#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ALDH16A1	126133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49972161	49972161	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr19:49972161T>A	ENST00000293350.4	+	16	2328	c.2165T>A	c.(2164-2166)gTg>gAg	p.V722E	ALDH16A1_ENST00000455361.2_Missense_Mutation_p.V671E|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.V557E|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.V559E|CTD-3148I10.9_ENST00000599536.1_Intron	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	722						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.V722E(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GCCAACGTGGTGACAGGAGAC	0.612																																																	1	Substitution - Missense(1)	kidney(1)											145.0	128.0	134.0					19																	49972161		2203	4300	6503	SO:0001583	missense	126133			AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.2165T>A	19.37:g.49972161T>A	ENSP00000293350:p.Val722Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	ENST00000293350.4	37	CCDS12766.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.114398	0.77210	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.8	4.8	0.61643	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.549086	0.18289	N	0.145764	T	0.70527	0.3234	M	0.92649	3.33	0.37655	D	0.922564	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.948;0.998;0.969	T	0.79412	-0.1814	10	0.87932	D	0	-18.1566	11.063	0.47959	0.0:0.0:0.0:1.0	.	559;671;722	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	E	722;671;559;557	ENSP00000293350:V722E;ENSP00000410142:V671E;ENSP00000445088:V559E;ENSP00000398675:V557E	ENSP00000293350:V722E	V	+	2	0	ALDH16A1	54663973	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.016000	0.49607	1.937000	0.56155	0.374000	0.22700	GTG		0.612	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1		NM_153329	
ARFGEF2	10564	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	47605030	47605030	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr20:47605030delA	ENST00000371917.4	+	18	2364	c.2364delA	c.(2362-2364)gtafs	p.V788fs		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	788					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AATTACAGGTAAAAAATAAAA	0.294																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0													33.0	36.0	35.0					20																	47605030		2164	4282	6446	SO:0001589	frameshift_variant	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2364delA	20.37:g.47605030delA	ENSP00000360985:p.Val788fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TFT9|Q9NTS1	Frame_Shift_Del	DEL	ENST00000371917.4	37	CCDS13411.1																																																																																				0.294	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1		NM_006420	
ARFGEF2	10564	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	47605033	47605057	+	Frame_Shift_Del	DEL	AAATAAAATGACGAAAGAGCAGTAT	AAATAAAATGACGAAAGAGCAGTAT	-	rs148252934|rs532986318|rs550947400		TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	AAATAAAATGACGAAAGAGCAGTAT	AAATAAAATGACGAAAGAGCAGTAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr20:47605033_47605057delAAATAAAATGACGAAAGAGCAGTAT	ENST00000371917.4	+	18	2367_2391	c.2367_2391delAAATAAAATGACGAAAGAGCAGTAT	c.(2365-2391)aaaaataaaatgacgaaagagcagtatfs	p.KNKMTKEQY789fs		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	789					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)	p.K794E(2)|p.T793R(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TACAGGTAAAAAATAAAATGACGAAAGAGCAGTATATTAAAATGA	0.293																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												3	Substitution - Missense(3)	breast(2)|ovary(1)																																								SO:0001589	frameshift_variant	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2367_2391delAAATAAAATGACGAAAGAGCAGTAT	20.37:g.47605033_47605057delAAATAAAATGACGAAAGAGCAGTAT	ENSP00000360985:p.Lys789fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TFT9|Q9NTS1	Frame_Shift_Del	DEL	ENST00000371917.4	37	CCDS13411.1																																																																																				0.293	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1		NM_006420	
ARFGEF2	10564	broad.mit.edu;ucsc.edu	37	20	47605027	47605027	+	Splice_Site	DEL	G	G	-			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr20:47605027delG	ENST00000371917.4	+	18	2361		c.e18-1			NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)						endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TTTAATTACAGGTAAAAAATA	0.289																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0													32.0	35.0	34.0					20																	47605027		2167	4283	6450	SO:0001630	splice_region_variant	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2362-1G>-	20.37:g.47605027delG		Somatic		WXS	Illumina GAIIx	Phase_I	Q5TFT9|Q9NTS1	Splice_Site	DEL	ENST00000371917.4	37	CCDS13411.1																																																																																				0.289	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1		NM_006420	Intron
ARFGEF2	10564	hgsc.bcm.edu	37	20	47605035	47605035	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr20:47605035A>T	ENST00000371917.4	+	18	2369	c.2369A>T	c.(2368-2370)aAt>aTt	p.N790I		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	790					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CAGGTAAAAAATAAAATGACG	0.284																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0													35.0	39.0	37.0					20																	47605035		2170	4285	6455	SO:0001583	missense	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2369A>T	20.37:g.47605035A>T	ENSP00000360985:p.Asn790Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.510971	0.85389	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.57595	0.39	5.73	5.73	0.89815	SEC7-like, alpha orthogonal bundle (1);Armadillo-type fold (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.77039	0.4072	M	0.89840	3.065	0.80722	D	1	D	0.57257	0.979	D	0.66196	0.942	T	0.82129	-0.0610	10	0.72032	D	0.01	.	16.3265	0.82983	1.0:0.0:0.0:0.0	.	790	Q9Y6D5	BIG2_HUMAN	I	790	ENSP00000360985:N790I	ENSP00000360985:N790I	N	+	2	0	ARFGEF2	47038442	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.287000	0.95975	2.313000	0.78055	0.455000	0.32223	AAT		0.284	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1		NM_006420	
ARFGEF2	10564	hgsc.bcm.edu	37	20	47605057	47605057	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr20:47605057T>A	ENST00000371917.4	+	18	2391	c.2391T>A	c.(2389-2391)taT>taA	p.Y797*		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	797					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AAGAGCAGTATATTAAAATGA	0.303																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0													50.0	54.0	53.0					20																	47605057		2198	4298	6496	SO:0001587	stop_gained	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2391T>A	20.37:g.47605057T>A	ENSP00000360985:p.Tyr797*	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TFT9|Q9NTS1	Nonsense_Mutation	SNP	ENST00000371917.4	37	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	T	38	7.053603	0.98029	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	.	.	.	5.74	3.47	0.39725	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8162	0.40853	0.0:0.2531:0.0:0.7469	.	.	.	.	X	797	.	ENSP00000360985:Y797X	Y	+	3	2	ARFGEF2	47038464	0.995000	0.38212	1.000000	0.80357	0.993000	0.82548	0.366000	0.20365	0.524000	0.28502	0.460000	0.39030	TAT		0.303	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1		NM_006420	
FAM208B	54906	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	5800947	5800947	+	Missense_Mutation	SNP	A	A	T	rs202125233		TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr10:5800947A>T	ENST00000328090.5	+	18	7609	c.6984A>T	c.(6982-6984)gaA>gaT	p.E2328D		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2328								p.E2328D(1)									AGCTAAAAGAAGATGAAAGGT	0.433																																																	1	Substitution - Missense(1)	kidney(1)						A	ASP/GLU	3,3891		0,3,1944	74.0	73.0	74.0		6984	2.8	0.5	10		74	1,8253		0,1,4126	yes	missense	FAM208B	NM_017782.4	45	0,4,6070	TT,TA,AA		0.0121,0.077,0.0329	possibly-damaging	2328/2431	5800947	4,12144	1947	4127	6074	SO:0001583	missense	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.6984A>T	10.37:g.5800947A>T	ENSP00000328426:p.Glu2328Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	A	10.36	1.329517	0.24167	7.7E-4	1.21E-4	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.24350	1.86	5.5	2.78	0.32641	.	0.000000	0.64402	D	0.000005	T	0.26085	0.0636	M	0.80183	2.485	0.24273	N	0.995232	P	0.47962	0.903	B	0.41236	0.351	T	0.36383	-0.9750	10	0.59425	D	0.04	.	2.5089	0.04652	0.5955:0.142:0.1247:0.1379	.	2328	Q5VWN6	F208B_HUMAN	D	2328;1523	ENSP00000328426:E2328D	ENSP00000328426:E2328D	E	+	3	2	C10orf18	5840953	0.884000	0.30299	0.503000	0.27626	0.011000	0.07611	1.551000	0.36233	0.888000	0.36160	-0.321000	0.08615	GAA		0.433	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2		NM_017782	
C14orf37	145407	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	58563699	58563699	+	Splice_Site	SNP	T	T	C			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr14:58563699T>C	ENST00000267485.7	-	5	2026	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G		NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	611	Glu-rich.					integral component of membrane (GO:0016021)		p.E611G(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						ttcttGTCCCTCTAGGCAAAA	0.363																																																	1	Substitution - Missense(1)	kidney(1)											141.0	110.0	121.0					14																	58563699		2203	4300	6503	SO:0001630	splice_region_variant	145407				CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1832-1A>G	14.37:g.58563699T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	T	9.903	1.207475	0.22205	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.22539	1.95	4.97	4.97	0.65823	.	0.438115	0.21450	N	0.074357	T	0.34308	0.0893	L	0.28740	0.885	0.37938	D	0.932226	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.26018	-1.0115	10	0.56958	D	0.05	.	13.7737	0.63039	0.0:0.0:0.0:1.0	.	649;611;611	B4DMS4;A8K990;Q86TY3	.;.;CN037_HUMAN	G	611;649	ENSP00000267485:E611G	ENSP00000267485:E611G	E	-	2	0	C14orf37	57633452	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	5.125000	0.64715	1.985000	0.57927	0.459000	0.35465	GAG		0.363	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1		NM_001001872	Missense_Mutation
C5	727	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	123745015	123745015	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr9:123745015G>A	ENST00000223642.1	-	26	3337	c.3308C>T	c.(3307-3309)tCt>tTt	p.S1103F		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1103					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.S1103F(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	CCACAATAAAGAATTACAAAT	0.289																																																	1	Substitution - Missense(1)	kidney(1)											58.0	59.0	59.0					9																	123745015		2202	4286	6488	SO:0001583	missense	727			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.3308C>T	9.37:g.123745015G>A	ENSP00000223642:p.Ser1103Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418609	0.62622	.	.	ENSG00000106804	ENST00000223642	T	0.38887	1.11	5.42	5.42	0.78866	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.350657	0.30538	N	0.009408	T	0.66096	0.2755	M	0.88775	2.98	0.39848	D	0.973209	D	0.55172	0.97	P	0.59424	0.857	T	0.74417	-0.3672	10	0.87932	D	0	.	13.886	0.63708	0.0:0.1526:0.8474:0.0	.	1103	P01031	CO5_HUMAN	F	1103	ENSP00000223642:S1103F	ENSP00000223642:S1103F	S	-	2	0	C5	122784836	0.997000	0.39634	0.973000	0.42090	0.868000	0.49771	3.573000	0.53856	2.551000	0.86045	0.484000	0.47621	TCT		0.289	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1		NM_001735	
CD180	4064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	66478939	66478939	+	Missense_Mutation	SNP	G	G	T	rs370285296		TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr5:66478939G>T	ENST00000256447.4	-	3	1889	c.1732C>A	c.(1732-1734)Ccc>Acc	p.P578T	CTD-2306M10.1_ENST00000602471.1_lincRNA	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	578	LRRCT.				B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P578T(1)		cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		CAGTCCAGGGGGTTATGACTT	0.483																																																	1	Substitution - Missense(1)	kidney(1)											84.0	80.0	81.0					5																	66478939		2203	4300	6503	SO:0001583	missense	4064			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.1732C>A	5.37:g.66478939G>T	ENSP00000256447:p.Pro578Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B2R7Z7|Q32MM5	Missense_Mutation	SNP	ENST00000256447.4	37	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429982	0.62844	.	.	ENSG00000134061	ENST00000256447	T	0.29917	1.55	5.9	5.9	0.94986	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.64402	D	0.000002	T	0.56702	0.2003	M	0.72624	2.21	0.80722	D	1	D	0.89917	1.0	D	0.65987	0.94	T	0.54569	-0.8274	10	0.56958	D	0.05	.	20.2723	0.98479	0.0:0.0:1.0:0.0	.	578	Q99467	CD180_HUMAN	T	578	ENSP00000256447:P578T	ENSP00000256447:P578T	P	-	1	0	CD180	66514695	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	6.917000	0.75782	2.793000	0.96121	0.563000	0.77884	CCC		0.483	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2		NM_005582	
CYP4F2	8529	broad.mit.edu;hgsc.bcm.edu	37	19	15989682	15989682	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr19:15989682G>A	ENST00000221700.6	-	13	1557	c.1462C>T	c.(1462-1464)Cgc>Tgc	p.R488C		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.R488C(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACGCGGAAGCGCAGCAGCGTG	0.682																																																	1	Substitution - Missense(1)	kidney(1)											44.0	41.0	42.0					19																	15989682		2203	4300	6503	SO:0001583	missense	8529			U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1462C>T	19.37:g.15989682G>A	ENSP00000221700:p.Arg488Cys	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000221700.6	37	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	g	12.94	2.088328	0.36855	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.71103	-0.54	2.63	1.41	0.22369	.	0.173875	0.35235	U	0.003349	T	0.71082	0.3298	M	0.82716	2.605	0.80722	D	1	B	0.34255	0.445	B	0.39971	0.315	T	0.74022	-0.3798	10	0.87932	D	0	.	6.4858	0.22087	0.0:0.0:0.5554:0.4446	.	488	P78329	CP4F2_HUMAN	C	488;339	ENSP00000221700:R488C	ENSP00000221700:R488C	R	-	1	0	CYP4F2	15850682	0.649000	0.27322	0.996000	0.52242	0.524000	0.34500	1.811000	0.38942	1.453000	0.47775	0.491000	0.48974	CGC		0.682	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3		NM_001082	
