missense_Mutation	SNP	G	G	T	rs149109818	byFrequency	TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr19:40376900G>T	ENST00000221347.6	-	24	11529	c.11522C>A	c.(11521-11523)gCg>gAg	p.A3841E	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3841	VWFD 9. {ECO:0000255|PROSITE- ProRule:PRU00580}.			A -> E (in Ref. 1; BAA19526). {ECO:0000305}.		extracellular vesicular exosome (GO:0070062)		p.A3841E(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)			GATACAGCCCGCGCTCCCCGG	0.672													t|||	71	0.0141773	0.0197	0.0058	5008	,	,		11441	0.006		0.005	False		,,,				2504	0.0307					.											1	Substitution - Missense(1)	skin(1)											30.0	31.0	30.0					19																	40376900		2165	4277	6442	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.11522C>A	19.37:g.40376900G>T	ENSP00000221347:p.Ala3841Glu		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	t	0.022	-1.412467	0.01145	.	.	ENSG00000090920	ENST00000221347	T	0.20738	2.05	3.75	2.7	0.31948	von Willebrand factor, type D domain (1);	.	.	.	.	T	0.05181	0.0138	N	0.01250	-0.93	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41197	-0.9522	9	0.02654	T	1	.	4.1512	0.10238	0.0:0.1831:0.3633:0.4536	.	3841	Q9Y6R7	FCGBP_HUMAN	E	3841	ENSP00000221347:A3841E	ENSP00000221347:A3841E	A	-	2	0	FCGBP	45068740	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.853000	0.01666	0.007000	0.14760	-0.824000	0.03097	GCG		0.672	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
FRG1B	284802	mdanderson.org	37	20	29631557	29631557	+	Missense_Mutation	SNP	A	A	G	rs11525721		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr20:29631557A>G	ENST00000278882.3	+	7	733	c.353A>G	c.(352-354)aAa>aGa	p.K118R	FRG1B_ENST00000358464.4_Missense_Mutation_p.K118R			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	118								p.K118R(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGTGCTGAAAAAGAAACCAAG	0.333																																						.											2	Substitution - Missense(2)	endometrium(2)																																								SO:0001583	missense	284802					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.353A>G	20.37:g.29631557A>G	ENSP00000278882:p.Lys118Arg		C4AME5	RNA	SNP	ENST00000278882.3	37		.	.	.	.	.	.	.	.	.	.	a	0.014	-1.602257	0.00849	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	2.03	1.07	0.20283	.	0.100689	0.64402	N	0.000003	T	0.12475	0.0303	.	.	.	0.22378	N	0.999156	B	0.02656	0.0	B	0.01281	0.0	T	0.34079	-0.9843	8	0.02654	T	1	.	7.0418	0.25025	0.1556:0.0:0.8444:0.0	rs11525721	118	Q9BZ01	FRG1B_HUMAN	R	118	.	ENSP00000278882:K118R	K	+	2	0	FRG1B	28245218	1.000000	0.71417	0.998000	0.56505	0.630000	0.37929	4.500000	0.60387	0.419000	0.25927	-0.343000	0.07986	AAA		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
HLA-DQB1	3119	mdanderson.org	37	6	32634331	32634331	+	Silent	SNP	G	G	C	rs1049058	byFrequency	TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr6:32634331G>C	ENST00000399082.3	-	1	98	c.54C>G	c.(52-54)gtC>gtG	p.V18V	HLA-DQB1_ENST00000399084.1_Silent_p.V18V|HLA-DQB1_ENST00000374943.4_Silent_p.V18V|HLA-DQB1_ENST00000434651.2_Silent_p.V18V|HLA-DQB1_ENST00000399079.3_Silent_p.V18V			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	18					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""""""Insulin(DB00071)"""	GCATCAAGGTGACAGTTGCTA	0.577									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																												Esophageal Squamous(151;720 1825 15000 40336 43415)	.											0								C		1235,2669		382,471,1099	54.0	52.0	53.0		54	3.2	0.0	6	dbSNP_86	53	3343,4893		1194,955,1969	no	coding-synonymous	HLA-DQB1	NM_002123.4		1576,1426,3068	CC,CG,GG		40.5901,31.6342,37.71		18/262	32634331	4578,7562	1952	4118	6070	SO:0001819	synonymous_variant	3119	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399082.3:c.54C>G	6.37:g.32634331G>C			A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Silent	SNP	ENST00000399082.3	37																																																																																					0.577	HLA-DQB1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000276131.1	NM_002123	