DMRT2	10655	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	1056689	1056689	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr9:1056689C>G	ENST00000358146.2	+	3	1102	c.1102C>G	c.(1102-1104)Caa>Gaa	p.Q368E	DMRT2_ENST00000302441.6_Missense_Mutation_p.Q368E|DMRT2_ENST00000382251.3_Missense_Mutation_p.Q368E|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000259622.6_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	368					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q368E(1)		large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CACCTCAGTTCAAGCCCTGAA	0.542																																																	1	Substitution - Missense(1)	kidney(1)											79.0	80.0	80.0					9																	1056689		2203	4300	6503	SO:0001583	missense	10655			AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"""terra-like protein"""	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.1102C>G	9.37:g.1056689C>G	ENSP00000350865:p.Gln368Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Missense_Mutation	SNP	ENST00000358146.2	37	CCDS6444.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972330	0.74246	.	.	ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146	T;T;T	0.58940	0.3;0.3;0.3	5.78	5.78	0.91487	.	0.113546	0.64402	D	0.000009	T	0.58495	0.2126	M	0.64404	1.975	0.58432	D	0.999999	P;P	0.38195	0.622;0.461	B;B	0.35182	0.097;0.197	T	0.62282	-0.6887	10	0.56958	D	0.05	-8.7469	19.6222	0.95663	0.0:1.0:0.0:0.0	.	368;212	Q9Y5R5;Q5HYK2	DMRT2_HUMAN;.	E	368	ENSP00000371686:Q368E;ENSP00000305785:Q368E;ENSP00000350865:Q368E	ENSP00000305785:Q368E	Q	+	1	0	DMRT2	1046689	1.000000	0.71417	0.910000	0.35882	0.997000	0.91878	7.286000	0.78671	2.742000	0.94016	0.650000	0.86243	CAA		0.542	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1		NM_006557	
DYSF	8291	broad.mit.edu;ucsc.edu	37	2	71738941	71738941	+	Missense_Mutation	SNP	C	C	G	rs199677396	byFrequency	TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr2:71738941C>G	ENST00000258104.3	+	5	624	c.347C>G	c.(346-348)tCg>tGg	p.S116W	DYSF_ENST00000409582.3_Missense_Mutation_p.S116W|DYSF_ENST00000409651.1_Missense_Mutation_p.S117W|DYSF_ENST00000413539.2_Missense_Mutation_p.S116W|DYSF_ENST00000410041.1_Missense_Mutation_p.S117W|DYSF_ENST00000429174.2_Missense_Mutation_p.S116W|DYSF_ENST00000409744.1_Missense_Mutation_p.S117W|DYSF_ENST00000409762.1_Missense_Mutation_p.S116W|DYSF_ENST00000394120.2_Missense_Mutation_p.S117W|DYSF_ENST00000409366.1_Missense_Mutation_p.S117W|DYSF_ENST00000410020.3_Missense_Mutation_p.S117W	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	116					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.S116W(1)|p.S117W(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTCCAGGCCTCGCTGGTCCTG	0.642																																																	2	Substitution - Missense(2)	kidney(2)											51.0	41.0	44.0					2																	71738941		1895	3624	5519	SO:0001583	missense	8291			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.347C>G	2.37:g.71738941C>G	ENSP00000258104:p.Ser116Trp	Somatic		WXS	Illumina GAIIx	Phase_I	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733460	0.69189	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	4.55	4.55	0.56014	C2 calcium/lipid-binding domain, CaLB (1);	0.076713	0.53938	D	0.000057	T	0.76786	0.4036	L	0.40543	1.245	0.58432	D	0.999994	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.998;0.998;0.996;0.998;0.998;0.998;0.999;0.999;0.999;0.998;0.996;0.993	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.72625	0.931;0.978;0.978;0.978;0.931;0.967;0.978;0.931;0.978;0.96;0.931;0.978;0.978;0.951	T	0.78723	-0.2093	10	0.72032	D	0.01	-12.6671	12.686	0.56948	0.0:1.0:0.0:0.0	.	117;117;117;117;117;117;116;116;116;116;116;116;117;116	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	W	116;116;116;116;116;117;117;117;117;117;117	ENSP00000407046:S116W;ENSP00000387137:S116W;ENSP00000386547:S116W;ENSP00000398305:S116W;ENSP00000258104:S116W;ENSP00000386683:S117W;ENSP00000377678:S117W;ENSP00000386285:S117W;ENSP00000386512:S117W;ENSP00000386881:S117W;ENSP00000386617:S117W	ENSP00000258104:S116W	S	+	2	0	DYSF	71592449	0.983000	0.35010	0.992000	0.48379	0.832000	0.47134	2.544000	0.45761	2.358000	0.79984	0.549000	0.68633	TCG		0.642	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3		NM_003494	
EYS	346007	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	65655781	65655781	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr6:65655781A>C	ENST00000370621.3	-	15	2812	c.2286T>G	c.(2284-2286)gaT>gaG	p.D762E	EYS_ENST00000370616.2_Missense_Mutation_p.D762E|EYS_ENST00000503581.1_Missense_Mutation_p.D762E			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	762	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.D762E(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTCCTTCCCAATCAGATAGGC	0.348																																																	1	Substitution - Missense(1)	kidney(1)											199.0	164.0	174.0					6																	65655781		692	1591	2283	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.2286T>G	6.37:g.65655781A>C	ENSP00000359655:p.Asp762Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	A	5.813	0.334270	0.11013	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.87491	-2.05;-2.26;-2.26	4.7	0.899	0.19271	.	.	.	.	.	T	0.54902	0.1887	N	0.11000	0.08	0.80722	D	1	B	0.18310	0.027	B	0.16289	0.015	T	0.49021	-0.8982	9	0.72032	D	0.01	.	3.3062	0.07001	0.5324:0.0:0.2963:0.1713	.	762	Q5T1H1-1	.	E	762	ENSP00000424243:D762E;ENSP00000359655:D762E;ENSP00000359650:D762E	ENSP00000359650:D762E	D	-	3	2	EYS	65712502	0.841000	0.29509	0.254000	0.24359	0.024000	0.10985	-0.062000	0.11674	-0.083000	0.12618	-1.590000	0.00845	GAT		0.348	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3		XM_294050	
FREM1	158326	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	14748599	14748599	+	Missense_Mutation	SNP	G	G	T	rs528734964		TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr9:14748599G>T	ENST00000380880.3	-	31	6379	c.5596C>A	c.(5596-5598)Cac>Aac	p.H1866N	FREM1_ENST00000422223.2_Missense_Mutation_p.H1866N|FREM1_ENST00000380894.1_Missense_Mutation_p.H402N|FREM1_ENST00000380881.4_Missense_Mutation_p.H1867N			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1866					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.H1867N(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CATGTGCTGTGCTTGCTTTGG	0.493																																																	1	Substitution - Missense(1)	kidney(1)											241.0	251.0	248.0					9																	14748599		2077	4207	6284	SO:0001583	missense	158326			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5596C>A	9.37:g.14748599G>T	ENSP00000370262:p.His1866Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607440	0.28623	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	T;T;T;T	0.13089	2.89;2.89;2.62;2.89	6.04	2.8	0.32819	.	0.714636	0.14626	N	0.308125	T	0.10508	0.0257	L	0.44542	1.39	0.21499	N	0.999663	B;B	0.24092	0.004;0.097	B;B	0.16722	0.005;0.016	T	0.26467	-1.0102	10	0.29301	T	0.29	-2.4794	5.8603	0.18743	0.1727:0.0:0.5453:0.282	.	1866;402	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	N	1867;1866;402;1866	ENSP00000370263:H1867N;ENSP00000412940:H1866N;ENSP00000370278:H402N;ENSP00000370262:H1866N	ENSP00000370262:H1866N	H	-	1	0	FREM1	14738599	0.916000	0.31088	0.934000	0.37439	0.729000	0.41735	1.180000	0.32005	0.843000	0.35070	-0.397000	0.06425	CAC		0.493	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2		NM_144966	
GPR15	2838	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	98251797	98251797	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr3:98251797G>T	ENST00000284311.3	+	1	1055	c.920G>T	c.(919-921)aGc>aTc	p.S307I		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	307					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.S307I(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		ATCTTCGACAGCTACATCCGC	0.478																																																	1	Substitution - Missense(1)	kidney(1)											84.0	85.0	85.0					3																	98251797		2203	4300	6503	SO:0001583	missense	2838				CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.920G>T	3.37:g.98251797G>T	ENSP00000284311:p.Ser307Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	37	CCDS2931.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455577	0.26161	.	.	ENSG00000154165	ENST00000284311	T	0.39787	1.06	5.08	4.18	0.49190	.	0.572562	0.16512	N	0.211211	T	0.25606	0.0623	N	0.24115	0.695	0.20196	N	0.999922	P	0.44877	0.845	B	0.31751	0.135	T	0.06427	-1.0827	10	0.39692	T	0.17	-3.5725	13.491	0.61395	0.0:0.158:0.842:0.0	.	307	P49685	GPR15_HUMAN	I	307	ENSP00000284311:S307I	ENSP00000284311:S307I	S	+	2	0	GPR15	99734487	0.006000	0.16342	0.960000	0.40013	0.875000	0.50365	1.478000	0.35442	1.470000	0.48102	0.655000	0.94253	AGC		0.478	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1			
GRIN2B	2904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	13761600	13761600	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr12:13761600G>T	ENST00000609686.1	-	9	2156	c.1947C>A	c.(1945-1947)aaC>aaA	p.N649K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	649					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.N649K(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGGCAGCTAAGTTGGCAGTGT	0.507																																																	1	Substitution - Missense(1)	kidney(1)											130.0	110.0	117.0					12																	13761600		2203	4300	6503	SO:0001583	missense	2904				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1947C>A	12.37:g.13761600G>T	ENSP00000477455:p.Asn649Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648761	0.67358	.	.	ENSG00000150086	ENST00000279593	T	0.60797	0.16	5.57	3.75	0.43078	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.74405	0.3712	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75687	-0.3231	10	0.87932	D	0	.	10.2274	0.43233	0.2676:0.0:0.7324:0.0	.	649	Q13224	NMDE2_HUMAN	K	649	ENSP00000279593:N649K	ENSP00000279593:N649K	N	-	3	2	GRIN2B	13652867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.462000	0.45049	0.709000	0.31976	0.655000	0.94253	AAC		0.507	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			
IFNL3	282617	broad.mit.edu;hgsc.bcm.edu	37	19	39735134	39735134	+	Splice_Site	SNP	C	C	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr19:39735134C>T	ENST00000413851.2	-	2	219	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	IFNL4_ENST00000606380.1_RNA	NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	61					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)		p.E61K(1)									AGCGACTCTTCCTAGACAGCA	0.602																																																	1	Substitution - Missense(1)	kidney(1)											24.0	31.0	29.0					19																	39735134		2200	4298	6498	SO:0001630	splice_region_variant	0			AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"""Interferons"""	18365	protein-coding gene	gene with protein product		607402	"""interleukin 28B"", ""interleukin 28B (interferon, lambda 3)"""	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.181-1G>A	19.37:g.39735134C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	ENST00000413851.2	37	CCDS12530.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827125	0.71143	.	.	ENSG00000197110	ENST00000413851	T	0.50001	0.76	3.01	3.01	0.34805	.	0.000000	0.56097	D	0.000040	T	0.68632	0.3022	M	0.86953	2.85	0.31617	N	0.650811	D	0.89917	1.0	D	0.97110	1.0	T	0.73874	-0.3845	10	0.87932	D	0	-6.2873	9.5762	0.39459	0.0:1.0:0.0:0.0	.	61	Q8IZI9	IL28B_HUMAN	K	61	ENSP00000409000:E61K	ENSP00000409000:E61K	E	-	1	0	IL28B	44426974	0.974000	0.33945	0.349000	0.25694	0.371000	0.29859	2.057000	0.41365	1.702000	0.51228	0.205000	0.17691	GAA		0.602	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1		NM_172139	Missense_Mutation
KLHL7	55975	broad.mit.edu;ucsc.edu	37	7	23207478	23207478	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr7:23207478G>A	ENST00000339077.5	+	9	1444	c.1201G>A	c.(1201-1203)Gag>Aag	p.E401K	KLHL7_ENST00000539124.1_Missense_Mutation_p.E325K|KLHL7_ENST00000542558.1_Missense_Mutation_p.E176K|KLHL7_ENST00000545443.1_Missense_Mutation_p.E379K|KLHL7_ENST00000409689.1_Missense_Mutation_p.E353K|KLHL7_ENST00000322231.7_Missense_Mutation_p.E379K	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	401					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.E401K(1)|p.E379K(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTATTTATTTGAGTGCTATGA	0.463																																																	2	Substitution - Missense(2)	kidney(2)											73.0	75.0	74.0					7																	23207478		2203	4300	6503	SO:0001583	missense	55975				CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.1201G>A	7.37:g.23207478G>A	ENSP00000343273:p.Glu401Lys	Somatic		WXS	Illumina GAIIx	Phase_I	A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	CCDS34609.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.763764|5.763764	0.96906|0.96906	.|.	.|.	ENSG00000122550|ENSG00000122550	ENST00000536369|ENST00000538858;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000542558;ENST00000409689;ENST00000545443	.|D;D;D;D;D;D	.|0.84516	.|-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	5.78|5.78	5.78|5.78	0.91487|0.91487	.|Kelch-type beta propeller (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.95198	.|0.8443	H|H	0.95402|0.95402	3.665|3.665	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;0.999	.|D;D;D	.|0.87578	.|0.995;0.998;0.91	.|D	.|0.95952	.|0.8955	.|10	.|0.87932	.|D	.|0	.|.	20.0203|20.0203	0.97492|0.97492	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|176;401;379	.|B7Z3P9;Q8IXQ5;Q8IXQ5-2	.|.;KLHL7_HUMAN;.	.|K	-1|242;379;401;325;176;353;379	.|ENSP00000322958:E379K;ENSP00000343273:E401K;ENSP00000441136:E325K;ENSP00000442367:E176K;ENSP00000386263:E353K;ENSP00000442366:E379K	.|ENSP00000322958:E379K	.|E	+|+	.|1	.|0	KLHL7|KLHL7	23174003|23174003	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	9.476000|9.476000	0.97823|0.97823	2.730000|2.730000	0.93505|0.93505	0.655000|0.655000	0.94253|0.94253	.|GAG		0.463	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3		NM_018846	
LOXHD1	125336	broad.mit.edu;ucsc.edu	37	18	44098173	44098173	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr18:44098173C>T	ENST00000398722.4	-	27	4483	c.4484G>A	c.(4483-4485)gGc>gAc	p.G1495D	LOXHD1_ENST00000398705.2_Missense_Mutation_p.G12D|LOXHD1_ENST00000398686.4_Missense_Mutation_p.G12D|LOXHD1_ENST00000300591.6_Missense_Mutation_p.G662D|LOXHD1_ENST00000582408.1_Missense_Mutation_p.G600D|LOXHD1_ENST00000441893.2_Missense_Mutation_p.G644D|LOXHD1_ENST00000579038.1_Missense_Mutation_p.G566D|LOXHD1_ENST00000441551.2_Missense_Mutation_p.G1567D|LOXHD1_ENST00000536736.1_Missense_Mutation_p.G1711D			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	1495	PLAT 11. {ECO:0000255|PROSITE- ProRule:PRU00152}.				calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)	p.G1495D(1)|p.G1711D(1)		NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						GGAGTCAGTGCCCCCGCCAAC	0.577																																																	2	Substitution - Missense(2)	kidney(2)											127.0	121.0	123.0					18																	44098173		692	1591	2283	SO:0001583	missense	125336			AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.4484G>A	18.37:g.44098173C>T	ENSP00000381707:p.Gly1495Asp	Somatic		WXS	Illumina GAIIx	Phase_I	B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Missense_Mutation	SNP	ENST00000398722.4	37		.	.	.	.	.	.	.	.	.	.	C	15.76	2.927693	0.52759	.	.	ENSG00000167210	ENST00000300591;ENST00000398722;ENST00000398705;ENST00000536736;ENST00000441893;ENST00000398686;ENST00000414184;ENST00000335730;ENST00000452425	T;T;T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	5.09	5.09	0.68999	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.059317	0.64402	D	0.000003	D	0.84188	0.5417	M	0.85710	2.77	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;1.0;0.999	D	0.87051	0.2147	10	0.87932	D	0	.	18.4953	0.90863	0.0:1.0:0.0:0.0	.	1711;644;1433;1495	F5GZB4;F8WA52;Q8IVV2-2;Q8IVV2	.;.;.;LOXH1_HUMAN	D	662;1495;12;1711;644;12;12;1433;29	ENSP00000300591:G662D;ENSP00000381707:G1495D;ENSP00000381692:G12D;ENSP00000444586:G1711D;ENSP00000409062:G644D;ENSP00000381676:G12D;ENSP00000392440:G12D;ENSP00000414278:G29D	ENSP00000300591:G662D	G	-	2	0	LOXHD1	42352171	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	7.296000	0.78790	2.377000	0.81083	0.455000	0.32223	GGC		0.577	LOXHD1-201	KNOWN	basic	protein_coding	protein_coding			NM_144612	
MICA	100507436	hgsc.bcm.edu	37	6	31380161	31380161	+	Frame_Shift_Del	DEL	G	G	-	rs41293539|rs547446871|rs138201170	byFrequency	TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr6:31380161delG	ENST00000449934.2	+	5	1006	c.952delG	c.(952-954)ggcfs	p.G318fs	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				TGTTGCTGCTGGCTGCTGCTA	0.453													?|GG|G|unsure	1026	0.204872	0.0537	0.2824	5008	,	,		19280	0.3869		0.1272	False		,,,				2504	0.2464																0													218.0	178.0	190.0					6																	31380161		692	1576	2268	SO:0001589	frameshift_variant	100507436			L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"""Immunoglobulin superfamily / C1-set domain containing"""	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.952delG	6.37:g.31380161delG	ENSP00000413079:p.Gly318fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000449934.2	37	CCDS56412.1																																																																																				0.453	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7		NM_001177519	
NIFK	84365	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	122488643	122488643	+	Silent	SNP	G	G	A			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr2:122488643G>A	ENST00000285814.4	-	4	462	c.390C>T	c.(388-390)ctC>ctT	p.L130L	AC018737.1_ENST00000419902.1_RNA	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		130					negative regulation of phosphatase activity (GO:0010923)|protein complex assembly (GO:0006461)|rRNA metabolic process (GO:0016072)|rRNA transcription (GO:0009303)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L130L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						AGTCTTTAAAGAGTTCTTTAT	0.353																																																	1	Substitution - coding silent(1)	kidney(1)											73.0	70.0	71.0					2																	122488643		2202	4299	6501	SO:0001819	synonymous_variant	84365																														ENST00000285814.4:c.390C>T	2.37:g.122488643G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K788|Q8TB66|Q96ED4	Silent	SNP	ENST00000285814.4	37	CCDS2135.1																																																																																				0.353	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254239.2			
MTUS2	23281	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	30062042	30062042	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr13:30062042A>T	ENST00000380808.2	+	4	558	c.342A>T	c.(340-342)gaA>gaT	p.E114D	MTUS2-AS1_ENST00000587588.1_RNA|MTUS2_ENST00000431530.3_Missense_Mutation_p.E1145D|MTUS2-AS1_ENST00000323380.5_RNA|MTUS2_ENST00000542829.1_Missense_Mutation_p.E24D	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1135						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.E1145D(1)|p.E114D(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCCAGGTGGAAGATCTCACCG	0.507																																																	2	Substitution - Missense(2)	kidney(2)											95.0	98.0	97.0					13																	30062042		2092	4217	6309	SO:0001583	missense	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000380808.2:c.342A>T	13.37:g.30062042A>T	ENSP00000370186:p.Glu114Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000380808.2	37	CCDS41874.1	.	.	.	.	.	.	.	.	.	.	A	4.333	0.061170	0.08339	.	.	ENSG00000132938	ENST00000431530;ENST00000380808;ENST00000542829;ENST00000417109	T;T;T	0.18960	2.68;2.18;2.91	4.72	-2.05	0.07321	.	0.105646	0.64402	D	0.000006	T	0.24928	0.0605	L	0.37630	1.12	0.42002	D	0.990896	B;D	0.76494	0.027;0.999	B;D	0.71414	0.033;0.973	T	0.07888	-1.0749	9	.	.	.	.	5.2608	0.15571	0.3382:0.3067:0.3551:0.0	.	114;1135	Q5JR59-3;Q5JR59	.;MTUS2_HUMAN	D	1145;114;24;71	ENSP00000392057:E1145D;ENSP00000370186:E114D;ENSP00000445403:E24D	.	E	+	3	2	MTUS2	28960042	0.998000	0.40836	0.851000	0.33527	0.806000	0.45545	0.422000	0.21296	-0.517000	0.06461	-0.313000	0.08912	GAA		0.507	MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044335.2		XM_166270	
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9047434	9047434	+	Silent	SNP	A	A	G			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr19:9047434A>G	ENST00000397910.4	-	5	34400	c.34197T>C	c.(34195-34197)gaT>gaC	p.D11399D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11401	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.D7032D(1)|p.D11399D(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TATCTGGTACATCAGGTGAGA	0.453																																																	2	Substitution - coding silent(2)	kidney(2)											234.0	218.0	223.0					19																	9047434		1937	4149	6086	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34197T>C	19.37:g.9047434A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690	
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9074345	9074345	+	Silent	SNP	T	T	C			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr19:9074345T>C	ENST00000397910.4	-	3	13304	c.13101A>G	c.(13099-13101)acA>acG	p.T4367T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4369	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T4367T(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCTCACATCTGTAAATGTGT	0.478																																																	2	Substitution - coding silent(2)	kidney(2)											140.0	135.0	137.0					19																	9074345		2016	4176	6192	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13101A>G	19.37:g.9074345T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690	
NAALADL1	10004	broad.mit.edu;hgsc.bcm.edu	37	11	64822097	64822097	+	Silent	SNP	C	C	A			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr11:64822097C>A	ENST00000358658.3	-	5	744	c.717G>T	c.(715-717)ctG>ctT	p.L239L	NAALADL1_ENST00000340252.4_Silent_p.L239L|NAALADL1_ENST00000356632.3_Silent_p.L239L|NAALADL1_ENST00000355369.2_Silent_p.L239L|NAALADL1_ENST00000339885.2_Silent_p.L239L|NAALADL1_ENST00000355721.3_Silent_p.L198L	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.L239L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CTGAGGGGGGCAGGTACCAGG	0.612											OREG0032001	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																																					1	Substitution - coding silent(1)	kidney(1)											58.0	58.0	58.0					11																	64822097		2201	4297	6498	SO:0001819	synonymous_variant	10004			AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.717G>T	11.37:g.64822097C>A		Somatic	1079	WXS	Illumina HiSeq	Phase_I	C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Silent	SNP	ENST00000358658.3	37	CCDS31604.1																																																																																				0.612	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1		NM_005468	
NCF1	653361	broad.mit.edu;hgsc.bcm.edu	37	7	74191683	74191683	+	Missense_Mutation	SNP	A	A	G	rs368948045		TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr7:74191683A>G	ENST00000289473.4	+	2	213	c.143A>G	c.(142-144)tAc>tGc	p.Y48C	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	48	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular defense response (GO:0006968)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|leukotriene metabolic process (GO:0006691)|negative regulation of smooth muscle contraction (GO:0045986)|neutrophil mediated killing of fungus (GO:0070947)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|protein targeting to membrane (GO:0006612)|respiratory burst (GO:0045730)|respiratory burst involved in defense response (GO:0002679)|response to yeast (GO:0001878)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagolysosome (GO:0032010)|rough endoplasmic reticulum (GO:0005791)	electron carrier activity (GO:0009055)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.Y48C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10					Dextromethorphan(DB00514)	ACCGAGATCTACGAGTTCCAT	0.602																																																	1	Substitution - Missense(1)	kidney(1)											29.0	29.0	29.0					7																	74191683		2203	4295	6498	SO:0001583	missense	653361			M25665	CCDS34657.1	7q11.23	2014-09-17	2008-07-31		ENSG00000158517	ENSG00000158517			7660	protein-coding gene	gene with protein product	"""NADPH oxidase organizer 2"", ""chronic granulomatous disease, autosomal 1"""	608512	"""neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1)"""				Standard	NM_000265		Approved	p47phox, NOXO2, NCF1A, SH3PXD1A	uc022aft.1	P14598	OTTHUMG00000149965	ENST00000289473.4:c.143A>G	7.37:g.74191683A>G	ENSP00000289473:p.Tyr48Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Missense_Mutation	SNP	ENST00000289473.4	37	CCDS34657.1	.	.	.	.	.	.	.	.	.	.	a	14.22	2.469501	0.43839	.	.	ENSG00000158517	ENST00000289473;ENST00000433458;ENST00000442021	T;T;T	0.70399	1.01;1.01;-0.48	4.57	4.57	0.56435	Phox homologous domain (5);	0.129990	0.53938	D	0.000050	D	0.85575	0.5728	M	0.88031	2.925	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.88214	0.2892	10	0.66056	D	0.02	-30.6791	13.4416	0.61117	1.0:0.0:0.0:0.0	.	48;48;48	B4E3W8;P14598-2;P14598	.;.;NCF1_HUMAN	C	48;48;24	ENSP00000289473:Y48C;ENSP00000392870:Y48C;ENSP00000401935:Y24C	ENSP00000289473:Y48C	Y	+	2	0	NCF1	73829619	1.000000	0.71417	1.000000	0.80357	0.275000	0.26752	8.326000	0.90010	1.854000	0.53819	0.358000	0.22013	TAC		0.602	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314560.1		NM_000265	
OR2AG1	144125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6806389	6806389	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr11:6806389A>G	ENST00000307401.4	+	1	142	c.121A>G	c.(121-123)Agc>Ggc	p.S41G		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S41G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGCCCTGATCAGCAATGGCCT	0.527																																																	1	Substitution - Missense(1)	kidney(1)											181.0	173.0	176.0					11																	6806389		2201	4296	6497	SO:0001583	missense	144125			AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"""GPCR / Class A : Olfactory receptors"""	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.121A>G	11.37:g.6806389A>G	ENSP00000307447:p.Ser41Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B9EKV7|Q6IFG7|Q96R26	Missense_Mutation	SNP	ENST00000307401.4	37	CCDS31414.1	.	.	.	.	.	.	.	.	.	.	a	0.003	-2.394048	0.00200	.	.	ENSG00000170803	ENST00000307401	T	0.21932	1.98	4.03	2.9	0.33743	GPCR, rhodopsin-like superfamily (1);	0.333064	0.25984	N	0.027047	T	0.03477	0.0100	N	0.00201	-1.865	0.23602	N	0.99732	B	0.24675	0.109	B	0.21151	0.033	T	0.42241	-0.9463	10	0.02654	T	1	.	7.8941	0.29695	0.8987:0.0:0.1013:0.0	.	41	Q9H205	O2AG1_HUMAN	G	41	ENSP00000307447:S41G	ENSP00000307447:S41G	S	+	1	0	OR2AG1	6762965	0.674000	0.27549	0.756000	0.31282	0.019000	0.09904	2.130000	0.42064	0.724000	0.32296	-0.332000	0.08345	AGC		0.527	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385980.1		NM_001004489	
OR1S1	219959	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	57982325	57982325	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr11:57982325C>A	ENST00000309433.6	+	1	109	c.109C>A	c.(109-111)Caa>Aaa	p.Q37K		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q37K(1)		breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				GGATGAGCATCAAAACCTCCT	0.433																																																	1	Substitution - Missense(1)	kidney(1)											279.0	253.0	262.0					11																	57982325		2201	4296	6497	SO:0001583	missense	219959			BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.109C>A	11.37:g.57982325C>A	ENSP00000311688:p.Gln37Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IFG3	Missense_Mutation	SNP	ENST00000309433.6	37	CCDS31546.1	.	.	.	.	.	.	.	.	.	.	C	9.480	1.098029	0.20552	.	.	ENSG00000172774	ENST00000309433	T	0.00591	6.35	3.45	2.46	0.29980	.	0.000000	0.46442	D	0.000295	T	0.00998	0.0033	L	0.55213	1.73	0.09310	N	1	D	0.54207	0.965	P	0.47744	0.556	T	0.52510	-0.8566	10	0.62326	D	0.03	.	11.7391	0.51781	0.0:0.8212:0.1787:0.0	.	37	Q8NH92	OR1S1_HUMAN	K	37	ENSP00000311688:Q37K	ENSP00000311688:Q37K	Q	+	1	0	OR1S1	57738901	0.000000	0.05858	0.010000	0.14722	0.077000	0.17291	0.229000	0.17833	1.770000	0.52166	0.479000	0.44913	CAA		0.433	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1		NM_001004458	