HYDIN	54768	mdanderson.org	37	16	71163579	71163579	+	Silent	SNP	C	C	T	rs929311	byFrequency	TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr16:71163579C>T	ENST00000393567.2	-	9	1341	c.1191G>A	c.(1189-1191)aaG>aaA	p.K397K	HYDIN_ENST00000393550.2_Silent_p.K397K|HYDIN_ENST00000541601.1_Silent_p.K414K|HYDIN_ENST00000448691.1_Silent_p.K397K|HYDIN_ENST00000288168.10_Silent_p.K414K|HYDIN_ENST00000321489.5_Silent_p.K397K|HYDIN_ENST00000448089.2_Silent_p.K397K|HYDIN_ENST00000538248.1_Silent_p.K424K	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	397					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGAAGAACAGCTTGCTGTCTC	0.453																																						.											0													62.0	60.0	61.0					16																	71163579		2198	4300	6498	SO:0001819	synonymous_variant	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.1191G>A	16.37:g.71163579C>T			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																				0.453	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
KRTAP4-8	728224	mdanderson.org	37	17	39254142	39254142	+	Silent	SNP	A	A	G	rs375280428	byFrequency	TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr17:39254142A>G	ENST00000333822.4	-	1	251	c.195T>C	c.(193-195)tgT>tgC	p.C65C		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	65	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						AGCTGGGGCGACAGCAGGTGG	0.657													G|||	2063	0.411941	0.469	0.4352	5008	,	,		13020	0.3234		0.4453	False		,,,				2504	0.3753					.											0													6.0	9.0	8.0					17																	39254142		633	1475	2108	SO:0001819	synonymous_variant	728224			AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.195T>C	17.37:g.39254142A>G			A8MSH3	Silent	SNP	ENST00000333822.4	37	CCDS45674.1																																																																																				0.657	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960	
KRT17	3872	mdanderson.org	37	17	39775939	39775939	+	Splice_Site	SNP	C	C	T			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr17:39775939C>T	ENST00000311208.8	-	8	1273	c.1206G>A	c.(1204-1206)ccG>ccA	p.P402P	JUP_ENST00000540235.1_Splice_Site_p.P561P	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	402	Tail.			LTQYKKEPVT -> FRMSESSPVS (in Ref. 4; AC022596). {ECO:0000305}.	epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GGGTGGTCACCGCTGCAGGAG	0.627																																					Pancreas(92;1242 2086 39193 50508)	.											0													67.0	65.0	66.0					17																	39775939		2203	4300	6503	SO:0001630	splice_region_variant	3872			X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.1205-1G>A	17.37:g.39775939C>T			A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Silent	SNP	ENST00000311208.8	37	CCDS11402.1																																																																																				0.627	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422	Silent