OR10G7	390265	broad.mit.edu;hgsc.bcm.edu	37	11	123909632	123909632	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr11:123909632A>T	ENST00000330487.5	-	1	85	c.77T>A	c.(76-78)tTt>tAt	p.F26Y		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F26Y(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GAAGATTCCAAAGAGGGGGGC	0.572																																																	1	Substitution - Missense(1)	kidney(1)											91.0	88.0	89.0					11																	123909632		2200	4299	6499	SO:0001583	missense	390265			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.77T>A	11.37:g.123909632A>T	ENSP00000329689:p.Phe26Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	CCDS31705.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.402493	0.62288	.	.	ENSG00000182634	ENST00000330487	T	0.04360	3.64	3.38	3.38	0.38709	.	0.427811	0.19916	N	0.103191	T	0.15089	0.0364	M	0.89214	3.015	0.30397	N	0.780373	P	0.40431	0.717	P	0.46850	0.529	T	0.02411	-1.1163	10	0.87932	D	0	.	10.492	0.44756	1.0:0.0:0.0:0.0	.	26	Q8NGN6	O10G7_HUMAN	Y	26	ENSP00000329689:F26Y	ENSP00000329689:F26Y	F	-	2	0	OR10G7	123414842	0.998000	0.40836	0.146000	0.22360	0.048000	0.14542	3.992000	0.56980	1.538000	0.49270	0.455000	0.32223	TTT		0.572	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1		NM_001004463	
OR2T4	127074	broad.mit.edu;hgsc.bcm.edu	37	1	248525734	248525734	+	Silent	SNP	T	T	C	rs138844789		TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr1:248525734T>C	ENST00000366475.1	+	1	852	c.852T>C	c.(850-852)taT>taC	p.Y284Y		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y284Y(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCTCTTCTATGGGGCTGCCA	0.547																																																	1	Substitution - coding silent(1)	kidney(1)						T		1,4405	2.1+/-5.4	0,1,2202	159.0	153.0	155.0		852	0.6	1.0	1	dbSNP_134	155	0,8600		0,0,4300	no	coding-synonymous	OR2T4	NM_001004696.1		0,1,6502	CC,CT,TT		0.0,0.0227,0.0077		284/349	248525734	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	127074			BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.852T>C	1.37:g.248525734T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q6IEZ8	Silent	SNP	ENST00000366475.1	37	CCDS31113.1																																																																																				0.547	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2		NM_001004696	
OR4A5	81318	broad.mit.edu;hgsc.bcm.edu	37	11	51412339	51412339	+	Silent	SNP	A	A	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr11:51412339A>T	ENST00000319760.6	-	1	109	c.57T>A	c.(55-57)ccT>ccA	p.P19P		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P19P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TTTGCACACCAGGATCCTGAG	0.423																																																	1	Substitution - coding silent(1)	kidney(1)											39.0	37.0	38.0					11																	51412339		2200	4296	6496	SO:0001819	synonymous_variant	81318			AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.57T>A	11.37:g.51412339A>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6IF84	Silent	SNP	ENST00000319760.6	37	CCDS31497.1																																																																																				0.423	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1		NM_001005272	
PCDHA10	56139	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140236094	140236094	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr5:140236094A>G	ENST00000307360.5	+	1	461	c.461A>G	c.(460-462)gAa>gGa	p.E154G	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.E154G|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	154	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E154G(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCCACTAGAAGGCGCATCT	0.413																																																	2	Substitution - Missense(2)	kidney(2)											121.0	128.0	126.0					5																	140236094		2198	4271	6469	SO:0001583	missense	56139			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.461A>G	5.37:g.140236094A>G	ENSP00000304234:p.Glu154Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.815541	0.50527	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.20069	2.1;2.1	4.24	4.24	0.50183	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.49575	0.1565	M	0.85462	2.755	0.24537	N	0.994083	P;B;D	0.71674	0.902;0.307;0.998	P;B;D	0.71656	0.8;0.072;0.974	T	0.42716	-0.9435	9	0.52906	T	0.07	.	13.7988	0.63188	1.0:0.0:0.0:0.0	.	154;154;154	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	G	154	ENSP00000421030:E154G;ENSP00000304234:E154G	ENSP00000304234:E154G	E	+	2	0	PCDHA10	140216278	0.020000	0.18652	1.000000	0.80357	0.991000	0.79684	0.712000	0.25779	1.905000	0.55150	0.459000	0.35465	GAA		0.413	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2		NM_018901	
PCDHGB7	56099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140798186	140798186	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr5:140798186G>C	ENST00000398594.2	+	1	760	c.760G>C	c.(760-762)Gac>Cac	p.D254H	PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	254	Cadherin 3. {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)	p.D254H(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTCGGGAAGACGTGCCTCC	0.537																																																	1	Substitution - Missense(1)	kidney(1)											75.0	77.0	76.0					5																	140798186		2047	4194	6241	SO:0001583	missense	56099			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.760G>C	5.37:g.140798186G>C	ENSP00000381594:p.Asp254His	Somatic		WXS	Illumina HiSeq	Phase_I	Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	18.41	3.618694	0.66787	.	.	ENSG00000254122	ENST00000398594	T	0.53423	0.62	5.7	4.72	0.59763	Cadherin (4);Cadherin-like (1);	0.457733	0.15392	U	0.264769	T	0.55194	0.1905	M	0.63428	1.95	0.27567	N	0.950018	P;P	0.52463	0.953;0.831	P;P	0.57425	0.82;0.642	T	0.56402	-0.7985	10	0.87932	D	0	.	3.9835	0.09504	0.3216:0.0:0.6784:0.0	.	254;254	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	H	254	ENSP00000381594:D254H	ENSP00000381594:D254H	D	+	1	0	PCDHGB7	140778370	0.443000	0.25641	0.810000	0.32431	0.924000	0.55760	1.052000	0.30429	2.711000	0.92665	0.561000	0.74099	GAC		0.537	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1		NM_018927	
PDE8A	5151	broad.mit.edu;hgsc.bcm.edu	37	15	85659326	85659326	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr15:85659326A>T	ENST00000310298.4	+	17	1763	c.1511A>T	c.(1510-1512)gAa>gTa	p.E504V	PDE8A_ENST00000557957.1_Missense_Mutation_p.E432V|PDE8A_ENST00000394553.1_Missense_Mutation_p.E504V|PDE8A_ENST00000339708.5_Missense_Mutation_p.E458V			O60658	PDE8A_HUMAN	phosphodiesterase 8A	504					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.E504V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	GATATTTTTGAACTGGAGGCT	0.502																																																	1	Substitution - Missense(1)	kidney(1)											79.0	75.0	77.0					15																	85659326		2203	4299	6502	SO:0001583	missense	5151			AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.1511A>T	15.37:g.85659326A>T	ENSP00000311453:p.Glu504Val	Somatic		WXS	Illumina HiSeq	Phase_I	B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	A	16.98	3.272143	0.59649	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.79033	-1.23;-1.23;-1.23	4.93	4.93	0.64822	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.348813	0.33309	N	0.005058	T	0.81931	0.4927	M	0.75264	2.295	0.53688	D	0.99997	P;P	0.35481	0.504;0.455	P;B	0.45232	0.474;0.24	D	0.83914	0.0297	10	0.72032	D	0.01	.	12.5881	0.56428	1.0:0.0:0.0:0.0	.	458;504	O60658-2;O60658	.;PDE8A_HUMAN	V	504;504;458	ENSP00000311453:E504V;ENSP00000378056:E504V;ENSP00000340679:E458V	ENSP00000311453:E504V	E	+	2	0	PDE8A	83460330	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.982000	0.56909	2.052000	0.61016	0.523000	0.50628	GAA		0.502	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1		NM_002605	
PLEC	5339	broad.mit.edu;hgsc.bcm.edu	37	8	144992443	144992443	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr8:144992443G>T	ENST00000322810.4	-	32	12126	c.11957C>A	c.(11956-11958)cCg>cAg	p.P3986Q	PLEC_ENST00000354958.2_Missense_Mutation_p.P3827Q|PLEC_ENST00000527096.1_Missense_Mutation_p.P3872Q|PLEC_ENST00000357649.2_Missense_Mutation_p.P3853Q|PLEC_ENST00000356346.3_Missense_Mutation_p.P3835Q|PLEC_ENST00000436759.2_Missense_Mutation_p.P3876Q|PLEC_ENST00000354589.3_Missense_Mutation_p.P3849Q|PLEC_ENST00000345136.3_Missense_Mutation_p.P3849Q|PLEC_ENST00000398774.2_Missense_Mutation_p.P3817Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3986	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.P3986Q(1)|p.P3876Q(1)|p.P3849Q(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTCGGTGGACGGGTCCACGTA	0.672																																																	3	Substitution - Missense(3)	kidney(3)											18.0	24.0	22.0					8																	144992443		2024	4164	6188	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11957C>A	8.37:g.144992443G>T	ENSP00000323856:p.Pro3986Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983717	0.35036	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14	3.67	3.67	0.42095	.	0.000000	0.64402	U	0.000012	D	0.93048	0.7787	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999	D	0.94123	0.7381	10	0.87932	D	0	.	14.6511	0.68797	0.0:0.0:1.0:0.0	.	3876;3835;3827;3986;3817;3849;3853;3849	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	3849;3853;3849;3817;3986;3827;3835;3876;3872	ENSP00000344848:P3849Q;ENSP00000350277:P3853Q;ENSP00000346602:P3849Q;ENSP00000381756:P3817Q;ENSP00000323856:P3986Q;ENSP00000347044:P3827Q;ENSP00000348702:P3835Q;ENSP00000388180:P3876Q;ENSP00000434583:P3872Q	ENSP00000323856:P3986Q	P	-	2	0	PLEC	145064431	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.679000	0.84048	2.050000	0.60909	0.448000	0.29417	CCG		0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1		NM_000445	
RAB6B	51560	broad.mit.edu;ucsc.edu	37	3	133558406	133558406	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr3:133558406C>G	ENST00000285208.4	-	5	694	c.345G>C	c.(343-345)agG>agC	p.R115S	RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000486858.1_Missense_Mutation_p.R102S|RAB6B_ENST00000543906.1_Missense_Mutation_p.R115S	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	115					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.R115S(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						CATCACTGCCCCTCTCTGTCC	0.557																																																	1	Substitution - Missense(1)	kidney(1)											251.0	194.0	214.0					3																	133558406		2203	4300	6503	SO:0001583	missense	51560			AF166492	CCDS3082.1	3q22.1	2008-05-15			ENSG00000154917	ENSG00000154917		"""RAB, member RAS oncogene"""	14902	protein-coding gene	gene with protein product		615852					Standard	NM_016577		Approved		uc003epy.3	Q9NRW1	OTTHUMG00000159749	ENST00000285208.4:c.345G>C	3.37:g.133558406C>G	ENSP00000285208:p.Arg115Ser	Somatic		WXS	Illumina GAIIx	Phase_I	B2R5Z9|B7Z337|D3DND3|Q92929	Missense_Mutation	SNP	ENST00000285208.4	37	CCDS3082.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833161	0.71258	.	.	ENSG00000154917	ENST00000285208;ENST00000543906;ENST00000486858;ENST00000477759;ENST00000460865	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	4.87	2.65	0.31530	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.61813	0.2377	N	0.03071	-0.42	0.80722	D	1	D;D	0.58268	0.982;0.967	P;D	0.63597	0.87;0.916	T	0.64145	-0.6476	10	0.56958	D	0.05	-14.5941	4.6594	0.12634	0.0:0.5661:0.0:0.4339	.	102;115	B7Z337;Q9NRW1	.;RAB6B_HUMAN	S	115;115;102;82;61	ENSP00000285208:R115S;ENSP00000437797:R115S;ENSP00000419381:R102S;ENSP00000419941:R82S;ENSP00000419526:R61S	ENSP00000285208:R115S	R	-	3	2	RAB6B	135041096	0.985000	0.35326	0.998000	0.56505	0.980000	0.70556	0.125000	0.15749	1.180000	0.42898	-0.140000	0.14226	AGG		0.557	RAB6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357152.1			
RB1	5925	broad.mit.edu;hgsc.bcm.edu	37	13	49030485	49030485	+	Splice_Site	SNP	G	G	A	rs483352690		TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr13:49030485G>A	ENST00000267163.4	+	19	2098	c.1960G>A	c.(1960-1962)Gtg>Atg	p.V654M		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	654	Domain B.|Pocket; binds T and E1A.		V -> E (in RB). {ECO:0000269|PubMed:7795591}.		androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)|p.V654M(3)|p.V654fs*4(1)|p.V654L(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTATAAAAAAGGTTAGTAGAT	0.403		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	30	Whole gene deletion(15)|Unknown(10)|Substitution - Missense(4)|Deletion - Frameshift(1)	bone(10)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)|lung(1)|skin(1)|liver(1)	GRCh37	CM034902|CS050405|CS081965|CS083261	RB1	M|S							53.0	51.0	51.0					13																	49030485		2203	4300	6503	SO:0001630	splice_region_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1960+1G>A	13.37:g.49030485G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346955	0.82022	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.93763	-3.28	5.97	5.97	0.96955	Retinoblastoma-associated protein, B-box (1);Cyclin-like (2);	0.216802	0.41097	D	0.000945	D	0.96476	0.8850	M	0.67700	2.07	0.54753	D	0.999985	D	0.89917	1.0	D	0.79784	0.993	D	0.96197	0.9142	10	0.72032	D	0.01	.	20.4214	0.99039	0.0:0.0:1.0:0.0	.	654	P06400	RB_HUMAN	M	633;654	ENSP00000267163:V654M	ENSP00000267163:V654M	V	+	1	0	RB1	47928486	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.809000	0.69172	2.820000	0.97059	0.655000	0.94253	GTG		0.403	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			Missense_Mutation
RPGRIP1	57096	broad.mit.edu;ucsc.edu	37	14	21793025	21793025	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr14:21793025G>T	ENST00000400017.2	+	14	2011	c.2011G>T	c.(2011-2013)Ggg>Tgg	p.G671W	RPGRIP1_ENST00000307974.4_Intron|RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.G633W|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.G671W	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	671					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)		p.G287W(1)|p.G671W(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		ATTATCTGTGGGGCCACAGCC	0.507																																																	2	Substitution - Missense(2)	kidney(2)											157.0	149.0	152.0					14																	21793025		1942	4140	6082	SO:0001583	missense	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.2011G>T	14.37:g.21793025G>T	ENSP00000382895:p.Gly671Trp	Somatic		WXS	Illumina GAIIx	Phase_I	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120922	0.77436	.	.	ENSG00000092200	ENST00000557771;ENST00000400017;ENST00000206660;ENST00000555587;ENST00000554303	D;D;D;D;D	0.95554	-3.74;-3.74;-3.74;-3.74;-3.74	5.53	5.53	0.82687	.	0.107198	0.64402	D	0.000006	D	0.97573	0.9205	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.995;0.997;0.998;1.0	D	0.97864	1.0282	10	0.87932	D	0	-23.9603	18.396	0.90499	0.0:0.0:1.0:0.0	.	54;146;287;671	Q96KN7-2;G3V3I7;Q96KN7-5;Q96KN7	.;.;.;RPGR1_HUMAN	W	633;671;671;146;133	ENSP00000451219:G633W;ENSP00000382895:G671W;ENSP00000206660:G671W;ENSP00000451262:G146W;ENSP00000450426:G133W	ENSP00000206660:G671W	G	+	1	0	RPGRIP1	20862865	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.545000	0.90657	2.882000	0.98803	0.655000	0.94253	GGG		0.507	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1		NM_020366	
SERPINA3	12	broad.mit.edu;hgsc.bcm.edu	37	14	95080851	95080851	+	Missense_Mutation	SNP	C	C	A	rs144060757	byFrequency	TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr14:95080851C>A	ENST00000467132.1	+	2	1221	c.73C>A	c.(73-75)Cct>Act	p.P25T	RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393080.4_Missense_Mutation_p.P25T|SERPINA3_ENST00000393078.3_Missense_Mutation_p.P25T			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	25					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.P25T(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CCTCTGCCACCCTAACAGCCC	0.562																																																	1	Substitution - Missense(1)	kidney(1)											94.0	93.0	93.0					14																	95080851		2203	4300	6503	SO:0001583	missense	12			K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.73C>A	14.37:g.95080851C>A	ENSP00000450540:p.Pro25Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515044	0.44763	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132;ENST00000380354	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	4.51	1.52	0.23074	Serpin domain (1);	1.169340	0.06367	N	0.712906	D	0.85080	0.5615	N	0.19112	0.55	0.33817	D	0.628575	P;D	0.54601	0.857;0.967	P;P	0.56163	0.558;0.793	T	0.78478	-0.2188	10	0.87932	D	0	.	6.7281	0.23369	0.0:0.674:0.0:0.326	.	25;50	P01011;G3V5I3	AACT_HUMAN;.	T	50;25;25;25;25;25	ENSP00000452367:P50T;ENSP00000376793:P25T;ENSP00000376795:P25T;ENSP00000450540:P25T	ENSP00000369712:P25T	P	+	1	0	SERPINA3	94150604	0.000000	0.05858	0.193000	0.23327	0.058000	0.15608	0.338000	0.19858	0.183000	0.20059	0.561000	0.74099	CCT		0.562	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3		NM_001085	
SERPINB13	5275	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	61255920	61255920	+	Missense_Mutation	SNP	G	G	A	rs139825462		TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr18:61255920G>A	ENST00000344731.5	+	2	121	c.19G>A	c.(19-21)Gtc>Atc	p.V7I	SERPINB13_ENST00000269489.5_Missense_Mutation_p.V7I	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	7					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V7I(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						ACTTGGCGCCGTCAGCACTCG	0.418																																																	3	Substitution - Missense(3)	prostate(2)|kidney(1)						G	ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	94.0	90.0	91.0		19	2.1	0.0	18	dbSNP_134	91	0,8600		0,0,4300	no	missense	SERPINB13	NM_012397.3	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	7/392	61255920	3,13003	2203	4300	6503	SO:0001583	missense	5275			AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"""Serine (or cysteine) peptidase inhibitors"""	8944	protein-coding gene	gene with protein product		604445	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"""	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.19G>A	18.37:g.61255920G>A	ENSP00000341584:p.Val7Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	37	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380737	0.24944	6.81E-4	0.0	ENSG00000197641	ENST00000431153;ENST00000269489;ENST00000539341;ENST00000344731	T;T;D	0.82081	-0.79;2.82;-1.57	4.89	2.12	0.27331	Serpin domain (1);	0.365172	0.23587	N	0.046598	T	0.69178	0.3082	N	0.20881	0.62	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.003	T	0.59547	-0.7434	10	0.59425	D	0.04	.	6.7555	0.23512	0.0764:0.1282:0.6636:0.1318	.	7;7	B7ZKV6;Q9UIV8	.;SPB13_HUMAN	I	37;7;7;7	ENSP00000388300:V37I;ENSP00000269489:V7I;ENSP00000341584:V7I	ENSP00000269489:V7I	V	+	1	0	SERPINB13	59406900	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	0.742000	0.26216	0.261000	0.21753	-1.149000	0.01842	GTC		0.418	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1		NM_012397	
SLC12A9	56996	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	100463346	100463346	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr7:100463346A>C	ENST00000354161.3	+	14	1989	c.1864A>C	c.(1864-1866)Atg>Ctg	p.M622L	TRIP6_ENST00000200457.4_5'Flank	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	622					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)	p.M622V(1)|p.M622L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCAGGTGGCATGAAGCCCAA	0.592																																																	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											87.0	79.0	82.0					7																	100463346		2203	4300	6503	SO:0001583	missense	56996			AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1864A>C	7.37:g.100463346A>C	ENSP00000275730:p.Met622Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	A	33	5.235179	0.95207	.	.	ENSG00000146828	ENST00000354161;ENST00000539308	D	0.90732	-2.72	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.87398	0.6167	L	0.41027	1.25	0.80722	D	1	B	0.27853	0.191	B	0.32090	0.14	D	0.85721	0.1325	10	0.54805	T	0.06	.	13.4475	0.61148	1.0:0.0:0.0:0.0	.	622	Q9BXP2	S12A9_HUMAN	L	622;248	ENSP00000275730:M622L	ENSP00000275730:M622L	M	+	1	0	SLC12A9	100301282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.257000	0.95545	2.072000	0.62099	0.454000	0.30748	ATG		0.592	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1		NM_020246	
SMARCAL1	50485	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	217285020	217285020	+	Splice_Site	SNP	A	A	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr2:217285020A>T	ENST00000357276.4	+	5	1192		c.e5-1		SMARCAL1_ENST00000358207.5_Splice_Site	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1						cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)	p.?(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CTTCTTTGGCAGTGAAAGCAG	0.557									Schimke Immuno-Osseous Dysplasia																																								1	Unknown(1)	kidney(1)	GRCh37	CS020335	SMARCAL1	S							38.0	35.0	36.0					2																	217285020		2203	4300	6503	SO:0001630	splice_region_variant	50485	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.863-1A>T	2.37:g.217285020A>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Splice_Site	SNP	ENST00000357276.4	37	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.178414	0.57692	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000427645;ENST00000392128;ENST00000412913	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8473	0.57837	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMARCAL1	216993265	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	5.749000	0.68704	1.915000	0.55452	0.459000	0.35465	.		0.557	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			Intron
SPEM1	374768	broad.mit.edu;ucsc.edu	37	17	7324820	7324820	+	Missense_Mutation	SNP	C	C	T	rs527349281		TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr17:7324820C>T	ENST00000323675.3	+	3	851	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	276					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.R276W(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				GGAACTGACCCGGGAGGTGGA	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		16623	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	kidney(1)											26.0	30.0	28.0					17																	7324820		1944	4121	6065	SO:0001583	missense	374768			AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"""chromosome 17 open reading frame 83"""	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.826C>T	17.37:g.7324820C>T	ENSP00000315554:p.Arg276Trp	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000323675.3	37	CCDS42254.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853335	0.51270	.	.	ENSG00000181323	ENST00000323675	.	.	.	4.79	2.64	0.31445	.	0.569544	0.14649	N	0.306722	T	0.48259	0.1490	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.70487	0.969	T	0.24512	-1.0158	9	0.72032	D	0.01	-10.9027	9.5343	0.39213	0.4062:0.5938:0.0:0.0	.	276	Q8N4L4	SPEM1_HUMAN	W	276	.	ENSP00000315554:R276W	R	+	1	2	SPEM1	7265544	0.005000	0.15991	0.913000	0.36048	0.284000	0.27059	-0.002000	0.12924	1.345000	0.45676	0.655000	0.94253	CGG		0.622	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440932.1		NM_199339	
SRBD1	55133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	45620107	45620107	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr2:45620107G>T	ENST00000263736.4	-	20	2737	c.2675C>A	c.(2674-2676)cCt>cAt	p.P892H	SRBD1_ENST00000490133.1_5'UTR|SRBD1_ENST00000535761.1_Missense_Mutation_p.P411H	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	892					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)	p.P892H(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AAAGCTTTCAGGCTGGCTGAG	0.398																																																	1	Substitution - Missense(1)	kidney(1)											336.0	273.0	294.0					2																	45620107		2203	4300	6503	SO:0001583	missense	55133			AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.2675C>A	2.37:g.45620107G>T	ENSP00000263736:p.Pro892His	Somatic		WXS	Illumina HiSeq	Phase_I	Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640801	0.87859	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.41758	1.33;0.99	5.55	5.55	0.83447	Tex RuvX-like domain (1);	0.000000	0.85682	D	0.000000	T	0.73040	0.3536	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78221	-0.2288	10	0.87932	D	0	.	19.8575	0.96767	0.0:0.0:1.0:0.0	.	892	Q8N5C6	SRBD1_HUMAN	H	892;411	ENSP00000263736:P892H;ENSP00000441272:P411H	ENSP00000263736:P892H	P	-	2	0	SRBD1	45473611	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.306000	0.89962	2.767000	0.95098	0.563000	0.77884	CCT		0.398	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3		NM_018079	
STAR	6770	broad.mit.edu;hgsc.bcm.edu	37	8	38001871	38001871	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr8:38001871G>T	ENST00000276449.4	-	7	1224	c.778C>A	c.(778-780)Ctg>Atg	p.L260M		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	260	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)	p.L260M(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GTCTGGGACAGGACCTGGTTG	0.582																																																	1	Substitution - Missense(1)	kidney(1)											60.0	52.0	54.0					8																	38001871		2203	4300	6503	SO:0001583	missense	6770			BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"""StAR-related lipid transfer (START) domain containing"""	11359	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 1"""	600617	"""steroidogenic acute regulator"""			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.778C>A	8.37:g.38001871G>T	ENSP00000276449:p.Leu260Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q16396	Missense_Mutation	SNP	ENST00000276449.4	37	CCDS6102.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.98|16.98	3.271949|3.271949	0.59649|0.59649	.|.	.|.	ENSG00000147465|ENSG00000147465	ENST00000276449;ENST00000522753|ENST00000522050	T|.	0.80123|.	-1.34|.	5.7|5.7	0.994|0.994	0.19832|0.19832	Lipid-binding START (3);START-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70587|0.70587	0.3241|0.3241	M|M	0.85197|0.85197	2.74|2.74	0.58432|0.58432	D|D	0.999997|0.999997	B;B|.	0.31274|.	0.175;0.317|.	P;P|.	0.51945|.	0.47;0.685|.	T|T	0.66995|0.66995	-0.5782|-0.5782	10|5	0.52906|.	T|.	0.07|.	-8.8918|-8.8918	5.8487|5.8487	0.18681|0.18681	0.2795:0.0:0.5895:0.1309|0.2795:0.0:0.5895:0.1309	.|.	222;260|.	E7ETA9;P49675|.	.;STAR_HUMAN|.	M|H	260;222|207	ENSP00000276449:L260M|.	ENSP00000276449:L260M|.	L|P	-|-	1|2	2|0	STAR|STAR	38121028|38121028	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.989000|0.989000	0.77384|0.77384	2.383000|2.383000	0.44354|0.44354	0.146000|0.146000	0.19002|0.19002	0.655000|0.655000	0.94253|0.94253	CTG|CCT		0.582	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2		NM_000349	
SYNE1	23345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	152809562	152809562	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr6:152809562A>G	ENST00000367255.5	-	12	1617	c.1016T>C	c.(1015-1017)aTg>aCg	p.M339T	SYNE1_ENST00000341594.5_Missense_Mutation_p.M339T|SYNE1_ENST00000367248.3_Missense_Mutation_p.M329T|SYNE1_ENST00000367253.4_Missense_Mutation_p.M339T|SYNE1_ENST00000448038.1_Missense_Mutation_p.M346T|SYNE1_ENST00000466159.2_Missense_Mutation_p.M339T|SYNE1_ENST00000413186.2_Missense_Mutation_p.M339T|SYNE1_ENST00000265368.4_Missense_Mutation_p.M339T|SYNE1_ENST00000423061.1_Missense_Mutation_p.M346T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	339					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.M339T(2)|p.M346T(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGATTCCACCATCTGTGCTCT	0.294										HNSCC(10;0.0054)																																							3	Substitution - Missense(3)	kidney(3)											128.0	128.0	128.0					6																	152809562		2202	4293	6495	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.1016T>C	6.37:g.152809562A>G	ENSP00000356224:p.Met339Thr	Somatic		WXS	Illumina HiSeq	Phase_I	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	8.575	0.880963	0.17467	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	T;T;T;T;T;D;D;D;D;D	0.90900	0.73;0.73;0.64;0.73;0.83;-2.11;-2.26;-2.24;-2.54;-2.75	5.42	5.42	0.78866	.	0.421386	0.23856	N	0.043899	T	0.80717	0.4676	L	0.41236	1.265	0.80722	D	1	B;B;B;B;B	0.32010	0.116;0.239;0.141;0.239;0.351	B;B;B;B;B	0.29862	0.024;0.05;0.076;0.05;0.108	T	0.80146	-0.1504	10	0.30078	T	0.28	.	15.4603	0.75349	1.0:0.0:0.0:0.0	.	322;339;339;339;346	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	T	339;346;339;346;339;339;329;339;339;322	ENSP00000356224:M339T;ENSP00000396024:M346T;ENSP00000265368:M339T;ENSP00000390975:M346T;ENSP00000341887:M339T;ENSP00000356222:M339T;ENSP00000356217:M329T;ENSP00000414510:M339T;ENSP00000446021:M339T;ENSP00000441264:M322T	ENSP00000265368:M339T	M	-	2	0	SYNE1	152851255	0.999000	0.42202	1.000000	0.80357	0.896000	0.52359	5.053000	0.64269	2.057000	0.61298	0.533000	0.62120	ATG		0.294	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961	