MADCAM1	8174	mdanderson.org	37	19	501786	501786	+	Missense_Mutation	SNP	C	C	A	rs77264553	byFrequency	TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr19:501786C>A	ENST00000215637.3	+	4	831	c.785C>A	c.(784-786)cCg>cAg	p.P262Q	MADCAM1_ENST00000346144.4_Intron|MADCAM1_ENST00000587541.1_Missense_Mutation_p.P43Q|MADCAM1_ENST00000382683.4_Intron|AC005775.2_ENST00000592413.1_RNA	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	262	5.5 X 8 AA tandem repeats of [PS]-P-D-T- T-S-[QP]-E.|Mucin-like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCACCTCCCCGGAGCCTCCC	0.726																																						.											0													21.0	23.0	22.0					19																	501786		2174	4254	6428	SO:0001583	missense	8174			U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6765	protein-coding gene	gene with protein product	"""mucosal addressin cell adhesion molecule-1"""	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.785C>A	19.37:g.501786C>A	ENSP00000215637:p.Pro262Gln		A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Missense_Mutation	SNP	ENST00000215637.3	37	CCDS12028.1	.	.	.	.	.	.	.	.	.	.	c	9.375	1.071453	0.20147	.	.	ENSG00000099866	ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637	T	0.12147	2.71	3.07	-3.57	0.04612	.	3.584140	0.00988	N	0.003486	T	0.04907	0.0132	N	0.03608	-0.345	0.80722	P	0.0	B	0.33073	0.396	B	0.12837	0.008	T	0.24584	-1.0156	9	0.72032	D	0.01	.	3.8366	0.08897	0.3193:0.4698:0.0:0.2109	.	262	Q13477	MADCA_HUMAN	Q	286;278;270;262	ENSP00000215637:P262Q	ENSP00000215637:P262Q	P	+	2	0	MADCAM1	452786	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.770000	0.04705	-0.633000	0.05545	-0.962000	0.02626	CCG		0.726	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	NM_130760	
MUC6	4588	mdanderson.org	37	11	1016684	1016684	+	Silent	SNP	G	G	A			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr11:1016684G>A	ENST00000421673.2	-	31	6167	c.6117C>T	c.(6115-6117)caC>caT	p.H2039H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2039	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTGGCGTTGAGTGGATGGAGG	0.577																																						.											0													547.0	509.0	522.0					11																	1016684		2203	4294	6497	SO:0001819	synonymous_variant	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6117C>T	11.37:g.1016684G>A			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.577	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
MUC5B	727897	mdanderson.org	37	11	1258240	1258241	+	Missense_Mutation	DNP	CA	CA	TG	rs79773885|rs77287508		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr11:1258240_1258241CA>TG	ENST00000529681.1	+	25	3201_3202	c.3143_3144CA>TG	c.(3142-3144)gCA>gTG	p.A1048V	MUC5B_ENST00000447027.1_Missense_Mutation_p.A1051V	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1048	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)		GTGGGGGACGCACTGGAGTTTG	0.668																																						.											0																																										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		Exception_encountered	11.37:g.1258240_1258241delinsTG	ENSP00000436812:p.Ala1048Val		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	DNP	ENST00000529681.1	37	CCDS44515.2																																																																																				0.668	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