TBC1D2	55357	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	100963824	100963824	+	Silent	SNP	C	C	T	rs145936813	byFrequency	TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr9:100963824C>T	ENST00000375064.1	-	11	2432	c.2394G>A	c.(2392-2394)gcG>gcA	p.A798A	TBC1D2_ENST00000375063.1_Silent_p.A338A|TBC1D2_ENST00000375066.5_Silent_p.A798A|TBC1D2_ENST00000342112.5_Silent_p.A580A	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	798	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)	p.A798A(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		TGAGACTGTCCGCAAAGACCA	0.617																																																	1	Substitution - coding silent(1)	kidney(1)						C		2,4404	4.2+/-10.8	0,2,2201	143.0	104.0	117.0		2394	-7.7	0.9	9	dbSNP_134	117	16,8584	11.9+/-42.8	0,16,4284	no	coding-synonymous	TBC1D2	NM_018421.3		0,18,6485	TT,TC,CC		0.186,0.0454,0.1384		798/918	100963824	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	55357			AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.2394G>A	9.37:g.100963824C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Silent	SNP	ENST00000375064.1	37																																																																																					0.617	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1		NM_018421	
TEKT5	146279	broad.mit.edu;ucsc.edu	37	16	10788637	10788637	+	Missense_Mutation	SNP	T	T	C	rs145065368		TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr16:10788637T>C	ENST00000283025.2	-	1	165	c.94A>G	c.(94-96)Atc>Gtc	p.I32V	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	32						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.I32V(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CATTCCTGGATCACTGGCGCC	0.557																																																	1	Substitution - Missense(1)	kidney(1)						T	VAL/ILE	0,4394		0,0,2197	73.0	67.0	69.0		94	-1.6	0.0	16	dbSNP_134	69	1,8599		0,1,4299	no	missense	TEKT5	NM_144674.1	29	0,1,6496	CC,CT,TT		0.0116,0.0,0.0077	benign	32/486	10788637	1,12993	2197	4300	6497	SO:0001583	missense	146279				CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.94A>G	16.37:g.10788637T>C	ENSP00000283025:p.Ile32Val	Somatic		WXS	Illumina GAIIx	Phase_I	A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	.	0.131	-1.113992	0.01799	0.0	1.16E-4	ENSG00000153060	ENST00000283025	T	0.02787	4.16	4.91	-1.56	0.08532	.	1.062040	0.07342	N	0.880868	T	0.01320	0.0043	N	0.02802	-0.49	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47959	-0.9076	10	0.06757	T	0.87	-2.5581	9.6442	0.39857	0.0:0.4575:0.0:0.5425	.	32	Q96M29	TEKT5_HUMAN	V	32	ENSP00000283025:I32V	ENSP00000283025:I32V	I	-	1	0	TEKT5	10696138	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.202000	0.03023	-0.652000	0.05408	-0.408000	0.06270	ATC		0.557	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1		NM_144674	
TIMM17B	10245	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	48751506	48751506	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chrX:48751506T>C	ENST00000376582.3	-	5	341	c.193A>G	c.(193-195)Agc>Ggc	p.S65G	TIMM17B_ENST00000396779.3_Missense_Mutation_p.S115G|TIMM17B_ENST00000472645.1_5'UTR|TIMM17B_ENST00000465150.2_Missense_Mutation_p.S115G|TIMM17B_ENST00000495490.2_Missense_Mutation_p.S85G	NM_005834.3	NP_005825.1	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17 homolog B (yeast)	65					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane presequence translocase complex (GO:0005744)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)	p.S65G(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						ACTGCGAAGCTACCTGTAGTG	0.552																																																	1	Substitution - Missense(1)	kidney(1)											48.0	43.0	45.0					X																	48751506		2203	4299	6502	SO:0001583	missense	10245			AF034790	CCDS14308.1, CCDS55411.1	Xp11.23	2008-02-05			ENSG00000126768	ENSG00000126768			17310	protein-coding gene	gene with protein product		300249				10339406	Standard	NM_001167947		Approved	DXS9822, JM3	uc004dla.2	O60830	OTTHUMG00000034498	ENST00000376582.3:c.193A>G	X.37:g.48751506T>C	ENSP00000365766:p.Ser65Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2E2|J3KPV3|Q9UJV0	Missense_Mutation	SNP	ENST00000376582.3	37	CCDS14308.1	.	.	.	.	.	.	.	.	.	.	t	22.9	4.350938	0.82132	.	.	ENSG00000126768	ENST00000376582;ENST00000396779	T;T	0.32023	1.47;1.47	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.48978	0.1530	L	0.56124	1.755	0.58432	D	0.999996	D	0.57257	0.979	D	0.71414	0.973	T	0.45293	-0.9271	10	0.48119	T	0.1	-13.3291	13.0821	0.59119	0.0:0.0:0.0:1.0	.	65	O60830	TI17B_HUMAN	G	65;115	ENSP00000365766:S65G;ENSP00000379999:S115G	ENSP00000365766:S65G	S	-	1	0	TIMM17B	48636450	1.000000	0.71417	0.995000	0.50966	0.889000	0.51656	7.680000	0.84062	1.728000	0.51552	0.481000	0.45027	AGC		0.552	TIMM17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083411.2		NM_005834	
TNR	7143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	175323627	175323627	+	Silent	SNP	A	A	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr1:175323627A>T	ENST00000367674.2	-	18	3990	c.3282T>A	c.(3280-3282)atT>atA	p.I1094I	TNR_ENST00000263525.2_Silent_p.I1094I			Q92752	TENR_HUMAN	tenascin R	1094	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.I1094I(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCTCCAGTCGAATCCAGGTGT	0.547																																																	1	Substitution - coding silent(1)	kidney(1)											174.0	151.0	159.0					1																	175323627		2203	4300	6503	SO:0001819	synonymous_variant	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3282T>A	1.37:g.175323627A>T		Somatic		WXS	Illumina HiSeq	Phase_I	C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	CCDS1318.1																																																																																				0.547	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4		NM_003285	
TP53	7157	broad.mit.edu;hgsc.bcm.edu	37	17	7577498	7577498	+	Splice_Site	SNP	C	C	A			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr17:7577498C>A	ENST00000269305.4	-	7	972		c.e7+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(29)|p.0?(8)|p.E258fs*71(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGCTCCTGACCTGGAGTCTT	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	38	Unknown(29)|Whole gene deletion(8)|Deletion - Frameshift(1)	breast(5)|ovary(5)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|upper_aerodigestive_tract(2)|stomach(2)|central_nervous_system(2)|large_intestine(2)|oesophagus(2)|peritoneum(1)|biliary_tract(1)|liver(1)|urinary_tract(1)|salivary_gland(1)|lung(1)|skin(1)|pancreas(1)											121.0	85.0	97.0					17																	7577498		2203	4300	6503	SO:0001630	splice_region_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.782+1G>T	17.37:g.7577498C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928881	0.34002	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.31	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.688	0.69062	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518223	1.000000	0.71417	0.987000	0.45799	0.147000	0.21601	3.111000	0.50360	2.406000	0.81754	0.462000	0.41574	.		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546	Intron
ULK3	25989	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	75134629	75134629	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr15:75134629C>G	ENST00000440863.2	-	2	326	c.235G>C	c.(235-237)Gac>Cac	p.D79H	ULK3_ENST00000568667.1_Missense_Mutation_p.D90H|ULK3_ENST00000569437.1_Missense_Mutation_p.D79H	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	79	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D79H(1)		breast(2)	2						ACCTGAAAGTCTTTCAGCTGC	0.562																																																	1	Substitution - Missense(1)	kidney(1)											110.0	110.0	110.0					15																	75134629		1992	4161	6153	SO:0001583	missense	25989			BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"""unc-51-like kinase 3 (C. elegans)"""				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.235G>C	15.37:g.75134629C>G	ENSP00000400312:p.Asp79His	Somatic		WXS	Illumina HiSeq	Phase_I	B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Missense_Mutation	SNP	ENST00000440863.2	37	CCDS45305.1	.	.	.	.	.	.	.	.	.	.	C	31	5.085447	0.94100	.	.	ENSG00000140474	ENST00000440863;ENST00000418051	T	0.28255	1.62	5.32	5.32	0.75619	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.57080	0.2029	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	1.0;0.971;1.0	D;D;D	0.97110	0.999;0.949;1.0	T	0.60505	-0.7250	10	0.87932	D	0	-14.6034	18.0244	0.89264	0.0:1.0:0.0:0.0	.	90;79;79	B4DFT0;Q6PHR2;Q6PHR2-3	.;ULK3_HUMAN;.	H	79;90	ENSP00000400312:D79H	ENSP00000393658:D90H	D	-	1	0	ULK3	72921682	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.488000	0.66869	2.495000	0.84180	0.655000	0.94253	GAC		0.562	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421734.4		NM_015518	
VPRBP	9730	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	51455599	51455599	+	Silent	SNP	A	A	C			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr3:51455599A>C	ENST00000335891.5	-	9	2151	c.2142T>G	c.(2140-2142)ctT>ctG	p.L714L				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1163					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)	p.L1167L(1)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TCATTCCCCAAAGTGCAGACA	0.423																																																	1	Substitution - coding silent(1)	kidney(1)											57.0	54.0	55.0					3																	51455599		1913	4122	6035	SO:0001819	synonymous_variant	9730			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.2142T>G	3.37:g.51455599A>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Silent	SNP	ENST00000335891.5	37																																																																																					0.423	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_014703	
WNK4	65266	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40945664	40945664	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr17:40945664C>T	ENST00000246914.5	+	12	2233	c.2212C>T	c.(2212-2214)Cgg>Tgg	p.R738W		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	738					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)	p.R726W(1)|p.R738W(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CAGACGGATTCGGGAGATTAT	0.547																																					Esophageal Squamous(6;201 374 4964 23855 42828)												2	Substitution - Missense(2)	kidney(2)											96.0	84.0	88.0					17																	40945664		2203	4300	6503	SO:0001583	missense	65266			AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.2212C>T	17.37:g.40945664C>T	ENSP00000246914:p.Arg738Trp	Somatic		WXS	Illumina HiSeq	Phase_I	B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264378	0.80358	.	.	ENSG00000126562	ENST00000246914;ENST00000316085;ENST00000442804	T	0.33216	1.42	4.46	4.46	0.54185	.	0.190082	0.25830	N	0.028035	T	0.50154	0.1599	L	0.60455	1.87	0.33887	D	0.636844	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;P;P;P	0.65010	0.931;0.878;0.759;0.642	T	0.65199	-0.6226	10	0.87932	D	0	-11.5134	16.0356	0.80625	0.0:1.0:0.0:0.0	.	82;738;738;738	B4DXG4;Q96J92-3;B0LPI0;Q96J92	.;.;.;WNK4_HUMAN	W	738;510;82	ENSP00000246914:R738W	ENSP00000246914:R738W	R	+	1	2	WNK4	38199190	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.584000	0.46102	2.302000	0.77476	0.561000	0.74099	CGG		0.547	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			
ZNF141	7700	broad.mit.edu;hgsc.bcm.edu	37	4	367075	367075	+	Silent	SNP	C	C	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr4:367075C>T	ENST00000240499.7	+	4	998	c.849C>T	c.(847-849)atC>atT	p.I283I	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	283					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I283I(1)		breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AGAAACCCATCACATGTGAAG	0.378																																																	1	Substitution - coding silent(1)	kidney(1)											78.0	88.0	85.0					4																	367075		2203	4300	6503	SO:0001819	synonymous_variant	7700			L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.849C>T	4.37:g.367075C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6DK07	Silent	SNP	ENST00000240499.7	37	CCDS33931.1																																																																																				0.378	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1		NM_003441	
ZNF99	7652	broad.mit.edu;hgsc.bcm.edu	37	19	22940439	22940439	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr19:22940439C>G	ENST00000596209.1	-	4	2362	c.2272G>C	c.(2272-2274)Gag>Cag	p.E758Q	CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.E667Q	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	758					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E667Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CAGGGTTTCTCTGCAGTATGA	0.353																																																	1	Substitution - Missense(1)	kidney(1)											28.0	29.0	29.0					19																	22940439		1937	4108	6045	SO:0001583	missense	7652			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2272G>C	19.37:g.22940439C>G	ENSP00000472969:p.Glu758Gln	Somatic		WXS	Illumina HiSeq	Phase_I	M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	c	12.35	1.911917	0.33721	.	.	ENSG00000213973	ENST00000397104	T	0.20200	2.09	0.718	0.718	0.18202	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32285	0.0824	L	0.52823	1.66	0.27664	N	0.946978	D	0.54047	0.964	P	0.57244	0.816	T	0.13495	-1.0507	9	0.72032	D	0.01	.	8.9543	0.35807	0.0:1.0:0.0:0.0	.	667	A8MXY4	ZNF99_HUMAN	Q	667	ENSP00000380293:E667Q	ENSP00000380293:E667Q	E	-	1	0	ZNF99	22732279	0.836000	0.29430	0.050000	0.19076	0.049000	0.14656	1.126000	0.31344	0.675000	0.31264	0.395000	0.25975	GAG		0.353	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1		XM_065124	
ZNF845	91664	broad.mit.edu;ucsc.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256																3	Substitution - Missense(3)	kidney(3)											33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664			BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000595091.1	37	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1		XM_039908	
EP400	57634	broad.mit.edu	37	12	132547141	132547141	+	Silent	SNP	G	G	A			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000389561.2_Silent_p.Q2743Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597																																																	2	Substitution - coding silent(2)	kidney(2)											52.0	42.0	46.0					12																	132547141		2203	4300	6503	SO:0001819	synonymous_variant	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8337G>A	12.37:g.132547141G>A		Somatic		WXS	Illumina GAIIx	Phase_I	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015409	
FAM110C	642273	broad.mit.edu	37	2	45667	45667	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr2:45667C>T	ENST00000327669.4	-	1	718	c.719G>A	c.(718-720)gGg>gAg	p.G240E	FAM110C_ENST00000460464.1_5'Flank	NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	240					positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell projection assembly (GO:0060491)	cell cortex (GO:0005938)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)	p.G240E(1)		central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		ACAGTCCGACCCCGCGGTGAA	0.692																																																	1	Substitution - Missense(1)	kidney(1)											15.0	19.0	17.0					2																	45667		2104	4220	6324	SO:0001583	missense	642273			DQ431183	CCDS42645.1	2p25.3	2011-12-01			ENSG00000184731	ENSG00000184731			33340	protein-coding gene	gene with protein product		611395				17499476, 19698782	Standard	NM_001077710		Approved		uc010yim.2	Q1W6H9	OTTHUMG00000151321	ENST00000327669.4:c.719G>A	2.37:g.45667C>T	ENSP00000328347:p.Gly240Glu	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000327669.4	37	CCDS42645.1	.	.	.	.	.	.	.	.	.	.	C	3.276	-0.148118	0.06627	.	.	ENSG00000184731	ENST00000327669	T	0.40756	1.02	4.64	-1.17	0.09648	.	0.579667	0.18486	N	0.139791	T	0.21590	0.0520	L	0.38175	1.15	0.09310	N	1	B	0.33940	0.433	B	0.34242	0.178	T	0.20273	-1.0280	10	0.07990	T	0.79	-12.9829	2.4289	0.04466	0.1375:0.4248:0.2691:0.1685	.	240	Q1W6H9	F110C_HUMAN	E	240	ENSP00000328347:G240E	ENSP00000328347:G240E	G	-	2	0	FAM110C	35667	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.031000	0.12287	-0.127000	0.11661	0.561000	0.74099	GGG		0.692	FAM110C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322220.1		NM_001077710	
CLCNKA	1187	broad.mit.edu	37	1	16361919	16361919	+	IGR	SNP	G	G	A	rs148785270		TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr1:16361919G>A	ENST00000331433.4	+	0	2475							P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka						excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	AGGGGCCGCTGGGAAGGCTGT	0.647																																																	0																																										SO:0001628	intergenic_variant	348487				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529		1.37:g.16361919G>A		Somatic		WXS	Illumina GAIIx	Phase_I	B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Silent	SNP	ENST00000331433.4	37	CCDS167.1																																																																																				0.647	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			
RNY4P30	100862673	broad.mit.edu	37	13	50466815	50466815	+	RNA	SNP	C	C	T	rs56215346	byFrequency	TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr13:50466815C>T	ENST00000410216.1	-	0	0									RNA, Ro-associated Y4 pseudogene 30																		ACCTCTTGCTCCAATCAGAGG	0.502																																																	0																																												0					13q14.2	2011-08-03			ENSG00000222148	ENSG00000222148			42498	pseudogene	RNA, pseudogene							Standard	NG_032103		Approved						13.37:g.50466815C>T		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000410216.1	37																																																																																					0.502	RNY4P30-201	KNOWN	basic	misc_RNA	misc_RNA				
LOC285074	285074	broad.mit.edu	37	2	87261325	87261325	+	IGR	SNP	T	T	C	rs200077588	byFrequency	TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr2:87261325T>C								PLGLB1 (12350 upstream) : MIR4771-2 (160583 downstream)																							GAGTATGACTTTCTGTCAGTG	0.458													T|||	1355	0.270567	0.146	0.1816	5008	,	,		15394	0.3909		0.3022	False		,,,				2504	0.3456																0																																										SO:0001628	intergenic_variant	285074																															2.37:g.87261325T>C		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP		37																																																																																				0	0.458									
LRRC56	115399	broad.mit.edu	37	11	551241	551241	+	Silent	SNP	G	G	C			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr11:551241G>C	ENST00000270115.7	+	9	1235	c.735G>C	c.(733-735)ctG>ctC	p.L245L		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	245	LRRCT.							p.L245L(1)		kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCCGCGGCTGAGCCAGGACT	0.687																																																	1	Substitution - coding silent(1)	kidney(1)											22.0	18.0	19.0					11																	551241		1989	3954	5943	SO:0001819	synonymous_variant	115399				CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.735G>C	11.37:g.551241G>C		Somatic		WXS	Illumina GAIIx	Phase_I	Q8N3Q4	Silent	SNP	ENST00000270115.7	37	CCDS7700.1																																																																																				0.687	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254969.1		NM_198075	
KMT2B	9757	broad.mit.edu	37	19	36211503	36211503	+	Silent	SNP	A	A	C			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr19:36211503A>C	ENST00000222270.7	+	3	1254	c.1254A>C	c.(1252-1254)ccA>ccC	p.P418P	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000341701.1_Silent_p.P418P|KMT2B_ENST00000420124.1_Silent_p.P418P	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	418	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P418P(1)									cacccctcccacccccttcga	0.647																																																	1	Substitution - coding silent(1)	kidney(1)																																								SO:0001819	synonymous_variant	9757			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.1254A>C	19.37:g.36211503A>C		Somatic		WXS	Illumina GAIIx	Phase_I	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	37	CCDS46055.1																																																																																				0.647	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_014727	
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A	rs373338988		TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532			T	MLL	ALL																																			Dom	yes		9	9p22	4300	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""		L	4	Substitution - coding silent(4)	urinary_tract(1)|large_intestine(1)|lung(1)|kidney(1)											10.0	15.0	14.0					9																	20414379		1871	3851	5722	SO:0001819	synonymous_variant	4300			L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.465C>T	9.37:g.20414379G>A		Somatic		WXS	Illumina GAIIx	Phase_I	B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1		NM_004529	
MUC4	4585	broad.mit.edu	37	3	195506315	195506315	+	Missense_Mutation	SNP	T	T	C	rs62282465	byFrequency	TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr3:195506315T>C	ENST00000463781.3	-	2	12595	c.12136A>G	c.(12136-12138)Acc>Gcc	p.T4046A	MUC4_ENST00000475231.1_Missense_Mutation_p.T4046A|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T4046A(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGGGGTGGTGTCACCTGTG	0.587													.|||	561	0.112021	0.0817	0.0951	5008	,	,		10183	0.0595		0.1998	False		,,,				2504	0.1288																2	Substitution - Missense(2)	kidney(2)											32.0	17.0	22.0					3																	195506315		597	1263	1860	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12136A>G	3.37:g.195506315T>C	ENSP00000417498:p.Thr4046Ala	Somatic		WXS	Illumina GAIIx	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	t	5.814	0.334415	0.11013	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.29917	1.55;1.64	0.613	0.613	0.17597	.	0.326178	0.13539	N	0.380396	T	0.12944	0.0314	N	0.19112	0.55	0.09310	N	1	B	0.33494	0.414	B	0.22386	0.039	T	0.15321	-1.0441	9	.	.	.	.	3.4823	0.07607	1.0E-4:0.0:0.427:0.5729	rs62282465	3918	E7ESK3	.	A	4046	ENSP00000417498:T4046A;ENSP00000420243:T4046A	.	T	-	1	0	MUC4	196991094	0.001000	0.12720	0.008000	0.14137	0.095000	0.18619	0.338000	0.19858	0.522000	0.28464	0.055000	0.15244	ACC		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC4	4585	broad.mit.edu	37	3	195509563	195509563	+	Missense_Mutation	SNP	A	A	T	rs28605870		TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr3:195509563A>T	ENST00000463781.3	-	2	9347	c.8888T>A	c.(8887-8889)gTc>gAc	p.V2963D	MUC4_ENST00000475231.1_Missense_Mutation_p.V2963D|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V2963D(5)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGTGTCGGTGACAGGAAGAGA	0.587																																																	5	Substitution - Missense(5)	kidney(2)|skin(2)|endometrium(1)											8.0	7.0	7.0					3																	195509563		603	1454	2057	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.8888T>A	3.37:g.195509563A>T	ENSP00000417498:p.Val2963Asp	Somatic		WXS	Illumina GAIIx	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	a	5.292	0.239303	0.10023	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32023	1.47;1.53	.	.	.	.	.	.	.	.	T	0.28366	0.0701	N	0.19112	0.55	0.09310	N	1	D	0.65815	0.995	D	0.68483	0.958	T	0.11372	-1.0590	7	.	.	.	.	1.4974	0.02469	0.4322:0.0:0.2571:0.3107	rs60024035	2835	E7ESK3	.	D	2963	ENSP00000417498:V2963D;ENSP00000420243:V2963D	.	V	-	2	0	MUC4	196994342	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-1.570000	0.02140	-0.942000	0.03695	0.000000	0.15137	GTC		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC4	4585	broad.mit.edu	37	3	195509939	195509939	+	Missense_Mutation	SNP	G	G	T	rs202039836	byFrequency	TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr3:195509939G>T	ENST00000463781.3	-	2	8971	c.8512C>A	c.(8512-8514)Cct>Act	p.P2838T	MUC4_ENST00000475231.1_Missense_Mutation_p.P2838T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.P2838T(3)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGAGGAAGGGATGGTGACA	0.592													.|||	318	0.0634984	0.0045	0.0432	5008	,	,		7871	0.0417		0.1521	False		,,,				2504	0.089																3	Substitution - Missense(3)	kidney(3)											102.0	63.0	75.0					3																	195509939		690	1569	2259	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.8512C>A	3.37:g.195509939G>T	ENSP00000417498:p.Pro2838Thr	Somatic		WXS	Illumina GAIIx	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	3.466	-0.108992	0.06924	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.29917	1.55;1.55	.	.	.	.	.	.	.	.	T	0.10551	0.0258	N	0.08118	0	0.09310	N	1	P	0.38110	0.618	B	0.28638	0.092	T	0.19386	-1.0307	7	.	.	.	.	4.5444	0.12074	0.0:0.4166:0.5833:0.0	.	2710	E7ESK3	.	T	2838	ENSP00000417498:P2838T;ENSP00000420243:P2838T	.	P	-	1	0	MUC4	196994718	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.690000	0.00392	-0.000000	0.14550	0.000000	0.15137	CCT		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC4	4585	broad.mit.edu	37	3	195509941	195509941	+	Missense_Mutation	SNP	A	A	C	rs199849290	byFrequency	TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr3:195509941A>C	ENST00000463781.3	-	2	8969	c.8510T>G	c.(8509-8511)aTc>aGc	p.I2837S	MUC4_ENST00000475231.1_Missense_Mutation_p.I2837S|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.I2837S(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGAAGGGATGGTGACAGG	0.592													.|||	318	0.0634984	0.0045	0.0432	5008	,	,		7808	0.0417		0.1521	False		,,,				2504	0.089																1	Substitution - Missense(1)	kidney(1)						T	,,SER/ILE	2,1378		0,2,688	109.0	67.0	80.0		,,8510		0.0	3		80	27,3107		0,27,1540	no	intron,intron,missense	MUC4	NM_004532.5,NM_138297.4,NM_018406.6	,,142	0,29,2228	CC,CA,AA		0.8615,0.1449,0.6424	,,benign	,,2837/5413	195509941	29,4485	690	1567	2257	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.8510T>G	3.37:g.195509941A>C	ENSP00000417498:p.Ile2837Ser	Somatic		WXS	Illumina GAIIx	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	N	7.247	0.602483	0.13939	0.001449	0.008615	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.29917	1.55;1.6	.	.	.	.	.	.	.	.	T	0.08133	0.0203	N	0.08118	0	0.21290	N	0.99974	B	0.30727	0.292	B	0.21708	0.036	T	0.26503	-1.0101	7	.	.	.	.	5.3345	0.15949	0.9999:0.0:1.0E-4:0.0	.	2709	E7ESK3	.	S	2837	ENSP00000417498:I2837S;ENSP00000420243:I2837S	.	I	-	2	0	MUC4	196994720	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.560000	0.00113	-0.000000	0.14550	0.000000	0.15137	ATC		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC4	4585	broad.mit.edu	37	3	195510133	195510133	+	Missense_Mutation	SNP	T	T	C	rs371587475		TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr3:195510133T>C	ENST00000463781.3	-	2	8777	c.8318A>G	c.(8317-8319)aAc>aGc	p.N2773S	MUC4_ENST00000475231.1_Missense_Mutation_p.N2773S|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.N2773S(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGAAGTGTTGGTGACAGG	0.582																																																	1	Substitution - Missense(1)	kidney(1)											42.0	25.0	30.0					3																	195510133		688	1543	2231	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.8318A>G	3.37:g.195510133T>C	ENSP00000417498:p.Asn2773Ser	Somatic		WXS	Illumina GAIIx	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	0.344	-0.948616	0.02304	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32753	1.5;1.44	1.02	-1.52	0.08637	.	.	.	.	.	T	0.10465	0.0256	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.32929	-0.9888	8	.	.	.	.	4.3758	0.11270	0.0:0.4779:0.0:0.5221	.	2645	E7ESK3	.	S	2773	ENSP00000417498:N2773S;ENSP00000420243:N2773S	.	N	-	2	0	MUC4	196994912	0.000000	0.05858	0.002000	0.10522	0.016000	0.09150	-4.761000	0.00189	-0.419000	0.07439	0.063000	0.15292	AAC		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC4	4585	broad.mit.edu	37	3	195510146	195510146	+	Missense_Mutation	SNP	G	G	C	rs199750921		TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr3:195510146G>C	ENST00000463781.3	-	2	8764	c.8305C>G	c.(8305-8307)Ctt>Gtt	p.L2769V	MUC4_ENST00000475231.1_Missense_Mutation_p.L2769V|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.L2769V(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGACAGGAAGAGGGGTGGCG	0.577																																																	1	Substitution - Missense(1)	kidney(1)											35.0	21.0	25.0					3																	195510146		686	1538	2224	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.8305C>G	3.37:g.195510146G>C	ENSP00000417498:p.Leu2769Val	Somatic		WXS	Illumina GAIIx	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	2.836	-0.241610	0.05906	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.38722	1.12;1.16	1.02	-1.7	0.08159	.	.	.	.	.	T	0.20007	0.0481	N	0.19112	0.55	0.09310	N	1	B	0.24426	0.103	B	0.20384	0.029	T	0.19160	-1.0314	8	.	.	.	.	1.6641	0.02798	0.4545:0.0:0.2536:0.2919	.	2641	E7ESK3	.	V	2769	ENSP00000417498:L2769V;ENSP00000420243:L2769V	.	L	-	1	0	MUC4	196994925	0.000000	0.05858	0.002000	0.10522	0.103000	0.19146	-1.498000	0.02287	-0.413000	0.07507	0.074000	0.15403	CTT		0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC4	4585	broad.mit.edu	37	3	195512214	195512214	+	Silent	SNP	G	G	C			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr3:195512214G>C	ENST00000463781.3	-	2	6696	c.6237C>G	c.(6235-6237)acC>acG	p.T2079T	MUC4_ENST00000475231.1_Silent_p.T2079T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T2079T(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CAAGAAGAGGGGTGGCGTGAC	0.572																																																	1	Substitution - coding silent(1)	kidney(1)											18.0	20.0	20.0					3																	195512214		687	1572	2259	SO:0001819	synonymous_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6237C>G	3.37:g.195512214G>C		Somatic		WXS	Illumina GAIIx	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	CCDS54700.1																																																																																				0.572	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