PRSS1	5644	mdanderson.org	37	7	142458409	142458409	+	Missense_Mutation	SNP	C	C	G	rs200665515		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr7:142458409C>G	ENST00000311737.7	+	2	50	c.44C>G	c.(43-45)gCt>gGt	p.A15G	PRSS1_ENST00000486171.1_Missense_Mutation_p.A15G	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	15					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)	ACTCCAGTTGCTGCCCCCTTT	0.502																																						.											0													160.0	163.0	162.0					7																	142458409		2203	4300	6503	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.44C>G	7.37:g.142458409C>G	ENSP00000308720:p.Ala15Gly		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.776823	0.70107	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.92752	-3.1;-3.1	3.49	3.49	0.39957	Peptidase cysteine/serine, trypsin-like (1);	0.048314	0.85682	D	0.000000	D	0.91915	0.7440	L	0.46614	1.455	0.51767	D	0.999935	P	0.50943	0.94	P	0.52424	0.698	D	0.92471	0.5985	10	0.56958	D	0.05	.	14.3966	0.67015	0.0:1.0:0.0:0.0	.	15	P07477	TRY1_HUMAN	G	15	ENSP00000417854:A15G;ENSP00000308720:A15G	ENSP00000308720:A15G	A	+	2	0	PRSS1	142137983	1.000000	0.71417	0.112000	0.21494	0.035000	0.12851	4.608000	0.61141	1.879000	0.54435	0.404000	0.27445	GCT		0.502	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2		
PRSS1	5644	mdanderson.org	37	7	142458412	142458412	+	Missense_Mutation	SNP	C	C	T	rs202003805		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr7:142458412C>T	ENST00000311737.7	+	2	53	c.47C>T	c.(46-48)gCc>gTc	p.A16V	PRSS1_ENST00000486171.1_Missense_Mutation_p.A16V	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	16			A -> V (in PCTT; disrupts signal sequence cleavage site). {ECO:0000269|PubMed:10381903}.		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)	CCAGTTGCTGCCCCCTTTGAT	0.507																																						.											0			GRCh37	CM993429	PRSS1	M							161.0	163.0	162.0					7																	142458412		2203	4300	6503	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.47C>T	7.37:g.142458412C>T	ENSP00000308720:p.Ala16Val		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	C	5.455	0.268997	0.10349	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.93133	-3.17;-3.17	3.49	0.989	0.19802	Peptidase cysteine/serine, trypsin-like (1);	0.446479	0.27622	N	0.018559	D	0.84197	0.5419	L	0.28054	0.825	0.25694	N	0.985655	B	0.02656	0.0	B	0.06405	0.002	T	0.67027	-0.5774	10	0.11794	T	0.64	.	7.0429	0.25031	0.0:0.2125:0.0:0.7875	.	16	P07477	TRY1_HUMAN	V	16	ENSP00000417854:A16V;ENSP00000308720:A16V	ENSP00000308720:A16V	A	+	2	0	PRSS1	142137986	0.014000	0.17966	0.005000	0.12908	0.025000	0.11179	0.750000	0.26334	0.076000	0.16826	-0.490000	0.04691	GCC		0.507	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2		
ZNF812	729648	bcgsc.ca	37	19	9801747	9801747	+	Missense_Mutation	SNP	T	T	G			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr19:9801747T>G	ENST00000457674.2	-	5	950	c.432A>C	c.(430-432)aaA>aaC	p.K144N	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	144					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1						AGGTGAAGACTTTTCCACATG	0.383																																						.											0																																										SO:0001583	missense	729648				CCDS54215.1	19p13.2	2014-04-02			ENSG00000224689	ENSG00000224689		"""Zinc fingers, C2H2-type"", ""-"""	33242	protein-coding gene	gene with protein product							Standard	NM_001199814		Approved		uc021uop.1	P0C7V5	OTTHUMG00000167867	ENST00000457674.2:c.432A>C	19.37:g.9801747T>G	ENSP00000395629:p.Lys144Asn			Missense_Mutation	SNP	ENST00000457674.2	37	CCDS54215.1	.	.	.	.	.	.	.	.	.	.	t	11.08	1.534356	0.27475	.	.	ENSG00000224689	ENST00000457674	T	0.36340	1.26	1.42	0.279	0.15677	.	.	.	.	.	T	0.48978	0.1530	H	0.97103	3.94	0.23464	N	0.997622	B	0.17852	0.024	B	0.12156	0.007	T	0.53927	-0.8369	9	0.72032	D	0.01	.	5.4919	0.16781	0.0:0.0:0.286:0.714	.	144	P0C7V5	ZN812_HUMAN	N	144	ENSP00000395629:K144N	ENSP00000395629:K144N	K	-	3	2	ZNF812	9662747	0.001000	0.12720	0.000000	0.03702	0.273000	0.26683	0.176000	0.16782	0.008000	0.14787	0.164000	0.16699	AAA		0.383	ZNF812-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396726.1		