OR8H1	219469	broad.mit.edu	37	11	56057618	56057618	+	Silent	SNP	T	T	C			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr11:56057618T>C	ENST00000313022.2	-	1	948	c.921A>G	c.(919-921)agA>agG	p.R307R		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R307R(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TGGAGTCCTGTCTTCTCTGCA	0.333																																																	1	Substitution - coding silent(1)	kidney(1)											86.0	98.0	94.0					11																	56057618		2201	4295	6496	SO:0001819	synonymous_variant	219469			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.921A>G	11.37:g.56057618T>C		Somatic		WXS	Illumina GAIIx	Phase_I	B2RNI7|Q6IFC5	Silent	SNP	ENST00000313022.2	37	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	T	1.907	-0.451717	0.04572	.	.	ENSG00000181693	ENST00000395186	.	.	.	3.71	-0.423	0.12325	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.8299	0.08870	0.0:0.2242:0.1871:0.5887	.	.	.	.	.	-1	.	.	.	-	.	.	OR8H1	55814194	0.011000	0.17503	0.000000	0.03702	0.025000	0.11179	1.299000	0.33424	-0.197000	0.10350	0.366000	0.22137	.		0.333	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1		NM_001005199	
PKHD1	5314	broad.mit.edu	37	6	51915062	51915062	+	Silent	SNP	T	T	G			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr6:51915062T>G	ENST00000371117.3	-	22	2447	c.2172A>C	c.(2170-2172)ccA>ccC	p.P724P	PKHD1_ENST00000340994.4_Silent_p.P724P	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	724			P -> R (in ARPKD). {ECO:0000269|PubMed:19914852}.		cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.P724P(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GATTGCCCCCTGGGCGAGCCG	0.547											OREG0017493	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - coding silent(2)	kidney(2)											63.0	63.0	63.0					6																	51915062		2203	4300	6503	SO:0001819	synonymous_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2172A>C	6.37:g.51915062T>G		Somatic	981	WXS	Illumina GAIIx	Phase_I	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	CCDS4935.1																																																																																				0.547	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1		NM_138694	
RGS6	9628	broad.mit.edu	37	14	72976891	72976891	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr14:72976891G>T	ENST00000553530.1	+	14	1202	c.995G>T	c.(994-996)aGa>aTa	p.R332I	RGS6_ENST00000556437.1_Missense_Mutation_p.R332I|RGS6_ENST00000406236.4_Missense_Mutation_p.R332I|RGS6_ENST00000434263.2_Missense_Mutation_p.R263I|RGS6_ENST00000355512.6_Missense_Mutation_p.R332I|RGS6_ENST00000404301.2_Missense_Mutation_p.R332I|RGS6_ENST00000554782.1_Missense_Mutation_p.R193I|RGS6_ENST00000402788.2_Missense_Mutation_p.R332I|RGS6_ENST00000553525.1_Missense_Mutation_p.R332I|RGS6_ENST00000555571.1_Missense_Mutation_p.R332I|RGS6_ENST00000407322.4_Missense_Mutation_p.R332I|RGS6_ENST00000343854.6_Missense_Mutation_p.R295I	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	332					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.R332I(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CGAGTAAAAAGATGGGGCTTC	0.458																																					Ovarian(143;1926 2468 21071 48641)												1	Substitution - Missense(1)	kidney(1)											114.0	130.0	124.0					14																	72976891		2203	4300	6503	SO:0001583	missense	9628			AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.995G>T	14.37:g.72976891G>T	ENSP00000452331:p.Arg332Ile	Somatic		WXS	Illumina GAIIx	Phase_I	C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	ENST00000553530.1	37	CCDS9808.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679683	0.68042	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854;ENST00000453330;ENST00000434263;ENST00000554782;ENST00000535521	T;T;T;T;T;T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42	5.72	5.72	0.89469	Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.080891	0.85682	D	0.000000	T	0.40546	0.1121	M	0.77103	2.36	0.80722	D	1	P;P;P;P	0.44281	0.831;0.462;0.51;0.481	B;B;B;B	0.38156	0.212;0.266;0.094;0.189	T	0.49597	-0.8923	10	0.87932	D	0	-10.59	20.244	0.98389	0.0:0.0:1.0:0.0	.	263;332;337;332	B7Z7N5;P49758-2;Q59FJ8;P49758	.;.;.;RGS6_HUMAN	I	332;332;332;332;332;332;332;332;332;295;304;263;193;193	ENSP00000451030:R332I;ENSP00000450936:R332I;ENSP00000452331:R332I;ENSP00000451855:R332I;ENSP00000347699:R332I;ENSP00000385243:R332I;ENSP00000384218:R332I;ENSP00000384612:R332I;ENSP00000383953:R332I;ENSP00000341199:R295I;ENSP00000412144:R263I;ENSP00000451912:R193I	ENSP00000341199:R295I	R	+	2	0	RGS6	72046644	1.000000	0.71417	0.992000	0.48379	0.912000	0.54170	5.401000	0.66326	2.865000	0.98341	0.655000	0.94253	AGA		0.458	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			
TRIM66	9866	broad.mit.edu	37	11	8662083	8662083	+	Silent	SNP	T	T	G			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr11:8662083T>G	ENST00000299550.6	-	9	1598	c.1404A>C	c.(1402-1404)ccA>ccC	p.P468P	TRIM66_ENST00000402157.2_Silent_p.P466P	NM_014818.1	NP_055633.1	O15016	TRI66_HUMAN	tripartite motif containing 66	468	Gln-rich.|Pro-rich.					aggresome (GO:0016235)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.P466P(1)		autonomic_ganglia(1)|breast(4)|kidney(1)|lung(1)|skin(2)	9						gaaggggaggtgggggatggg	0.627																																																	1	Substitution - coding silent(1)	kidney(1)											13.0	11.0	12.0					11																	8662083		690	1578	2268	SO:0001819	synonymous_variant	9866			AB002296		11p15.4	2013-01-28	2011-01-25		ENSG00000166436	ENSG00000166436		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"""	29005	protein-coding gene	gene with protein product		612000	"""chromosome 11 open reading frame 29"", ""tripartite motif-containing 66"""	C11orf29		9205841	Standard	NM_014818		Approved	KIAA0298, TIF1D	uc010rbo.2	O15016	OTTHUMG00000150481	ENST00000299550.6:c.1404A>C	11.37:g.8662083T>G		Somatic		WXS	Illumina GAIIx	Phase_I	Q9BQQ4	Silent	SNP	ENST00000299550.6	37																																																																																					0.627	TRIM66-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			XM_084529	
TRRAP	8295	broad.mit.edu	37	7	98574329	98574329	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr7:98574329T>G	ENST00000359863.4	+	54	8371	c.8162T>G	c.(8161-8163)cTt>cGt	p.L2721R	TRRAP_ENST00000446306.3_Missense_Mutation_p.L2703R|TRRAP_ENST00000355540.3_Missense_Mutation_p.L2703R	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2721	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.L2721R(1)|p.L2703R(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGTCTGAGTCTTCAGATTAAG	0.537																																																	2	Substitution - Missense(2)	kidney(2)											56.0	61.0	59.0					7																	98574329		2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.8162T>G	7.37:g.98574329T>G	ENSP00000352925:p.Leu2721Arg	Somatic		WXS	Illumina GAIIx	Phase_I	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.90|14.90	2.674681|2.674681	0.47781|0.47781	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.46063	.|0.88;0.88	5.92|5.92	5.92|5.92	0.95590|0.95590	.|PIK-related kinase (1);Armadillo-like helical (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.23649|0.23649	0.0572|0.0572	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.22851	.|0.061;0.023;0.076	.|B;B;B	.|0.15870	.|0.014;0.005;0.014	T|T	0.12993|0.12993	-1.0526|-1.0526	5|10	.|0.10902	.|T	.|0.67	.|.	16.3634|16.3634	0.83296|0.83296	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2703;2442;2721	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	V|R	2443|2721;2703;2702	.|ENSP00000352925:L2721R;ENSP00000347733:L2703R	.|ENSP00000347733:L2703R	F|L	+|+	1|2	0|0	TRRAP|TRRAP	98412265|98412265	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.587000|0.587000	0.36485|0.36485	7.782000|7.782000	0.85680|0.85680	2.270000|2.270000	0.75569|0.75569	0.459000|0.459000	0.35465|0.35465	TTC|CTT		0.537	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1		NM_003496	
UNC13A	23025	broad.mit.edu	37	19	17799246	17799247	+	5'Flank	INS	-	-	G	rs140985715	byFrequency	TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr19:17799246_17799247insG	ENST00000519716.2	-	0	0				UNC13A_ENST00000551649.1_5'Flank|UNC13A_ENST00000552293.1_5'Flank|UNC13A_ENST00000428389.2_Frame_Shift_Ins_p.P52fs|UNC13A_ENST00000550896.1_5'Flank	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)						beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CGCTGCGGGCTGGGGGGGCGTT	0.757														616	0.123003	0.3797	0.0605	5008	,	,		8212	0.001		0.0487	False		,,,				2504	0.0225																0										618,78,1236		236,8,138,24,22,538						-1.3	0.5		dbSNP_134	2	307,213,3968		93,7,114,65,76,1889	no	near-gene-5				329,15,252,89,98,2427	A1A1,A1A2,A1R,A2A2,A2R,RR		11.5865,36.0248,18.9408				925,291,5204				SO:0001631	upstream_gene_variant	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8			19.37:g.17799253_17799253dupG	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_I	E5RHY9	Frame_Shift_Ins	INS	ENST00000519716.2	37	CCDS46013.2																																																																																				0.757	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2		XM_038604	
UNC13D	201294	broad.mit.edu	37	17	73830529	73830529	+	Silent	SNP	C	C	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr17:73830529C>T	ENST00000207549.4	-	23	2554	c.2175G>A	c.(2173-2175)gaG>gaA	p.E725E	UNC13D_ENST00000412096.2_Silent_p.E725E	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	725					defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)		p.E725E(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTACCCGCTGCTCCAGGGCCT	0.672									Familial Hemophagocytic Lymphohistiocytosis																																								1	Substitution - coding silent(1)	kidney(1)											9.0	9.0	9.0					17																	73830529		2176	4270	6446	SO:0001819	synonymous_variant	201294	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.2175G>A	17.37:g.73830529C>T		Somatic		WXS	Illumina GAIIx	Phase_I	B4DWG9|Q9H7K5	Silent	SNP	ENST00000207549.4	37	CCDS11730.1																																																																																				0.672	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2		XM_113950	
ROCK1P1	727758	broad.mit.edu	37	18	109336	109336	+	RNA	SNP	G	G	T			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr18:109336G>T	ENST00000608049.1	+	0	272					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		tcttgcctaggctttgcctac	0.473																																																	0																																												0					18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.109336G>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000608049.1	37																																																																																					0.473	ROCK1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472417.1			
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256																3	Substitution - coding silent(3)	kidney(3)																																								SO:0001819	synonymous_variant	91664			BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000595091.1	37	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1		XM_039908	
ZNF845	91664	broad.mit.edu	37	19	53856761	53856761	+	Missense_Mutation	SNP	T	T	C	rs528924232		TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr19:53856761T>C	ENST00000595091.1	+	5	3052	c.2833T>C	c.(2833-2835)Tgt>Cgt	p.C945R	ZNF845_ENST00000458035.1_Missense_Mutation_p.C945R			Q96IR2	ZN845_HUMAN	zinc finger protein 845	945					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C945R(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACCTTACAAGTGTAATGAATG	0.348																																																	1	Substitution - Missense(1)	kidney(1)											25.0	23.0	24.0					19																	53856761		692	1590	2282	SO:0001583	missense	91664			BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2833T>C	19.37:g.53856761T>C	ENSP00000470005:p.Cys945Arg	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000595091.1	37	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	T	7.922	0.738844	0.15642	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	D	0.85258	-1.96	2.04	0.921	0.19403	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94417	0.8204	H	0.99336	4.52	0.38301	D	0.942985	D	0.89917	1.0	D	0.91635	0.999	D	0.91222	0.5007	9	0.66056	D	0.02	.	6.1858	0.20495	0.2258:0.0:0.0:0.7742	.	945	Q96IR2	ZN845_HUMAN	R	945;861	ENSP00000388311:C945R	ENSP00000412086:C861R	C	+	1	0	ZNF845	58548573	1.000000	0.71417	0.080000	0.20451	0.053000	0.15095	4.520000	0.60524	0.031000	0.15407	-0.871000	0.02989	TGT		0.348	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1		XM_039908	
KMT2C	58508	broad.mit.edu	37	7	151970836	151970836	+	Silent	SNP	G	G	A			TCGA-BP-4770-01A-01D-1501-10	TCGA-BP-4770-11A-01D-1501-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	aecbc5db-f75a-42d0-a84d-aa0369b08eec	acf4697e-e118-46c4-827a-76e2e4ab0124	g.chr7:151970836G>A	ENST00000262189.6	-	7	1184	c.966C>T	c.(964-966)caC>caT	p.H322H	KMT2C_ENST00000355193.2_Silent_p.H322H	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	322					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.H322H(2)									GCAGGAAGATGTGACTGAAAT	0.413																																						.											2	Substitution - coding silent(2)	kidney(2)											256.0	240.0	245.0					7																	151970836		2203	4300	6503	SO:0001819	synonymous_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.966C>T	7.37:g.151970836G>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1																																																																																				0.413	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			