UBLCP1	134510	bcgsc.ca	37	5	158696939	158696939	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr5:158696939A>G	ENST00000296786.6	+	3	504	c.178A>G	c.(178-180)Aag>Gag	p.K60E		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	60	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAATGATGTTAAGCTTGGAGC	0.363																																						.											0													92.0	88.0	89.0					5																	158696939		2203	4300	6503	SO:0001583	missense	134510			AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	28110	protein-coding gene	gene with protein product	"""CTD phosphatase-like with ubiquitin domain 1"""	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.178A>G	5.37:g.158696939A>G	ENSP00000296786:p.Lys60Glu		D3DQJ7|Q96DK5	Missense_Mutation	SNP	ENST00000296786.6	37	CCDS4345.1	.	.	.	.	.	.	.	.	.	.	A	8.757	0.922724	0.18056	.	.	ENSG00000164332	ENST00000296786	T	0.73363	-0.74	6.06	6.06	0.98353	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	L	0.28608	0.87	0.80722	D	1	B	0.28584	0.216	B	0.27887	0.084	T	0.59451	-0.7452	10	0.02654	T	1	-15.8829	16.6245	0.84952	1.0:0.0:0.0:0.0	.	60	Q8WVY7	UBCP1_HUMAN	E	60	ENSP00000296786:K60E	ENSP00000296786:K60E	K	+	1	0	UBLCP1	158629517	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.323000	0.78572	0.528000	0.53228	AAG		0.363	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2	NM_145049	
HLA-DQB1	3119	bcgsc.ca	37	6	32634350	32634350	+	Missense_Mutation	SNP	T	T	C	rs1049057	byFrequency	TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr6:32634350T>C	ENST00000399082.3	-	1	79	c.35A>G	c.(34-36)gAc>gGc	p.D12G	HLA-DQB1_ENST00000399084.1_Missense_Mutation_p.D12G|HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.D12G|HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.D12G|HLA-DQB1_ENST00000399079.3_Missense_Mutation_p.D12G			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	12			G -> D (in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*06:02 and allele DQB1*06:12; dbSNP:rs1049057).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""""""Insulin(DB00071)"""	TACCCGAAGGTCTCCGGGGAT	0.562									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				t|||	3031	0.605232	0.4818	0.7089	5008	,	,		11450	0.6657		0.5755	False		,,,				2504	0.6667				Esophageal Squamous(151;720 1825 15000 40336 43415)	.											0								C	GLY/ASP	1428,2438		461,506,966	50.0	48.0	49.0		35	1.7	0.0	6	dbSNP_86	49	3721,4489		1409,903,1793	yes	missense	HLA-DQB1	NM_002123.4	94	1870,1409,2759	CC,CT,TT		45.3228,36.9374,42.6383	benign	12/262	32634350	5149,6927	1933	4105	6038	SO:0001583	missense	3119	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399082.3:c.35A>G	6.37:g.32634350T>C	ENSP00000382032:p.Asp12Gly		A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Missense_Mutation	SNP	ENST00000399082.3	37		1225	0.5608974358974359	193	0.39227642276422764	236	0.6519337016574586	398	0.6958041958041958	398	0.525065963060686	.	0.021	-1.421267	0.01126	0.369374	0.453228	ENSG00000179344	ENST00000399082;ENST00000399079;ENST00000374943;ENST00000434651;ENST00000399084;ENST00000447884	T;T;T;T;T	0.03386	3.95;8.5;8.5;8.5;8.5	3.59	1.68	0.24146	.	.	.	.	.	T	0.00384	0.0012	.	.	.	0.80722	P	0.0	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.44081	-0.9351	7	0.02654	T	1	.	3.1383	0.06447	0.2174:0.5424:0.0:0.2402	rs1049057;rs3189133;rs9274521;rs12722099;rs16868461	22;12;12;12	Q59F80;A2AAZ0;Q5Y7D6;Q5Y7A9	.;.;.;.	G	12	ENSP00000382032:D12G;ENSP00000382029:D12G;ENSP00000364080:D12G;ENSP00000407332:D12G;ENSP00000382034:D12G	ENSP00000364080:D12G	D	-	2	0	HLA-DQB1	32742328	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.328000	0.19681	0.003000	0.14656	-0.368000	0.07277	GAC		0.562	HLA-DQB1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000276131.1	NM_002123	
GDF6	392255	bcgsc.ca	37	8	97172838	97172838	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chr8:97172838A>G	ENST00000287020.5	-	1	182	c.83T>C	c.(82-84)aTc>aCc	p.I28T		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	28	Poly-Ser.				activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|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 transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GGAGGATGAGATGGAAGCCTG	0.642																																						.											0													52.0	60.0	57.0					8																	97172838		2203	4300	6503	SO:0001583	missense	392255				CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"""segmentation syndrome 1"""	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.83T>C	8.37:g.97172838A>G	ENSP00000287020:p.Ile28Thr		Q6PI58	Missense_Mutation	SNP	ENST00000287020.5	37	CCDS34926.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.734736	0.69189	.	.	ENSG00000156466	ENST00000287020;ENST00000454970;ENST00000435084	D	0.85013	-1.93	4.34	4.34	0.51931	.	8.071360	0.00639	N	0.000509	D	0.86268	0.5892	N	0.14661	0.345	0.38158	D	0.938942	D	0.69078	0.997	P	0.60789	0.879	T	0.75328	-0.3356	10	0.54805	T	0.06	.	11.0331	0.47785	1.0:0.0:0.0:0.0	.	28	Q6KF10	GDF6_HUMAN	T	28	ENSP00000287020:I28T	ENSP00000287020:I28T	I	-	2	0	GDF6	97242014	1.000000	0.71417	0.992000	0.48379	0.750000	0.42670	7.816000	0.86201	1.585000	0.49928	0.421000	0.28195	ATC		0.642	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557	
MAGEB6	158809	bcgsc.ca	37	X	26212262	26212262	+	Missense_Mutation	SNP	C	C	T	rs4272533		TCGA-KL-8342-01A-11D-2310-10	TCGA-KL-8342-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	f38fc6ac-2af8-4d89-a514-4e2c5fdf08de	0d9307db-aee2-48b3-a11e-d570b626f1a0	g.chrX:26212262C>T	ENST00000379034.1	+	2	448	c.299C>T	c.(298-300)gCc>gTc	p.A100V		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	100	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TCCCGTGATGCCTCCGTTCCT	0.532													.|||	410	0.108609	0.0272	0.0807	3775	,	,		13813	0.1052		0.0775	False		,,,				2504	0.137					.											0													88.0	80.0	83.0					X																	26212262		2196	4255	6451	SO:0001583	missense	158809			AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.299C>T	X.37:g.26212262C>T	ENSP00000368320:p.Ala100Val		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	CCDS14217.1	113	0.06811332127787824	6	0.012605042016806723	8	0.023391812865497075	24	0.045112781954887216	26	0.03581267217630854	C	6.563	0.472197	0.12461	.	.	ENSG00000176746	ENST00000379034	T	0.01902	4.57	1.26	1.26	0.21427	.	.	.	.	.	T	0.00328	0.0010	N	0.24115	0.695	0.80722	P	0.0	D	0.54772	0.968	B	0.42361	0.385	T	0.49725	-0.8909	8	0.19147	T	0.46	.	5.486	0.16749	0.0:1.0:0.0:0.0	rs4272533;rs52789792;rs4272533	100	Q8N7X4	MAGB6_HUMAN	V	100	ENSP00000368320:A100V	ENSP00000368320:A100V	A	+	2	0	MAGEB6	26122183	0.001000	0.12720	0.004000	0.12327	0.007000	0.05969	0.228000	0.17814	0.914000	0.36822	0.550000	0.68814	GCC		0.532	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523	
